#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
ABCA13	154664	genome.wustl.edu	37	7	48494709	48494709	+	Missense_Mutation	SNP	G	G	A	rs536577347		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:48494709G>A	ENST00000435803.1	+	43	12665	c.12641G>A	c.(12640-12642)cGg>cAg	p.R4214Q	ABCA13_ENST00000544596.1_5'UTR	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4214					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCCTGGCCCGGAGGCTCCGC	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		12922	0.0		0.001	False		,,,				2504	0.0																0													10.0	13.0	12.0					7																	48494709		2014	4111	6125	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12641G>A	7.37:g.48494709G>A	ENSP00000411096:p.Arg4214Gln		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4214Q	ENST00000435803.1	37	c.12641	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563778	0.45694	.	.	ENSG00000179869	ENST00000435803;ENST00000411975	D;D	0.92299	-3.01;-3.01	5.06	-5.45	0.02616	.	0.843566	0.10048	N	0.722623	T	0.78723	0.4328	N	0.08118	0	0.09310	N	0.999997	B;B	0.12630	0.006;0.002	B;B	0.04013	0.001;0.0	T	0.65138	-0.6241	10	0.87932	D	0	.	5.8628	0.18759	0.0725:0.4267:0.3259:0.1749	.	1916;4214	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	4214;17	ENSP00000411096:R4214Q;ENSP00000391042:R17Q	ENSP00000391042:R17Q	R	+	2	0	ABCA13	48465255	0.774000	0.28592	0.000000	0.03702	0.018000	0.09664	0.802000	0.27069	-0.818000	0.04329	-0.502000	0.04539	CGG	ABCA13	-	NULL		0.706	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48494709	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.000	A
ABCA13	154664	genome.wustl.edu	37	7	48511183	48511183	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:48511183C>T	ENST00000435803.1	+	45	12986	c.12962C>T	c.(12961-12963)tCa>tTa	p.S4321L	ABCA13_ENST00000544596.1_Missense_Mutation_p.S51L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4321					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCAGGATTCATGTGGCTGC	0.348																																																	0													65.0	57.0	59.0					7																	48511183		1819	4068	5887	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12962C>T	7.37:g.48511183C>T	ENSP00000411096:p.Ser4321Leu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S4321L	ENST00000435803.1	37	c.12962	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708846	0.68615	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87412	-2.07;-2.2;-2.25	5.65	4.77	0.60923	.	0.000000	0.41396	D	0.000886	D	0.89976	0.6871	L	0.58669	1.825	0.35948	D	0.833671	B;D;B	0.60575	0.234;0.988;0.079	B;D;B	0.62955	0.167;0.909;0.031	D	0.91319	0.5080	10	0.40728	T	0.16	.	10.2983	0.43637	0.0:0.9095:0.0:0.0905	.	51;2023;4321	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4321;94;51	ENSP00000411096:S4321L;ENSP00000391042:S94L;ENSP00000442634:S51L	ENSP00000391042:S94L	S	+	2	0	ABCA13	48481729	0.021000	0.18746	0.176000	0.23000	0.943000	0.58893	1.475000	0.35409	1.378000	0.46305	0.591000	0.81541	TCA	ABCA13	-	NULL		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48511183	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	missense	SNP	0.901	T
AASS	10157	genome.wustl.edu	37	7	121718000	121718000	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:121718000C>T	ENST00000393376.1	-	22	2649	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	AASS_ENST00000417368.2_Missense_Mutation_p.E852K|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	852	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTTTTATGTTCTAAATGTCCA	0.398																																																	0													275.0	289.0	284.0					7																	121718000		2203	4300	6503	SO:0001583	missense	10157			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2554G>A	7.37:g.121718000C>T	ENSP00000377040:p.Glu852Lys		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E852K	ENST00000393376.1	37	c.2554	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.347315	0.95807	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.43688	0.94;0.94	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	L	0.61218	1.895	0.80722	D	1	P	0.38677	0.642	P	0.47528	0.549	T	0.54118	-0.8341	10	0.52906	T	0.07	-28.3734	19.1282	0.93394	0.0:1.0:0.0:0.0	.	852	Q9UDR5	AASS_HUMAN	K	852	ENSP00000377040:E852K;ENSP00000403768:E852K	ENSP00000377040:E852K	E	-	1	0	AASS	121505236	1.000000	0.71417	0.927000	0.36925	0.926000	0.56050	7.329000	0.79170	2.614000	0.88457	0.585000	0.79938	GAA	AASS	-	pfam_Saccharopine_DH/HSpermid_syn		0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	C	NM_005763		121718000	-1	no_errors	ENST00000393376	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCA4	24	genome.wustl.edu	37	1	94508319	94508319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:94508319G>C	ENST00000370225.3	-	22	3412	c.3326C>G	c.(3325-3327)tCa>tGa	p.S1109*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1109	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGTTACCTGAGCGATACTT	0.562																																																	0													78.0	66.0	70.0					1																	94508319		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3326C>G	1.37:g.94508319G>C	ENSP00000359245:p.Ser1109*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.S1109*	ENST00000370225.3	37	c.3326	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.074773	0.99331	.	.	ENSG00000198691	ENST00000370225	.	.	.	5.76	4.85	0.62838	.	0.426186	0.26421	N	0.024471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.859	0.70366	0.0687:0.0:0.9313:0.0	.	.	.	.	X	1109	.	ENSP00000359245:S1109X	S	-	2	0	ABCA4	94280907	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.299000	0.51826	1.445000	0.47624	0.650000	0.86243	TCA	ABCA4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94508319	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ABCA4	24	genome.wustl.edu	37	1	94568588	94568588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:94568588G>A	ENST00000370225.3	-	5	639	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.Q185*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	185					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGACGGACTTGAGAGTTGATC	0.473																																																	0													199.0	185.0	190.0					1																	94568588		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.553C>T	1.37:g.94568588G>A	ENSP00000359245:p.Gln185*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.Q185*	ENST00000370225.3	37	c.553	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.625067	0.97714	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	5.42	5.42	0.78866	.	0.128389	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.8625	0.92278	0.0:0.0:1.0:0.0	.	.	.	.	X	185	.	ENSP00000359245:Q185X	Q	-	1	0	ABCA4	94341176	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.904000	0.75708	2.542000	0.85734	0.655000	0.94253	CAA	ABCA4	-	tigrfam_Rim_ABC_transpt		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94568588	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABCB1	5243	genome.wustl.edu	37	7	87133740	87133740	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:87133740G>C	ENST00000265724.3	-	29	4079	c.3662C>G	c.(3661-3663)gCc>gGc	p.A1221G	ABCB1_ENST00000543898.1_Missense_Mutation_p.A1157G|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1221	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCTTCTCTGGCTTTGTCCAG	0.443																																																	0													89.0	86.0	87.0					7																	87133740		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3662C>G	7.37:g.87133740G>C	ENSP00000265724:p.Ala1221Gly		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A1221G	ENST00000265724.3	37	c.3662	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.267865	0.95399	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85339	-1.97;-1.97	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	L	0.31420	0.93	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.984;0.994	D	0.89788	0.3966	10	0.87932	D	0	-19.2467	19.0588	0.93078	0.0:0.0:1.0:0.0	.	1157;1221	B5AK60;P08183	.;MDR1_HUMAN	G	1002;1221;1157	ENSP00000265724:A1221G;ENSP00000444095:A1157G	ENSP00000265724:A1221G	A	-	2	0	ABCB1	86971676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.819000	0.99357	2.744000	0.94065	0.655000	0.94253	GCC	ABCB1	-	pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87133740	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCB8	11194	genome.wustl.edu	37	7	150730662	150730662	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:150730662C>T	ENST00000297504.6	+	3	212				ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000356058.4_Intron|ABCB8_ENST00000477092.1_Intron|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000493338.1_Intron|ABCB8_ENST00000358849.4_Intron|ABCB8_ENST00000477719.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8						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)	GTCGGAGCCTCAAGCCATCCA	0.662																																																	0													31.0	33.0	32.0					7																	150730662		2203	4300	6503	SO:0001627	intron_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.147-30C>T	7.37:g.150730662C>T			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	RNA	SNP	-	NULL	ENST00000297504.6	37	NULL		7																																																																																			ABCB8	-	-		0.662	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	C	NM_007188		150730662	+1	no_errors	ENST00000466956	ensembl	human	known	70_37	rna	SNP	0.000	T
ABCC3	8714	genome.wustl.edu	37	17	48745156	48745156	+	Intron	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48745156G>T	ENST00000285238.8	+	12	1715				ABCC3_ENST00000427699.1_Missense_Mutation_p.G558V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCCTCCAGGGCTCTGGGTGC	0.647																																																	0													48.0	46.0	47.0					17																	48745156		2203	4300	6503	SO:0001627	intron_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1635+38G>T	17.37:g.48745156G>T			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	p.G558V	ENST00000285238.8	37	c.1673	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	1.715	-0.498080	0.04291	.	.	ENSG00000108846	ENST00000427699	D	0.90676	-2.71	2.98	0.414	0.16406	.	.	.	.	.	T	0.77322	0.4113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66073	-0.6014	9	0.87932	D	0	.	3.3886	0.07281	0.0:0.4484:0.3269:0.2247	.	558	O15438-5	.	V	558	ENSP00000395160:G558V	ENSP00000395160:G558V	G	+	2	0	ABCC3	46100155	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.407000	0.07178	0.115000	0.18071	-0.302000	0.09304	GGC	ABCC3	-	NULL		0.647	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	G	NM_020038		48745156	+1	no_errors	ENST00000427699	ensembl	human	known	70_37	missense	SNP	0.003	T
ABCC3	8714	genome.wustl.edu	37	17	48768463	48768463	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48768463C>G	ENST00000285238.8	+	31	4566	c.4486C>G	c.(4486-4488)Ctg>Gtg	p.L1496V	RP11-294J22.6_ENST00000574246.1_RNA	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1496	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGTCCTGGTCCTGGACAAAGG	0.502																																																	0													107.0	96.0	100.0					17																	48768463		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.4486C>G	17.37:g.48768463C>G	ENSP00000285238:p.Leu1496Val		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	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,tigrfam_Multidrug-R_assoc	p.L1496V	ENST00000285238.8	37	c.4486	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573560	0.65765	.	.	ENSG00000108846	ENST00000285238	T	0.70516	-0.49	5.23	2.1	0.27182	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000008	T	0.79661	0.4484	M	0.67625	2.065	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.79259	-0.1877	10	0.87932	D	0	-12.6459	9.7862	0.40677	0.0:0.771:0.0:0.229	.	1496	O15438	MRP3_HUMAN	V	1496	ENSP00000285238:L1496V	ENSP00000285238:L1496V	L	+	1	2	ABCC3	46123462	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	1.175000	0.31944	0.582000	0.29556	0.561000	0.74099	CTG	ABCC3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.502	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48768463	+1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	0.999	G
ABCC6	368	genome.wustl.edu	37	16	16315644	16315644	+	Silent	SNP	C	C	G	rs572911630		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:16315644C>G	ENST00000205557.7	-	2	110	c.81G>C	c.(79-81)ctG>ctC	p.L27L	ABCC6_ENST00000575728.1_Silent_p.L27L|RP11-517A5.7_ENST00000574883.1_RNA|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	27					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AGCACAGGCTCAGCAGGCTGG	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17469	0.0		0.0	False		,,,				2504	0.0																0													11.0	14.0	13.0					16																	16315644		2137	4194	6331	SO:0001819	synonymous_variant	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.81G>C	16.37:g.16315644C>G			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	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,tigrfam_Multidrug-R_assoc	p.L27	ENST00000205557.7	37	c.81	CCDS10568.1	16																																																																																			ABCC6	-	tigrfam_Multidrug-R_assoc		0.607	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	C			16315644	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	silent	SNP	0.004	G
ABCG8	64241	genome.wustl.edu	37	2	44104794	44104794	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:44104794C>T	ENST00000272286.2	+	12	1941	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	617	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAATGCCTCTCGGGAACCTCA	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													96.0	99.0	98.0					2																	44104794		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1851C>T	2.37:g.44104794C>T		921	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.L617	ENST00000272286.2	37	c.1851	CCDS1815.1	2																																																																																			ABCG8	-	NULL		0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44104794	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.003	T
ABHD8	79575	genome.wustl.edu	37	19	17405543	17405543	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17405543G>A	ENST00000247706.3	-	3	1112	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	291							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGGGCATGTTGAAGATTGAGC	0.607																																					Ovarian(156;1368 2543 15275 41187)												0													94.0	75.0	81.0					19																	17405543		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.873C>T	19.37:g.17405543G>A			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.F291	ENST00000247706.3	37	c.873	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1		0.607	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	G	NM_024527		17405543	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	silent	SNP	1.000	A
ABHD8	79575	genome.wustl.edu	37	19	17405645	17405645	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17405645G>A	ENST00000247706.3	-	3	1010	c.771C>T	c.(769-771)ttC>ttT	p.F257F	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	257							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGAATGTGCAGAAAGAGACAC	0.532																																					Ovarian(156;1368 2543 15275 41187)												0													64.0	53.0	57.0					19																	17405645		2203	4300	6503	SO:0001819	synonymous_variant	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.771C>T	19.37:g.17405645G>A			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.F257	ENST00000247706.3	37	c.771	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like		0.532	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	G	NM_024527		17405645	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	silent	SNP	1.000	A
ACAD10	80724	genome.wustl.edu	37	12	112167695	112167695	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:112167695G>C	ENST00000313698.4	+	10	1484	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L	ACAD10_ENST00000549590.1_Silent_p.L443L|ACAD10_ENST00000392636.2_Silent_p.L45L|ACAD10_ENST00000455480.2_Silent_p.L474L|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	443						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGAGAGGCTGATCGAATGGC	0.557																																																	0													71.0	61.0	65.0					12																	112167695		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1329G>C	12.37:g.112167695G>C			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.L474	ENST00000313698.4	37	c.1422	CCDS31903.1	12																																																																																			ACAD10	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.557	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	G	NM_025247		112167695	+1	no_errors	ENST00000455480	ensembl	human	known	70_37	silent	SNP	1.000	C
ACADM	34	genome.wustl.edu	37	1	76226834	76226834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226834G>T	ENST00000370841.4	+	11	1410	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	ACADM_ENST00000420607.2_Nonsense_Mutation_p.E329*|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Nonsense_Mutation_p.E358*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.E289*|ACADM_ENST00000543667.1_Nonsense_Mutation_p.E136*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	325					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TATGCTGGCTGAAATGGCAAT	0.343																																																	0													68.0	67.0	68.0					1																	76226834		2203	4300	6503	SO:0001587	stop_gained	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.973G>T	1.37:g.76226834G>T	ENSP00000359878:p.Glu325*		Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E329*	ENST00000370841.4	37	c.985	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.005585	0.98605	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.3	5.3	0.74995	.	0.156269	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9054	0.88917	0.0:0.0:1.0:0.0	.	.	.	.	X	325;358;289;136;329	.	ENSP00000359871:E358X	E	+	1	0	ACADM	75999422	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.116000	0.94341	2.631000	0.89168	0.655000	0.94253	GAA	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.343	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226834	+1	no_errors	ENST00000420607	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ACADM	34	genome.wustl.edu	37	1	76226875	76226875	+	Missense_Mutation	SNP	G	G	T	rs543790339		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226875G>T	ENST00000370841.4	+	11	1451	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	ACADM_ENST00000420607.2_Missense_Mutation_p.Q342H|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.Q371H|ACADM_ENST00000541113.1_Missense_Mutation_p.Q302H|ACADM_ENST00000543667.1_Missense_Mutation_p.Q149H	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	338					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TGAGTTACCAGAGAGCAGCTT	0.368																																																	0													105.0	105.0	105.0					1																	76226875		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1014G>T	1.37:g.76226875G>T	ENSP00000359878:p.Gln338His		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q342H	ENST00000370841.4	37	c.1026	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037899	0.35989	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.3	3.44	0.39384	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.057818	0.64402	D	0.000001	T	0.81079	0.4748	N	0.03177	-0.4	0.58432	D	0.999999	B;B;B;B;B	0.24721	0.11;0.014;0.005;0.028;0.034	B;B;B;B;B	0.26416	0.069;0.025;0.021;0.025;0.042	T	0.77427	-0.2592	10	0.59425	D	0.04	.	10.8392	0.46704	0.1548:0.0:0.8452:0.0	.	302;252;371;342;338	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	H	338;371;302;149;342	ENSP00000359878:Q338H;ENSP00000359871:Q371H;ENSP00000442324:Q302H;ENSP00000446176:Q149H;ENSP00000409612:Q342H	ENSP00000359871:Q371H	Q	+	3	2	ACADM	75999463	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.321000	0.51999	0.734000	0.32515	-0.137000	0.14449	CAG	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.368	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226875	+1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	1.000	T
ACADM	34	genome.wustl.edu	37	1	76226877	76226877	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226877G>A	ENST00000370841.4	+	11	1453	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	ACADM_ENST00000420607.2_Missense_Mutation_p.R343K|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.R372K|ACADM_ENST00000541113.1_Missense_Mutation_p.R303K|ACADM_ENST00000543667.1_Missense_Mutation_p.R150K	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	339					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGTTACCAGAGAGCAGCTTGG	0.373																																																	0													108.0	107.0	107.0					1																	76226877		2203	4300	6503	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1016G>A	1.37:g.76226877G>A	ENSP00000359878:p.Arg339Lys		Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.R343K	ENST00000370841.4	37	c.1028	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751495	0.31046	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91	5.3	5.3	0.74995	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.093945	0.64402	D	0.000002	D	0.85656	0.5747	N	0.17674	0.51	0.58432	D	0.999999	B;B;B;B;B	0.16603	0.018;0.001;0.017;0.002;0.002	B;B;B;B;B	0.26310	0.055;0.027;0.035;0.027;0.068	T	0.81976	-0.0686	10	0.06494	T	0.89	.	17.9054	0.88917	0.0:0.0:1.0:0.0	.	303;253;372;343;339	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	K	339;372;303;150;343	ENSP00000359878:R339K;ENSP00000359871:R372K;ENSP00000442324:R303K;ENSP00000446176:R150K;ENSP00000409612:R343K	ENSP00000359871:R372K	R	+	2	0	ACADM	75999465	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.116000	0.94341	2.631000	0.89168	0.655000	0.94253	AGA	ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.373	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226877	+1	no_errors	ENST00000420607	ensembl	human	known	70_37	missense	SNP	1.000	A
ACADM	34	genome.wustl.edu	37	1	76226983	76226983	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76226983G>A	ENST00000370841.4	+	11	1559	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	ACADM_ENST00000420607.2_Silent_p.Q378Q|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Silent_p.Q407Q|ACADM_ENST00000541113.1_Silent_p.Q338Q|ACADM_ENST00000543667.1_Silent_p.Q185Q	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	374					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ATGCTGTGCAGATACTTGGAG	0.373																																																	0													150.0	142.0	145.0					1																	76226983		2203	4300	6503	SO:0001819	synonymous_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1122G>A	1.37:g.76226983G>A			Q5T4U4|Q9NYF1	Silent	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.Q378	ENST00000370841.4	37	c.1134	CCDS668.1	1																																																																																			ACADM	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.373	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	G			76226983	+1	no_errors	ENST00000420607	ensembl	human	known	70_37	silent	SNP	0.997	A
ACAN	176	genome.wustl.edu	37	15	89416118	89416118	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:89416118G>C	ENST00000561243.1	+	15	7195	c.7195G>C	c.(7195-7197)Gag>Cag	p.E2399Q	ACAN_ENST00000439576.2_Missense_Mutation_p.E2399Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E2361Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2361Q			P16112	PGCA_HUMAN	aggrecan	2284	G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAATTTGAGAACTGGCG	0.577																																																	0													85.0	89.0	88.0					15																	89416118		2064	4232	6296	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7195G>C	15.37:g.89416118G>C	ENSP00000453342:p.Glu2399Gln		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2399Q	ENST00000561243.1	37	c.7195	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043713	0.93685	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.19105	2.17;2.17	5.27	5.27	0.74061	.	0.000000	0.33057	N	0.005326	T	0.34803	0.0910	L	0.31371	0.925	0.44227	D	0.997065	D;D	0.89917	1.0;0.997	D;P	0.64595	0.927;0.826	T	0.11616	-1.0580	10	0.87932	D	0	-9.1481	17.9081	0.88926	0.0:0.0:1.0:0.0	.	2361;2399	E7ENV9;E7EX88	.;.	Q	2399;2361;2285	ENSP00000387356:E2399Q;ENSP00000341615:E2361Q	ENSP00000268134:E2285Q	E	+	1	0	ACAN	87217122	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.752000	0.98900	2.453000	0.82957	0.655000	0.94253	GAG	ACAN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89416118	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	C
ACP5	54	genome.wustl.edu	37	19	11685968	11685968	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11685968G>A	ENST00000592828.1	-	7	1237	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	ACP5_ENST00000218758.5_Silent_p.L279L|ACP5_ENST00000590420.1_Silent_p.I36I|ACP5_ENST00000433365.2_Silent_p.L279L|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000412435.2_Silent_p.L279L	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	279					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TGGAAGCGCAGATAGCCGTTG	0.562																																																	0													95.0	80.0	85.0					19																	11685968		2203	4300	6503	SO:0001819	synonymous_variant	54			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.835C>T	19.37:g.11685968G>A			A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP	pfam_Metallo_PEstase_dom	p.L279	ENST00000592828.1	37	c.835	CCDS12265.1	19																																																																																			ACP5	-	NULL		0.562	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	G			11685968	-1	no_errors	ENST00000218758	ensembl	human	known	70_37	silent	SNP	1.000	A
ACTG2	72	genome.wustl.edu	37	2	74129532	74129532	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74129532G>A	ENST00000409624.1	+	4	815	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.E58K|ACTG2_ENST00000409918.1_Missense_Mutation_p.E58K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	58					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGTGGGGGATGAGGCTCAGAG	0.502																																																	0													155.0	134.0	141.0					2																	74129532		2203	4300	6503	SO:0001583	missense	72				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.172G>A	2.37:g.74129532G>A	ENSP00000386857:p.Glu58Lys		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E58K	ENST00000409624.1	37	c.172	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855224	0.32791	.	.	ENSG00000163017	ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D	0.97850	-4.57;-2.87;-2.87;-4.57	3.84	2.96	0.34315	Actin, conserved site (1);	0.138695	0.46145	D	0.000306	D	0.98541	0.9513	M	0.85041	2.73	0.39903	D	0.973926	P;P	0.41008	0.735;0.695	P;D	0.65323	0.519;0.934	D	0.99897	1.1151	10	0.87932	D	0	.	10.8585	0.46812	0.0964:0.0:0.9036:0.0	.	58;58	B8ZZJ2;P63267	.;ACTH_HUMAN	K	58	ENSP00000295137:E58K;ENSP00000387182:E58K;ENSP00000410020:E58K;ENSP00000386857:E58K	ENSP00000295137:E58K	E	+	1	0	ACTG2	73983040	1.000000	0.71417	0.963000	0.40424	0.133000	0.20885	7.748000	0.85085	0.972000	0.38314	-0.222000	0.12452	GAG	ACTG2	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like		0.502	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	G	NM_001615		74129532	+1	no_errors	ENST00000345517	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTL7A	10881	genome.wustl.edu	37	9	111625727	111625727	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:111625727G>A	ENST00000333999.3	+	1	1125	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	375						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCGTCTGCAGAAGGAGCTAA	0.592																																					Esophageal Squamous(177;1480 3591 17554)												0													118.0	93.0	101.0					9																	111625727		2203	4300	6503	SO:0001819	synonymous_variant	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1125G>A	9.37:g.111625727G>A			B2RC83|Q5JSV0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Q375	ENST00000333999.3	37	c.1125	CCDS6772.1	9																																																																																			ACTL7A	-	pfam_Actin-like,smart_Actin-like		0.592	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	G	NM_006687		111625727	+1	no_errors	ENST00000333999	ensembl	human	known	70_37	silent	SNP	1.000	A
ACTR2	10097	genome.wustl.edu	37	2	65473825	65473825	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:65473825C>T	ENST00000260641.5	+	3	484	c.327C>T	c.(325-327)ctC>ctT	p.L109L	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Silent_p.L114L|ACTR2_ENST00000542850.1_Silent_p.L54L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	109					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AAATCTTACTCACAGAACCTC	0.358																																																	0													108.0	120.0	116.0					2																	65473825		2203	4300	6503	SO:0001819	synonymous_variant	10097			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.327C>T	2.37:g.65473825C>T			B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L114	ENST00000260641.5	37	c.342	CCDS1881.1	2																																																																																			ACTR2	-	pfam_Actin-like,smart_Actin-like		0.358	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	C	NM_001005386		65473825	+1	no_errors	ENST00000377982	ensembl	human	known	70_37	silent	SNP	1.000	T
ACVR2B	93	genome.wustl.edu	37	3	38519415	38519415	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38519415C>T	ENST00000352511.4	+	3	796	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	108					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AAGGCAACTTCTGCAACGAAC	0.582																																																	0													135.0	133.0	134.0					3																	38519415		2203	4300	6503	SO:0001819	synonymous_variant	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.324C>T	3.37:g.38519415C>T			Q4VAV0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.F108	ENST00000352511.4	37	c.324	CCDS2679.1	3																																																																																			ACVR2B	-	pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt		0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	HGNC	protein_coding	OTTHUMT00000254059.3	C	NM_001106		38519415	+1	no_errors	ENST00000352511	ensembl	human	known	70_37	silent	SNP	1.000	T
ACTR8	93973	genome.wustl.edu	37	3	53916116	53916116	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:53916116C>G	ENST00000335754.3	-	1	113	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000482349.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	5					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCACCCTTCTCAGCCTGGGTC	0.682																																																	0													55.0	53.0	53.0					3																	53916116		1959	3735	5694	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.13G>C	3.37:g.53916116C>G	ENSP00000336842:p.Glu5Gln		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.E5Q	ENST00000335754.3	37	c.13	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817363	0.70912	.	.	ENSG00000113812	ENST00000335754	D	0.96830	-4.14	5.59	5.59	0.84812	.	0.256528	0.38663	N	0.001602	D	0.89563	0.6751	N	0.08118	0	0.80722	D	1	P	0.41673	0.759	B	0.32289	0.143	D	0.90820	0.4708	10	0.45353	T	0.12	-0.5254	16.3052	0.82844	0.0:1.0:0.0:0.0	.	5	Q9H981	ARP8_HUMAN	Q	5	ENSP00000336842:E5Q	ENSP00000336842:E5Q	E	-	1	0	ACTR8	53891156	1.000000	0.71417	0.996000	0.52242	0.369000	0.29798	5.759000	0.68785	2.636000	0.89361	0.655000	0.94253	GAG	ACTR8	-	NULL		0.682	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	C	NM_022899		53916116	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAM21	8747	genome.wustl.edu	37	14	70925266	70925266	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:70925266G>T	ENST00000603540.1	+	2	1308	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	ADAM21_ENST00000267499.3_Missense_Mutation_p.Q350H|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TAGGTATGCAGCATGATGAAG	0.408																																																	0													58.0	52.0	54.0					14																	70925266		2162	4263	6425	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1050G>T	14.37:g.70925266G>T	ENSP00000474385:p.Gln350His		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q350H	ENST00000603540.1	37	c.1050	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	1.573	-0.533566	0.04082	.	.	ENSG00000139985	ENST00000267499	T	0.63913	-0.07	4.36	-1.39	0.08997	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.567660	0.01914	N	0.040053	T	0.40595	0.1123	N	0.13272	0.32	0.18873	N	0.999985	B	0.06786	0.001	B	0.18263	0.021	T	0.11842	-1.0571	10	0.29301	T	0.29	.	0.8198	0.01109	0.247:0.335:0.1972:0.2208	.	350	Q9UKJ8	ADA21_HUMAN	H	350	ENSP00000267499:Q350H	ENSP00000267499:Q350H	Q	+	3	2	ADAM21	69995019	0.000000	0.05858	0.116000	0.21606	0.888000	0.51559	-0.971000	0.03806	-0.055000	0.13244	0.557000	0.71058	CAG	ADAM21	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.408	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	G			70925266	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.011	T
ADAM21P1	145241	genome.wustl.edu	37	14	70713328	70713328	+	RNA	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:70713328C>A	ENST00000530196.1	-	0	1190					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CTTCATCATGCTGCATACCCA	0.413																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713328C>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.413	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	C	NG_002467		70713328	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.644	A
ADAM21	8747	genome.wustl.edu	37	14	70926021	70926021	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:70926021C>G	ENST00000603540.1	+	2	2063	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	ADAM21_ENST00000267499.3_Missense_Mutation_p.S602C|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	602	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGAACATATCTGACATTGGT	0.428																																																	0													162.0	147.0	152.0					14																	70926021		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1805C>G	14.37:g.70926021C>G	ENSP00000474385:p.Ser602Cys		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S602C	ENST00000603540.1	37	c.1805	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	8.540	0.872952	0.17322	.	.	ENSG00000139985	ENST00000267499	T	0.24151	1.87	4.49	3.59	0.41128	ADAM, cysteine-rich (2);	0.864570	0.09618	U	0.777871	T	0.46210	0.1381	L	0.54323	1.7	0.09310	N	1	B	0.28400	0.21	P	0.51016	0.656	T	0.51482	-0.8700	10	0.87932	D	0	.	13.3535	0.60615	0.0:0.9187:0.0:0.0813	.	602	Q9UKJ8	ADA21_HUMAN	C	602	ENSP00000267499:S602C	ENSP00000267499:S602C	S	+	2	0	ADAM21	69995774	0.003000	0.15002	0.117000	0.21633	0.012000	0.07955	0.738000	0.26158	2.485000	0.83878	0.563000	0.77884	TCT	ADAM21	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.428	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	C			70926021	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.206	G
ADAM7	8756	genome.wustl.edu	37	8	24321394	24321394	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:24321394G>A	ENST00000175238.6	+	4	316		c.e4-1		RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|ADAM7_ENST00000441335.2_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTCTTTTTCAGGGAGTTCCTA	0.418																																																	0													122.0	112.0	115.0					8																	24321394		2203	4300	6503	SO:0001630	splice_region_variant	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.234-1G>A	8.37:g.24321394G>A			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e4-1	ENST00000175238.6	37	c.234-1	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387314	0.61956	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9823	0.64313	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24377284	1.000000	0.71417	0.950000	0.38849	0.817000	0.46193	4.082000	0.57635	2.762000	0.94881	0.563000	0.77884	.	ADAM7	-	-		0.418	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817	Intron	24321394	+1	no_errors	ENST00000175238	ensembl	human	known	70_37	splice_site	SNP	0.997	A
ADAM3A	1587	genome.wustl.edu	37	8	39380346	39380346	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:39380346C>T	ENST00000490268.2	-	0	21					NR_073423.1				ADAM metallopeptidase domain 3A (pseudogene)																		GCCGGCGGCCCAGCCACAGGG	0.701																																																	0																																												1587			X89657		8p11.22	2012-06-11	2012-06-11		ENSG00000197475	ENSG00000197475		"""ADAM metallopeptidase domain containing"""	209	pseudogene	pseudogene			"""cyritestin 1"", ""a disintegrin and metalloproteinase domain 3a (cyritestin 1)"", ""ADAM metallopeptidase domain 3A, pseudogene"", ""ADAM metallopeptidase domain 3A"""	CYRN1		9502432, 11439107	Standard	NR_024107		Approved	ADAM3, tMDCI	uc003xnf.4		OTTHUMG00000154991		8.37:g.39380346C>T				RNA	SNP	-	NULL	ENST00000490268.2	37	NULL		8																																																																																			ADAM3A	-	-		0.701	ADAM3A-005	KNOWN	basic	processed_transcript	ADAM3A	HGNC	pseudogene	OTTHUMT00000337953.1	C	NR_001569		39380346	-1	no_errors	ENST00000460383	ensembl	human	known	70_37	rna	SNP	0.000	T
ADAMTS19	171019	genome.wustl.edu	37	5	128983517	128983517	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:128983517G>A	ENST00000274487.4	+	12	2059	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	638	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGCCGGAGAGTGGAGCCTGT	0.532																																																	0													143.0	142.0	143.0					5																	128983517		2203	4300	6503	SO:0001819	synonymous_variant	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1914G>A	5.37:g.128983517G>A				Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E638	ENST00000274487.4	37	c.1914	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.532	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		128983517	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	silent	SNP	0.995	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84652068	84652068	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:84652068G>A	ENST00000286744.5	+	21	3912	c.3688G>A	c.(3688-3690)Gat>Aat	p.D1230N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1230N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1230	Ig-like C2-type 2.					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)			ATGGACCAAGGATGGAACCTT	0.368																																																	0													102.0	110.0	107.0					15																	84652068		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.3688G>A	15.37:g.84652068G>A	ENSP00000286744:p.Asp1230Asn		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.D1230N	ENST00000286744.5	37	c.3688	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517914	0.27211	.	.	ENSG00000156218	ENST00000286744	T	0.71579	-0.58	5.13	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188102	0.25906	N	0.027537	T	0.70579	0.3240	L	0.42632	1.34	0.48696	D	0.999691	P;D	0.52996	0.486;0.957	P;P	0.54401	0.54;0.751	T	0.64639	-0.6360	10	0.18276	T	0.48	.	13.3748	0.60732	0.0766:0.0:0.9234:0.0	.	1230;1230	P82987-2;P82987	.;ATL3_HUMAN	N	1230	ENSP00000286744:D1230N	ENSP00000286744:D1230N	D	+	1	0	ADAMTSL3	82443072	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.225000	0.58600	2.529000	0.85273	0.557000	0.71058	GAT	ADAMTSL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.368	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84652068	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTSL4	54507	genome.wustl.edu	37	1	150525585	150525585	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150525585C>T	ENST00000369038.2	+	3	491	c.290C>T	c.(289-291)cCc>cTc	p.P97L	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P97L|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P97L|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P97L|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	97					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCCTCCTCCCCCGGGGCCAG	0.672																																																	0													25.0	30.0	28.0					1																	150525585		2198	4291	6489	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.290C>T	1.37:g.150525585C>T	ENSP00000358034:p.Pro97Leu		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	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.P97L	ENST00000369038.2	37	c.290	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	4.155	0.027139	0.08054	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61980	0.15;0.06;0.36;0.06	4.18	3.27	0.37495	.	.	.	.	.	T	0.31702	0.0805	L	0.44542	1.39	0.09310	N	0.999997	B;B;B;B	0.24823	0.038;0.053;0.077;0.112	B;B;B;B	0.24269	0.01;0.052;0.034;0.022	T	0.20974	-1.0259	9	0.37606	T	0.19	.	8.1879	0.31350	0.0:0.8859:0.0:0.1141	.	97;97;97;97	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	L	97	ENSP00000358037:P97L;ENSP00000271643:P97L;ENSP00000358035:P97L;ENSP00000358034:P97L	ENSP00000271643:P97L	P	+	2	0	ADAMTSL4	148792209	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.879000	0.28146	0.761000	0.33130	-0.224000	0.12420	CCC	ADAMTSL4	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.672	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	C	NM_019032		150525585	+1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.001	T
ADCY10	55811	genome.wustl.edu	37	1	167825584	167825584	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:167825584G>C	ENST00000367851.4	-	17	2174	c.1990C>G	c.(1990-1992)Ctt>Gtt	p.L664V	ADCY10_ENST00000367848.1_Missense_Mutation_p.L572V|ADCY10_ENST00000545172.1_Missense_Mutation_p.L511V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	664					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGATAGGAAGAGTCCGGATA	0.443																																																	0													195.0	190.0	191.0					1																	167825584		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1990C>G	1.37:g.167825584G>C	ENSP00000356825:p.Leu664Val		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L664V	ENST00000367851.4	37	c.1990	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.317022	0.00235	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.64260	-0.09;-0.09;-0.09	5.68	-5.52	0.02560	.	0.944520	0.08825	N	0.888176	T	0.07324	0.0185	N	0.00926	-1.1	0.22001	N	0.999423	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.20306	-1.0279	9	0.08381	T	0.77	-4.0966	6.7231	0.23340	0.0:0.2348:0.3335:0.4317	.	511;572;664	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	V	511;664;572	ENSP00000441992:L511V;ENSP00000356825:L664V;ENSP00000356822:L572V	ENSP00000356822:L572V	L	-	1	0	ADCY10	166092208	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.392000	0.02523	-0.722000	0.04922	-0.147000	0.13772	CTT	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	G	NM_018417		167825584	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.000	C
ADCK3	56997	genome.wustl.edu	37	1	227171315	227171315	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:227171315G>C	ENST00000366779.1	+	14	3914	c.1143G>C	c.(1141-1143)atG>atC	p.M381I	ADCK3_ENST00000458507.2_Missense_Mutation_p.M102I|ADCK3_ENST00000433743.2_Missense_Mutation_p.M55I|ADCK3_ENST00000366778.1_Missense_Mutation_p.M329I|ADCK3_ENST00000366777.3_Missense_Mutation_p.M381I|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	381	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGTTGAACATGAGCAACATGC	0.592																																																	0													102.0	81.0	88.0					1																	227171315		2203	4300	6503	SO:0001583	missense	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1143G>C	1.37:g.227171315G>C	ENSP00000355741:p.Met381Ile		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.M381I	ENST00000366779.1	37	c.1143	CCDS1557.1	1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977534	0.18812	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.38	5.38	0.77491	ABC-1 (1);Protein kinase-like domain (1);	0.035281	0.85682	D	0.000000	T	0.38188	0.1031	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.21688	0.001;0.059	B;B	0.21708	0.012;0.036	T	0.10965	-1.0607	10	0.30078	T	0.28	-41.9553	19.1069	0.93300	0.0:0.0:1.0:0.0	.	55;381	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	I	381;329;381;306;102;226;332;55	ENSP00000355741:M381I;ENSP00000355740:M329I;ENSP00000355739:M381I;ENSP00000355738:M306I;ENSP00000403704:M102I;ENSP00000355737:M226I;ENSP00000404550:M55I	ENSP00000355737:M226I	M	+	3	0	ADCK3	225237938	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.896000	0.56266	2.525000	0.85131	0.462000	0.41574	ATG	ADCK3	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	G	NM_020247		227171315	+1	no_errors	ENST00000366777	ensembl	human	known	70_37	missense	SNP	1.000	C
ADCY5	111	genome.wustl.edu	37	3	123010071	123010071	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:123010071G>C	ENST00000462833.1	-	18	4428	c.3216C>G	c.(3214-3216)gtC>gtG	p.V1072V	ADCY5_ENST00000309879.5_Silent_p.V722V|ADCY5_ENST00000491190.1_Silent_p.V730V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1072	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGCGAACATGACCGCCACAC	0.587																																																	0													102.0	81.0	89.0					3																	123010071		2203	4300	6503	SO:0001819	synonymous_variant	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3216C>G	3.37:g.123010071G>C			B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1072	ENST00000462833.1	37	c.3216	CCDS3022.1	3																																																																																			ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.587	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123010071	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	silent	SNP	1.000	C
AFAP1	60312	genome.wustl.edu	37	4	7787927	7787927	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:7787927G>A	ENST00000360265.4	-	11	1758	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	AFAP1_ENST00000382543.3_Silent_p.N508N|AFAP1_ENST00000358461.2_Silent_p.N508N|AFAP1_ENST00000420658.1_Silent_p.N508N|AFAP1_ENST00000513842.1_5'UTR			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	508						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCACCGAGCCGTTGATGCACG	0.522																																																	0													92.0	91.0	92.0					4																	7787927		2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1524C>T	4.37:g.7787927G>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N508	ENST00000360265.4	37	c.1524	CCDS3397.1	4																																																																																			AFAP1	-	NULL		0.522	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	G	NM_021638		7787927	-1	no_errors	ENST00000420658	ensembl	human	known	70_37	silent	SNP	0.997	A
AFP	174	genome.wustl.edu	37	4	74321433	74321433	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:74321433G>A	ENST00000395792.2	+	0	2026				AFP_ENST00000506820.1_3'UTR|AFP_ENST00000226359.2_3'UTR	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGAATTAATGAAATGATAAA	0.294									Alpha-Fetoprotein, Hereditary Persistence of																																								0																																										SO:0001624	3_prime_UTR_variant	174	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.*96G>A	4.37:g.74321433G>A			B2RBU3	RNA	SNP	-	NULL	ENST00000395792.2	37	NULL	CCDS3556.1	4																																																																																			AFP	-	-		0.294	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	G			74321433	+1	no_errors	ENST00000506820	ensembl	human	known	70_37	rna	SNP	0.003	A
AGRN	375790	genome.wustl.edu	37	1	981451	981451	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:981451G>A	ENST00000379370.2	+	16	2838	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	930	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CACCTGTCCAGAGGCCAACGC	0.637																																																	0													155.0	151.0	152.0					1																	981451		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2788G>A	1.37:g.981451G>A	ENSP00000368678:p.Glu930Lys		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.E930K	ENST00000379370.2	37	c.2788	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231012	0.58777	.	.	ENSG00000188157	ENST00000379370	T	0.04360	3.64	5.6	4.69	0.59074	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.257150	0.30244	N	0.010062	T	0.08891	0.0220	L	0.41124	1.26	0.58432	D	0.999995	B	0.30584	0.286	B	0.43867	0.434	T	0.34329	-0.9833	10	0.32370	T	0.25	-17.6819	12.808	0.57624	0.0762:0.0:0.9238:0.0	.	930	O00468	AGRIN_HUMAN	K	930	ENSP00000368678:E930K	ENSP00000368678:E930K	E	+	1	0	AGRN	971314	0.330000	0.24705	0.441000	0.26858	0.051000	0.14879	3.299000	0.51826	1.365000	0.46057	0.655000	0.94253	GAG	AGRN	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_EG-like_dom,smart_Prot_inh_Kazal		0.637	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	G	NM_198576		981451	+1	no_errors	ENST00000379370	ensembl	human	known	70_37	missense	SNP	0.996	A
AIM1	202	genome.wustl.edu	37	6	106968381	106968381	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:106968381G>A	ENST00000369066.3	+	2	2561	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGTGTATTTGATTCTTCTTC	0.418																																																	0													50.0	54.0	53.0					6																	106968381		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2074G>A	6.37:g.106968381G>A	ENSP00000358062:p.Asp692Asn		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D692N	ENST00000369066.3	37	c.2074	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799020	0.90538	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.82433	-1.61	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000010	D	0.89068	0.6610	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87899	0.2689	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	692	Q9Y4K1	AIM1_HUMAN	N	1100;692	ENSP00000358062:D692N	ENSP00000285105:D1100N	D	+	1	0	AIM1	107075074	1.000000	0.71417	0.972000	0.41901	0.782000	0.44232	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	GAT	AIM1	-	NULL		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106968381	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.999	A
AIM1	202	genome.wustl.edu	37	6	106968393	106968393	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:106968393G>A	ENST00000369066.3	+	2	2573	c.2086G>A	c.(2086-2088)Gat>Aat	p.D696N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCTTCTTCTGATATGGAAAA	0.418																																																	0													51.0	56.0	54.0					6																	106968393		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2086G>A	6.37:g.106968393G>A	ENSP00000358062:p.Asp696Asn		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.D696N	ENST00000369066.3	37	c.2086	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.167501	0.94768	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	D	0.82433	-1.61	6.17	6.17	0.99709	.	0.434279	0.21445	N	0.074422	D	0.89842	0.6832	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89140	0.3516	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	696	Q9Y4K1	AIM1_HUMAN	N	1104;696	ENSP00000358062:D696N	ENSP00000285105:D1104N	D	+	1	0	AIM1	107075086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	GAT	AIM1	-	NULL		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			106968393	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	1.000	A
AK5	26289	genome.wustl.edu	37	1	78024354	78024354	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:78024354G>A	ENST00000354567.2	+	14	1951	c.1688G>A	c.(1687-1689)tGa>tAa	p.*563*	AK5_ENST00000478255.1_Silent_p.*78*|AK5_ENST00000344720.5_Silent_p.*537*	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	0					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCTATTTTCTGAAGGCAAAAA	0.348																																																	0													92.0	81.0	85.0					1																	78024354		2203	4300	6503	SO:0001819	synonymous_variant	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1688G>A	1.37:g.78024354G>A			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.*563	ENST00000354567.2	37	c.1688	CCDS675.1	1																																																																																			AK5	-	NULL		0.348	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	G	NM_174858		78024354	+1	no_errors	ENST00000354567	ensembl	human	known	70_37	silent	SNP	1.000	A
AK7	122481	genome.wustl.edu	37	14	96864562	96864562	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:96864562G>C	ENST00000267584.4	+	2	300	c.256G>C	c.(256-258)Gac>Cac	p.D86H	AK7_ENST00000555570.1_Missense_Mutation_p.D86H|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	86					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTCCAAGCCTGACAGCCCGCG	0.552																																																	0													106.0	94.0	99.0					14																	96864562		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.256G>C	14.37:g.96864562G>C	ENSP00000267584:p.Asp86His		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.D86H	ENST00000267584.4	37	c.256	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460208	0.26248	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.55930	0.49	5.35	3.53	0.40419	.	1.259840	0.05591	N	0.574614	T	0.49474	0.1559	L	0.48642	1.525	0.09310	N	1	B;P	0.43094	0.011;0.799	B;B	0.41202	0.007;0.35	T	0.36089	-0.9762	10	0.46703	T	0.11	-3.1775	8.1712	0.31256	0.3113:0.0:0.6887:0.0	.	86;86	Q96M32;G3V365	KAD7_HUMAN;.	H	86	ENSP00000267584:D86H	ENSP00000267584:D86H	D	+	1	0	AK7	95934315	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.259000	0.18405	0.656000	0.30886	0.491000	0.48974	GAC	AK7	-	NULL		0.552	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96864562	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.001	C
AK8	158067	genome.wustl.edu	37	9	135703409	135703409	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:135703409G>C	ENST00000298545.3	-	7	1068	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	183	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCTCCAGTTTGAGGGTCGATT	0.557																																																	0													82.0	58.0	67.0					9																	135703409		2201	4291	6492	SO:0001583	missense	158067			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.547C>G	9.37:g.135703409G>C	ENSP00000298545:p.Gln183Glu		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.Q183E	ENST00000298545.3	37	c.547	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776833	0.00640	.	.	ENSG00000165695	ENST00000298545	T	0.65364	-0.15	5.78	-1.45	0.08828	Adenylate kinase, active site lid domain (1);	1.419950	0.03999	N	0.296249	T	0.35998	0.0951	N	0.13235	0.315	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.24512	-1.0158	10	0.02654	T	1	0.0133	2.274	0.04097	0.2513:0.3272:0.3104:0.1111	.	183	Q96MA6	KAD8_HUMAN	E	183	ENSP00000298545:Q183E	ENSP00000298545:Q183E	Q	-	1	0	AK8	134693230	0.000000	0.05858	0.040000	0.18447	0.007000	0.05969	-0.240000	0.08952	-0.110000	0.12022	-0.251000	0.11542	CAA	AK8	-	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	G	NM_152572		135703409	-1	no_errors	ENST00000298545	ensembl	human	known	70_37	missense	SNP	0.003	C
AKAP12	9590	genome.wustl.edu	37	6	151672053	151672053	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:151672053G>A	ENST00000253332.1	+	3	2716	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I	AKAP12_ENST00000354675.6_Missense_Mutation_p.V745I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V738I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V843I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	843					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGACTCTGATGTCCCGGCCGT	0.542																																					Melanoma(141;1616 1805 10049 24534 51979)												0													91.0	103.0	99.0					6																	151672053		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2527G>A	6.37:g.151672053G>A	ENSP00000253332:p.Val843Ile		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V843I	ENST00000253332.1	37	c.2527	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787523	0.16258	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08102	3.13;3.13;3.15;3.15	5.49	3.47	0.39725	.	0.187507	0.26341	N	0.024931	T	0.02888	0.0086	L	0.47716	1.5	0.36535	D	0.870974	B;B;B	0.31318	0.319;0.319;0.214	B;B;B	0.26416	0.069;0.069;0.031	T	0.37619	-0.9698	10	0.33940	T	0.23	.	8.8997	0.35487	0.2929:0.0:0.7071:0.0	.	738;745;843	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	843;843;745;738	ENSP00000384537:V843I;ENSP00000253332:V843I;ENSP00000346702:V745I;ENSP00000352794:V738I	ENSP00000253332:V843I	V	+	1	0	AKAP12	151713746	0.991000	0.36638	0.760000	0.31359	0.017000	0.09413	2.705000	0.47127	1.330000	0.45394	0.561000	0.74099	GTC	AKAP12	-	NULL		0.542	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	G			151672053	+1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.943	A
AKAP13	11214	genome.wustl.edu	37	15	86118455	86118455	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:86118455C>G	ENST00000394518.2	+	6	851	c.756C>G	c.(754-756)atC>atG	p.I252M	AKAP13_ENST00000361243.2_Missense_Mutation_p.I252M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	252					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTGGACATCTATACATTAA	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													169.0	156.0	160.0					15																	86118455		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.756C>G	15.37:g.86118455C>G	ENSP00000378026:p.Ile252Met		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.I252M	ENST00000394518.2	37	c.756	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402324	0.62288	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.60424	0.19;0.19	5.2	3.25	0.37280	.	.	.	.	.	T	0.50939	0.1645	N	0.22421	0.69	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.54312	0.564;0.748	T	0.53019	-0.8497	9	0.72032	D	0.01	.	6.3551	0.21397	0.0:0.7734:0.0:0.2266	.	252;252	Q12802;Q12802-2	AKP13_HUMAN;.	M	252;252;251;251	ENSP00000354718:I252M;ENSP00000378026:I252M	ENSP00000354718:I252M	I	+	3	3	AKAP13	83919459	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.090000	0.30902	1.469000	0.48083	0.655000	0.94253	ATC	AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86118455	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP4	8852	genome.wustl.edu	37	X	49957243	49957243	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49957243G>C	ENST00000376056.2	-	5	2244	c.2094C>G	c.(2092-2094)ctC>ctG	p.L698L	AKAP4_ENST00000358526.2_Silent_p.L707L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.L698L|AKAP4_ENST00000376058.2_Silent_p.L324L					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGATAAGGCAGAGCTTCATCA	0.468																																																	0													109.0	88.0	95.0					X																	49957243		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2094C>G	X.37:g.49957243G>C				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L707	ENST00000376056.2	37	c.2121	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	G	NM_003886		49957243	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	silent	SNP	0.987	C
AKAP6	9472	genome.wustl.edu	37	14	33291487	33291487	+	Missense_Mutation	SNP	G	G	C	rs374979745		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:33291487G>C	ENST00000280979.4	+	13	4638	c.4468G>C	c.(4468-4470)Gaa>Caa	p.E1490Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1490					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCACAAAGCGAAAAAGCGCA	0.353																																					Melanoma(49;821 1200 7288 13647 42351)												0													72.0	70.0	71.0					14																	33291487		2203	4300	6503	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4468G>C	14.37:g.33291487G>C	ENSP00000280979:p.Glu1490Gln		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.E1490Q	ENST00000280979.4	37	c.4468	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788236	0.49997	.	.	ENSG00000151320	ENST00000280979	T	0.08282	3.11	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.00435	-1.1741	10	0.87932	D	0	-18.0805	17.9955	0.89182	0.0:0.0:1.0:0.0	.	1490	Q13023	AKAP6_HUMAN	Q	1490	ENSP00000280979:E1490Q	ENSP00000280979:E1490Q	E	+	1	0	AKAP6	32361238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.394000	0.73223	2.685000	0.91497	0.655000	0.94253	GAA	AKAP6	-	NULL		0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	G	NM_004274		33291487	+1	no_errors	ENST00000280979	ensembl	human	known	70_37	missense	SNP	1.000	C
ALDOA	226	genome.wustl.edu	37	16	30077131	30077131	+	5'UTR	SNP	C	C	T	rs574106376	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30077131C>T	ENST00000564546.1	+	0	663				ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000569798.1_5'UTR|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000395240.3_5'UTR|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000564595.2_5'UTR|ALDOA_ENST00000395248.1_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTTCCTCTCGGAACGCGCC	0.711																																																	0																																										SO:0001623	5_prime_UTR_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000564546.1:c.-139C>T	16.37:g.30077131C>T			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	RNA	SNP	-	NULL	ENST00000564546.1	37	NULL	CCDS10668.1	16																																																																																			ALDOA	-	-		0.711	ALDOA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000255145.3	C	NM_000034		30077131	+1	no_errors	ENST00000566012	ensembl	human	known	70_37	rna	SNP	0.791	T
ALG13	79868	genome.wustl.edu	37	X	110970137	110970137	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:110970137C>T	ENST00000394780.3	+	16	1842	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	ALG13_ENST00000251943.4_Silent_p.L506L|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	610					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAGACCCCCTCCTCCCACCCA	0.448																																																	0													226.0	196.0	205.0					X																	110970137		1568	3582	5150	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1830C>T	X.37:g.110970137C>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.L506	ENST00000394780.3	37	c.1518	CCDS55477.1	X																																																																																			ALG13	-	NULL		0.448	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110970137	+1	no_errors	ENST00000251943	ensembl	human	known	70_37	silent	SNP	0.000	T
ALKBH8	91801	genome.wustl.edu	37	11	107393059	107393059	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:107393059C>T	ENST00000428149.2	-	10	1404	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	ALKBH8_ENST00000389568.3_Missense_Mutation_p.G418E|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.G421E	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	418	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAGATACTTTCCATTACCACA	0.398																																																	0													200.0	152.0	166.0					11																	107393059		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1253G>A	11.37:g.107393059C>T	ENSP00000415885:p.Gly418Glu		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.G421E	ENST00000428149.2	37	c.1262	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943804	0.92593	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	D;D;D	0.88975	-2.45;-2.45;-2.45	5.69	5.69	0.88448	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.99952	5.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99525	1.0959	10	0.87932	D	0	-13.4998	18.7888	0.91965	0.0:1.0:0.0:0.0	.	418;421	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	E	418;418;421	ENSP00000415885:G418E;ENSP00000374219:G418E;ENSP00000397673:G421E	ENSP00000374219:G418E	G	-	2	0	ALKBH8	106898269	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.497000	0.81536	2.689000	0.91719	0.585000	0.79938	GGA	ALKBH8	-	pfam_Methyltransf_11,pfam_Methyltransferase-rel		0.398	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	C	NM_138775		107393059	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	1.000	T
ALS2CR11	151254	genome.wustl.edu	37	2	202410322	202410322	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:202410322G>C	ENST00000286195.3	-	11	1150	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S369C|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S369C|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.S369C	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	369										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CGTGTTTTCAGATGCCTCATC	0.234																																																	0													56.0	58.0	57.0					2																	202410322		2202	4286	6488	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1106C>G	2.37:g.202410322G>C	ENSP00000286195:p.Ser369Cys		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S369C	ENST00000286195.3	37	c.1106	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	7.515	0.655538	0.14580	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.22	-5.97	0.02227	.	3.532340	0.00970	N	0.003235	T	0.51550	0.1681	L	0.46157	1.445	0.09310	N	1	P;P;D	0.59767	0.924;0.681;0.986	P;B;P	0.56042	0.534;0.325;0.79	T	0.58858	-0.7562	10	0.52906	T	0.07	.	7.4306	0.27126	0.1971:0.1387:0.6641:0.0	.	369;369;369	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	C	369	ENSP00000286195:S369C;ENSP00000400672:S369C;ENSP00000409937:S369C;ENSP00000399016:S369C	ENSP00000286195:S369C	S	-	2	0	ALS2CR11	202118567	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.757000	0.04772	-1.353000	0.02191	0.484000	0.47621	TCT	ALS2CR11	-	NULL		0.234	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	G	NM_152525		202410322	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	missense	SNP	0.000	C
AMN1	196394	genome.wustl.edu	37	12	31882028	31882028	+	5'UTR	SNP	G	G	A	rs114266500	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:31882028G>A	ENST00000281471.6	-	0	80				AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000541541.1_5'Flank|AMN1_ENST00000536761.1_5'Flank|AMN1_ENST00000542781.1_5'Flank|AMN1_ENST00000537562.1_5'Flank	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)											breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCCACCGCGCGACGCGTAGGT	0.667																																																	0																																										SO:0001623	5_prime_UTR_variant	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.-86C>T	12.37:g.31882028G>A			B7Z7J3|Q6NVU4|Q86X98	RNA	SNP	-	NULL	ENST00000281471.6	37	NULL	CCDS44858.1	12																																																																																			AMN1	-	-		0.667	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN1	HGNC	protein_coding	OTTHUMT00000402807.2	G	NR_004854		31882028	-1	no_errors	ENST00000509386	ensembl	human	known	70_37	rna	SNP	0.000	A
ANGPT1	284	genome.wustl.edu	37	8	108509553	108509553	+	IGR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:108509553G>C								ANGPT1 (160803 upstream) : RNA5SP275 (387168 downstream)																							TCTGGGAAGAGAAATCCGGTT	0.448																																																	0													174.0	158.0	163.0					8																	108509553		2203	4300	6503	SO:0001628	intergenic_variant	284																															8.37:g.108509553G>C				Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.F78L		37	c.234		8	.	.	.	.	.	.	.	.	.	.	G	3.710	-0.059821	0.07317	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	D;D	0.84442	-1.85;-1.85	6.06	4.25	0.50352	.	0.203180	0.35646	N	0.003062	T	0.67477	0.2897	N	0.04880	-0.145	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.58188	-0.7680	10	0.10902	T	0.67	.	11.8674	0.52501	0.0656:0.1233:0.8111:0.0	.	78;78	Q5HYA0;Q15389	.;ANGP1_HUMAN	L	78	ENSP00000428340:F78L;ENSP00000297450:F78L	ENSP00000297450:F78L	F	-	3	2	ANGPT1	108578729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.405000	0.52630	0.865000	0.35603	0.650000	0.86243	TTC	ANGPT1	-	NULL	0	0.448					ANGPT1	HGNC			G			108509553	-1	no_errors	ENST00000517746	ensembl	human	known	70_37	missense	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114170951	114170951	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:114170951G>A	ENST00000357077.4	+	10	976	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R287Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R308Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R308Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	308					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGCTGCACGAAGTGGGCAT	0.458																																																	0													99.0	93.0	95.0					4																	114170951		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.923G>A	4.37:g.114170951G>A	ENSP00000349588:p.Arg308Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R308Q	ENST00000357077.4	37	c.923	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949275	0.92660	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65549	-0.16;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.82	5.82	0.92795	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000125	T	0.69717	0.3142	N	0.17631	0.505	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	0.91635	0.999;0.999;0.998;0.998;0.979	T	0.71672	-0.4522	10	0.52906	T	0.07	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	308;308;308;287;287	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	287;287;287;323;308;308;308;287	ENSP00000423799:R287Q;ENSP00000421011:R287Q;ENSP00000421067:R287Q;ENSP00000424722:R323Q;ENSP00000378044:R308Q;ENSP00000349588:R308Q;ENSP00000264366:R308Q	ENSP00000264366:R308Q	R	+	2	0	ANK2	114390400	1.000000	0.71417	0.066000	0.19879	0.619000	0.37552	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	CGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114170951	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.695	A
ANK3	288	genome.wustl.edu	37	10	61926591	61926591	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:61926591C>G	ENST00000280772.2	-	22	2733	c.2542G>C	c.(2542-2544)Gat>Cat	p.D848H	ANK3_ENST00000460468.1_Missense_Mutation_p.D15H|ANK3_ENST00000503366.1_Missense_Mutation_p.D831H|ANK3_ENST00000373827.2_Missense_Mutation_p.D842H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	848					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTCATCATCAGACATATCA	0.328																																																	0													157.0	147.0	151.0					10																	61926591		2202	4299	6501	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2542G>C	10.37:g.61926591C>G	ENSP00000280772:p.Asp848His		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D848H	ENST00000280772.2	37	c.2542	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962065	0.74016	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348;ENST00000460468;ENST00000474360	T;T;T;T	0.71817	-0.6;2.19;-0.34;2.19	5.42	4.51	0.55191	.	0.000000	0.41500	D	0.000861	D	0.83972	0.5370	M	0.77820	2.39	0.58432	D	0.999998	B;P;D;D;D;D	0.89917	0.066;0.69;0.998;1.0;1.0;1.0	B;P;P;D;D;D	0.85130	0.057;0.532;0.905;0.977;0.95;0.997	D	0.86400	0.1741	10	0.87932	D	0	.	15.4591	0.75339	0.14:0.86:0.0:0.0	.	831;509;392;842;848;83	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0	.;.;.;.;ANK3_HUMAN;.	H	848;842;831;810;83;509;504;392;15;22	ENSP00000280772:D848H;ENSP00000362933:D842H;ENSP00000425236:D831H;ENSP00000426690:D15H	ENSP00000280772:D848H	D	-	1	0	ANK3	61596597	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	7.818000	0.86416	1.263000	0.44181	0.650000	0.86243	GAT	ANK3	-	NULL		0.328	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61926591	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	0.999	G
ANKHD1	54882	genome.wustl.edu	37	5	139815719	139815719	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:139815719C>G	ENST00000360839.2	+	2	491	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ANKHD1_ENST00000297183.6_Missense_Mutation_p.L113V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L113V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L113V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L113V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	113						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGATCTGGATAACCC	0.358																																																	0													59.0	62.0	61.0					5																	139815719		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.337C>G	5.37:g.139815719C>G	ENSP00000354085:p.Leu113Val		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L113V	ENST00000360839.2	37	c.337	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926934	0.52759	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.70631	-0.39;-0.43;-0.31;-0.2;-0.5;-0.18;-0.43	5.47	1.07	0.20283	.	0.000000	0.64402	D	0.000009	T	0.70176	0.3194	L	0.27053	0.805	0.50171	D	0.999856	P;D;D;P;P	0.69078	0.925;0.997;0.997;0.73;0.753	P;D;D;B;B	0.72625	0.73;0.978;0.978;0.312;0.381	T	0.66168	-0.5991	10	0.51188	T	0.08	.	8.6417	0.33981	0.0:0.5733:0.0:0.4267	.	113;113;113;113;113	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	113;127;113;113;113;113;113;113;113	ENSP00000354085:L113V;ENSP00000297183:L113V;ENSP00000394489:L113V;ENSP00000378212:L113V;ENSP00000421069:L113V;ENSP00000378211:L113V;ENSP00000432016:L113V	ENSP00000432016:L113V	L	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139795903	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	1.322000	0.33689	-0.124000	0.11724	0.655000	0.94253	CTG	ANKHD1	-	NULL		0.358	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	C	NM_017747		139815719	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD30BL	554226	genome.wustl.edu	37	2	132905499	132905499	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:132905499G>A	ENST00000409867.1	-	0	1231				ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ctagaagggggctgtttaatg	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.*205C>T	2.37:g.132905499G>A			B8ZZL7	RNA	SNP	-	NULL	ENST00000409867.1	37	NULL		2																																																																																			ANKRD30BL	-	-		0.423	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331353.2	G	NR_027019		132905499	-1	no_errors	ENST00000465868	ensembl	human	known	70_37	rna	SNP	0.357	A
ANKRD54	129138	genome.wustl.edu	37	22	38227784	38227784	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38227784G>C	ENST00000215941.4	-	0	1261				ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					GAGTGGCTCTGAGGCCGTGGA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	129138			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.*166C>G	22.37:g.38227784G>C			Q6ZSB1|Q9UGV1	RNA	SNP	-	NULL	ENST00000215941.4	37	NULL	CCDS13959.1	22																																																																																			ANKRD54	-	-		0.602	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	G	NM_138797		38227784	-1	no_errors	ENST00000498417	ensembl	human	known	70_37	rna	SNP	0.337	C
ANKRD54	129138	genome.wustl.edu	37	22	38228006	38228006	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38228006G>C	ENST00000215941.4	-	8	1039	c.847C>G	c.(847-849)Ctc>Gtc	p.L283V	ANKRD54_ENST00000411961.2_Missense_Mutation_p.L267V|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L163V|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L90V	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	283	Nuclear export signal (NES). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CTGGCCAGGAGGTCAGTCACT	0.612																																																	0													80.0	59.0	66.0					22																	38228006		2203	4300	6503	SO:0001583	missense	129138			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.847C>G	22.37:g.38228006G>C	ENSP00000215941:p.Leu283Val		Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L283V	ENST00000215941.4	37	c.847	CCDS13959.1	22	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813838	0.70912	.	.	ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961	T;T;T	0.74209	-0.7;-0.4;-0.82	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	L	0.29908	0.895	0.58432	D	0.999999	P;D	0.63880	0.948;0.993	B;D	0.76071	0.36;0.987	T	0.82663	-0.0346	10	0.87932	D	0	-0.1796	20.1054	0.97890	0.0:0.0:1.0:0.0	.	163;283	B5MCX7;Q6NXT1	.;ANR54_HUMAN	V	283;163;267	ENSP00000215941:L283V;ENSP00000384392:L163V;ENSP00000405782:L267V	ENSP00000215941:L283V	L	-	1	0	ANKRD54	36557952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.331000	0.72929	2.757000	0.94681	0.655000	0.94253	CTC	ANKRD54	-	NULL		0.612	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	G	NM_138797		38228006	-1	no_errors	ENST00000215941	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD55	79722	genome.wustl.edu	37	5	55472045	55472045	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:55472045C>G	ENST00000341048.4	-	4	397	c.246G>C	c.(244-246)aaG>aaC	p.K82N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.K82N|ANKRD55_ENST00000513241.2_Missense_Mutation_p.K53N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	82										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGGCTCCCATCTTCAACAGCA	0.507																																																	0													180.0	152.0	161.0					5																	55472045		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.246G>C	5.37:g.55472045C>G	ENSP00000342295:p.Lys82Asn		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K82N	ENST00000341048.4	37	c.246	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805471	0.70682	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.65178	-0.14;-0.14;-0.14	5.49	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	N	0.11818	0.18	0.45822	D	0.998694	D	0.89917	1.0	D	0.91635	0.999	T	0.50849	-0.8779	10	0.10902	T	0.67	.	9.2035	0.37275	0.0:0.7743:0.0:0.2257	.	82	B3KVT8	.	N	82;82;82;53;82	ENSP00000342295:K82N;ENSP00000424230:K82N;ENSP00000423507:K53N	ENSP00000342295:K82N	K	-	3	2	ANKRD55	55507802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.790000	0.38734	0.674000	0.31244	-0.244000	0.11960	AAG	ANKRD55	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.507	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	C	NM_024669		55472045	-1	no_errors	ENST00000341048	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD62	342850	genome.wustl.edu	37	18	12122443	12122443	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:12122443C>G	ENST00000587848.2	+	11	1547	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Missense_Mutation_p.S447C			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	461										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						AAGGTACTATCTGAAACAGAC	0.299																																																	0																																										SO:0001583	missense	342850			BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.1382C>G	18.37:g.12122443C>G	ENSP00000467740:p.Ser461Cys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S447C	ENST00000587848.2	37	c.1340		18	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260446	0.23051	.	.	ENSG00000181626	ENST00000314074;ENST00000418274	T;T	0.26957	1.7;1.7	1.74	1.74	0.24563	.	.	.	.	.	T	0.30198	0.0757	M	0.67397	2.05	0.09310	N	1	D	0.67145	0.996	P	0.47941	0.562	T	0.16276	-1.0408	9	0.66056	D	0.02	.	6.0831	0.19952	0.0:0.6733:0.3266:0.0	.	461	A6NC57	ANR62_HUMAN	C	447;183	ENSP00000326572:S447C;ENSP00000405628:S183C	ENSP00000326572:S447C	S	+	2	0	ANKRD62	12112443	0.155000	0.22806	0.050000	0.19076	0.026000	0.11368	0.528000	0.23002	1.266000	0.44231	0.393000	0.25936	TCT	ANKRD62	-	NULL		0.299	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	C	XM_001715728		12122443	+1	no_errors	ENST00000314074	ensembl	human	known	70_37	missense	SNP	0.242	G
ANO2	57101	genome.wustl.edu	37	12	5672735	5672735	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:5672735C>G	ENST00000356134.5	-	27	2802		c.e27-1		ANO2_ENST00000546188.1_Splice_Site|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCACGAGGTTCTGCAAAAAGC	0.562																																																	0													76.0	71.0	73.0					12																	5672735		1970	4175	6145	SO:0001630	splice_region_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2731-1G>C	12.37:g.5672735C>G			C4N787|Q9H847	Splice_Site	SNP	-	e27-1	ENST00000356134.5	37	c.2731-1		12	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277435	0.59758	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO2	5542996	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	7.770000	0.85390	2.369000	0.80426	0.555000	0.69702	.	ANO2	-	-		0.562	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	C	NM_020373	Intron	5672735	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ANO6	196527	genome.wustl.edu	37	12	45725135	45725135	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:45725135G>C	ENST00000320560.8	+	3	410	c.208G>C	c.(208-210)Gac>Cac	p.D70H	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D70H|ANO6_ENST00000425752.2_Missense_Mutation_p.D70H|ANO6_ENST00000423947.3_Missense_Mutation_p.D91H|ANO6_ENST00000441606.2_Missense_Mutation_p.D52H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	70					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCGAAGAATTGACTTTGTTCT	0.299																																																	0													71.0	76.0	74.0					12																	45725135		2203	4299	6502	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.208G>C	12.37:g.45725135G>C	ENSP00000320087:p.Asp70His		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.D70H	ENST00000320560.8	37	c.208	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388491	0.82902	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.89217	0.3568	10	0.87932	D	0	.	18.3196	0.90232	0.0:0.0:1.0:0.0	.	52;91;70;70	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	70;91;70;70;52	ENSP00000391417:D70H;ENSP00000409126:D91H;ENSP00000413840:D70H;ENSP00000320087:D70H;ENSP00000413137:D52H	ENSP00000320087:D70H	D	+	1	0	ANO6	44011402	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.638000	0.83328	2.793000	0.96121	0.591000	0.81541	GAC	ANO6	-	NULL		0.299	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	G	XM_113743		45725135	+1	no_errors	ENST00000425752	ensembl	human	known	70_37	missense	SNP	1.000	C
ANXA13	312	genome.wustl.edu	37	8	124707800	124707800	+	Missense_Mutation	SNP	G	G	A	rs201946511		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:124707800G>A	ENST00000419625.1	-	6	485	c.413C>T	c.(412-414)tCa>tTa	p.S138L	ANXA13_ENST00000262219.6_Missense_Mutation_p.S179L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	138					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGACATCTGATTCGAGGCT	0.383																																																	0													149.0	150.0	150.0					8																	124707800		2203	4300	6503	SO:0001583	missense	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.413C>T	8.37:g.124707800G>A	ENSP00000390809:p.Ser138Leu		Q9BQR5	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.S179L	ENST00000419625.1	37	c.536	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370759	0.61624	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.03553	3.89;3.89;3.89	6.04	6.04	0.98038	Annexin repeat, conserved site (1);	0.166280	0.53938	D	0.000041	T	0.24470	0.0593	M	0.86343	2.81	0.50813	D	0.999895	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00216	-1.1910	10	0.62326	D	0.03	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	138;179	P27216;P27216-2	ANX13_HUMAN;.	L	179;138;109	ENSP00000262219:S179L;ENSP00000390809:S138L;ENSP00000429358:S109L	ENSP00000262219:S179L	S	-	2	0	ANXA13	124776981	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.594000	0.67557	2.873000	0.98535	0.561000	0.74099	TCA	ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.383	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124707800	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	missense	SNP	1.000	A
ANXA3	306	genome.wustl.edu	37	4	79475635	79475635	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:79475635C>G	ENST00000264908.6	+	2	387	c.8C>G	c.(7-9)tCt>tGt	p.S3C	ANXA3_ENST00000512884.1_5'UTR|ANXA3_ENST00000503570.2_5'UTR	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	3					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATCATGGCATCTATCTGGGTA	0.333																																					GBM(2;126 157 27790 28920 42492)												0													140.0	131.0	134.0					4																	79475635		2203	4300	6503	SO:0001583	missense	306			M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.8C>G	4.37:g.79475635C>G	ENSP00000264908:p.Ser3Cys		B2R9W6|Q6LET2	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.S3C	ENST00000264908.6	37	c.8	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078308	0.36662	.	.	ENSG00000138772	ENST00000264908;ENST00000512542;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T	0.23348	4.44;1.91;3.46;3.46;3.46	4.52	4.52	0.55395	.	0.727365	0.12221	N	0.488362	T	0.22551	0.0544	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.04593	-1.0940	10	0.72032	D	0.01	.	12.9133	0.58192	0.0:1.0:0.0:0.0	.	3	P12429	ANXA3_HUMAN	C	3	ENSP00000264908:S3C;ENSP00000426591:S3C;ENSP00000424584:S3C;ENSP00000421512:S3C;ENSP00000422281:S3C	ENSP00000264908:S3C	S	+	2	0	ANXA3	79694659	0.715000	0.27946	0.255000	0.24374	0.979000	0.70002	3.233000	0.51311	2.516000	0.84829	0.591000	0.81541	TCT	ANXA3	-	NULL		0.333	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	HGNC	protein_coding	OTTHUMT00000252516.3	C	NM_005139		79475635	+1	no_errors	ENST00000264908	ensembl	human	known	70_37	missense	SNP	0.315	G
AOAH	313	genome.wustl.edu	37	7	36616224	36616224	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:36616224C>G	ENST00000258749.5	-	13	1376	c.977G>C	c.(976-978)aGa>aCa	p.R326T	AOAH_ENST00000535891.1_Missense_Mutation_p.R294T|AOAH_ENST00000538464.1_Missense_Mutation_p.R48T|AOAH_ENST00000431169.1_Missense_Mutation_p.R326T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	326					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.R326T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACAGTGGTTTCTTTTCCATAA	0.294																																																	1	Substitution - Missense(1)	cervix(1)											154.0	147.0	150.0					7																	36616224		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.977G>C	7.37:g.36616224C>G	ENSP00000258749:p.Arg326Thr		A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.R326T	ENST00000258749.5	37	c.977	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674088	0.67928	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.9	4.9	0.64082	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.146441	0.47852	D	0.000204	T	0.50240	0.1604	.	.	.	0.41235	D	0.9866	D;D;D	0.89917	0.991;1.0;0.999	D;D;D	0.79784	0.991;0.993;0.966	T	0.52990	-0.8501	9	0.87932	D	0	.	13.793	0.63152	0.0:1.0:0.0:0.0	.	294;326;326	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	48;294;326;326;326	ENSP00000439283:R48T;ENSP00000441101:R294T;ENSP00000258749:R326T;ENSP00000405683:R326T	ENSP00000258749:R326T	R	-	2	0	AOAH	36582749	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.506000	0.53364	2.708000	0.92522	0.650000	0.86243	AGA	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.294	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36616224	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G
AOX2P	344454	genome.wustl.edu	37	2	201635338	201635338	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:201635338G>C	ENST00000467645.1	+	0	439					NR_001557.4				aldehyde oxidase 2 pseudogene																		TCTGTGAAACGAGCACAGCAA	0.463																																																	0																																												344454			AI187776		2q33.2	2013-09-26	2008-05-22	2008-05-22	ENSG00000243478	ENSG00000243478			18450	pseudogene	pseudogene			"""aldehyde oxidase 2"""	AOX2		11562361	Standard	NR_001557		Approved	AOH2	uc031rqn.1		OTTHUMG00000154538		2.37:g.201635338G>C				RNA	SNP	-	NULL	ENST00000467645.1	37	NULL		2																																																																																			AOX2P	-	-		0.463	AOX2P-001	KNOWN	basic	processed_transcript	AOX2P	HGNC	pseudogene	OTTHUMT00000335853.4	G	NR_001557		201635338	+1	no_errors	ENST00000467645	ensembl	human	known	70_37	rna	SNP	0.141	C
AP3M1	26985	genome.wustl.edu	37	10	75888905	75888905	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:75888905C>G	ENST00000355264.4	-	6	1075	c.764G>C	c.(763-765)gGa>gCa	p.G255A	AP3M1_ENST00000372745.1_Missense_Mutation_p.G255A	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	255	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TCGGAAATTTCCATCTGGAGG	0.448																																																	0													102.0	94.0	97.0					10																	75888905		2203	4300	6503	SO:0001583	missense	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.764G>C	10.37:g.75888905C>G	ENSP00000347408:p.Gly255Ala		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.G255A	ENST00000355264.4	37	c.764	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.144831	0.94603	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.32272	1.46;1.46	5.33	5.33	0.75918	Clathrin adaptor, mu subunit, conserved site (1);Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82226	-0.0562	10	0.87932	D	0	.	19.0414	0.93000	0.0:1.0:0.0:0.0	.	201;255	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	A	255	ENSP00000347408:G255A;ENSP00000361831:G255A	ENSP00000347408:G255A	G	-	2	0	AP3M1	75558911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.492000	0.84095	0.467000	0.42956	GGA	AP3M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C		0.448	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	C			75888905	-1	no_errors	ENST00000355264	ensembl	human	known	70_37	missense	SNP	1.000	G
AP3S2	10239	genome.wustl.edu	37	15	90437158	90437158	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:90437158G>C	ENST00000336418.4	-	1	416	c.24C>G	c.(22-24)ttC>ttG	p.F8L	AP3S2_ENST00000560940.1_Missense_Mutation_p.F8L|C15orf38-AP3S2_ENST00000560224.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.F8L	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	8					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATGGTTGTTGAAAACCAGAA	0.587																																																	0													57.0	49.0	52.0					15																	90437158		2009	3848	5857	SO:0001583	missense	10239			X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.24C>G	15.37:g.90437158G>C	ENSP00000338777:p.Phe8Leu		B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.F8L	ENST00000336418.4	37	c.24	CCDS10357.1	15	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613003	0.66672	.	.	ENSG00000157823	ENST00000336418;ENST00000423566	T	0.46451	0.87	5.16	4.24	0.50183	Longin-like (1);AP complex, mu/sigma subunit (1);	0.690754	0.13712	N	0.368047	T	0.46795	0.1411	M	0.66939	2.045	0.26328	N	0.977564	P	0.44429	0.835	P	0.49477	0.612	T	0.32745	-0.9895	10	0.26408	T	0.33	-10.2499	7.0846	0.25249	0.1765:0.0:0.8235:0.0	.	8	P59780	AP3S2_HUMAN	L	8	ENSP00000338777:F8L	ENSP00000338777:F8L	F	-	3	2	AP3S2	88238162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.261000	0.43276	2.834000	0.97654	0.655000	0.94253	TTC	AP3S2	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.587	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S2	HGNC	protein_coding	OTTHUMT00000313422.1	G			90437158	-1	no_errors	ENST00000336418	ensembl	human	known	70_37	missense	SNP	1.000	C
APBB1IP	54518	genome.wustl.edu	37	10	26785257	26785257	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:26785257C>T	ENST00000376236.4	+	4	552	c.97C>T	c.(97-99)Cct>Tct	p.P33S	APBB1IP_ENST00000356785.4_Missense_Mutation_p.P33S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	33					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CACTCTCCCTCCTCCTGACCC	0.368																																																	0													101.0	101.0	101.0					10																	26785257		2203	4300	6503	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.97C>T	10.37:g.26785257C>T	ENSP00000365411:p.Pro33Ser		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.P33S	ENST00000376236.4	37	c.97	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807266	0.50421	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.35236	1.32	5.87	4.97	0.65823	.	0.271361	0.43260	D	0.000599	T	0.35998	0.0951	L	0.53249	1.67	0.45914	D	0.99875	P;P;P	0.48503	0.911;0.635;0.707	B;B;B	0.43386	0.418;0.195;0.278	T	0.26018	-1.0115	10	0.66056	D	0.02	.	10.2452	0.43336	0.134:0.7967:0.0:0.0694	.	33;33;33	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	S	33	ENSP00000365411:P33S	ENSP00000349237:P33S	P	+	1	0	APBB1IP	26825263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.292000	0.51772	1.626000	0.50381	0.655000	0.94253	CCT	APBB1IP	-	NULL		0.368	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	C	NM_019043		26785257	+1	no_errors	ENST00000376236	ensembl	human	known	70_37	missense	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21249674	21249674	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:21249674C>T	ENST00000233242.1	-	15	2357	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	APOB_ENST00000399256.4_Missense_Mutation_p.D744N	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	744					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATGTTTATCATCTTTGGTA	0.393																																																	0													132.0	130.0	131.0					2																	21249674		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2230G>A	2.37:g.21249674C>T	ENSP00000233242:p.Asp744Asn		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D744N	ENST00000233242.1	37	c.2230	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548578	0.45383	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.16597	2.33;2.33	5.59	4.72	0.59763	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.532223	0.18137	N	0.150537	T	0.17789	0.0427	L	0.54323	1.7	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.12553	-1.0543	10	0.31617	T	0.26	.	10.7139	0.46000	0.0:0.8549:0.0:0.1451	.	744	P04114	APOB_HUMAN	N	744	ENSP00000233242:D744N;ENSP00000382200:D744N	ENSP00000233242:D744N	D	-	1	0	APOB	21103179	0.582000	0.26749	0.024000	0.17045	0.356000	0.29392	2.433000	0.44793	1.517000	0.48917	0.650000	0.86243	GAT	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21249674	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.008	T
APOF	319	genome.wustl.edu	37	12	56755476	56755476	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56755476C>G	ENST00000398189.3	-	2	591	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.E154Q	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	172					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TTCTCATTCTCACAGTCCTCT	0.557																																																	0													36.0	36.0	36.0					12																	56755476		2037	4184	6221	SO:0001583	missense	319			L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.514G>C	12.37:g.56755476C>G	ENSP00000381250:p.Glu172Gln		Q8TC13	Missense_Mutation	SNP	NULL	p.E172Q	ENST00000398189.3	37	c.514	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021981	0.54576	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.45668	0.89;0.89	5.4	4.5	0.54988	.	0.641486	0.12931	N	0.427373	T	0.43964	0.1271	L	0.41236	1.265	0.21762	N	0.999553	D	0.53151	0.958	P	0.51229	0.663	T	0.19386	-1.0307	10	0.30854	T	0.27	-0.0089	11.5574	0.50757	0.0:0.9156:0.0:0.0844	.	172	Q13790	APOF_HUMAN	Q	172;154	ENSP00000381250:E172Q;ENSP00000440997:E154Q	ENSP00000381250:E172Q	E	-	1	0	APOF	55041743	0.766000	0.28496	0.228000	0.23943	0.078000	0.17371	1.485000	0.35519	1.424000	0.47217	0.655000	0.94253	GAG	APOF	-	NULL		0.557	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	C			56755476	-1	no_errors	ENST00000398189	ensembl	human	known	70_37	missense	SNP	0.875	G
APPBP2	10513	genome.wustl.edu	37	17	58539130	58539130	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:58539130C>G	ENST00000083182.3	-	8	1224				APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2						intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GTCAGCAAGTCAATACAGGTT	0.343																																																	0													42.0	47.0	45.0					17																	58539130		2201	4293	6494	SO:0001627	intron_variant	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.936+40G>C	17.37:g.58539130C>G			A8K862|O95095|Q8WVC9	RNA	SNP	-	NULL	ENST00000083182.3	37	NULL	CCDS32699.1	17																																																																																			APPBP2	-	-		0.343	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	C	NM_006380		58539130	-1	no_errors	ENST00000592995	ensembl	human	known	70_37	rna	SNP	0.960	G
APPBP2	10513	genome.wustl.edu	37	17	58603319	58603319	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:58603319C>T	ENST00000083182.3	-	0	261				RP11-15E18.1_ENST00000558027.1_RNA|RP11-15E18.1_ENST00000559739.1_RNA	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2						intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			tccgcctcctccgcctcctcc	0.672																																																	0													52.0	40.0	44.0					17																	58603319		2201	4296	6497	SO:0001623	5_prime_UTR_variant	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.-27G>A	17.37:g.58603319C>T			A8K862|O95095|Q8WVC9	RNA	SNP	-	NULL	ENST00000083182.3	37	NULL	CCDS32699.1	17																																																																																			APPBP2	-	-		0.672	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	C	NM_006380		58603319	-1	no_errors	ENST00000590244	ensembl	human	known	70_37	rna	SNP	1.000	T
AQP7	364	genome.wustl.edu	37	9	33385029	33385029	+	3'UTR	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:33385029C>A	ENST00000537089.1	-	0	1403				AQP7_ENST00000377425.4_3'UTR			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.E335K(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCCATGGATTCATGTAAGGGT	0.542																																																	1	Substitution - Missense(1)	lung(1)											145.0	155.0	151.0					9																	33385029		2203	4297	6500	SO:0001624	3_prime_UTR_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.*587G>T	9.37:g.33385029C>A			Q08E94|Q5T5L9|Q8NHM3	Nonsense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP	p.E335*	ENST00000537089.1	37	c.1003		9	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584685	0.46110	.	.	ENSG00000165269	ENST00000379507;ENST00000297988	.	.	.	3.2	2.28	0.28536	.	4.761610	0.00520	N	0.000186	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.6448	5.6033	0.17365	0.0:0.8487:0.0:0.1513	.	.	.	.	X	334;335	.	ENSP00000297988:E335X	E	-	1	0	AQP7	33375029	0.002000	0.14202	0.015000	0.15790	0.022000	0.10575	0.889000	0.28282	1.822000	0.53115	0.298000	0.19748	GAA	AQP7	-	NULL		0.542	AQP7-202	KNOWN	basic	protein_coding	AQP7	HGNC	protein_coding		C	NM_001170		33385029	-1	no_errors	ENST00000297988	ensembl	human	known	70_37	nonsense	SNP	0.003	A
ARHGAP23	57636	genome.wustl.edu	37	17	36619412	36619412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36619412C>T	ENST00000431231.2	+	5	471	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	ARHGAP23_ENST00000443378.1_Nonsense_Mutation_p.Q41*|ARHGAP23_ENST00000437668.3_Nonsense_Mutation_p.Q135*	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	135	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GACCTACTCTCAGGTCATAGC	0.567																																																	0													90.0	92.0	91.0					17																	36619412		692	1591	2283	SO:0001587	stop_gained	57636			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.403C>T	17.37:g.36619412C>T	ENSP00000393539:p.Gln135*			Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.Q135*	ENST00000431231.2	37	c.403	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.372787	0.97515	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000549246;ENST00000443378	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.8361	0.88697	0.0:1.0:0.0:0.0	.	.	.	.	X	135;135;41;41	.	ENSP00000393539:Q135X	Q	+	1	0	ARHGAP23	33872938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.577000	0.86979	0.561000	0.74099	CAG	ARHGAP23	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.567	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	C	XM_290799		36619412	+1	no_errors	ENST00000431231	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARHGAP42	143872	genome.wustl.edu	37	11	100792321	100792321	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:100792321G>A	ENST00000298815.8	+	6	586	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ARHGAP42_ENST00000524892.2_Missense_Mutation_p.E161K	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	195	BAR.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						AAAGAAGTTTGAATTTGTTGA	0.294																																																	0													42.0	34.0	37.0					11																	100792321		692	1588	2280	SO:0001583	missense	143872					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.583G>A	11.37:g.100792321G>A	ENSP00000298815:p.Glu195Lys		Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E195K	ENST00000298815.8	37	c.583		11	.	.	.	.	.	.	.	.	.	.	G	32	5.169076	0.94768	.	.	ENSG00000165895	ENST00000524892;ENST00000298815;ENST00000531183	T;T;T	0.06371	3.31;3.31;3.31	5.53	5.53	0.82687	IRSp53/MIM homology domain (IMD) (1);	0.251140	0.27730	N	0.018092	T	0.29288	0.0729	M	0.82823	2.61	0.80722	D	1	D	0.62365	0.991	D	0.65684	0.937	T	0.02307	-1.1179	10	0.87932	D	0	.	19.4552	0.94884	0.0:0.0:1.0:0.0	.	195	A6NI28	RHG42_HUMAN	K	161;195;51	ENSP00000431776:E161K;ENSP00000298815:E195K;ENSP00000434304:E51K	ENSP00000298815:E195K	E	+	1	0	ARHGAP42	100297531	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.454000	0.80714	2.591000	0.87537	0.563000	0.77884	GAA	ARHGAP42	-	NULL		0.294	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		G	NM_152432		100792321	+1	no_errors	ENST00000298815	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF1	9138	genome.wustl.edu	37	19	42411341	42411341	+	3'UTR	SNP	G	G	A	rs542363730		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:42411341G>A	ENST00000354532.3	+	0	2989				CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000599846.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E875K|ARHGEF1_ENST00000347545.4_3'UTR|ARHGEF1_ENST00000337665.4_3'UTR	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTCACACCCCGAGGGCCTGAG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		14332	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.*102G>A	19.37:g.42411341G>A			O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E875K	ENST00000354532.3	37	c.2623	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477701	0.63849	.	.	ENSG00000076928	ENST00000378152	T	0.68331	-0.32	2.0	-4.01	0.04045	.	0.683558	0.12444	N	0.468414	T	0.46870	0.1415	.	.	.	0.44439	D	0.99736	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	9	0.87932	D	0	-2.264	0.5909	0.00728	0.3586:0.176:0.29:0.1753	.	875	Q6NX52	.	K	875	ENSP00000367394:E875K	ENSP00000367394:E875K	E	+	1	0	ARHGEF1	47103181	0.794000	0.28838	0.253000	0.24343	0.949000	0.60115	0.572000	0.23684	-1.487000	0.01849	0.485000	0.47835	GAG	ARHGEF1	-	NULL		0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	G	NM_199002		42411341	+1	no_errors	ENST00000378152	ensembl	human	putative	70_37	missense	SNP	0.622	A
ARHGEF19	128272	genome.wustl.edu	37	1	16535523	16535523	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:16535523G>C	ENST00000270747.3	-	2	163	c.27C>G	c.(25-27)ctC>ctG	p.L9L	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	9					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGGGCTGGAGGGTAGCAG	0.622																																																	0													15.0	16.0	16.0					1																	16535523		2203	4299	6502	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.27C>G	1.37:g.16535523G>C			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L9	ENST00000270747.3	37	c.27	CCDS170.1	1																																																																																			ARHGEF19	-	NULL		0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16535523	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	1.000	C
ARHGEF11	9826	genome.wustl.edu	37	1	156921453	156921453	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156921453C>G	ENST00000361409.2	-	21	2459	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	ARHGEF11_ENST00000315174.8_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.E613Q	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	573					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTTGTTCTCAAAGTGCTGA	0.502																																																	0													187.0	161.0	170.0					1																	156921453		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1717G>C	1.37:g.156921453C>G	ENSP00000354644:p.Glu573Gln		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.E613Q	ENST00000361409.2	37	c.1837	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904556	0.92035	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.71341	-0.54;-0.56	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000039	T	0.67748	0.2926	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.62849	-0.6767	10	0.18710	T	0.47	-26.7221	18.6414	0.91397	0.0:1.0:0.0:0.0	.	573;613	O15085;O15085-2	ARHGB_HUMAN;.	Q	613;573	ENSP00000357177:E613Q;ENSP00000354644:E573Q	ENSP00000354644:E573Q	E	-	1	0	ARHGEF11	155188077	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.126000	0.71635	2.724000	0.93272	0.563000	0.77884	GAG	ARHGEF11	-	NULL		0.502	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156921453	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGEF37	389337	genome.wustl.edu	37	5	148977374	148977374	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:148977374G>A	ENST00000333677.6	+	2	205	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	14						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCAGGTCAGGGAGTCCGGACA	0.572																																																	0													52.0	53.0	53.0					5																	148977374		2019	4162	6181	SO:0001819	synonymous_variant	389337			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.42G>A	5.37:g.148977374G>A			Q6ZW51	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.G14	ENST00000333677.6	37	c.42	CCDS43385.1	5																																																																																			ARHGEF37	-	superfamily_DH-domain		0.572	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	G	NM_001001669		148977374	+1	no_errors	ENST00000333677	ensembl	human	known	70_37	silent	SNP	0.008	A
ARHGEF39	84904	genome.wustl.edu	37	9	35662192	35662192	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:35662192G>A	ENST00000378387.3	-	8	1093	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	ARHGEF39_ENST00000378395.2_Silent_p.L290L|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GCCCAAGTCAGACTGTGGTAC	0.527																																																	0													129.0	111.0	117.0					9																	35662192		2203	4300	6503	SO:0001819	synonymous_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.976C>T	9.37:g.35662192G>A			Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L326	ENST00000378387.3	37	c.976	CCDS6584.2	9																																																																																			ARHGEF39	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.527	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1	G	NM_032818		35662192	-1	no_errors	ENST00000378387	ensembl	human	known	70_37	silent	SNP	1.000	A
ARID1A	8289	genome.wustl.edu	37	1	27094341	27094341	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:27094341G>A	ENST00000324856.7	+	11	3420	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ARID1A_ENST00000374152.2_Missense_Mutation_p.E634K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1017K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1017	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.			E -> G (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269). {ECO:0000305}.	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)		GCTGGGTGGTGAGCCTGAGAG	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													170.0	139.0	150.0					1																	27094341		2203	4300	6503	SO:0001583	missense	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.3049G>A	1.37:g.27094341G>A	ENSP00000320485:p.Glu1017Lys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_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.E1017K	ENST00000324856.7	37	c.3049	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.513893	0.96402	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.63744	-0.06;-0.06;-0.06	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.996;0.998	T	0.76699	-0.2863	10	0.54805	T	0.06	-14.9227	18.8566	0.92255	0.0:0.0:1.0:0.0	.	1017;1017;671	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	K	1017;1017;634	ENSP00000320485:E1017K;ENSP00000387636:E1017K;ENSP00000363267:E634K	ENSP00000320485:E1017K	E	+	1	0	ARID1A	26966928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GAG	ARID1A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	G	NM_139135		27094341	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	missense	SNP	1.000	A
ARID4A	5926	genome.wustl.edu	37	14	58838696	58838696	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:58838696G>C	ENST00000355431.3	+	24	4136	c.3763G>C	c.(3763-3765)Gaa>Caa	p.E1255Q	RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000348476.3_Missense_Mutation_p.E1186Q|ARID4A_ENST00000395168.3_Missense_Mutation_p.E1201Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E1186Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1255					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1255Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACTTGCTGTAGAATGCAGGTG	0.468																																																	1	Substitution - Missense(1)	breast(1)											152.0	119.0	130.0					14																	58838696		2203	4300	6503	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3763G>C	14.37:g.58838696G>C	ENSP00000347602:p.Glu1255Gln		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E1255Q	ENST00000355431.3	37	c.3763	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586226	0.66105	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.25250	1.81;2.03;2.02;2.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.29908	0.895	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.986;0.997	T	0.33650	-0.9860	10	0.87932	D	0	-27.2927	19.087	0.93206	0.0:0.0:1.0:0.0	.	1186;1255;1201	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Q	1255;1186;1201;1186	ENSP00000347602:E1255Q;ENSP00000344556:E1186Q;ENSP00000378597:E1201Q;ENSP00000397368:E1186Q	ENSP00000344556:E1186Q	E	+	1	0	ARID4A	57908449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.716000	0.91420	2.737000	0.93849	0.563000	0.77884	GAA	ARID4A	-	NULL		0.468	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58838696	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID4B	51742	genome.wustl.edu	37	1	235423998	235423998	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:235423998C>T	ENST00000264183.3	-	3	573	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	ARID4B_ENST00000366603.2_Missense_Mutation_p.E26K|ARID4B_ENST00000349213.3_Missense_Mutation_p.E26K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	26					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCTTGGCTTCACAAAAGGCT	0.343																																																	0													114.0	108.0	110.0					1																	235423998		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.76G>A	1.37:g.235423998C>T	ENSP00000264183:p.Glu26Lys		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E26K	ENST00000264183.3	37	c.76	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.942552	0.97128	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.71103	-0.29;-0.54;-0.54;0.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.997	D;D;D;D	0.85130	0.981;0.997;0.994;0.985	D	0.87350	0.2337	10	0.87932	D	0	-25.3314	19.6273	0.95682	0.0:1.0:0.0:0.0	.	26;26;26;26	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	26	ENSP00000264184:E26K;ENSP00000355562:E26K;ENSP00000264183:E26K;ENSP00000391497:E26K	ENSP00000264183:E26K	E	-	1	0	ARID4B	233490621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.732000	0.93576	0.555000	0.69702	GAA	ARID4B	-	NULL		0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235423998	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	T
ARID5B	84159	genome.wustl.edu	37	10	63810655	63810655	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:63810655C>T	ENST00000279873.7	+	5	1152	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	ARID5B_ENST00000309334.5_Missense_Mutation_p.L5F	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	248					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGCGCCAAATCTTAAAGGCAG	0.398																																																	0													124.0	116.0	119.0					10																	63810655		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.742C>T	10.37:g.63810655C>T	ENSP00000279873:p.Leu248Phe		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L248F	ENST00000279873.7	37	c.742	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875245	0.91664	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.26660	1.72;1.72	6.03	6.03	0.97812	.	0.149937	0.53938	D	0.000059	T	0.50154	0.1599	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.30504	-0.9976	10	0.52906	T	0.07	-12.3437	20.5568	0.99304	0.0:1.0:0.0:0.0	.	248;5;248	Q14865-3;Q14865-2;Q14865	.;.;ARI5B_HUMAN	F	248;5	ENSP00000279873:L248F;ENSP00000308862:L5F	ENSP00000279873:L248F	L	+	1	0	ARID5B	63480661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.334000	0.72944	2.861000	0.98227	0.655000	0.94253	CTT	ARID5B	-	NULL		0.398	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	C	XM_084482		63810655	+1	no_errors	ENST00000279873	ensembl	human	known	70_37	missense	SNP	1.000	T
ARL1	400	genome.wustl.edu	37	12	101801473	101801473	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:101801473C>T	ENST00000261636.8	-	0	125				RP11-321F8.4_ENST00000547360.1_lincRNA|ARL1_ENST00000549302.1_5'UTR|ARL1_ENST00000536227.1_5'Flank|ARL1_ENST00000551828.1_5'Flank|ARL1_ENST00000551671.1_5'UTR|ARL1_ENST00000539055.1_5'UTR|ARL1_ENST00000551688.1_5'UTR	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1						activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CCTTGGCCTTCGGCTGCAGCT	0.677																																																	0													63.0	73.0	69.0					12																	101801473		1093	2176	3269	SO:0001623	5_prime_UTR_variant	400			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.-50G>A	12.37:g.101801473C>T			B4DWW1|P80417|Q53XB1	RNA	SNP	-	NULL	ENST00000261636.8	37	NULL	CCDS44958.1	12																																																																																			ARL1	-	-		0.677	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL1	HGNC	protein_coding	OTTHUMT00000408246.1	C	NM_001177		101801473	-1	no_errors	ENST00000549283	ensembl	human	known	70_37	rna	SNP	0.000	T
ARL13B	200894	genome.wustl.edu	37	3	93768272	93768272	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:93768272G>A	ENST00000394222.3	+	8	1322	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ARL13B_ENST00000303097.7_Silent_p.K242K|ARL13B_ENST00000535334.1_Silent_p.K246K|ARL13B_ENST00000539730.1_Silent_p.K70K|ARL13B_ENST00000471138.1_Silent_p.K349K|DHFRL1_ENST00000481631.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	349					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AGAAAACTAAGAAACTAAGAA	0.378																																																	0													59.0	58.0	58.0					3																	93768272		2203	4300	6503	SO:0001819	synonymous_variant	200894			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1047G>A	3.37:g.93768272G>A			D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.K349	ENST00000394222.3	37	c.1047	CCDS2925.1	3																																																																																			ARL13B	-	NULL		0.378	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	G	NM_182896		93768272	+1	no_errors	ENST00000394222	ensembl	human	known	70_37	silent	SNP	1.000	A
ARL16	339231	genome.wustl.edu	37	17	79648864	79648864	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79648864G>C	ENST00000397498.4	-	5	566	c.468C>G	c.(466-468)atC>atG	p.I156M	ARL16_ENST00000570561.1_Missense_Mutation_p.I70M|ARL16_ENST00000573392.1_Missense_Mutation_p.I52M|ARL16_ENST00000574938.1_Missense_Mutation_p.I52M|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000576135.1_Missense_Mutation_p.I70M	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	156					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGGAAGCCTGATTAATGACT	0.577																																																	0													39.0	41.0	40.0					17																	79648864		2053	4198	6251	SO:0001583	missense	339231				CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.468C>G	17.37:g.79648864G>C	ENSP00000380635:p.Ile156Met			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	p.I156M	ENST00000397498.4	37	c.468	CCDS45813.1	17	.	.	.	.	.	.	.	.	.	.	G	8.994	0.978524	0.18812	.	.	ENSG00000214087	ENST00000397498	T	0.63580	-0.05	5.1	-0.975	0.10289	.	0.215544	0.37955	N	0.001863	T	0.38639	0.1048	N	0.11131	0.1	0.20975	N	0.999812	B;B	0.23249	0.082;0.007	B;B	0.26864	0.074;0.023	T	0.31613	-0.9937	10	0.66056	D	0.02	.	8.9691	0.35894	0.1455:0.5236:0.3309:0.0	.	156;132	Q0P5N6;B4E3H0	ARL16_HUMAN;.	M	156	ENSP00000380635:I156M	ENSP00000380635:I156M	I	-	3	3	ARL16	77259269	1.000000	0.71417	0.115000	0.21578	0.750000	0.42670	0.858000	0.27845	-0.384000	0.07845	-0.176000	0.13171	ATC	ARL16	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1		0.577	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ARL16	HGNC	protein_coding	OTTHUMT00000440514.1	G	XM_290777		79648864	-1	no_errors	ENST00000397498	ensembl	human	known	70_37	missense	SNP	0.725	C
ARL6IP5	10550	genome.wustl.edu	37	3	69134213	69134213	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:69134213C>G	ENST00000273258.3	+	1	119	c.15C>G	c.(13-15)atC>atG	p.I5M	ARL6IP5_ENST00000478935.1_Missense_Mutation_p.I5M	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	5					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ACGTTAATATCGCCCCACTCC	0.587																																																	0													54.0	60.0	58.0					3																	69134213		2203	4300	6503	SO:0001583	missense	10550			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.15C>G	3.37:g.69134213C>G	ENSP00000273258:p.Ile5Met		B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.I5M	ENST00000273258.3	37	c.15	CCDS2912.1	3	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946809	0.53186	.	.	ENSG00000144746	ENST00000273258;ENST00000412089;ENST00000478935	T;T	0.45276	0.9;0.9	5.69	1.76	0.24704	.	0.568407	0.19607	N	0.110224	T	0.31451	0.0797	L	0.34521	1.04	0.29537	N	0.852398	B	0.28350	0.208	B	0.38500	0.275	T	0.31998	-0.9923	10	0.56958	D	0.05	-10.5842	2.0818	0.03636	0.2221:0.3415:0.2925:0.1439	.	5	O75915	PRAF3_HUMAN	M	5	ENSP00000273258:I5M;ENSP00000420138:I5M	ENSP00000273258:I5M	I	+	3	3	ARL6IP5	69216903	0.525000	0.26290	0.284000	0.24805	0.624000	0.37722	-0.306000	0.08178	0.392000	0.25172	0.650000	0.86243	ATC	ARL6IP5	-	pfam_Prenylated_rab_accept_PRA1		0.587	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP5	HGNC	protein_coding	OTTHUMT00000352132.1	C	NM_006407		69134213	+1	no_errors	ENST00000273258	ensembl	human	known	70_37	missense	SNP	0.835	G
ARMCX4	100131755	genome.wustl.edu	37	X	100748119	100748119	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100748119G>A	ENST00000423738.3	+	2	4745	c.4543G>A	c.(4543-4545)Ggg>Agg	p.G1515R		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						TGTTTGCCCTGGGAGTCAGAC	0.607																																																	0																																										SO:0001583	missense	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4543G>A	X.37:g.100748119G>A	ENSP00000404304:p.Gly1515Arg		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.G1515R	ENST00000423738.3	37	c.4543	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	2.373	-0.343859	0.05208	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.67	2.78	0.32641	.	.	.	.	.	T	0.33962	0.0881	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16988	-1.0384	4	.	.	.	.	7.6648	0.28423	0.1346:0.0:0.8653:0.0	.	.	.	.	R	1619	.	.	G	+	1	0	ARMCX4	100634775	0.480000	0.25933	0.032000	0.17829	0.265000	0.26407	1.239000	0.32719	1.796000	0.52611	0.504000	0.49776	GGG	ARMCX4	-	NULL		0.607	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100748119	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	missense	SNP	0.007	A
ARMCX3	51566	genome.wustl.edu	37	X	100877981	100877981	+	5'UTR	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100877981G>T	ENST00000341189.4	+	0	195				ARMCX3_ENST00000537169.1_5'Flank|ARMCX3_ENST00000471229.2_5'Flank|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						CAACTACAAGGTGATGAGATT	0.532																																																	0																																										SO:0001623	5_prime_UTR_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.-672G>T	X.37:g.100877981G>T			Q53HC6|Q7LCF5|Q9NPE4	RNA	SNP	-	NULL	ENST00000341189.4	37	NULL	CCDS14489.1	X																																																																																			ARMCX3-AS1	-	-		0.532	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3-AS1	HGNC	protein_coding	OTTHUMT00000057568.2	G	NM_016607		100877981	-1	no_errors	ENST00000454228	ensembl	human	known	70_37	rna	SNP	0.016	T
ARMCX2	9823	genome.wustl.edu	37	X	100911348	100911348	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100911348G>C	ENST00000328766.5	-	5	1680	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	ARMCX2_ENST00000356824.4_Silent_p.L409L|ARMCX2_ENST00000330154.2_Silent_p.L409L|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	409						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGCTCAGAGTGAGCAAAGCTA	0.433																																																	0													113.0	102.0	105.0					X																	100911348		2203	4300	6503	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1227C>G	X.37:g.100911348G>C			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.L409	ENST00000328766.5	37	c.1227	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.433	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	G	NM_014782		100911348	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	1.000	C
ARMCX5	64860	genome.wustl.edu	37	X	101857527	101857527	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:101857527G>A	ENST00000604957.1	+	1	3080	c.458G>A	c.(457-459)aGg>aAg	p.R153K	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.R153K|ARMCX5_ENST00000537008.1_Missense_Mutation_p.R153K|ARMCX5_ENST00000372742.1_Missense_Mutation_p.R153K|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.R153K|ARMCX5_ENST00000536530.1_Missense_Mutation_p.R153K	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	153										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGACAGAAGGGAAGAGACC	0.468																																																	0													181.0	164.0	170.0					X																	101857527		2203	4300	6503	SO:0001583	missense	64860				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.458G>A	X.37:g.101857527G>A	ENSP00000474720:p.Arg153Lys		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R153K	ENST00000604957.1	37	c.458	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219354	0.01542	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	3.36	-4.76	0.03229	.	.	.	.	.	T	0.06826	0.0174	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	9	0.02654	T	1	7.9996	12.4825	0.55852	0.8178:0.0:0.1822:0.0	.	153	Q6P1M9	ARMX5_HUMAN	K	153	ENSP00000246174:R153K;ENSP00000439001:R153K;ENSP00000446385:R153K;ENSP00000445851:R153K;ENSP00000361827:R153K	ENSP00000246174:R153K	R	+	2	0	ARMCX5	101744183	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.157000	0.10085	-1.339000	0.02230	-0.344000	0.07964	AGG	ARMCX5	-	NULL		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	G	NM_022838		101857527	+1	no_errors	ENST00000246174	ensembl	human	known	70_37	missense	SNP	0.000	A
ARPC1A	10552	genome.wustl.edu	37	7	98951620	98951620	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:98951620G>C	ENST00000262942.5	+	6	713	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Missense_Mutation_p.E150Q	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	197					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGATGTCAGAGTTTGGTGG	0.577																																																	0													78.0	81.0	80.0					7																	98951620		2203	4300	6503	SO:0001583	missense	10552			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.589G>C	7.37:g.98951620G>C	ENSP00000262942:p.Glu197Gln		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E197Q	ENST00000262942.5	37	c.589	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	g	18.39	3.612631	0.66672	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.65916	-0.18;-0.18	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.65677	2.01	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.32864	0.154;0.108	T	0.64558	-0.6379	10	0.40728	T	0.16	.	18.7488	0.91806	0.0:0.0:1.0:0.0	.	192;197	Q53GB6;Q92747	.;ARC1A_HUMAN	Q	150;197	ENSP00000408578:E150Q;ENSP00000262942:E197Q	ENSP00000262942:E197Q	E	+	1	0	ARPC1A	98789556	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.818000	0.99354	2.516000	0.84829	0.555000	0.69702	GAG	ARPC1A	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.577	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1	G	NM_006409		98951620	+1	no_errors	ENST00000262942	ensembl	human	known	70_37	missense	SNP	1.000	C
ASB2	51676	genome.wustl.edu	37	14	94417385	94417385	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94417385C>G	ENST00000315988.4	-	4	1184	c.696G>C	c.(694-696)caG>caC	p.Q232H	MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000555019.1_Missense_Mutation_p.Q280H|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	232					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.Q232H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACTGTCCACTCTGGGCGGCCA	0.587																																																	1	Substitution - Missense(1)	ovary(1)											161.0	150.0	153.0					14																	94417385		2203	4300	6503	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.696G>C	14.37:g.94417385C>G	ENSP00000320675:p.Gln232His		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.Q232H	ENST00000315988.4	37	c.696	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632631	0.67015	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000556062	T;T;T;T	0.65732	-0.16;-0.16;-0.14;-0.17	5.62	3.79	0.43588	Ankyrin repeat-containing domain (3);	0.056743	0.64402	D	0.000001	T	0.71056	0.3295	L	0.48362	1.52	0.44155	D	0.996951	D;D;D	0.71674	0.998;0.966;0.998	D;P;D	0.71870	0.975;0.837;0.975	T	0.70454	-0.4867	10	0.51188	T	0.08	-22.1794	12.7097	0.57082	0.0:0.8645:0.0:0.1355	.	248;280;232	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	H	280;248;232;178;178;126	ENSP00000451575:Q280H;ENSP00000320675:Q232H;ENSP00000450940:Q178H;ENSP00000451694:Q126H	ENSP00000320675:Q232H	Q	-	3	2	ASB2	93487138	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.578000	0.36525	0.714000	0.32081	0.561000	0.74099	CAG	ASB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94417385	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	G
ASNSD1	54529	genome.wustl.edu	37	2	190531167	190531167	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:190531167G>A	ENST00000260952.4	+	4	722	c.309G>A	c.(307-309)aaG>aaA	p.K103K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	103	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CCTCCTGTAAGAATGAATCTG	0.333																																																	0													117.0	123.0	121.0					2																	190531167		2203	4300	6503	SO:0001819	synonymous_variant	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.309G>A	2.37:g.190531167G>A			D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	pfam_Asn_synthase	p.K103	ENST00000260952.4	37	c.309	CCDS2300.1	2																																																																																			ASNSD1	-	NULL		0.333	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	G	NM_019048		190531167	+1	no_errors	ENST00000260952	ensembl	human	known	70_37	silent	SNP	0.003	A
ASTN1	460	genome.wustl.edu	37	1	176999980	176999980	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:176999980G>C	ENST00000367654.3	-	4	1185	c.974C>G	c.(973-975)tCc>tGc	p.S325C	ASTN1_ENST00000424564.2_Missense_Mutation_p.S325C|ASTN1_ENST00000361833.2_Missense_Mutation_p.S325C|MIR488_ENST00000365739.2_RNA|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S325C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	325					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGCTGCTGGAGGTGTGAGA	0.488																																																	0													165.0	158.0	160.0					1																	176999980		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.974C>G	1.37:g.176999980G>C	ENSP00000356626:p.Ser325Cys		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S325C	ENST00000367654.3	37	c.974		1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540929	0.85917	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19669	2.13;2.54;2.54;2.13	5.7	5.7	0.88788	.	0.054577	0.85682	D	0.000000	T	0.31199	0.0789	L	0.27053	0.805	0.58432	D	0.99999	D;P;P	0.53151	0.958;0.828;0.828	P;P;P	0.55999	0.789;0.717;0.717	T	0.02208	-1.1195	10	0.66056	D	0.02	-30.8237	19.4356	0.94792	0.0:0.0:1.0:0.0	.	325;325;325	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	C	325	ENSP00000356629:S325C;ENSP00000354536:S325C;ENSP00000356626:S325C;ENSP00000395041:S325C	ENSP00000354536:S325C	S	-	2	0	ASTN1	175266603	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.456000	0.80751	2.671000	0.90904	0.655000	0.94253	TCC	ASTN1	-	NULL		0.488	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		G	NM_004319		176999980	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	C
ASPM	259266	genome.wustl.edu	37	1	197115342	197115342	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:197115342C>T	ENST00000367409.4	-	1	482	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ASPM_ENST00000294732.7_Missense_Mutation_p.E76K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	76					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCTTCACTTCTGCCACCTCC	0.612																																																	0													118.0	123.0	121.0					1																	197115342		2203	4300	6503	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.226G>A	1.37:g.197115342C>T	ENSP00000356379:p.Glu76Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.E76K	ENST00000367409.4	37	c.226	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343345	0.41498	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.60299	0.2;1.59	4.22	1.04	0.20106	.	1.073020	0.07194	N	0.856271	T	0.44117	0.1278	L	0.36672	1.1	0.09310	N	1	B;B	0.27068	0.139;0.167	B;B	0.22386	0.039;0.024	T	0.31998	-0.9923	10	0.45353	T	0.12	.	4.9684	0.14102	0.0:0.4418:0.3076:0.2507	.	76;76	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	76	ENSP00000356379:E76K;ENSP00000294732:E76K	ENSP00000294732:E76K	E	-	1	0	ASPM	195381965	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	1.207000	0.32333	0.019000	0.15079	0.655000	0.94253	GAA	ASPM	-	NULL		0.612	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197115342	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	missense	SNP	0.000	T
ATE1	11101	genome.wustl.edu	37	10	123549786	123549786	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:123549786C>T	ENST00000224652.6	-	11	1361	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	ATE1_ENST00000369040.3_Missense_Mutation_p.D330N|ATE1_ENST00000369043.3_Missense_Mutation_p.D426N|ATE1_ENST00000543447.1_Missense_Mutation_p.D311N|ATE1_ENST00000540606.1_Missense_Mutation_p.D419N|ATE1_ENST00000535655.1_Missense_Mutation_p.D127N	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	426					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGCAAATCAGAAGGTCTA	0.468																																																	0													89.0	82.0	85.0					10																	123549786		2203	4300	6503	SO:0001583	missense	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1276G>A	10.37:g.123549786C>T	ENSP00000224652:p.Asp426Asn		O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk	p.D426N	ENST00000224652.6	37	c.1276	CCDS31300.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.069096	0.93950	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.67	5.67	0.87782	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	0.995;0.993;1.0;0.995	P;D;D;D	0.79784	0.897;0.969;0.993;0.93	D	0.83757	0.0212	9	0.52906	T	0.07	-12.0408	19.7824	0.96422	0.0:1.0:0.0:0.0	.	419;330;426;426	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	N	426;127;426;330;419;311	.	ENSP00000224652:D426N	D	-	1	0	ATE1	123539776	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	7.456000	0.80751	2.677000	0.91161	0.561000	0.74099	GAT	ATE1	-	pfam_Arg-tRNA-P_Trfase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk		0.468	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		C	NM_001001976		123549786	-1	no_errors	ENST00000224652	ensembl	human	known	70_37	missense	SNP	1.000	T
ATG12	9140	genome.wustl.edu	37	5	115177250	115177250	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:115177250C>G	ENST00000509910.1	-	0	305				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.K47N|ATG12_ENST00000500945.2_5'UTR			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CCTCCGCCATCTTGCTTGGAG	0.607																																																	0													76.0	86.0	83.0					5																	115177250		2202	4300	6502	SO:0001623	5_prime_UTR_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-1G>C	5.37:g.115177250C>G			Q6PJV2	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like	p.K47N	ENST00000509910.1	37	c.141	CCDS4122.2	5	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508659	0.44660	.	.	ENSG00000145782	ENST00000274459	.	.	.	4.87	1.98	0.26296	.	0.962580	0.08481	N	0.939554	T	0.46833	0.1413	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19160	-1.0314	8	0.45353	T	0.12	-16.8696	8.1595	0.31190	0.1697:0.5016:0.3287:0.0	.	47	C1IDX9	.	N	47	.	ENSP00000274459:K47N	K	-	3	2	ATG12	115205149	1.000000	0.71417	0.819000	0.32651	0.257000	0.26127	0.681000	0.25320	0.090000	0.17273	-0.175000	0.13238	AAG	ATG12	-	NULL		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	HGNC	protein_coding	OTTHUMT00000250851.3	C	NM_004707		115177250	-1	no_errors	ENST00000274459	ensembl	human	known	70_37	missense	SNP	0.975	G
ATM	472	genome.wustl.edu	37	11	108199914	108199914	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:108199914G>C	ENST00000452508.2	+	50	7445	c.7256G>C	c.(7255-7257)aGa>aCa	p.R2419T	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2419T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2419	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTCCTGAAAAGAGCCAAAGAG	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													72.0	71.0	71.0					11																	108199914		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7256G>C	11.37:g.108199914G>C	ENSP00000388058:p.Arg2419Thr		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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.R2419T	ENST00000452508.2	37	c.7256	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343542	0.41498	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83250	-1.7;-1.7	5.54	3.44	0.39384	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.129398	0.64402	D	0.000002	T	0.66684	0.2814	N	0.19112	0.55	0.80722	D	1	B	0.23990	0.095	B	0.24394	0.053	T	0.60321	-0.7286	10	0.35671	T	0.21	.	4.1314	0.10151	0.4813:0.0:0.5187:0.0	.	2419	Q13315	ATM_HUMAN	T	2419	ENSP00000278616:R2419T;ENSP00000388058:R2419T	ENSP00000278616:R2419T	R	+	2	0	ATM	107705124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.617000	0.61204	1.341000	0.45600	0.650000	0.86243	AGA	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108199914	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP12A	479	genome.wustl.edu	37	13	25266734	25266734	+	Silent	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:25266734C>A	ENST00000381946.3	+	9	1403	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	ATP12A_ENST00000218548.6_Silent_p.I418I			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	412					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ACAATCAGATCTTTGTGGCTG	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)												0													90.0	80.0	83.0					13																	25266734		2203	4300	6503	SO:0001819	synonymous_variant	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1236C>A	13.37:g.25266734C>A			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	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_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.I418	ENST00000381946.3	37	c.1254	CCDS31948.1	13																																																																																			ATP12A	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	C	NM_001676		25266734	+1	no_errors	ENST00000218548	ensembl	human	known	70_37	silent	SNP	1.000	A
ATP13A4	84239	genome.wustl.edu	37	3	193210784	193210784	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:193210784G>C	ENST00000342695.4	-	5	777	c.455C>G	c.(454-456)tCt>tGt	p.S152C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S152C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.S152C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	152						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTCTTCCAAAGAACTAAAATA	0.313																																																	0													99.0	97.0	98.0					3																	193210784		2202	4300	6502	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.455C>G	3.37:g.193210784G>C	ENSP00000339182:p.Ser152Cys		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S152C	ENST00000342695.4	37	c.455	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	8.528	0.870281	0.17322	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;D	0.90385	1.43;1.43;-2.66	5.62	2.74	0.32292	ATPase, P-type cation-transporter, N-terminal (1);	0.493628	0.18851	N	0.129420	T	0.82231	0.4992	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.70490	-0.4857	10	0.38643	T	0.18	-6.2484	10.7407	0.46152	0.0783:0.4374:0.4843:0.0	.	152;152	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	C	152	ENSP00000376238:S152C;ENSP00000339182:S152C;ENSP00000295548:S152C	ENSP00000295548:S152C	S	-	2	0	ATP13A4	194693478	0.010000	0.17322	0.997000	0.53966	0.793000	0.44817	0.467000	0.22035	0.721000	0.32231	0.591000	0.81541	TCT	ATP13A4	-	smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp		0.313	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193210784	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	0.046	C
TMEM213	155006	genome.wustl.edu	37	7	138482973	138482973	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:138482973G>C	ENST00000442682.2	+	1	235				TMEM213_ENST00000422794.2_Intron|TMEM213_ENST00000413208.1_Intron|ATP6V0A4_ENST00000353492.4_5'Flank|ATP6V0A4_ENST00000310018.2_5'Flank|TMEM213_ENST00000458494.1_Intron|TMEM213_ENST00000397602.3_Intron	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						Tgggaagggggagggaaggag	0.592																																																	0													9.0	10.0	9.0					7																	138482973		1915	4109	6024	SO:0001627	intron_variant	50617				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.82+42G>C	7.37:g.138482973G>C			A4D1R3|C9JH49|C9JX41|C9K0P0	RNA	SNP	-	NULL	ENST00000442682.2	37	NULL	CCDS47722.1	7																																																																																			ATP6V0A4	-	-		0.592	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347800.2	G	NM_001085429		138482973	-1	no_errors	ENST00000479909	ensembl	human	known	70_37	rna	SNP	0.080	C
ATP8A2	51761	genome.wustl.edu	37	13	26501421	26501421	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:26501421G>C	ENST00000491840.1	+	0	2227				ATP8A2_ENST00000381655.2_Intron|ATP8A2_ENST00000255283.8_Intron			Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CACCTTTGTTGAACAAAAGTC	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000491840.1:c.*2224G>C	13.37:g.26501421G>C			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	RNA	SNP	-	NULL	ENST00000491840.1	37	NULL		13																																																																																			ATP8A2	-	-		0.458	ATP8A2-006	KNOWN	basic	processed_transcript	ATP8A2	HGNC	protein_coding	OTTHUMT00000354574.1	G	NM_016529		26501421	+1	no_errors	ENST00000491840	ensembl	human	known	70_37	rna	SNP	0.006	C
ATRX	546	genome.wustl.edu	37	X	76891545	76891545	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:76891545C>G	ENST00000373344.5	-	16	4774	c.4560G>C	c.(4558-4560)gtG>gtC	p.V1520V	ATRX_ENST00000395603.3_Silent_p.V1482V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1520					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATTTCTATCACCTACAAGA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											75.0	66.0	69.0					X																	76891545		2203	4296	6499	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4560G>C	X.37:g.76891545C>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1520	ENST00000373344.5	37	c.4560	CCDS14434.1	X																																																																																			ATRX	-	NULL		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76891545	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	silent	SNP	0.562	G
AWAT2	158835	genome.wustl.edu	37	X	69264293	69264293	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:69264293G>A	ENST00000276101.3	-	2	110	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	35					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGTAGAGGTTGACAGCAATCA	0.522																																					NSCLC(80;1334 1436 9350 24214 26427)												0													123.0	91.0	102.0					X																	69264293		2203	4300	6503	SO:0001819	synonymous_variant	158835			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.105C>T	X.37:g.69264293G>A			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.V35	ENST00000276101.3	37	c.105	CCDS35320.1	X																																																																																			AWAT2	-	NULL		0.522	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	G	NM_001002254		69264293	-1	no_errors	ENST00000276101	ensembl	human	known	70_37	silent	SNP	0.036	A
ATRX	546	genome.wustl.edu	37	X	76938673	76938673	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:76938673G>A	ENST00000373344.5	-	9	2289	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	ATRX_ENST00000395603.3_Missense_Mutation_p.S654L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	692					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CACTGGAACTGATAGTTTTTG	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											144.0	141.0	142.0					X																	76938673		2203	4295	6498	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2075C>T	X.37:g.76938673G>A	ENSP00000362441:p.Ser692Leu		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S692L	ENST00000373344.5	37	c.2075	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.906618	0.00512	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92965	-3.12;-3.14	5.41	3.27	0.37495	.	0.663319	0.12287	N	0.482317	D	0.88198	0.6372	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.0	T	0.76828	-0.2815	10	0.31617	T	0.26	1.6385	12.4595	0.55723	0.168:0.0:0.832:0.0	.	692;624;654;692	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	L	692;654;619	ENSP00000362441:S692L;ENSP00000378967:S654L	ENSP00000362441:S692L	S	-	2	0	ATRX	76825329	0.897000	0.30589	0.001000	0.08648	0.012000	0.07955	3.870000	0.56070	1.031000	0.39867	0.513000	0.50165	TCA	ATRX	-	NULL		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	G	NM_000489		76938673	-1	no_errors	ENST00000373344	ensembl	human	known	70_37	missense	SNP	0.000	A
AXDND1	126859	genome.wustl.edu	37	1	179503992	179503992	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:179503992G>A	ENST00000367618.3	+	25	3313	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	976	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAGTCTAaagaagagaaaga	0.328																																																	0													53.0	57.0	56.0					1																	179503992		2195	4296	6491	SO:0001583	missense	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2926G>A	1.37:g.179503992G>A	ENSP00000356590:p.Glu976Lys		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.E976K	ENST00000367618.3	37	c.2926	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463478	0.26248	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	2.1;1.98	4.18	-4.76	0.03229	.	1.458220	0.04883	N	0.448112	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37454	-0.9705	10	0.11182	T	0.66	-0.6741	11.7507	0.51847	0.6183:0.0:0.3817:0.0	.	860;976	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	K	976;860;836	ENSP00000356590:E976K;ENSP00000391716:E836K	ENSP00000353471:E860K	E	+	1	0	AXDND1	177770615	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.372000	0.07504	-1.085000	0.03088	-0.218000	0.12543	GAA	AXDND1	-	NULL		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	G	NM_144696		179503992	+1	no_errors	ENST00000367618	ensembl	human	known	70_37	missense	SNP	0.000	A
B4GALNT3	283358	genome.wustl.edu	37	12	662716	662716	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:662716C>G	ENST00000266383.5	+	14	1640	c.1627C>G	c.(1627-1629)Cag>Gag	p.Q543E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	543					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GAACCTGCCTCAGATGAGGGG	0.617																																																	0													37.0	41.0	39.0					12																	662716		2203	4299	6502	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1627C>G	12.37:g.662716C>G	ENSP00000266383:p.Gln543Glu		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.Q543E	ENST00000266383.5	37	c.1627	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252095	0.01469	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.29397	3.59;1.57	5.54	3.69	0.42338	.	62.624000	0.01224	U	0.008180	T	0.22085	0.0532	N	0.25647	0.755	0.09310	N	1	B;B	0.18166	0.026;0.01	B;B	0.15870	0.014;0.004	T	0.33189	-0.9878	10	0.02654	T	1	6.1137	8.243	0.31671	0.0:0.6178:0.3012:0.081	.	446;543	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	E	543;446	ENSP00000266383:Q543E;ENSP00000322953:Q446E	ENSP00000266383:Q543E	Q	+	1	0	B4GALNT3	532977	0.002000	0.14202	0.020000	0.16555	0.007000	0.05969	1.122000	0.31295	0.673000	0.31224	0.655000	0.94253	CAG	B4GALNT3	-	NULL		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	C	NM_173593		662716	+1	no_errors	ENST00000266383	ensembl	human	known	70_37	missense	SNP	0.004	G
B4GALNT3	283358	genome.wustl.edu	37	12	663003	663003	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:663003C>T	ENST00000266383.5	+	14	1927	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	638					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCAGACCTTCAGTGCCCGGA	0.542																																																	0													136.0	107.0	117.0					12																	663003		2203	4300	6503	SO:0001819	synonymous_variant	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1914C>T	12.37:g.663003C>T			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.F638	ENST00000266383.5	37	c.1914	CCDS8504.1	12																																																																																			B4GALNT3	-	NULL		0.542	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	C	NM_173593		663003	+1	no_errors	ENST00000266383	ensembl	human	known	70_37	silent	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69653776	69653776	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:69653776G>T	ENST00000370598.1	+	6	1906	c.1085G>T	c.(1084-1086)gGt>gTt	p.G362V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	362	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTACATGTGGTCGAGGCCAA	0.433																																																	0													253.0	199.0	218.0					6																	69653776		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1085G>T	6.37:g.69653776G>T	ENSP00000359630:p.Gly362Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G362V	ENST00000370598.1	37	c.1085	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927854	0.92389	.	.	ENSG00000135298	ENST00000370598	T	0.71341	-0.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91372	0.5120	10	0.66056	D	0.02	.	18.8322	0.92144	0.0:0.0:1.0:0.0	.	362	O60242	BAI3_HUMAN	V	362	ENSP00000359630:G362V	ENSP00000359630:G362V	G	+	2	0	BAI3	69710497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.673000	0.90976	0.650000	0.86243	GGT	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69653776	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	70040418	70040418	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:70040418G>A	ENST00000370598.1	+	23	3877	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	BAI3_ENST00000546190.1_5'Flank|BAI3_ENST00000238918.8_Missense_Mutation_p.G225E	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1019					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTCTTGAAGGAGGACTACTC	0.368																																																	0													113.0	102.0	106.0					6																	70040418		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3056G>A	6.37:g.70040418G>A	ENSP00000359630:p.Gly1019Glu		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1019E	ENST00000370598.1	37	c.3056	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.284409	0.95517	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.41400	1.0;1.0	6.17	6.17	0.99709	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.43701	1.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49312	-0.8953	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	225;1019;1019	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	E	1019;225	ENSP00000359630:G1019E;ENSP00000238918:G225E	ENSP00000238918:G225E	G	+	2	0	BAI3	70097139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			70040418	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A
BAIAP2-AS1	440465	genome.wustl.edu	37	17	79005113	79005113	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79005113C>G	ENST00000577066.1	-	0	2281					NR_026857.1				BAIAP2 antisense RNA 1 (head to head)																		CTCTCCCGCTCTGGAACTTTC	0.552																																																	0																																												440465			AK027350, AK056555, AK075238, AK096609		17q25.3	2012-10-15	2012-10-15		ENSG00000226137	ENSG00000226137		"""Long non-coding RNAs"""	44342	non-coding RNA	RNA, long non-coding			"""BAIAP2 antisense RNA 1 (non-protein coding)"", ""BAIAP2 antisense RNA 1"""				Standard	NR_026857		Approved		uc002jyy.2		OTTHUMG00000177697		17.37:g.79005113C>G				RNA	SNP	-	NULL	ENST00000577066.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	5.316	0.243578	0.10077	.	.	ENSG00000226137	ENST00000542745	.	.	.	3.34	2.34	0.29019	.	.	.	.	.	T	0.56001	0.1956	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66630	-0.5875	4	0.87932	D	0	.	8.4806	0.33040	0.0:0.7594:0.2406:0.0	.	.	.	.	Q	54	.	ENSP00000442580:E54Q	E	-	1	0	AC127496.3	76619708	0.262000	0.24073	0.808000	0.32385	0.282000	0.26991	0.850000	0.27737	0.718000	0.32166	-0.274000	0.10170	GAG	BAIAP2-AS1	-	-		0.552	BAIAP2-AS1-001	KNOWN	basic	lincRNA	BAIAP2-AS1	HGNC	lincRNA	OTTHUMT00000438544.1	C	NR_026857		79005113	-1	no_errors	ENST00000542745	ensembl	human	known	70_37	rna	SNP	0.887	G
BARX1	56033	genome.wustl.edu	37	9	96715209	96715209	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:96715209C>T	ENST00000253968.6	-	2	709	c.484G>A	c.(484-486)Gag>Aag	p.E162K	BARX1_ENST00000401724.1_Missense_Mutation_p.E8K|RP11-231K24.2_ENST00000453045.1_lincRNA	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	162					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						TTCTGCTTCTCGAAGCGTTTC	0.657																																																	0													62.0	38.0	46.0					9																	96715209		2199	4297	6496	SO:0001583	missense	56033				CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"""Homeoboxes / ANTP class : NKL subclass"""	955	protein-coding gene	gene with protein product		603260	"""BarH-like homeobox 1"""				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.484G>A	9.37:g.96715209C>T	ENSP00000253968:p.Glu162Lys		Q6P2R4|Q96GH8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.E162K	ENST00000253968.6	37	c.484	CCDS35070.2	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993757	0.93167	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	D;D	0.96168	-3.93;-3.93	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	N	0.20807	0.61	0.58432	D	0.999993	P	0.47545	0.897	P	0.46543	0.52	D	0.92761	0.6224	10	0.40728	T	0.16	.	17.0847	0.86608	0.0:1.0:0.0:0.0	.	162	Q9HBU1	BARX1_HUMAN	K	162;8	ENSP00000253968:E162K;ENSP00000385613:E8K	ENSP00000253968:E162K	E	-	1	0	BARX1	95755030	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.771000	0.47670	2.261000	0.74972	0.561000	0.74099	GAG	BARX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.657	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX1	HGNC	protein_coding	OTTHUMT00000053164.4	C			96715209	-1	no_errors	ENST00000253968	ensembl	human	known	70_37	missense	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160181437	160181437	+	Nonsense_Mutation	SNP	C	C	A	rs538106370	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:160181437C>A	ENST00000392783.2	-	36	6733	c.6238G>T	c.(6238-6240)Gag>Tag	p.E2080*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.E2044*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.E2046*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.E1980*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2080	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATGCATCCTCATGAGTTTCC	0.303																																																	0													59.0	56.0	57.0					2																	160181437		1803	4084	5887	SO:0001587	stop_gained	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6238G>T	2.37:g.160181437C>A	ENSP00000376534:p.Glu2080*		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E2080*	ENST00000392783.2	37	c.6238	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	48	14.839530	0.99812	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.	.	.	5.48	5.48	0.80851	.	0.000000	0.37136	U	0.002227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.0411	19.7236	0.96153	0.0:1.0:0.0:0.0	.	.	.	.	X	2044;2080;2046;1980	.	ENSP00000339670:E1980X	E	-	1	0	BAZ2B	159889683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.730000	0.93505	0.655000	0.94253	GAG	BAZ2B	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.303	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160181437	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BBC3	27113	genome.wustl.edu	37	19	47725144	47725144	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47725144G>A	ENST00000439096.2	-	4	777	c.497C>T	c.(496-498)tCa>tTa	p.S166L	BBC3_ENST00000341983.4_Missense_Mutation_p.S104L|BBC3_ENST00000449228.1_Silent_p.L200L|BBC3_ENST00000300880.7_Silent_p.L40L	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	166					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCCAGGGTGAGGGGCGGTG	0.617																																																	0													51.0	50.0	50.0					19																	47725144		2202	4300	6502	SO:0001583	missense	27113			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.497C>T	19.37:g.47725144G>A	ENSP00000395862:p.Ser166Leu		B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	NULL	p.S166L	ENST00000439096.2	37	c.497	CCDS12697.1	19	.	.	.	.	.	.	.	.	.	.	g	20.9	4.059352	0.76074	.	.	ENSG00000105327	ENST00000439096;ENST00000341983	.	.	.	4.68	4.68	0.58851	.	0.000000	0.35291	N	0.003315	T	0.61590	0.2359	.	.	.	0.21915	N	0.999479	D;P	0.58268	0.982;0.884	D;B	0.63033	0.91;0.382	T	0.54596	-0.8270	7	.	.	.	.	12.9518	0.58405	0.0:0.0:1.0:0.0	.	104;166	Q9BXH1-2;Q9BXH1	.;BBC3_HUMAN	L	166;104	.	.	S	-	2	0	BBC3	52416984	0.999000	0.42202	0.895000	0.35142	0.988000	0.76386	4.422000	0.59854	2.427000	0.82271	0.655000	0.94253	TCA	BBC3	-	NULL		0.617	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BBC3	HGNC	protein_coding	OTTHUMT00000466874.1	G	NM_014417		47725144	-1	no_errors	ENST00000439096	ensembl	human	known	70_37	missense	SNP	0.916	A
BBS9	27241	genome.wustl.edu	37	7	33296998	33296998	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:33296998C>G	ENST00000242067.6	+	6	1114	c.593C>G	c.(592-594)tCc>tGc	p.S198C	BBS9_ENST00000396127.2_Missense_Mutation_p.S198C|BBS9_ENST00000355070.2_Missense_Mutation_p.S198C|BBS9_ENST00000350941.3_Missense_Mutation_p.S198C|BBS9_ENST00000425508.2_Missense_Mutation_p.S153C|BBS9_ENST00000354265.4_Missense_Mutation_p.S198C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	198					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACTGTCTCTTCCTGCCAACAA	0.423									Bardet-Biedl syndrome																																								0													154.0	143.0	147.0					7																	33296998		2203	4300	6503	SO:0001583	missense	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.593C>G	7.37:g.33296998C>G	ENSP00000242067:p.Ser198Cys		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.S198C	ENST00000242067.6	37	c.593	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959322	0.92726	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	M	0.80422	2.495	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	0.79784	0.974;0.993;0.993;0.993;0.993	D	0.93143	0.6543	10	0.87932	D	0	-13.5396	20.2019	0.98263	0.0:1.0:0.0:0.0	.	198;198;198;198;198	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	C	198;198;198;198;198;198;198;153;76;76	ENSP00000242067:S198C;ENSP00000313122:S198C;ENSP00000379433:S198C;ENSP00000347182:S198C;ENSP00000346214:S198C;ENSP00000405151:S153C;ENSP00000388646:S76C	ENSP00000242067:S198C	S	+	2	0	BBS9	33263523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.776000	0.95493	0.655000	0.94253	TCC	BBS9	-	NULL		0.423	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33296998	+1	no_errors	ENST00000242067	ensembl	human	known	70_37	missense	SNP	1.000	G
BDP1	55814	genome.wustl.edu	37	5	70808110	70808110	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:70808110G>C	ENST00000358731.4	+	18	4365	c.4102G>C	c.(4102-4104)Gaa>Caa	p.E1368Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1368					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TACACCTGTAGAAGAAAAAAG	0.333																																																	0													86.0	85.0	85.0					5																	70808110		1814	4076	5890	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4102G>C	5.37:g.70808110G>C	ENSP00000351575:p.Glu1368Gln		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1368Q	ENST00000358731.4	37	c.4102	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314142	0.81358	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.13089	2.62	4.54	3.67	0.42095	.	0.459681	0.18402	N	0.142336	T	0.27559	0.0677	L	0.50333	1.59	0.48830	D	0.999719	D;D	0.71674	0.992;0.998	P;D	0.71414	0.838;0.973	T	0.01149	-1.1436	10	0.87932	D	0	.	8.6648	0.34114	0.1074:0.0:0.8926:0.0	.	1368;1368	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Q	1368;948	ENSP00000351575:E1368Q	ENSP00000351575:E1368Q	E	+	1	0	BDP1	70843866	0.978000	0.34361	0.263000	0.24496	0.917000	0.54804	1.951000	0.40333	1.026000	0.39733	0.655000	0.94253	GAA	BDP1	-	NULL		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70808110	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.569	C
BEND7	222389	genome.wustl.edu	37	10	13534659	13534659	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:13534659C>G	ENST00000396900.2	-	5	788	c.789G>C	c.(787-789)gaG>gaC	p.E263D	BEND7_ENST00000341083.3_Missense_Mutation_p.E211D|BEND7_ENST00000378605.3_Missense_Mutation_p.E224D|BEND7_ENST00000396898.2_Missense_Mutation_p.E276D			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	263						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAACGCGGCTCTCCTCCGGGG	0.522																																																	0													112.0	116.0	115.0					10																	13534659		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.789G>C	10.37:g.13534659C>G	ENSP00000380108:p.Glu263Asp		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.E263D	ENST00000396900.2	37	c.789		10	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241592	0.10077	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.49432	0.78;0.79;0.82;0.83	5.73	1.7	0.24286	.	0.564173	0.21248	N	0.077687	T	0.37785	0.1016	L	0.59436	1.845	0.26779	N	0.969636	B;P	0.39480	0.321;0.675	B;B	0.32393	0.03;0.145	T	0.25916	-1.0118	10	0.52906	T	0.07	-5.1469	9.8886	0.41276	0.0:0.5429:0.3433:0.1138	.	276;211	E5RFC0;Q8N7W2-3	.;.	D	263;211;276;224	ENSP00000380108:E263D;ENSP00000345773:E211D;ENSP00000380107:E276D;ENSP00000367868:E224D	ENSP00000345773:E211D	E	-	3	2	BEND7	13574665	0.989000	0.36119	0.062000	0.19696	0.012000	0.07955	0.143000	0.16115	0.416000	0.25844	-0.219000	0.12488	GAG	BEND7	-	NULL		0.522	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		C	NM_152751		13534659	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	missense	SNP	0.714	G
BEST4	266675	genome.wustl.edu	37	1	45253357	45253357	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:45253357G>A	ENST00000372207.3	-	1	20	c.21C>T	c.(19-21)ctC>ctT	p.L7L		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	7						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CCGCCACTTTGAGAGTGTATG	0.577																																																	0													51.0	61.0	57.0					1																	45253357		2203	4300	6503	SO:0001819	synonymous_variant	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.21C>T	1.37:g.45253357G>A			Q5JR93	Silent	SNP	pfam_Bestrophin/UPF0187	p.L7	ENST00000372207.3	37	c.21	CCDS514.1	1																																																																																			BEST4	-	NULL		0.577	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	HGNC	protein_coding	OTTHUMT00000023425.1	G	NM_153274		45253357	-1	no_errors	ENST00000372207	ensembl	human	known	70_37	silent	SNP	0.917	A
BHMT	635	genome.wustl.edu	37	5	78416249	78416249	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:78416249G>A	ENST00000274353.5	+	4	469	c.362G>A	c.(361-363)gGa>gAa	p.G121E	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	121	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.G121E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GTAGCAGGAGGAGTGAGTCAG	0.458																																																	1	Substitution - Missense(1)	lung(1)											74.0	67.0	70.0					5																	78416249		2203	4300	6503	SO:0001583	missense	635			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.362G>A	5.37:g.78416249G>A	ENSP00000274353:p.Gly121Glu		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.G121E	ENST00000274353.5	37	c.362	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904718	0.92035	.	.	ENSG00000145692	ENST00000274353	T	0.29917	1.55	5.22	5.22	0.72569	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70714	-0.4796	10	0.62326	D	0.03	-24.3304	19.1596	0.93526	0.0:0.0:1.0:0.0	.	121	Q93088	BHMT1_HUMAN	E	121	ENSP00000274353:G121E	ENSP00000274353:G121E	G	+	2	0	BHMT	78452005	1.000000	0.71417	0.906000	0.35671	0.829000	0.46940	9.420000	0.97426	2.602000	0.87976	0.557000	0.71058	GGA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase		0.458	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	G	NM_001713		78416249	+1	no_errors	ENST00000274353	ensembl	human	known	70_37	missense	SNP	1.000	A
BMS1	9790	genome.wustl.edu	37	10	43294068	43294068	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:43294068G>C	ENST00000374518.5	+	12	2305	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	748					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGGATTTAGAGGAGGTAAG	0.428																																																	0													88.0	94.0	92.0					10																	43294068		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2242G>C	10.37:g.43294068G>C	ENSP00000363642:p.Glu748Gln		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,smart_AARP2CN	p.E748Q	ENST00000374518.5	37	c.2242	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641507	0.47153	.	.	ENSG00000165733	ENST00000374518	T	0.61859	0.07	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.62088	1.915	0.50467	D	0.999872	P	0.41393	0.748	B	0.37480	0.251	T	0.55636	-0.8110	10	0.44086	T	0.13	.	11.4666	0.50243	0.1377:0.0:0.8623:0.0	.	748	Q14692	BMS1_HUMAN	Q	748	ENSP00000363642:E748Q	ENSP00000363642:E748Q	E	+	1	0	BMS1	42614074	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.215000	0.65241	1.523000	0.49018	0.650000	0.86243	GAG	BMS1	-	NULL		0.428	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	G	NM_014753		43294068	+1	no_errors	ENST00000374518	ensembl	human	known	70_37	missense	SNP	1.000	C
BMPR1A	657	genome.wustl.edu	37	10	88677071	88677071	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:88677071G>A	ENST00000372037.3	+	9	1393	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATGCGCCATGAAAACATACT	0.433			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)		yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	0													46.0	41.0	42.0					10																	88677071		2203	4300	6503	SO:0001583	missense	657	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.856G>A	10.37:g.88677071G>A	ENSP00000361107:p.Glu286Lys		A8K6U9|Q8NEN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E286K	ENST00000372037.3	37	c.856	CCDS7378.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.486687	0.96323	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.93366	-3.21	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045241	0.85682	D	0.000000	D	0.91205	0.7229	N	0.20401	0.57	0.80722	D	1	B	0.30021	0.265	B	0.39379	0.298	D	0.89324	0.3642	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	286	P36894	BMR1A_HUMAN	K	286	ENSP00000361107:E286K	ENSP00000224764:E286K	E	+	1	0	BMPR1A	88667051	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA	BMPR1A	-	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		0.433	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1A	HGNC	protein_coding	OTTHUMT00000049170.3	G	NM_004329		88677071	+1	no_errors	ENST00000224764	ensembl	human	known	70_37	missense	SNP	1.000	A
BPI	671	genome.wustl.edu	37	20	36948573	36948573	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:36948573C>G	ENST00000262865.4	+	7	765				CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Intron	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein						defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGTCCATTTTCTTTCTCTCTA	0.488																																																	0													83.0	73.0	76.0					20																	36948573		2203	4300	6503	SO:0001627	intron_variant	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.677-12C>G	20.37:g.36948573C>G			B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	RNA	SNP	-	NULL	ENST00000262865.4	37	NULL	CCDS13303.1	20																																																																																			BPI	-	-		0.488	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BPI	HGNC	protein_coding	OTTHUMT00000079157.2	C	NM_001725		36948573	+1	no_errors	ENST00000489039	ensembl	human	known	70_37	rna	SNP	0.178	G
BRCA2	675	genome.wustl.edu	37	13	32914967	32914967	+	Nonsense_Mutation	SNP	C	C	T	rs398122558		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32914967C>T	ENST00000380152.3	+	11	6708	c.6475C>T	c.(6475-6477)Caa>Taa	p.Q2159*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2159*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2159					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Q2159*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTCAATTTCAACAAGACAA	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	2	Substitution - Nonsense(2)	skin(2)											41.0	42.0	42.0					13																	32914967		2203	4296	6499	SO:0001587	stop_gained	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6475C>T	13.37:g.32914967C>T	ENSP00000369497:p.Gln2159*		O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.Q2159*	ENST00000380152.3	37	c.6475	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.812620	0.99471	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.34	1.51	0.23008	.	0.270733	0.31797	N	0.007052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5626	0.27860	0.5028:0.4215:0.0757:0.0	.	.	.	.	X	2159	.	ENSP00000369497:Q2159X	Q	+	1	0	BRCA2	31812967	0.815000	0.29118	0.004000	0.12327	0.030000	0.12068	0.496000	0.22499	0.033000	0.15463	-0.335000	0.08231	CAA	BRCA2	-	pirsf_BRCA2		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	C	NM_000059		32914967	+1	no_errors	ENST00000380152	ensembl	human	known	70_37	nonsense	SNP	0.190	T
BRE	9577	genome.wustl.edu	37	2	28117528	28117528	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:28117528G>C	ENST00000342045.2	+	3	246	c.105G>C	c.(103-105)ttG>ttC	p.L35F	BRE_ENST00000379624.1_Missense_Mutation_p.L35F|BRE_ENST00000603461.1_Intron|BRE_ENST00000361704.2_Missense_Mutation_p.L35F|BRE_ENST00000379632.2_Missense_Mutation_p.L35F|BRE_ENST00000344773.2_Missense_Mutation_p.L35F	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAACTGTTTGAGGATAACTG	0.443																																																	0													186.0	171.0	176.0					2																	28117528		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.105G>C	2.37:g.28117528G>C	ENSP00000339371:p.Leu35Phe			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.L35F	ENST00000342045.2	37	c.105	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768721	0.69878	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	5.03	0.67393	.	0.150630	0.44285	D	0.000466	T	0.68632	0.3022	L	0.50333	1.59	0.46356	D	0.999007	D;D;D;D	0.76494	0.997;0.999;0.998;0.96	D;D;P;D	0.78314	0.991;0.928;0.882;0.943	T	0.70673	-0.4807	9	0.66056	D	0.02	-7.1202	10.8586	0.46812	0.1507:0.0:0.8493:0.0	.	35;35;35;35	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	F	35	.	ENSP00000339371:L35F	L	+	3	2	BRE	27971032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.195000	0.42677	1.509000	0.48786	-0.136000	0.14681	TTG	BRE	-	pfam_Brain/reproduct-express_prot		0.443	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	G			28117528	+1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	C
BRF2	55290	genome.wustl.edu	37	8	37704661	37704661	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:37704661G>T	ENST00000220659.6	-	3	367	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.L83M	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GGCAACTGCAGAACTCGACAA	0.532																																																	0													107.0	102.0	103.0					8																	37704661		2203	4300	6503	SO:0001583	missense	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.247C>A	8.37:g.37704661G>T	ENSP00000220659:p.Leu83Met		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.L83M	ENST00000220659.6	37	c.247	CCDS6098.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458795	0.84317	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.69	3.9	0.45041	Cyclin-like (3);	0.072669	0.56097	D	0.000021	T	0.64505	0.2604	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	P	0.53549	0.729	T	0.64976	-0.6280	9	0.49607	T	0.09	.	12.2551	0.54619	0.1376:0.0:0.8624:0.0	.	83	Q9HAW0	BRF2_HUMAN	M	83;60;83	.	ENSP00000220659:L83M	L	-	1	2	BRF2	37823819	1.000000	0.71417	0.947000	0.38551	0.997000	0.91878	4.872000	0.63050	0.760000	0.33108	0.557000	0.71058	CTG	BRF2	-	superfamily_Cyclin-like		0.532	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	HGNC	protein_coding	OTTHUMT00000376811.2	G	NM_018310		37704661	-1	no_errors	ENST00000220659	ensembl	human	known	70_37	missense	SNP	0.999	T
BRICD5	283870	genome.wustl.edu	37	16	2259503	2259503	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2259503C>G	ENST00000562360.1	-	5	642	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Intron			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	215						integral component of membrane (GO:0016021)											GCCCCCAGCTCCTCAAACCAT	0.657																																																	0													47.0	54.0	52.0					16																	2259503		2198	4300	6498	SO:0001583	missense	283870			BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.643G>C	16.37:g.2259503C>G	ENSP00000455052:p.Glu215Gln		C9J7K2|Q8IXU9	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E215Q	ENST00000562360.1	37	c.643	CCDS10463.1	16																																																																																			BRICD5	-	NULL		0.657	BRICD5-002	KNOWN	basic|CCDS	protein_coding	BRICD5	HGNC	protein_coding	OTTHUMT00000435091.1	C	NM_182563		2259503	-1	no_errors	ENST00000562360	ensembl	human	known	70_37	missense	SNP	0.000	G
BSG	682	genome.wustl.edu	37	19	577839	577839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:577839G>T	ENST00000333511.3	+	2	203	c.133G>T	c.(133-135)Gag>Tag	p.E45*	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	45					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCACTGCGAGGCCGTGGG	0.701																																																	0													16.0	16.0	16.0					19																	577839		2177	4256	6433	SO:0001587	stop_gained	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.133G>T	19.37:g.577839G>T	ENSP00000333769:p.Glu45*		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E45*	ENST00000333511.3	37	c.133	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199875	0.79015	.	.	ENSG00000172270	ENST00000333511	.	.	.	3.53	2.47	0.30058	.	0.128288	0.50627	U	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-25.8943	10.0409	0.42158	0.1059:0.0:0.8941:0.0	.	.	.	.	X	45	.	ENSP00000333769:E45X	E	+	1	0	BSG	528839	1.000000	0.71417	0.597000	0.28824	0.506000	0.33950	4.635000	0.61332	0.572000	0.29383	-0.384000	0.06662	GAG	BSG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.701	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	G	NM_001728		577839	+1	no_errors	ENST00000333511	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BST1	683	genome.wustl.edu	37	4	15704793	15704793	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:15704793C>G	ENST00000265016.4	+	1	221	c.26C>G	c.(25-27)tCg>tGg	p.S9W	BST1_ENST00000382346.3_Missense_Mutation_p.S9W	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	9					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TGCGCGGCATCGCGgctgctc	0.697																																																	0													4.0	5.0	5.0					4																	15704793		1937	4046	5983	SO:0001583	missense	683			D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.26C>G	4.37:g.15704793C>G	ENSP00000265016:p.Ser9Trp		B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.S9W	ENST00000265016.4	37	c.26	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713814	0.30413	.	.	ENSG00000109743	ENST00000265016;ENST00000382346	T;T	0.15952	2.39;2.38	2.05	-4.11	0.03928	.	4.748740	0.01303	N	0.010348	T	0.12220	0.0297	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	B	0.33042	0.157	T	0.36335	-0.9752	10	0.87932	D	0	0.3675	3.7969	0.08743	0.0:0.2521:0.3563:0.3915	.	9	Q10588	BST1_HUMAN	W	9	ENSP00000265016:S9W;ENSP00000371783:S9W	ENSP00000265016:S9W	S	+	2	0	BST1	15313891	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.744000	0.04839	-2.007000	0.00956	-0.362000	0.07510	TCG	BST1	-	NULL		0.697	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	C	NM_004334		15704793	+1	no_errors	ENST00000265016	ensembl	human	known	70_37	missense	SNP	0.000	G
MALRD1	340895	genome.wustl.edu	37	10	19636794	19636794	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:19636794C>A	ENST00000454679.2	+	10	1884	c.1884C>A	c.(1882-1884)agC>agA	p.S628R				Q5VYJ5	MALR1_HUMAN		628	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						AAGCTAGCAGCATCCCTGCAG	0.473																																																	0																																										SO:0001583	missense	340895																														ENST00000454679.2:c.1884C>A	10.37:g.19636794C>A	ENSP00000412763:p.Ser628Arg		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom	p.S628R	ENST00000454679.2	37	c.1884		10	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793895	0.16327	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	T;T	0.02197	4.4;4.4	4.88	3.04	0.35103	.	.	.	.	.	T	0.02533	0.0077	.	.	.	0.23653	N	0.9972	.	.	.	.	.	.	T	0.49418	-0.8942	5	.	.	.	.	7.7341	0.28804	0.0:0.6809:0.0:0.3191	.	.	.	.	R	641;628	ENSP00000366477:S641R;ENSP00000412763:S628R	.	S	+	3	2	C10orf112	19676800	0.021000	0.18746	0.033000	0.17914	0.545000	0.35147	0.087000	0.14958	0.659000	0.30945	0.591000	0.81541	AGC	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.473	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		C			19636794	+1	no_errors	ENST00000454679	ensembl	human	known	70_37	missense	SNP	0.290	A
MALRD1	340895	genome.wustl.edu	37	10	19884191	19884191	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:19884191G>A	ENST00000454679.2	+	20	3847	c.3847G>A	c.(3847-3849)Gtc>Atc	p.V1283I	U3_ENST00000363675.1_RNA|C10orf112_ENST00000455457.2_Missense_Mutation_p.V111I			Q5VYJ5	MALR1_HUMAN		1283	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						ACTCCAATGTGTCCCTCTCTC	0.463																																																	0																																										SO:0001583	missense	340895																														ENST00000454679.2:c.3847G>A	10.37:g.19884191G>A	ENSP00000412763:p.Val1283Ile		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom	p.V1283I	ENST00000454679.2	37	c.3847		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.484|0.484	-0.878352|-0.878352	0.02550|0.02550	.|.	.|.	ENSG00000204740|ENSG00000204740	ENST00000377265|ENST00000377266;ENST00000454679;ENST00000455457	D|D;D;D	0.99919|0.90676	-8.0|-2.71;-2.71;-2.71	4.41|4.41	-0.141|-0.141	0.13452|0.13452	.|.	.|.	.|.	.|.	.|.	D|D	0.83945|0.83945	0.5364|0.5364	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.71293|0.71293	-0.4636|-0.4636	5|5	.|.	.|.	.|.	.|.	4.6137|4.6137	0.12415|0.12415	0.4023:0.0:0.4545:0.1432|0.4023:0.0:0.4545:0.1432	.|.	.|.	.|.	.|.	Y|I	267|1296;1283;111	ENSP00000366476:C267Y|ENSP00000366477:V1296I;ENSP00000412763:V1283I;ENSP00000391253:V111I	.|.	C|V	+|+	2|1	0|0	C10orf112|C10orf112	19924197|19924197	0.969000|0.969000	0.33509|0.33509	0.165000|0.165000	0.22776|0.22776	0.685000|0.685000	0.39939|0.39939	0.523000|0.523000	0.22925|0.22925	-0.130000|-0.130000	0.11599|0.11599	0.563000|0.563000	0.77884|0.77884	TGT|GTC	C10orf112	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.463	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		G			19884191	+1	no_errors	ENST00000454679	ensembl	human	known	70_37	missense	SNP	0.278	A
C10orf128	170371	genome.wustl.edu	37	10	50369632	50369632	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:50369632C>G	ENST00000474718.1	-	5	316				C10orf128_ENST00000374151.3_Intron|C10orf128_ENST00000374148.1_Missense_Mutation_p.K154N|C10orf128_ENST00000374153.2_Intron	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						AGTGATCACTCTTACAACTCA	0.502											OREG0020181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122.0	115.0	117.0					10																	50369632		1933	4133	6066	SO:0001627	intron_variant	170371			BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.293+11G>C	10.37:g.50369632C>G		969	A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	NULL	p.K154N	ENST00000474718.1	37	c.462	CCDS41519.1	10	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066723	0.20067	.	.	ENSG00000204161	ENST00000374148	T	0.52754	0.65	4.63	1.56	0.23342	.	.	.	.	.	T	0.32675	0.0837	.	.	.	0.09310	N	0.999999	B	0.33044	0.395	B	0.33121	0.158	T	0.21245	-1.0251	8	0.48119	T	0.1	.	4.5809	0.12259	0.1704:0.6345:0.0:0.1951	.	154	Q5T292-3	.	N	154	ENSP00000363263:K154N	ENSP00000363263:K154N	K	-	3	2	C10orf128	50039638	0.000000	0.05858	0.001000	0.08648	0.486000	0.33341	-0.095000	0.11077	0.379000	0.24794	0.460000	0.39030	AAG	C10orf128	-	NULL		0.502	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf128	HGNC	protein_coding	OTTHUMT00000047978.1	C	NM_001010863		50369632	-1	no_errors	ENST00000374148	ensembl	human	known	70_37	missense	SNP	0.000	G
C10orf12	26148	genome.wustl.edu	37	10	98742023	98742023	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98742023G>C	ENST00000286067.2	+	1	983	c.876G>C	c.(874-876)ctG>ctC	p.L292L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	292										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCCGAACCTGAGCAGCTCCC	0.567																																																	0													66.0	69.0	68.0					10																	98742023		2203	4300	6503	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.876G>C	10.37:g.98742023G>C			Q9H945|Q9Y457	Silent	SNP	NULL	p.L292	ENST00000286067.2	37	c.876	CCDS7452.1	10																																																																																			C10orf12	-	NULL		0.567	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742023	+1	no_errors	ENST00000286067	ensembl	human	known	70_37	silent	SNP	0.000	C
C10orf12	26148	genome.wustl.edu	37	10	98742703	98742703	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98742703G>C	ENST00000286067.2	+	1	1663	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	519										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTGCTGACAGATGCCTAAGA	0.403																																																	0													73.0	80.0	78.0					10																	98742703		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1556G>C	10.37:g.98742703G>C	ENSP00000286067:p.Arg519Thr		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.R519T	ENST00000286067.2	37	c.1556	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432798	0.04669	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07800	3.16	4.27	2.42	0.29668	.	0.548875	0.16626	N	0.206275	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	0.999999	B	0.33612	0.419	B	0.33690	0.168	T	0.38779	-0.9645	10	0.12766	T	0.61	-6.6441	9.4926	0.38969	0.1684:0.0:0.8316:0.0	.	519	Q8N655	CJ012_HUMAN	T	519;353	ENSP00000286067:R519T	ENSP00000286067:R519T	R	+	2	0	C10orf12	98732693	1.000000	0.71417	0.067000	0.19924	0.021000	0.10359	1.762000	0.38451	0.764000	0.33197	-0.258000	0.10820	AGA	C10orf12	-	NULL		0.403	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98742703	+1	no_errors	ENST00000286067	ensembl	human	known	70_37	missense	SNP	0.142	C
CCDC186	55088	genome.wustl.edu	37	10	115894805	115894805	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:115894805G>C	ENST00000369287.3	-	10	1788	c.1522C>G	c.(1522-1524)Cta>Gta	p.L508V	C10orf118_ENST00000543782.1_Missense_Mutation_p.L106V	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		508										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCATCTTCTAGACATTTCACC	0.274																																																	0													84.0	83.0	83.0					10																	115894805		2203	4298	6501	SO:0001583	missense	55088																														ENST00000369287.3:c.1522C>G	10.37:g.115894805G>C	ENSP00000358293:p.Leu508Val		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.L508V	ENST00000369287.3	37	c.1522	CCDS7587.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.884949|3.884949	0.72410|0.72410	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T;T|.	0.59772|.	0.24;0.24|.	6.14|6.14	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61400|0.61400	0.2344|0.2344	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.58651|0.58651	-0.7599|-0.7599	10|5	0.51188|.	T|.	0.08|.	.|.	15.5553|15.5553	0.76187|0.76187	0.0656:0.0:0.9344:0.0|0.0656:0.0:0.9344:0.0	.|.	106;508|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	V|C	508;106;614|136	ENSP00000358293:L508V;ENSP00000441576:L106V|.	ENSP00000358293:L508V|.	L|S	-|-	1|2	2|0	C10orf118|C10orf118	115884795|115884795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.303000|9.303000	0.96183|0.96183	1.628000|1.628000	0.50416|0.50416	0.650000|0.650000	0.86243|0.86243	CTA|TCT	C10orf118	-	NULL		0.274	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	G			115894805	-1	no_errors	ENST00000369287	ensembl	human	known	70_37	missense	SNP	1.000	C
C11orf21	29125	genome.wustl.edu	37	11	2320859	2320859	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:2320859G>C	ENST00000381153.3	-	3	477	c.226C>G	c.(226-228)Cat>Gat	p.H76D	TSPAN32_ENST00000182290.4_5'Flank|TSPAN32_ENST00000381121.3_5'Flank|C11orf21_ENST00000470369.1_5'UTR			Q9P2W6	CK021_HUMAN	chromosome 11 open reading frame 21	76						cytoplasm (GO:0005737)											ACAGGTTCATGAGCGGTGGCA	0.612																																																	0													111.0	120.0	117.0					11																	2320859		692	1591	2283	SO:0001583	missense	29125			AB029488	CCDS44518.1	11p15.5	2012-08-09			ENSG00000110665	ENSG00000110665			13231	protein-coding gene	gene with protein product		611033				11054561	Standard	NM_001142946		Approved		uc009ydj.2	Q9P2W6	OTTHUMG00000009759	ENST00000381153.3:c.226C>G	11.37:g.2320859G>C	ENSP00000370545:p.His76Asp			Missense_Mutation	SNP	NULL	p.H122D	ENST00000381153.3	37	c.364		11	.	.	.	.	.	.	.	.	.	.	G	0.980	-0.697464	0.03279	.	.	ENSG00000110665	ENST00000381153;ENST00000456145	.	.	.	1.32	0.365	0.16131	.	.	.	.	.	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B;B	0.29988	0.093;0.264	B;B	0.24848	0.02;0.056	T	0.16988	-1.0384	8	0.54805	T	0.06	.	3.8712	0.09038	0.2515:0.0:0.7485:0.0	.	122;76	E9PAM5;Q9P2W6	.;CK021_HUMAN	D	76;122	.	ENSP00000370545:H76D	H	-	1	0	C11orf21	2277435	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	0.380000	0.20602	0.124000	0.18369	-0.671000	0.03813	CAT	C11orf21	-	NULL		0.612	C11orf21-001	KNOWN	basic	protein_coding	C11orf21	HGNC	protein_coding	OTTHUMT00000026908.2	G	NM_001142946		2320859	-1	no_errors	ENST00000456145	ensembl	human	known	70_37	missense	SNP	0.001	C
MYRF	745	genome.wustl.edu	37	11	61541448	61541448	+	Silent	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:61541448C>A	ENST00000278836.5	+	8	1221	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	MYRF_ENST00000327797.1_Silent_p.L2L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.L366L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	375					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L366L(1)									GGCCCATGCTCACCTACCGCG	0.612																																																	1	Substitution - coding silent(1)	breast(1)											44.0	42.0	43.0					11																	61541448		2202	4299	6501	SO:0001819	synonymous_variant	745				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1125C>A	11.37:g.61541448C>A			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.L375	ENST00000278836.5	37	c.1125	CCDS44622.1	11																																																																																			C11orf9	-	superfamily_p53-like_TF_DNA-bd		0.612	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	C	NM_013279		61541448	+1	no_errors	ENST00000278836	ensembl	human	known	70_37	silent	SNP	1.000	A
C12orf77	196415	genome.wustl.edu	37	12	25149177	25149177	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:25149177C>G	ENST00000549828.1	-	2	304	c.100G>C	c.(100-102)Gac>Cac	p.D34H	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	34										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GCAATATGGTCTAGTGGATCC	0.433																																																	0													149.0	144.0	145.0					12																	25149177		1942	4141	6083	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.100G>C	12.37:g.25149177C>G	ENSP00000447146:p.Asp34His			Missense_Mutation	SNP	NULL	p.D34H	ENST00000549828.1	37	c.100	CCDS44846.1	12	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529808	0.27387	.	.	ENSG00000226397	ENST00000549828	T	0.57273	0.41	4.85	4.85	0.62838	.	.	.	.	.	T	0.53158	0.1779	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62746	-0.6789	9	0.87932	D	0	.	14.2138	0.65781	0.0:1.0:0.0:0.0	.	34	C9JDV5	CL097_HUMAN	H	34	ENSP00000447146:D34H	ENSP00000447146:D34H	D	-	1	0	C12orf77	25040444	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	1.734000	0.38166	2.624000	0.88883	0.655000	0.94253	GAC	C12orf77	-	NULL		0.433	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf77	HGNC	protein_coding	OTTHUMT00000407827.1	C	NM_001101339		25149177	-1	no_errors	ENST00000549828	ensembl	human	known	70_37	missense	SNP	1.000	G
TRPV2	51393	genome.wustl.edu	37	17	16342592	16342592	+	IGR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16342592C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCGCGGGGCCGAATCCGGCT	0.701																																																	0													21.0	28.0	26.0					17																	16342592		2178	4263	6441	SO:0001628	intergenic_variant	125144			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342592C>T			A6NML2|A8K0Z0|Q9Y670	RNA	SNP	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			C17orf76-AS1	-	-		0.701	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	C	NM_016113		16342592	+1	no_errors	ENST00000470491	ensembl	human	known	70_37	rna	SNP	0.000	T
C17orf98	388381	genome.wustl.edu	37	17	36997501	36997501	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36997501C>G	ENST00000398575.4	-	1	207	c.142G>C	c.(142-144)Gac>Cac	p.D48H		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	48										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCGTGGTAGTCCTGCTGCGCG	0.617																																																	0													55.0	56.0	55.0					17																	36997501		1974	4157	6131	SO:0001583	missense	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.142G>C	17.37:g.36997501C>G	ENSP00000381580:p.Asp48His			Missense_Mutation	SNP	NULL	p.D48H	ENST00000398575.4	37	c.142	CCDS42310.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346522	0.82022	.	.	ENSG00000214556	ENST00000398575	T	0.57752	0.38	5.16	5.16	0.70880	.	0.000000	0.40640	U	0.001058	T	0.71787	0.3381	M	0.72118	2.19	0.49299	D	0.999774	D	0.89917	1.0	D	0.91635	0.999	T	0.74562	-0.3624	10	0.87932	D	0	-30.7581	16.1916	0.81992	0.0:1.0:0.0:0.0	.	48	A8MV24	CQ098_HUMAN	H	48	ENSP00000381580:D48H	ENSP00000381580:D48H	D	-	1	0	C17orf98	34251027	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.797000	0.62503	2.687000	0.91594	0.462000	0.41574	GAC	C17orf98	-	NULL		0.617	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C17orf98	HGNC	protein_coding	OTTHUMT00000255469.2	C	NM_001080465		36997501	-1	no_errors	ENST00000398575	ensembl	human	known	70_37	missense	SNP	1.000	G
C17orf70	80233	genome.wustl.edu	37	17	79512804	79512804	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79512804C>T	ENST00000327787.8	-	6	2324	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	C17orf70_ENST00000425898.2_Missense_Mutation_p.D409N|C17orf70_ENST00000537152.1_Missense_Mutation_p.D609N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	760					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTGGCGCCATCAGGGGCCACT	0.652																																																	0													59.0	40.0	46.0					17																	79512804		2201	4299	6500	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2278G>A	17.37:g.79512804C>T	ENSP00000333283:p.Asp760Asn		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.D760N	ENST00000327787.8	37	c.2278	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927689	0.34002	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.38401	1.14;1.14;1.14	4.84	3.87	0.44632	.	0.322771	0.28600	N	0.014780	T	0.40423	0.1116	L	0.48642	1.525	0.28921	N	0.892148	D;P	0.55385	0.971;0.95	P;P	0.52514	0.701;0.648	T	0.25710	-1.0124	10	0.38643	T	0.18	.	10.2708	0.43481	0.0:0.9058:0.0:0.0942	.	760;409	Q0VG06;E7EVV8	FP100_HUMAN;.	N	760;409;133;609	ENSP00000333283:D760N;ENSP00000399674:D409N;ENSP00000440151:D609N	ENSP00000333283:D760N	D	-	1	0	C17orf70	77123257	0.045000	0.20229	0.016000	0.15963	0.059000	0.15707	2.186000	0.42593	1.034000	0.39945	0.561000	0.74099	GAT	C17orf70	-	NULL		0.652	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79512804	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.587	T
C19orf43	79002	genome.wustl.edu	37	19	12841840	12841840	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12841840C>T	ENST00000242784.4	-	3	583	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Missense_Mutation_p.E130K	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	156										endometrium(2)|large_intestine(2)	4						TTTTTCACTTCTGCCATGTAC	0.567																																																	0													180.0	156.0	164.0					19																	12841840		2203	4300	6503	SO:0001583	missense	79002			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.466G>A	19.37:g.12841840C>T	ENSP00000242784:p.Glu156Lys			Missense_Mutation	SNP	NULL	p.E156K	ENST00000242784.4	37	c.466	CCDS12279.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.179036	0.94846	.	.	ENSG00000123144	ENST00000242784	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.80763	-0.1237	9	0.87932	D	0	-12.2234	16.7561	0.85499	0.0:1.0:0.0:0.0	.	156	Q9BQ61	CS043_HUMAN	K	156	.	ENSP00000242784:E156K	E	-	1	0	C19orf43	12702840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.167000	0.77562	2.226000	0.72624	0.591000	0.81541	GAA	C19orf43	-	NULL		0.567	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C19orf43	HGNC	protein_coding	OTTHUMT00000450856.1	C	NM_024038		12841840	-1	no_errors	ENST00000242784	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP74	85452	genome.wustl.edu	37	1	1895300	1895300	+	IGR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1895300C>G								TMEM52 (44588 upstream) : C1orf222 (24262 downstream)																							TTGCCAATATCAAAGTCCTGG	0.552																																																	0													79.0	80.0	80.0					1																	1895300		1930	4132	6062	SO:0001628	intergenic_variant	85452																															1.37:g.1895300C>G				Missense_Mutation	SNP	NULL	p.D528H		37	c.1582		1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.277118	0.40294	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.01	4.01	0.46588	.	0.291361	0.28453	N	0.015299	T	0.78349	0.4269	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81784	-0.0774	9	0.87932	D	0	-22.7153	14.0353	0.64640	0.0:1.0:0.0:0.0	.	528;528	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	528	.	ENSP00000270720:D528H	D	-	1	0	C1orf222	1885160	1.000000	0.71417	0.359000	0.25824	0.242000	0.25591	5.148000	0.64857	2.240000	0.73641	0.556000	0.70494	GAT	C1orf222	-	NULL	0	0.552					C1orf222	HGNC			C			1895300	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.904	G
C1orf85	112770	genome.wustl.edu	37	1	156263336	156263336	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156263336G>A	ENST00000362007.1	-	5	856	c.830C>T	c.(829-831)tCa>tTa	p.S277L	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	277					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGCAAAGCCTGATGGGAGGGA	0.597																																																	0													39.0	43.0	42.0					1																	156263336		2203	4300	6503	SO:0001583	missense	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.830C>T	1.37:g.156263336G>A	ENSP00000354553:p.Ser277Leu		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	NULL	p.S277L	ENST00000362007.1	37	c.830	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	G	6.911	0.537692	0.13188	.	.	ENSG00000198715	ENST00000362007	T	0.23552	1.9	5.27	0.114	0.14639	.	0.996198	0.08139	N	0.991878	T	0.08802	0.0218	M	0.62723	1.935	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.38908	-0.9639	10	0.54805	T	0.06	-1.1319	1.1379	0.01758	0.2612:0.1518:0.4306:0.1564	.	196;277	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	L	277	ENSP00000354553:S277L	ENSP00000354553:S277L	S	-	2	0	C1orf85	154529960	0.000000	0.05858	0.023000	0.16930	0.230000	0.25150	0.222000	0.17699	0.392000	0.25172	-0.355000	0.07637	TCA	C1orf85	-	NULL		0.597	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	G	NM_144580		156263336	-1	no_errors	ENST00000362007	ensembl	human	known	70_37	missense	SNP	0.000	A
NOL4L	140688	genome.wustl.edu	37	20	31062436	31062436	+	Missense_Mutation	SNP	C	C	T	rs139591950		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:31062436C>T	ENST00000359676.5	-	2	219	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	C20orf112_ENST00000375678.3_Missense_Mutation_p.R135Q|C20orf112_ENST00000475781.1_5'UTR|C20orf112_ENST00000375677.1_Missense_Mutation_p.R48Q|C20orf112_ENST00000326071.4_Missense_Mutation_p.R26Q	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		26						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTGCGGGCTCCGCATCCTCTC	0.632																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	53.0	54.0		77	5.2	1.0	20	dbSNP_134	54	0,8600		0,0,4300	yes	missense	C20orf112	NM_080616.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	26/437	31062436	1,13005	2203	4300	6503	SO:0001583	missense	140688																														ENST00000359676.5:c.77G>A	20.37:g.31062436C>T	ENSP00000352704:p.Arg26Gln		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.R26Q	ENST00000359676.5	37	c.77	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435958	0.62955	2.27E-4	0.0	ENSG00000197183	ENST00000359676;ENST00000397984;ENST00000326071;ENST00000375677;ENST00000375678	.	.	.	5.2	5.2	0.72013	.	0.305040	0.30762	N	0.008930	T	0.46658	0.1404	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.53912	0.737;0.477	T	0.52253	-0.8600	9	0.87932	D	0	-0.2165	10.898	0.47034	0.0:0.913:0.0:0.087	.	26;26	Q5JYB6;Q96MY1	.;CT112_HUMAN	Q	26;26;26;48;135	.	ENSP00000317413:R26Q	R	-	2	0	C20orf112	30526097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.831000	0.48144	2.430000	0.82344	0.561000	0.74099	CGG	C20orf112	-	NULL		0.632	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	C			31062436	-1	no_errors	ENST00000359676	ensembl	human	known	70_37	missense	SNP	1.000	T
C20orf194	25943	genome.wustl.edu	37	20	3233280	3233280	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:3233280C>G	ENST00000252032.9	-	37	3539	c.3472G>C	c.(3472-3474)Gag>Cag	p.E1158Q	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1158										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTATACTTCTCAATTTCCCGG	0.522																																																	0													242.0	239.0	240.0					20																	3233280		1962	4140	6102	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3472G>C	20.37:g.3233280C>G	ENSP00000252032:p.Glu1158Gln		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E1158Q	ENST00000252032.9	37	c.3472	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460665	0.84317	.	.	ENSG00000088854	ENST00000252032	T	0.22134	1.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.35076	-0.9803	10	0.66056	D	0.02	.	20.0435	0.97601	0.0:1.0:0.0:0.0	.	897;1158	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Q	1158	ENSP00000252032:E1158Q	ENSP00000252032:E1158Q	E	-	1	0	C20orf194	3181280	1.000000	0.71417	0.986000	0.45419	0.736000	0.42039	6.238000	0.72350	2.731000	0.93534	0.650000	0.86243	GAG	C20orf194	-	NULL		0.522	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3233280	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	0.997	G
NOL4L	140688	genome.wustl.edu	37	20	31115566	31115566	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:31115566G>C	ENST00000201961.2	-	2	409	c.190C>G	c.(190-192)Cga>Gga	p.R64G	C20orf112_ENST00000375678.3_Missense_Mutation_p.R23G			Q96MY1	NOL4L_HUMAN		225						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTCACCGCTCGGTAGGTTTTC	0.607																																																	0																																										SO:0001583	missense	140688																														ENST00000201961.2:c.190C>G	20.37:g.31115566G>C	ENSP00000201961:p.Arg64Gly		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.R64G	ENST00000201961.2	37	c.190		20	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633466	0.47049	.	.	ENSG00000197183	ENST00000375678;ENST00000201961	.	.	.	4.52	3.55	0.40652	.	.	.	.	.	T	0.57388	0.2050	L	0.36672	1.1	0.43761	D	0.996275	.	.	.	.	.	.	T	0.61058	-0.7139	6	0.87932	D	0	.	12.0139	0.53303	0.0:0.1742:0.8258:0.0	.	.	.	.	G	23;64	.	ENSP00000201961:R64G	R	-	1	2	C20orf112	30579227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.404000	0.52623	1.096000	0.41439	0.455000	0.32223	CGA	C20orf112	-	NULL		0.607	C20orf112-002	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078629.3	G			31115566	-1	no_errors	ENST00000201961	ensembl	human	known	70_37	missense	SNP	1.000	C
C21orf33	8209	genome.wustl.edu	37	21	45561288	45561288	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:45561288G>C	ENST00000291577.6	+	5	614				C21orf33_ENST00000348499.5_Intron|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33							mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		TAAAAATCTCGATGAAACAAG	0.567																																																	0																																										SO:0001627	intron_variant	8209			Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.521+1064G>C	21.37:g.45561288G>C			A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	RNA	SNP	-	NULL	ENST00000291577.6	37	NULL	CCDS33580.1	21																																																																																			C21orf33	-	-		0.567	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C21orf33	HGNC	protein_coding	OTTHUMT00000195824.1	G	NM_004649		45561288	+1	no_errors	ENST00000493883	ensembl	human	known	70_37	rna	SNP	0.000	C
C2orf71	388939	genome.wustl.edu	37	2	29287839	29287839	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:29287839C>G	ENST00000331664.5	-	2	3762	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1255					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACACAGAACTCTGGGGGAGAT	0.672																																																	0													23.0	30.0	27.0					2																	29287839		1992	4135	6127	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3763G>C	2.37:g.29287839C>G	ENSP00000332809:p.Glu1255Gln			Missense_Mutation	SNP	NULL	p.E1255Q	ENST00000331664.5	37	c.3763	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152949	0.57259	.	.	ENSG00000179270	ENST00000331664	T	0.29397	1.57	5.06	5.06	0.68205	.	0.275128	0.31145	N	0.008162	T	0.52581	0.1743	L	0.59436	1.845	0.35099	D	0.765088	D	0.62365	0.991	D	0.71656	0.974	T	0.63079	-0.6717	10	0.66056	D	0.02	-16.8557	17.5968	0.88014	0.0:1.0:0.0:0.0	.	1255	A6NGG8	CB071_HUMAN	Q	1255	ENSP00000332809:E1255Q	ENSP00000332809:E1255Q	E	-	1	0	C2orf71	29141343	0.895000	0.30542	0.945000	0.38365	0.032000	0.12392	4.083000	0.57643	2.632000	0.89209	0.561000	0.74099	GAG	C2orf71	-	NULL		0.672	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	C	NM_001029883		29287839	-1	no_errors	ENST00000331664	ensembl	human	novel	70_37	missense	SNP	0.987	G
C2orf81	388963	genome.wustl.edu	37	2	74642294	74642294	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74642294G>C	ENST00000517883.1	-	1	1416	c.725C>G	c.(724-726)tCt>tGt	p.S242C	C2orf81_ENST00000290390.5_Missense_Mutation_p.S310C			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	303										endometrium(3)|kidney(1)	4						GCCGCCCACAGAGGGGTAGGA	0.701																																																	0													11.0	14.0	13.0					2																	74642294		691	1587	2278	SO:0001583	missense	388963			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.725C>G	2.37:g.74642294G>C	ENSP00000431103:p.Ser242Cys			Missense_Mutation	SNP	NULL	p.S310C	ENST00000517883.1	37	c.929		2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517386	0.44763	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	3.44	2.53	0.30540	.	1.106450	0.06969	N	0.817759	T	0.56321	0.1977	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.38672	-0.9650	9	0.66056	D	0.02	2.1971	8.6541	0.34053	0.0:0.2359:0.7641:0.0	.	310	G3XAA6	.	C	242;310	.	ENSP00000290390:S310C	S	-	2	0	C2orf81	74495802	0.012000	0.17670	0.001000	0.08648	0.010000	0.07245	1.496000	0.35638	0.756000	0.33013	0.556000	0.70494	TCT	C2orf81	-	NULL		0.701	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	G	NM_001145054		74642294	-1	no_errors	ENST00000290390	ensembl	human	known	70_37	missense	SNP	0.003	C
C2orf81	388963	genome.wustl.edu	37	2	74642323	74642323	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74642323G>C	ENST00000517883.1	-	1	1387	c.696C>G	c.(694-696)atC>atG	p.I232M	C2orf81_ENST00000290390.5_Missense_Mutation_p.I300M			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	293										endometrium(3)|kidney(1)	4						CGCCCGAGGCGATGCAGGGCA	0.672																																																	0													23.0	26.0	25.0					2																	74642323		692	1591	2283	SO:0001583	missense	388963			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.696C>G	2.37:g.74642323G>C	ENSP00000431103:p.Ile232Met			Missense_Mutation	SNP	NULL	p.I300M	ENST00000517883.1	37	c.900		2	.	.	.	.	.	.	.	.	.	.	G	5.736	0.320298	0.10845	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	4.4	-8.79	0.00820	.	2.760420	0.00931	N	0.002708	T	0.37785	0.1016	L	0.51422	1.61	0.09310	N	1	B	0.24882	0.113	B	0.19946	0.027	T	0.19745	-1.0296	9	0.42905	T	0.14	1.7798	7.3903	0.26905	0.199:0.521:0.2008:0.0792	.	300	G3XAA6	.	M	232;300	.	ENSP00000290390:I300M	I	-	3	3	C2orf81	74495831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.133000	0.01308	-3.340000	0.00183	-3.342000	0.00043	ATC	C2orf81	-	NULL		0.672	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	G	NM_001145054		74642323	-1	no_errors	ENST00000290390	ensembl	human	known	70_37	missense	SNP	0.000	C
TSGA10	80705	genome.wustl.edu	37	2	99767059	99767059	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99767059C>G	ENST00000393483.3	-	1	225				C2ORF15_ENST00000302513.2_Missense_Mutation_p.S47C|C2ORF15_ENST00000409684.1_Missense_Mutation_p.S47C	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACTCAGGTATCTGCTATACAT	0.368																																																	0													63.0	64.0	64.0					2																	99767059		2203	4300	6503	SO:0001627	intron_variant	150590			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4096G>C	2.37:g.99767059C>G			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.S47C	ENST00000393483.3	37	c.140	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425173	0.25639	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.51143	0.1657	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.60203	-0.7309	8	0.72032	D	0.01	-1.4026	13.7268	0.62763	0.0:1.0:0.0:0.0	.	47	Q8WU43	CB015_HUMAN	C	47	.	ENSP00000302202:S47C	S	+	2	0	C2orf15	99133491	0.251000	0.23961	0.770000	0.31555	0.372000	0.29890	1.992000	0.40737	2.605000	0.88082	0.462000	0.41574	TCT	C2orf15	-	NULL		0.368	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99767059	+1	no_errors	ENST00000302513	ensembl	human	known	70_37	missense	SNP	0.796	G
C3orf52	79669	genome.wustl.edu	37	3	111835488	111835488	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:111835488G>C	ENST00000264848.5	+	6	708		c.e6-1		C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000431717.2_Splice_Site|C3orf52_ENST00000467942.2_Splice_Site	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTCTTTTTAGAATGAAGTGA	0.343																																																	0													56.0	55.0	56.0					3																	111835488		1834	4091	5925	SO:0001630	splice_region_variant	79669			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.650-1G>C	3.37:g.111835488G>C			B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Splice_Site	SNP	-	e4-1	ENST00000264848.5	37	c.397-1	CCDS46887.1	3	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307104	0.23821	.	.	ENSG00000114529	ENST00000431717;ENST00000264848;ENST00000484828	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7502	0.57304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf52	113318178	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	3.817000	0.55668	2.726000	0.93360	0.655000	0.94253	.	C3orf52	-	-		0.343	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf52	HGNC	protein_coding	OTTHUMT00000353961.1	G	NM_024616	Intron	111835488	+1	no_errors	ENST00000431717	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ZGRF1	55345	genome.wustl.edu	37	4	113474997	113474997	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:113474997C>T	ENST00000505019.1	-	22	5465	c.5340G>A	c.(5338-5340)ctG>ctA	p.L1780L		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1780						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTACCTGCTTCAGCAGGGTTC	0.343																																																	0													113.0	111.0	112.0					4																	113474997		2203	4299	6502	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.5340G>A	4.37:g.113474997C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L1780	ENST00000505019.1	37	c.5340		4																																																																																			C4orf21	-	NULL		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	C			113474997	-1	no_errors	ENST00000505019	ensembl	human	known	70_37	silent	SNP	0.202	T
C5orf56	441108	genome.wustl.edu	37	5	131796532	131796532	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:131796532G>A	ENST00000337752.2	+	4	498	c.367G>A	c.(367-369)Gag>Aag	p.E123K	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	123										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						taatcaagtagagagacagac	0.488																																																	0													23.0	19.0	21.0					5																	131796532		2193	4276	6469	SO:0001583	missense	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.367G>A	5.37:g.131796532G>A	ENSP00000338228:p.Glu123Lys		A1L3V9|A6NKA0	Missense_Mutation	SNP	NULL	p.E123K	ENST00000337752.2	37	c.367		5	.	.	.	.	.	.	.	.	.	.	G	5.536	0.283815	0.10458	.	.	ENSG00000197536	ENST00000337752	.	.	.	3.05	-0.84	0.10755	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.28038	-1.0056	7	0.87932	D	0	.	2.6385	0.04964	0.3803:0.0:0.4069:0.2129	.	123	Q8N8D9	CE056_HUMAN	K	123	.	ENSP00000338228:E123K	E	+	1	0	C5orf56	131824431	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	-0.224000	0.09928	-0.137000	0.14449	GAG	C5orf56	-	NULL		0.488	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	G	NM_001013717		131796532	+1	no_errors	ENST00000337752	ensembl	human	novel	70_37	missense	SNP	0.000	A
C6orf223	221416	genome.wustl.edu	37	6	43970470	43970470	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43970470G>A	ENST00000336600.5	+	4	356	c.336G>A	c.(334-336)cgG>cgA	p.R112R	C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Silent_p.R92R|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	112										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGCTGGCCCGGATGTCGCGGA	0.726																																																	0													11.0	11.0	11.0					6																	43970470		2193	4287	6480	SO:0001819	synonymous_variant	221416			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.336G>A	6.37:g.43970470G>A			E9PB59|Q8N575	Silent	SNP	NULL	p.R112	ENST00000336600.5	37	c.336	CCDS34459.1	6																																																																																			C6orf223	-	NULL		0.726	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	HGNC	protein_coding	OTTHUMT00000040702.3	G	NM_153246		43970470	+1	no_errors	ENST00000336600	ensembl	human	known	70_37	silent	SNP	0.000	A
C6orf141	135398	genome.wustl.edu	37	6	49518718	49518718	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:49518718C>T	ENST00000529246.2	+	1	606	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	71										breast(1)|prostate(1)	2						ATCGGGCCCTCGGACCTCGGG	0.697																																																	0													11.0	17.0	16.0					6																	49518718		692	1590	2282	SO:0001819	synonymous_variant	135398			AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.213C>T	6.37:g.49518718C>T			A8K1H4|Q8N400|Q96NQ1	Silent	SNP	NULL	p.L71	ENST00000529246.2	37	c.213	CCDS55018.1	6																																																																																			C6orf141	-	NULL		0.697	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf141	HGNC	protein_coding	OTTHUMT00000390228.1	C	NM_153344		49518718	+1	no_errors	ENST00000371194	ensembl	human	known	70_37	silent	SNP	0.000	T
SSMEM1	136263	genome.wustl.edu	37	7	129856149	129856149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:129856149C>T	ENST00000297819.3	+	3	625	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	192						integral component of membrane (GO:0016021)											GGGAAGTTACCAAATGAGCGA	0.502																																																	0													113.0	113.0	113.0					7																	129856149		2203	4300	6503	SO:0001587	stop_gained	136263			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.574C>T	7.37:g.129856149C>T	ENSP00000297819:p.Gln192*			Nonsense_Mutation	SNP	NULL	p.Q192*	ENST00000297819.3	37	c.574	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033935	0.35893	.	.	ENSG00000165120	ENST00000297819	.	.	.	5.56	4.67	0.58626	.	0.322034	0.26863	N	0.022106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.5007	7.7081	0.28661	0.0:0.7383:0.1737:0.088	.	.	.	.	X	192	.	ENSP00000297819:Q192X	Q	+	1	0	C7orf45	129643385	0.065000	0.20965	0.130000	0.21974	0.276000	0.26787	1.106000	0.31098	1.314000	0.45095	0.491000	0.48974	CAA	C7orf45	-	NULL		0.502	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf45	HGNC	protein_coding	OTTHUMT00000349768.1	C	NM_145268		129856149	+1	no_errors	ENST00000297819	ensembl	human	known	70_37	nonsense	SNP	0.117	T
C8orf46	254778	genome.wustl.edu	37	8	67428140	67428140	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:67428140C>G	ENST00000305454.3	+	6	894	c.453C>G	c.(451-453)ctC>ctG	p.L151L	C8orf46_ENST00000521495.1_Missense_Mutation_p.Q119E|C8orf46_ENST00000522977.1_Missense_Mutation_p.Q131E	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	151										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCAGACATCTCAAGAAGATGA	0.547																																																	0													87.0	82.0	83.0					8																	67428140		2203	4300	6503	SO:0001819	synonymous_variant	254778			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.453C>G	8.37:g.67428140C>G			B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.Q131E	ENST00000305454.3	37	c.391	CCDS6191.2	8	.	.	.	.	.	.	.	.	.	.	C	13.93	2.385101	0.42308	.	.	ENSG00000169085	ENST00000521495;ENST00000522977	.	.	.	5.13	3.3	0.37823	.	.	.	.	.	T	0.47801	0.1465	.	.	.	0.50171	D	0.999856	B	0.11235	0.004	B	0.11329	0.006	T	0.42531	-0.9446	7	0.87932	D	0	-8.5383	8.7928	0.34861	0.0:0.7682:0.1502:0.0816	.	131	Q8TAG6-2	.	E	119;131	.	ENSP00000430501:Q119E	Q	+	1	0	C8orf46	67590694	0.985000	0.35326	0.987000	0.45799	0.988000	0.76386	0.482000	0.22276	0.536000	0.28733	0.563000	0.77884	CAA	C8orf46	-	NULL		0.547	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	C	NM_152765		67428140	+1	no_errors	ENST00000522977	ensembl	human	novel	70_37	missense	SNP	0.571	G
C9orf3	84909	genome.wustl.edu	37	9	97522144	97522144	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:97522144G>C	ENST00000375315.2	+	1	79	c.79G>C	c.(79-81)Gta>Cta	p.V27L	C9orf3_ENST00000297979.5_Missense_Mutation_p.V27L|C9orf3_ENST00000277198.2_Missense_Mutation_p.V27L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	27					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAAGCACTATGTACTGGATTT	0.453																																																	0													79.0	76.0	77.0					9																	97522144		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.79G>C	9.37:g.97522144G>C	ENSP00000364464:p.Val27Leu		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.V27L	ENST00000375315.2	37	c.79	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326530	0.41197	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.04234	3.67;3.67;3.67	4.84	3.93	0.45458	.	0.165435	0.38837	N	0.001541	T	0.07954	0.0199	L	0.59436	1.845	0.80722	D	1	P;B;B;P	0.39601	0.552;0.36;0.433;0.68	B;B;B;B	0.40101	0.17;0.161;0.104;0.319	T	0.21314	-1.0249	10	0.39692	T	0.17	-2.2363	13.6195	0.62128	0.076:0.0:0.924:0.0	.	27;27;27;27	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	L	27	ENSP00000277198:V27L;ENSP00000297979:V27L;ENSP00000364464:V27L	ENSP00000277198:V27L	V	+	1	0	C9orf3	96561965	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	6.050000	0.71063	1.222000	0.43521	0.563000	0.77884	GTA	C9orf3	-	NULL		0.453	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97522144	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	1.000	C
C9orf16	79095	genome.wustl.edu	37	9	130925201	130925201	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130925201C>G	ENST00000372994.1	+	2	227				C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16											ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		accttccaggcagagacagca	0.577																																																	0													118.0	118.0	118.0					9																	130925201		692	1591	2283	SO:0001627	intron_variant	79095			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.80-521C>G	9.37:g.130925201C>G			Q5SYV8|Q9Y3F7	RNA	SNP	-	NULL	ENST00000372994.1	37	NULL	CCDS6893.1	9																																																																																			C9orf16	-	-		0.577	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf16	HGNC	protein_coding	OTTHUMT00000054351.1	C	NM_024112		130925201	+1	no_errors	ENST00000492588	ensembl	human	known	70_37	rna	SNP	0.002	G
C9orf114	51490	genome.wustl.edu	37	9	131591057	131591057	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:131591057C>G	ENST00000361256.5	-	3	205	c.165G>C	c.(163-165)aaG>aaC	p.K55N		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	55							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						CTTCCAGGCGCTTTGCCTGTT	0.562																																																	0													103.0	107.0	105.0					9																	131591057		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.165G>C	9.37:g.131591057C>G	ENSP00000354812:p.Lys55Asn		Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.K55N	ENST00000361256.5	37	c.165	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820113	0.50633	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.24151	1.87	5.11	3.2	0.36748	.	0.523000	0.23127	N	0.051637	T	0.26702	0.0653	M	0.64997	1.995	0.31183	N	0.70184	P;B	0.43094	0.799;0.421	B;B	0.42692	0.395;0.154	T	0.21109	-1.0255	10	0.36615	T	0.2	-13.2926	8.1844	0.31330	0.0:0.6899:0.0:0.3101	.	55;55	E7ESY7;Q5T280	.;CI114_HUMAN	N	55	ENSP00000354812:K55N	ENSP00000354812:K55N	K	-	3	2	C9orf114	130630878	0.193000	0.23313	0.967000	0.41034	0.772000	0.43724	0.128000	0.15810	1.248000	0.43934	0.561000	0.74099	AAG	C9orf114	-	NULL		0.562	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	C	NM_016390		131591057	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	missense	SNP	0.904	G
CAB39L	81617	genome.wustl.edu	37	13	49933878	49933878	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:49933878G>A	ENST00000355854.4	-	4	864	c.367C>T	c.(367-369)Cct>Tct	p.P123S	CAB39L_ENST00000347776.5_Missense_Mutation_p.P123S|CAB39L_ENST00000409308.1_Missense_Mutation_p.P123S|CAB39L_ENST00000410043.1_Missense_Mutation_p.P123S	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	123					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AGGATATGAGGATGAGCACTA	0.388																																																	0													166.0	148.0	154.0					13																	49933878		2203	4300	6503	SO:0001583	missense	81617			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.367C>T	13.37:g.49933878G>A	ENSP00000348113:p.Pro123Ser		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.P123S	ENST00000355854.4	37	c.367	CCDS9416.2	13	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924033	0.73213	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041;ENST00000413278	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.052869	0.85682	D	0.000000	T	0.40839	0.1133	M	0.67625	2.065	0.80722	D	1	B	0.18013	0.025	B	0.21546	0.035	T	0.21245	-1.0251	9	.	.	.	-9.7138	18.1237	0.89579	0.0:0.0:1.0:0.0	.	123	Q9H9S4	CB39L_HUMAN	S	123;123;120;123;86;123;123;123	ENSP00000348113:P123S;ENSP00000261669:P123S;ENSP00000386375:P123S;ENSP00000416719:P86S;ENSP00000386328:P123S;ENSP00000409253:P123S;ENSP00000404028:P123S	.	P	-	1	0	CAB39L	48831879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.641000	0.98458	2.507000	0.84556	0.563000	0.77884	CCT	CAB39L	-	pfam_Mo25,superfamily_ARM-type_fold		0.388	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3	G	NM_030925		49933878	-1	no_errors	ENST00000347776	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1259400	1259400	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:1259400C>T	ENST00000348261.5	+	17	3980	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D	CACNA1H_ENST00000358590.4_Silent_p.D1244D|CACNA1H_ENST00000565831.1_Silent_p.D1244D|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1244					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCTTGACGACGACTCGGAGG	0.657																																																	0													27.0	30.0	29.0					16																	1259400		2120	4198	6318	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3732C>T	16.37:g.1259400C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.D1244	ENST00000348261.5	37	c.3732	CCDS45375.1	16																																																																																			CACNA1H	-	NULL		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1259400	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	silent	SNP	0.356	T
CACNA1I	8911	genome.wustl.edu	37	22	40059831	40059831	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:40059831C>G	ENST00000402142.3	+	19	3582	c.3582C>G	c.(3580-3582)atC>atG	p.I1194M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1159M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1159M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I1200M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1194M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1159M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1194					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCTCAGATCGAGGCCGGCA	0.622																																																	0													97.0	107.0	104.0					22																	40059831		2037	4182	6219	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3582C>G	22.37:g.40059831C>G	ENSP00000385019:p.Ile1194Met		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.I1200M	ENST00000402142.3	37	c.3600	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507695	0.27036	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.4	-10.8	0.00216	.	0.098514	0.64402	D	0.000004	D	0.97848	0.9293	M	0.89904	3.07	0.26822	N	0.968775	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.999;0.999;0.955	D	0.98027	1.0374	10	0.87932	D	0	.	14.4623	0.67459	0.1964:0.0843:0.0:0.7192	.	1159;1194;1159;1194	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1194;1159;1194;1159;1200;1159	ENSP00000385019:I1194M;ENSP00000384093:I1159M;ENSP00000383887:I1194M;ENSP00000385680:I1159M;ENSP00000337829:I1200M;ENSP00000383028:I1159M	ENSP00000337829:I1200M	I	+	3	3	CACNA1I	38389777	0.000000	0.05858	0.090000	0.20809	0.283000	0.27025	-2.883000	0.00714	-2.970000	0.00286	-1.268000	0.01426	ATC	CACNA1I	-	NULL		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40059831	+1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.001	G
CAD	790	genome.wustl.edu	37	2	27457541	27457541	+	Silent	SNP	C	C	T	rs17855321		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:27457541C>T	ENST00000403525.1	+	22	3729	c.3585C>T	c.(3583-3585)gtC>gtT	p.V1195V	CAD_ENST00000264705.4_Silent_p.V1258V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTGGAGTCGTGGGAGTAA	0.512																																																	0													73.0	73.0	73.0					2																	27457541		2203	4300	6503	SO:0001819	synonymous_variant	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3585C>T	2.37:g.27457541C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.V1258	ENST00000403525.1	37	c.3774		2																																																																																			CAD	-	tigrfam_CarbamoylP_synth_lsu		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27457541	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	silent	SNP	0.598	T
CADPS	8618	genome.wustl.edu	37	3	62860378	62860378	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:62860378C>G	ENST00000383710.4	-	1	676	c.327G>C	c.(325-327)caG>caC	p.Q109H	CADPS_ENST00000490353.2_Missense_Mutation_p.Q109H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q109H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q109H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	109					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		cctcctctttctgcagccgct	0.647																																																	0													47.0	37.0	40.0					3																	62860378		2160	4221	6381	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.327G>C	3.37:g.62860378C>G	ENSP00000373215:p.Gln109His		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q109H	ENST00000383710.4	37	c.327	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136427	0.37728	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	4.91	3.09	0.35607	.	0.491201	0.22078	N	0.064921	T	0.79015	0.4375	L	0.59436	1.845	0.37634	D	0.921771	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.75616	-0.3256	10	0.72032	D	0.01	.	10.7917	0.46436	0.0:0.8416:0.0:0.1584	.	109;109;109	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	109	ENSP00000373215:Q109H;ENSP00000350632:Q109H;ENSP00000283269:Q109H;ENSP00000418736:Q109H	ENSP00000283269:Q109H	Q	-	3	2	CADPS	62835418	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.598000	0.36740	0.468000	0.27243	-0.254000	0.11334	CAG	CADPS	-	NULL		0.647	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62860378	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G
CALB2	794	genome.wustl.edu	37	16	71408656	71408656	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71408656G>C	ENST00000302628.4	+	3	257	c.180G>C	c.(178-180)aaG>aaC	p.K60N	CALB2_ENST00000349553.5_Missense_Mutation_p.K60N	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	60					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGATGTCAAAGAGTGACAACT	0.453																																																	0													76.0	70.0	72.0					16																	71408656		2198	4300	6498	SO:0001583	missense	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.180G>C	16.37:g.71408656G>C	ENSP00000307508:p.Lys60Asn		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K60N	ENST00000302628.4	37	c.180	CCDS10899.1	16	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816634	0.16607	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	D;D	0.81908	-1.55;-1.54	5.49	4.53	0.55603	EF-hand-like domain (1);	0.171042	0.51477	D	0.000094	T	0.72930	0.3522	N	0.25647	0.755	0.31339	N	0.683919	P;B	0.41080	0.737;0.326	B;B	0.40782	0.34;0.222	T	0.70234	-0.4928	10	0.21540	T	0.41	-33.453	11.4132	0.49937	0.1581:0.0:0.8419:0.0	.	60;60	A6NER6;P22676	.;CALB2_HUMAN	N	60	ENSP00000340294:K60N;ENSP00000307508:K60N	ENSP00000307508:K60N	K	+	3	2	CALB2	69966157	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.439000	0.44846	0.691000	0.31592	-0.797000	0.03246	AAG	CALB2	-	NULL		0.453	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	HGNC	protein_coding	OTTHUMT00000268988.1	G	NM_001740		71408656	+1	no_errors	ENST00000302628	ensembl	human	known	70_37	missense	SNP	1.000	C
CALM2	805	genome.wustl.edu	37	2	47403565	47403565	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:47403565C>G	ENST00000272298.7	-	1	161				CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_Intron|RP11-761B3.1_ENST00000422269.1_Intron	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GCCGGCAGCTCAGCGATGCAC	0.592																																																	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											77.0	73.0	74.0					2																	47403565		2203	4300	6503	SO:0001627	intron_variant	805				CCDS1832.1	2p21.3-p21.1	2013-02-25			ENSG00000143933	ENSG00000143933		"""EF-hand domain containing"", ""Endogenous ligands"""	1445	protein-coding gene	gene with protein product	"""prepro-calmodulin 2"""	114182					Standard	NM_001743		Approved	PHKD, CAMII	uc002rvt.2	P62158	OTTHUMG00000128850	ENST00000272298.7:c.3+14G>C	2.37:g.47403565C>G			P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	RNA	SNP	-	NULL	ENST00000272298.7	37	NULL	CCDS1832.1	2																																																																																			CALM2	-	-		0.592	CALM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM2	HGNC	protein_coding	OTTHUMT00000250789.3	C	NM_001743		47403565	-1	no_errors	ENST00000484408	ensembl	human	known	70_37	rna	SNP	0.000	G
CALCRL	10203	genome.wustl.edu	37	2	188225471	188225471	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:188225471C>A	ENST00000409998.1	-	11	1416	c.635G>T	c.(634-636)tGc>tTc	p.C212F	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.C212F|CALCRL_ENST00000410068.1_Missense_Mutation_p.C212F|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	212					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGACACTTTGCAACTAACCTG	0.388																																																	0													63.0	57.0	59.0					2																	188225471		2203	4300	6503	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.635G>T	2.37:g.188225471C>A	ENSP00000386972:p.Cys212Phe		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.C212F	ENST00000409998.1	37	c.635	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521651	0.85600	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	D;D;D	0.82433	-1.61;-1.61;-1.61	5.6	5.6	0.85130	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	D	0.94928	0.8360	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96561	0.9415	10	0.87932	D	0	.	18.6036	0.91257	0.0:1.0:0.0:0.0	.	212	Q16602	CALRL_HUMAN	F	212	ENSP00000376177:C212F;ENSP00000386972:C212F;ENSP00000387190:C212F	ENSP00000376177:C212F	C	-	2	0	CALCRL	187933716	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.796000	0.85898	2.652000	0.90054	0.650000	0.86243	TGC	CALCRL	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.388	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	HGNC	protein_coding	OTTHUMT00000334648.1	C	NM_005795		188225471	-1	no_errors	ENST00000392370	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMKK2	10645	genome.wustl.edu	37	12	121712275	121712275	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:121712275C>T	ENST00000324774.5	-	2	883	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CAMKK2_ENST00000404169.3_Missense_Mutation_p.E19K|CAMKK2_ENST00000347034.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000446440.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000392474.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000392473.2_Missense_Mutation_p.E19K|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E19K|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000402834.4_Missense_Mutation_p.E19K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E19K	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	19					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCCCCAGCTCATCCTGGGGG	0.652																																																	0													12.0	16.0	14.0					12																	121712275		2146	4226	6372	SO:0001583	missense	10645			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.55G>A	12.37:g.121712275C>T	ENSP00000312741:p.Glu19Lys		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E19K	ENST00000324774.5	37	c.55	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255422	0.59321	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473;ENST00000543477;ENST00000544485;ENST00000398924	T;T;T;T;T;T;T;T;T;T;T	0.74526	-0.84;-0.82;-0.81;-0.82;-0.85;-0.82;-0.85;-0.82;-0.82;1.73;1.02	5.31	4.4	0.53042	.	0.532223	0.15579	N	0.255039	T	0.61337	0.2339	N	0.24115	0.695	0.27279	N	0.958153	B;B;B;B;B;B;B	0.30605	0.058;0.275;0.287;0.004;0.13;0.181;0.136	B;B;B;B;B;B;B	0.28011	0.04;0.037;0.085;0.015;0.055;0.022;0.053	T	0.59936	-0.7360	10	0.62326	D	0.03	2.4041	12.5233	0.56072	0.0:0.9129:0.0:0.0871	.	19;19;19;19;19;19;19	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	K	19	ENSP00000376266:E19K;ENSP00000321230:E19K;ENSP00000445944:E19K;ENSP00000336634:E19K;ENSP00000312741:E19K;ENSP00000388368:E19K;ENSP00000384600:E19K;ENSP00000388273:E19K;ENSP00000376265:E19K;ENSP00000444894:E19K;ENSP00000445400:E19K	ENSP00000312741:E19K	E	-	1	0	CAMKK2	120196658	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.251000	0.51453	2.643000	0.89663	0.462000	0.41574	GAG	CAMKK2	-	NULL		0.652	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	C	NM_172226		121712275	-1	no_errors	ENST00000324774	ensembl	human	known	70_37	missense	SNP	0.998	T
CAMSAP3	57662	genome.wustl.edu	37	19	7671380	7671380	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:7671380G>T	ENST00000160298.4	+	4	645	c.544G>T	c.(544-546)Gag>Tag	p.E182*	CAMSAP3_ENST00000446248.2_Nonsense_Mutation_p.E182*	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	182	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGCTGCAGGAGAAGACCGA	0.716																																																	0													10.0	13.0	12.0					19																	7671380		1902	4088	5990	SO:0001587	stop_gained	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.544G>T	19.37:g.7671380G>T	ENSP00000160298:p.Glu182*		Q8NDF1	Nonsense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E182*	ENST00000160298.4	37	c.544	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	37	6.082900	0.97267	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	.	.	.	4.28	4.28	0.50868	.	0.380597	0.23997	N	0.042509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.7292	13.6119	0.62083	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	ENSP00000160298:E182X	E	+	1	0	KIAA1543	7577380	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.988000	0.40697	1.942000	0.56320	0.289000	0.19496	GAG	CAMSAP3	-	pfam_CH-domain		0.716	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7671380	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	nonsense	SNP	0.997	T
CAMTA1	23261	genome.wustl.edu	37	1	7724494	7724494	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7724494G>C	ENST00000303635.7	+	9	2094	c.1887G>C	c.(1885-1887)caG>caC	p.Q629H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q629H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGTCGAGCAGAACACCCACA	0.657			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													108.0	125.0	120.0					1																	7724494		2203	4299	6502	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1887G>C	1.37:g.7724494G>C	ENSP00000306522:p.Gln629His		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.Q629H	ENST00000303635.7	37	c.1887	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	6.529	0.465841	0.12402	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21543	2.0;2.0	5.12	3.12	0.35913	.	0.298156	0.32785	N	0.005653	T	0.17323	0.0416	L	0.40543	1.245	0.40537	D	0.980984	D	0.56521	0.976	P	0.47744	0.556	T	0.11084	-1.0602	10	0.72032	D	0.01	-9.9307	0.8841	0.01240	0.2538:0.1676:0.4057:0.1729	.	629	Q9Y6Y1	CMTA1_HUMAN	H	629	ENSP00000306522:Q629H;ENSP00000402561:Q629H	ENSP00000306522:Q629H	Q	+	3	2	CAMTA1	7647081	1.000000	0.71417	0.941000	0.38009	0.400000	0.30750	0.815000	0.27253	1.179000	0.42884	-0.374000	0.07098	CAG	CAMTA1	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724494	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	missense	SNP	0.967	C
CAMTA1	23261	genome.wustl.edu	37	1	7724548	7724548	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7724548G>A	ENST00000303635.7	+	9	2148	c.1941G>A	c.(1939-1941)gtG>gtA	p.V647V	CAMTA1_ENST00000439411.2_Silent_p.V647V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCCCACGGTGAAAACGGAGG	0.627			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													109.0	115.0	113.0					1																	7724548		2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1941G>A	1.37:g.7724548G>A			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.V647	ENST00000303635.7	37	c.1941	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7724548	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	1.000	A
CAPN13	92291	genome.wustl.edu	37	2	30955386	30955386	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:30955386C>T	ENST00000295055.8	-	20	2021	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	CAPN13_ENST00000534090.2_Silent_p.V615V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	615					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACCTGAGGGTCACCAGATGCA	0.612																																																	0													28.0	32.0	30.0					2																	30955386		2085	4219	6304	SO:0001819	synonymous_variant	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1845G>A	2.37:g.30955386C>T			Q17RF0|Q580X1|Q8TE80	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.V615	ENST00000295055.8	37	c.1845	CCDS46252.1	2																																																																																			CAPN13	-	NULL		0.612	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30955386	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	silent	SNP	0.856	T
CAPZB	832	genome.wustl.edu	37	1	19683230	19683230	+	Missense_Mutation	SNP	G	G	A	rs377121153		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:19683230G>A	ENST00000375142.1	-	6	533	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CAPZB_ENST00000433834.1_Missense_Mutation_p.R192C|CAPZB_ENST00000264202.6_Missense_Mutation_p.R163C|CAPZB_ENST00000375144.1_Missense_Mutation_p.R151C|CAPZB_ENST00000264203.3_Missense_Mutation_p.R189C|CAPZB_ENST00000401084.2_Missense_Mutation_p.R163C	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	163					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TGGGCGGTGCGACCGCTGGAT	0.552																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4092		0,0,2046	212.0	219.0	216.0		487,565,487	5.4	1.0	1		216	1,8401		0,1,4200	no	missense,missense,missense	CAPZB	NM_001206540.1,NM_001206541.1,NM_004930.3	180,180,180	0,1,6246	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging,possibly-damaging,possibly-damaging	163/278,189/261,163/273	19683230	1,12493	2046	4201	6247	SO:0001583	missense	832			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.487C>T	1.37:g.19683230G>A	ENSP00000364284:p.Arg163Cys		Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta	p.R192C	ENST00000375142.1	37	c.574	CCDS55579.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439099	0.63067	0.0	1.19E-4	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711	.	.	.	5.42	5.42	0.78866	.	0.089951	0.85682	D	0.000000	T	0.80369	0.4610	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.65815	0.987;0.994;0.964;0.995	P;P;P;P	0.61132	0.884;0.853;0.792;0.884	D	0.84412	0.0566	9	0.87932	D	0	-13.8621	12.2888	0.54807	0.0826:0.0:0.9174:0.0	.	192;189;163;151	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	C	163;189;151;163;192;225;163;151	.	ENSP00000264202:R163C	R	-	1	0	CAPZB	19555817	1.000000	0.71417	0.965000	0.40720	0.272000	0.26649	9.172000	0.94808	2.566000	0.86566	0.551000	0.68910	CGC	CAPZB	-	pfam_WASH_F-actin_cap_beta		0.552	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	HGNC	protein_coding	OTTHUMT00000007260.1	G			19683230	-1	no_errors	ENST00000433834	ensembl	human	known	70_37	missense	SNP	0.998	A
CASKIN2	57513	genome.wustl.edu	37	17	73501101	73501101	+	Missense_Mutation	SNP	C	C	G	rs147378527		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:73501101C>G	ENST00000321617.3	-	11	1570	c.984G>C	c.(982-984)caG>caC	p.Q328H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.Q246H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGCCCCTCTGGCTCTCGT	0.706																																																	0													37.0	37.0	37.0					17																	73501101		2200	4294	6494	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.984G>C	17.37:g.73501101C>G	ENSP00000325355:p.Gln328His		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q328H	ENST00000321617.3	37	c.984	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076865	0.76415	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.14022	2.54;2.54	5.59	-1.15	0.09709	Src homology-3 domain (3);Variant SH3 (1);	0.199296	0.25686	N	0.028978	T	0.09379	0.0231	L	0.34521	1.04	0.80722	D	1	B	0.13145	0.007	B	0.20184	0.028	T	0.12889	-1.0530	10	0.56958	D	0.05	.	7.9284	0.29889	0.0:0.6498:0.1376:0.2127	.	328	Q8WXE0	CSKI2_HUMAN	H	328;246	ENSP00000325355:Q328H;ENSP00000406963:Q246H	ENSP00000325355:Q328H	Q	-	3	2	CASKIN2	71012696	0.945000	0.32115	0.996000	0.52242	0.974000	0.67602	1.310000	0.33551	-0.057000	0.13199	-0.459000	0.05422	CAG	CASKIN2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.706	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73501101	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.998	G
CASP14	23581	genome.wustl.edu	37	19	15164631	15164631	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15164631C>T	ENST00000427043.3	+	4	573	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.H89Y	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	89					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACTCATGGCTCACGGGAGGGA	0.562																																																	0													96.0	84.0	88.0					19																	15164631		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.265C>T	19.37:g.15164631C>T	ENSP00000393417:p.His89Tyr		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.H89Y	ENST00000427043.3	37	c.265	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	16.05	3.014252	0.54468	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.39787	1.06;1.06	5.27	5.27	0.74061	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.088039	0.49305	N	0.000144	T	0.73179	0.3554	H	0.94183	3.505	0.58432	D	0.999997	D	0.69078	0.997	D	0.81914	0.995	T	0.81176	-0.1052	10	0.87932	D	0	.	14.3744	0.66862	0.0:1.0:0.0:0.0	.	89	P31944	CASPE_HUMAN	Y	89	ENSP00000393417:H89Y;ENSP00000221740:H89Y	ENSP00000221740:H89Y	H	+	1	0	CASP14	15025631	0.976000	0.34144	0.159000	0.22649	0.449000	0.32228	4.090000	0.57693	2.464000	0.83262	0.306000	0.20318	CAC	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.562	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	C	NM_012114		15164631	+1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.642	T
CASP5	838	genome.wustl.edu	37	11	104871140	104871140	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:104871140T>C	ENST00000260315.3	-	6	799	c.800A>G	c.(799-801)cAt>cGt	p.H267R	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.H125R|CASP5_ENST00000393141.2_Missense_Mutation_p.H280R|CASP5_ENST00000526056.1_Missense_Mutation_p.H280R|CASP5_ENST00000444749.2_Missense_Mutation_p.H209R|CASP5_ENST00000531367.1_Missense_Mutation_p.H125R			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	267					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TAGGATGCCATGAGACATGAG	0.473																																																	0													139.0	126.0	130.0					11																	104871140		2202	4299	6501	SO:0001583	missense	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.800A>G	11.37:g.104871140T>C	ENSP00000260315:p.His267Arg		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.H280R	ENST00000260315.3	37	c.839	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311082	0.40895	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	4.21	4.21	0.49690	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	H	0.97896	4.1	0.80722	D	1	D;D;D;D	0.89917	0.996;0.997;1.0;0.993	D;P;D;D	0.91635	0.915;0.884;0.999;0.945	D	0.83501	0.0075	10	0.87932	D	0	.	11.5415	0.50669	0.0:0.0:0.0:1.0	.	125;209;267;280	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	R	280;125;267;209;280;125	ENSP00000376849:H280R;ENSP00000398130:H125R;ENSP00000260315:H267R;ENSP00000388365:H209R;ENSP00000436877:H280R;ENSP00000434471:H125R	ENSP00000260315:H267R	H	-	2	0	CASP5	104376350	1.000000	0.71417	0.995000	0.50966	0.110000	0.19582	6.413000	0.73308	1.684000	0.51022	0.172000	0.16884	CAT	CASP5	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.473	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	T	NM_004347		104871140	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	missense	SNP	1.000	C
CATSPERB	79820	genome.wustl.edu	37	14	92185816	92185816	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:92185816C>T	ENST00000256343.3	-	5	472	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	106					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAAATCCGATCACTGAACTTG	0.318																																																	0													78.0	68.0	71.0					14																	92185816		2203	4298	6501	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.316G>A	14.37:g.92185816C>T	ENSP00000256343:p.Asp106Asn		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D106N	ENST00000256343.3	37	c.316	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320343	0.41096	.	.	ENSG00000133962	ENST00000256343;ENST00000553329	T	0.41758	0.99	3.62	1.75	0.24633	.	0.617965	0.13470	N	0.385469	T	0.25121	0.0610	L	0.38531	1.155	0.23401	N	0.997757	P	0.36144	0.539	B	0.36134	0.218	T	0.18429	-1.0337	10	0.02654	T	1	-14.4847	6.2295	0.20726	0.0:0.7645:0.0:0.2355	.	106	Q9H7T0	CTSRB_HUMAN	N	106;59	ENSP00000256343:D106N	ENSP00000256343:D106N	D	-	1	0	CATSPERB	91255569	0.032000	0.19561	0.814000	0.32528	0.659000	0.38960	0.155000	0.16362	0.499000	0.27970	0.563000	0.77884	GAT	CATSPERB	-	NULL		0.318	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92185816	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.855	T
CATSPERG	57828	genome.wustl.edu	37	19	38860841	38860841	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:38860841C>T	ENST00000409235.3	+	28	3271	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.F1012F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1052					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCTCACCTTCCTGCTGCACA	0.617																																																	0													66.0	53.0	58.0					19																	38860841		2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3156C>T	19.37:g.38860841C>T			A6NEG6|Q659E1	Silent	SNP	NULL	p.F1052	ENST00000409235.3	37	c.3156	CCDS12514.2	19																																																																																			CATSPERG	-	NULL		0.617	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	C	NM_021185		38860841	+1	no_errors	ENST00000409235	ensembl	human	known	70_37	silent	SNP	0.362	T
CAV2	858	genome.wustl.edu	37	7	116140195	116140195	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:116140195G>C	ENST00000222693.4	+	2	542				CAV2_ENST00000343213.2_Intron|CAV2_ENST00000393480.2_Intron|AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000462876.1_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2						caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GTGACCCTAAGAGAAGAGGCG	0.687																																																	0																																										SO:0001627	intron_variant	858			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.151-119G>C	7.37:g.116140195G>C			A4D0U2|Q9UGM7	RNA	SNP	-	NULL	ENST00000222693.4	37	NULL	CCDS5766.1	7																																																																																			CAV2	-	-		0.687	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	G	NM_001233		116140195	+1	no_errors	ENST00000495841	ensembl	human	known	70_37	rna	SNP	0.000	C
CBFB	865	genome.wustl.edu	37	16	67100696	67100696	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67100696G>T	ENST00000290858.6	+	4	655	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	CBFB_ENST00000561924.2_Missense_Mutation_p.A32S|CBFB_ENST00000412916.2_Missense_Mutation_p.A132S	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	132					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAGGAGCGAGCCCAGGTAGG	0.468			T	MYH11	AML																																			Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													137.0	114.0	122.0					16																	67100696		2200	4300	6500	SO:0001583	missense	865			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.394G>T	16.37:g.67100696G>T	ENSP00000290858:p.Ala132Ser		A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.A132S	ENST00000290858.6	37	c.394	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500452	0.64298	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.79805	2.47	0.80722	D	1	P;P	0.46952	0.863;0.887	D;D	0.80764	0.99;0.994	D	0.84823	0.0797	9	0.72032	D	0.01	-16.0567	18.1601	0.89705	0.0:0.0:1.0:0.0	.	132;132	Q13951-2;Q13951	.;PEBB_HUMAN	S	132	.	ENSP00000290858:A132S	A	+	1	0	CBFB	65658197	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.578000	0.98200	2.648000	0.89879	0.561000	0.74099	GCC	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta		0.468	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	G	NM_001755		67100696	+1	no_errors	ENST00000290858	ensembl	human	known	70_37	missense	SNP	1.000	T
CBLB	868	genome.wustl.edu	37	3	105377916	105377916	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:105377916C>T	ENST00000264122.4	-	19	3168	c.2847G>A	c.(2845-2847)gtG>gtA	p.V949V	CBLB_ENST00000407712.1_Silent_p.V164V|CBLB_ENST00000394027.3_Silent_p.V927V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	949	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGCTCTCTTCACCTCTTCAA	0.478			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													122.0	119.0	120.0					3																	105377916		2203	4300	6503	SO:0001819	synonymous_variant	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2847G>A	3.37:g.105377916C>T			A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.V949	ENST00000264122.4	37	c.2847	CCDS2948.1	3																																																																																			CBLB	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.478	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105377916	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	silent	SNP	0.997	T
CCDC108	255101	genome.wustl.edu	37	2	219900337	219900337	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219900337C>T	ENST00000341552.5	-	5	490	c.407G>A	c.(406-408)aGa>aAa	p.R136K	CCDC108_ENST00000441968.1_Missense_Mutation_p.R136K|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71K|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71K|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125K|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71K|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547																																																	0													138.0	121.0	127.0					2																	219900337		2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.407G>A	2.37:g.219900337C>T	ENSP00000340776:p.Arg136Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.R136K	ENST00000341552.5	37	c.407	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140582	0.21205	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.39	-4.38	0.03622	.	0.954027	0.08649	N	0.914332	T	0.04952	0.0133	N	0.00197	-1.87	0.09310	N	1	B;B;B	0.16603	0.004;0.018;0.001	B;B;B	0.10450	0.003;0.005;0.002	T	0.35649	-0.9780	10	0.10111	T	0.7	-0.0804	3.6771	0.08297	0.1037:0.2868:0.1037:0.5057	.	125;71;136	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	K	136;136;136;125;71;70;125;71;71;71;71	ENSP00000340776:R136K;ENSP00000413377:R136K;ENSP00000409117:R136K;ENSP00000386945:R125K;ENSP00000386258:R71K;ENSP00000393483:R125K;ENSP00000396836:R71K;ENSP00000295729:R71K;ENSP00000313807:R71K;ENSP00000413746:R71K	ENSP00000295729:R71K	R	-	2	0	CCDC108	219608581	0.024000	0.19004	0.015000	0.15790	0.225000	0.24961	-0.415000	0.07106	-0.680000	0.05211	-1.083000	0.02208	AGA	CCDC108	-	NULL		0.547	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219900337	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.108	T
CCDC117	150275	genome.wustl.edu	37	22	29169750	29169750	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:29169750G>C	ENST00000249064.4	+	2	399	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	CCDC117_ENST00000421503.2_Missense_Mutation_p.E75Q|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000443309.2_5'UTR	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	75										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CAAGCGAGAGGAGGAGGAGGA	0.378																																																	0													280.0	245.0	257.0					22																	29169750		2203	4300	6503	SO:0001583	missense	150275			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.223G>C	22.37:g.29169750G>C	ENSP00000249064:p.Glu75Gln		A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	NULL	p.E75Q	ENST00000249064.4	37	c.223	CCDS13846.1	22	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310081	0.23821	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.14266	2.52;2.52	5.24	4.19	0.49359	.	0.826585	0.09220	N	0.832051	T	0.21227	0.0511	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.55455	0.776;0.776	T	0.01162	-1.1432	10	0.48119	T	0.1	.	12.1386	0.53984	0.0:0.0:0.8221:0.1779	.	75;75	B7Z2V1;Q8IWD4	.;CC117_HUMAN	Q	75	ENSP00000249064:E75Q;ENSP00000387827:E75Q	ENSP00000249064:E75Q	E	+	1	0	CCDC117	27499750	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	3.503000	0.53340	1.270000	0.44297	0.561000	0.74099	GAG	CCDC117	-	NULL		0.378	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	HGNC	protein_coding	OTTHUMT00000321258.1	G	NM_173510		29169750	+1	no_errors	ENST00000249064	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC141	285025	genome.wustl.edu	37	2	179714787	179714787	+	Missense_Mutation	SNP	C	C	G	rs139377826		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179714787C>G	ENST00000420890.2	-	21	3463	c.3346G>C	c.(3346-3348)Gaa>Caa	p.E1116Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.E541Q	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1116										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCAGTTTTTCTTCGAGCTCT	0.318																																																	0													91.0	92.0	92.0					2																	179714787		2203	4300	6503	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3346G>C	2.37:g.179714787C>G	ENSP00000395995:p.Glu1116Gln		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E1116Q	ENST00000420890.2	37	c.3346		2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892836	0.33442	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.34072	1.38;1.38;1.38	5.82	4.91	0.64330	.	0.101956	0.42420	D	0.000708	T	0.29223	0.0727	L	0.32530	0.975	0.27539	N	0.950861	P	0.40431	0.717	B	0.37198	0.243	T	0.13495	-1.0507	10	0.23891	T	0.37	-11.9682	18.2365	0.89951	0.0:0.871:0.129:0.0	.	541	Q6ZP82	CC141_HUMAN	Q	1116;560;541	ENSP00000395995:E1116Q;ENSP00000344627:E560Q;ENSP00000295723:E541Q	ENSP00000295723:E541Q	E	-	1	0	CCDC141	179423032	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.837000	0.39201	2.765000	0.95021	0.650000	0.86243	GAA	CCDC141	-	NULL		0.318	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		C	NM_173648		179714787	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC149	91050	genome.wustl.edu	37	4	24810020	24810020	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:24810020C>G	ENST00000389609.4	-	13	1724	c.1581G>C	c.(1579-1581)gtG>gtC	p.V527V	CCDC149_ENST00000504487.1_Silent_p.V527V|CCDC149_ENST00000428116.2_3'UTR|CCDC149_ENST00000502801.1_3'UTR	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	472										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTCAGGTTTTCACGGTGCTCC	0.587																																																	0													29.0	26.0	27.0					4																	24810020		692	1591	2283	SO:0001819	synonymous_variant	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1581G>C	4.37:g.24810020C>G			A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.V527	ENST00000389609.4	37	c.1581	CCDS33967.2	4																																																																																			CCDC149	-	NULL		0.587	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	C	NM_173463		24810020	-1	no_errors	ENST00000504487	ensembl	human	known	70_37	silent	SNP	0.152	G
CCDC150	284992	genome.wustl.edu	37	2	197596820	197596820	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:197596820G>C	ENST00000389175.4	+	27	3268	c.3133G>C	c.(3133-3135)Gag>Cag	p.E1045Q	CCDC150_ENST00000272831.7_Missense_Mutation_p.E692Q|CCDC150_ENST00000409270.1_Missense_Mutation_p.E532Q	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1045										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTACAACTTGAGCTGACAAA	0.403																																																	0													102.0	102.0	102.0					2																	197596820		1852	4089	5941	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3133G>C	2.37:g.197596820G>C	ENSP00000373827:p.Glu1045Gln		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E1045Q	ENST00000389175.4	37	c.3133	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304757	0.81247	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.56611	0.45	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000016	T	0.68778	0.3038	M	0.62723	1.935	0.33117	D	0.541353	D;P	0.76494	0.999;0.947	D;P	0.83275	0.996;0.74	T	0.72981	-0.4126	10	0.33940	T	0.23	-13.4335	15.6931	0.77469	0.0:0.0:1.0:0.0	.	692;1045	B4DZ03;Q8NCX0	.;CC150_HUMAN	Q	692;1045;532	ENSP00000373827:E1045Q	ENSP00000272831:E692Q	E	+	1	0	CCDC150	197305065	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.825000	0.48096	2.679000	0.91253	0.650000	0.86243	GAG	CCDC150	-	NULL		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197596820	+1	no_errors	ENST00000389175	ensembl	human	known	70_37	missense	SNP	0.998	C
CCDC158	339965	genome.wustl.edu	37	4	77305711	77305711	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:77305711G>C	ENST00000388914.3	-	4	548	c.396C>G	c.(394-396)atC>atG	p.I132M	CCDC158_ENST00000434846.2_Missense_Mutation_p.I132M	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	132										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCCCAACCTGATGTCAGCCA	0.308																																																	0													127.0	119.0	121.0					4																	77305711		1848	4104	5952	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.396C>G	4.37:g.77305711G>C	ENSP00000373566:p.Ile132Met		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.I132M	ENST00000388914.3	37	c.396	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203896	0.58234	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.42513	0.99;0.97	5.72	4.88	0.63580	.	0.105490	0.42420	D	0.000710	T	0.47340	0.1440	N	0.19112	0.55	0.30192	N	0.799429	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.931	T	0.48514	-0.9029	10	0.40728	T	0.16	.	11.9185	0.52779	0.0815:0.0:0.9185:0.0	.	132;132	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	M	132	ENSP00000373566:I132M;ENSP00000401742:I132M	ENSP00000316815:I132M	I	-	3	3	CCDC158	77524735	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.662000	0.37418	1.436000	0.47453	0.655000	0.94253	ATC	CCDC158	-	NULL		0.308	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	G	NM_001042784		77305711	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC162P	221262	genome.wustl.edu	37	6	109630722	109630722	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:109630722G>C	ENST00000422819.1	+	0	854							A2VCL2	CC162_HUMAN	coiled-coil domain containing 162, pseudogene																		TCTGTGGGCTGAGTGACCGTG	0.448																																																	0																																												221262					6q21	2011-04-28	2011-04-28	2011-04-28	ENSG00000203799	ENSG00000203799			21565	pseudogene	pseudogene			"""chromosome 6 open reading frame 184"", ""chromosome 6 open reading frame 185"""	C6orf184, C6orf185, CCDC162			Standard	NR_028595		Approved	bA425D10.7, bA425D10.3	uc003ptb.1	A2VCL2	OTTHUMG00000015342		6.37:g.109630722G>C			A1A4V1|A4QMU0|Q5JSU0|Q5JSU7	RNA	SNP	-	NULL	ENST00000422819.1	37	NULL		6																																																																																			CCDC162P	-	-		0.448	CCDC162P-002	KNOWN	basic	processed_transcript	CCDC162P	HGNC	pseudogene	OTTHUMT00000365631.1	G	NR_028595		109630722	+1	no_errors	ENST00000506861	ensembl	human	known	70_37	rna	SNP	1.000	C
CCDC27	148870	genome.wustl.edu	37	1	3670736	3670736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:3670736C>T	ENST00000294600.2	+	2	457	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125								p.R125*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AATGGAACTTCGAAGGGTCTT	0.597																																																	1	Substitution - Nonsense(1)	large_intestine(1)											139.0	133.0	135.0					1																	3670736		2203	4300	6503	SO:0001587	stop_gained	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.373C>T	1.37:g.3670736C>T	ENSP00000294600:p.Arg125*		Q5TBV3|Q96M50	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R125*	ENST00000294600.2	37	c.373	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918295	0.52546	.	.	ENSG00000162592	ENST00000294600	.	.	.	3.19	-3.86	0.04230	.	0.205183	0.23789	N	0.044544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3928	6.8523	0.24022	0.6818:0.2099:0.0:0.1083	.	.	.	.	X	125	.	ENSP00000294600:R125X	R	+	1	2	CCDC27	3660596	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.084000	0.11268	-0.791000	0.04486	0.609000	0.83330	CGA	CCDC27	-	NULL		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	C	NM_152492		3670736	+1	no_errors	ENST00000294600	ensembl	human	known	70_37	nonsense	SNP	0.000	T
CCDC30	728621	genome.wustl.edu	37	1	43111938	43111938	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:43111938G>T	ENST00000340612.4	+	13	2023	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y	CCDC30_ENST00000390640.4_Missense_Mutation_p.D464Y|CCDC30_ENST00000428554.2_Missense_Mutation_p.D675Y|CCDC30_ENST00000507855.1_Missense_Mutation_p.D464Y|CCDC30_ENST00000342022.4_Missense_Mutation_p.D675Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	675						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ccagcatgaggatgagtcagt	0.488																																																	0													50.0	40.0	43.0					1																	43111938		2082	4095	6177	SO:0001583	missense	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2023G>T	1.37:g.43111938G>T	ENSP00000340378:p.Asp675Tyr		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.D675Y	ENST00000340612.4	37	c.2023	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119176	0.08881	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	0.427	0.427	0.16489	.	.	.	.	.	T	0.49423	0.1556	L	0.43152	1.355	0.09310	N	1	D;P	0.58970	0.984;0.921	D;B	0.65323	0.934;0.163	T	0.33879	-0.9851	8	0.62326	D	0.03	.	.	.	.	.	675;464	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Y	675;464;675;675;464	ENSP00000397035:D675Y;ENSP00000426711:D464Y;ENSP00000340378:D675Y;ENSP00000339280:D675Y;ENSP00000375051:D464Y	ENSP00000340378:D675Y	D	+	1	0	CCDC30	42884525	0.293000	0.24371	0.043000	0.18650	0.044000	0.14063	0.356000	0.20181	0.458000	0.26988	0.467000	0.42956	GAT	CCDC30	-	NULL		0.488	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	G	NM_025030		43111938	+1	no_errors	ENST00000340612	ensembl	human	known	70_37	missense	SNP	0.055	T
CCDC39	339829	genome.wustl.edu	37	3	180381770	180381770	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:180381770G>C	ENST00000442201.2	-	2	214	c.95C>G	c.(94-96)tCa>tGa	p.S32*	CCDC39_ENST00000273654.4_Nonsense_Mutation_p.S116*	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	32					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTCAGCTTTGACAACTGTAA	0.303																																																	0													102.0	95.0	97.0					3																	180381770		1825	4101	5926	SO:0001587	stop_gained	339829			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.95C>G	3.37:g.180381770G>C	ENSP00000405708:p.Ser32*		B4E2H1	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S32*	ENST00000442201.2	37	c.95	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.728909	0.96856	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	.	.	.	6.07	2.99	0.34606	.	0.547151	0.19893	N	0.103683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.0097	3.0422	0.06142	0.3234:0.0:0.486:0.1906	.	.	.	.	X	116;32;14	.	ENSP00000273654:S116X	S	-	2	0	CCDC39	181864464	1.000000	0.71417	0.993000	0.49108	0.350000	0.29205	1.223000	0.32527	0.913000	0.36797	-0.225000	0.12378	TCA	CCDC39	-	superfamily_tRNA-bd_arm		0.303	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	G	XM_291028		180381770	-1	no_errors	ENST00000442201	ensembl	human	known	70_37	nonsense	SNP	0.895	C
CCDC50	152137	genome.wustl.edu	37	3	191075842	191075842	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:191075842C>G	ENST00000392455.3	+	3	766	c.168C>G	c.(166-168)ctC>ctG	p.L56L	CCDC50_ENST00000392456.3_Silent_p.L56L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	56						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATGATCTCCAGGTGGCTA	0.502																																																	0													168.0	156.0	160.0					3																	191075842		2203	4300	6503	SO:0001819	synonymous_variant	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.168C>G	3.37:g.191075842C>G			Q86VH7	Silent	SNP	NULL	p.L56	ENST00000392455.3	37	c.168	CCDS33913.1	3																																																																																			CCDC50	-	NULL		0.502	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	C	NM_174908		191075842	+1	no_errors	ENST00000392456	ensembl	human	known	70_37	silent	SNP	0.966	G
CCDC74A	90557	genome.wustl.edu	37	2	132287646	132287646	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:132287646G>A	ENST00000295171.6	+	2	433				CCDC74A_ENST00000467992.2_Silent_p.L32L|CCDC74A_ENST00000409856.3_Intron	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A											endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGGCTCTGAGTCCTCACA	0.607																																																	0																																										SO:0001627	intron_variant	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.295+382G>A	2.37:g.132287646G>A			Q6P4I5	Silent	SNP	NULL	p.L32	ENST00000295171.6	37	c.96	CCDS2167.1	2																																																																																			CCDC74A	-	NULL		0.607	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	G	NM_138770		132287646	+1	no_errors	ENST00000467992	ensembl	human	known	70_37	silent	SNP	0.013	A
CCDC77	84318	genome.wustl.edu	37	12	527686	527686	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:527686G>C	ENST00000239830.4	+	5	476	c.297G>C	c.(295-297)caG>caC	p.Q99H	CCDC77_ENST00000422000.1_Missense_Mutation_p.Q67H|CCDC77_ENST00000412006.2_Missense_Mutation_p.Q67H|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Missense_Mutation_p.Q67H	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	99						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATTTGCAGCAGAGGGAGGAAG	0.428																																																	0													146.0	135.0	138.0					12																	527686		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.297G>C	12.37:g.527686G>C	ENSP00000239830:p.Gln99His		B4DDE8	Missense_Mutation	SNP	NULL	p.Q99H	ENST00000239830.4	37	c.297	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	g	21.4	4.137721	0.77775	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.44	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.81341	2.54	0.52501	D	0.999953	D	0.62365	0.991	P	0.60345	0.873	T	0.70033	-0.4983	10	0.72032	D	0.01	-22.0221	11.5943	0.50964	0.147:0.0:0.853:0.0	.	99	Q9BR77	CCD77_HUMAN	H	67;67;67;99;67	ENSP00000440554:Q67H;ENSP00000391870:Q67H;ENSP00000445873:Q67H;ENSP00000239830:Q99H;ENSP00000412925:Q67H	ENSP00000239830:Q99H	Q	+	3	2	CCDC77	397947	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.886000	0.63149	1.430000	0.47334	0.558000	0.71614	CAG	CCDC77	-	NULL		0.428	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		527686	+1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC78	124093	genome.wustl.edu	37	16	772971	772971	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:772971C>T	ENST00000293889.6	-	13	1353	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	416					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				AGTTGCTCTTCAGCCATCGTG	0.642																																																	0													62.0	54.0	57.0					16																	772971		2197	4297	6494	SO:0001819	synonymous_variant	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1248G>A	16.37:g.772971C>T			B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	NULL	p.L416	ENST00000293889.6	37	c.1248	CCDS32353.1	16	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481147	0.44147	.	.	ENSG00000162004	ENST00000540512	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	T	0.79953	0.4535	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83693	0.0178	7	0.87932	D	0	-2.6203	15.8892	0.79279	0.0:1.0:0.0:0.0	.	177;267	D3DU63;D3DU61	.;.	K	255	.	ENSP00000444907:E255K	E	-	1	0	CCDC78	712972	0.987000	0.35691	0.299000	0.25016	0.921000	0.55340	3.868000	0.56055	2.067000	0.61834	0.462000	0.41574	GAA	CCDC78	-	NULL		0.642	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC78	HGNC	protein_coding	OTTHUMT00000241665.3	C	NM_173476		772971	-1	no_errors	ENST00000293889	ensembl	human	known	70_37	silent	SNP	0.998	T
CCDC87	55231	genome.wustl.edu	37	11	66358231	66358231	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358231G>A	ENST00000333861.3	-	1	2323	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	752					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGTCTTTTTGAAGAAGCGGT	0.537																																																	0													118.0	126.0	123.0					11																	66358231		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2256C>T	11.37:g.66358231G>A			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.F752	ENST00000333861.3	37	c.2256	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.537	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358231	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	0.434	A
CCDC87	55231	genome.wustl.edu	37	11	66358234	66358234	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358234G>A	ENST00000333861.3	-	1	2320	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	751					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTTTTGAAGAAGCGGTTGG	0.527																																																	0													118.0	126.0	123.0					11																	66358234		2200	4295	6495	SO:0001819	synonymous_variant	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2253C>T	11.37:g.66358234G>A			Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.F751	ENST00000333861.3	37	c.2253	CCDS8145.1	11																																																																																			CCDC87	-	pfam_MAP65_Ase1_PRC1		0.527	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358234	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC87	55231	genome.wustl.edu	37	11	66358455	66358455	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358455G>T	ENST00000333861.3	-	1	2099	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCAGGCTCAGAATTTTGTGG	0.532																																																	0													50.0	49.0	49.0					11																	66358455		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2032C>A	11.37:g.66358455G>T	ENSP00000328487:p.Leu678Met		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.L678M	ENST00000333861.3	37	c.2032	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	9.274	1.046339	0.19748	.	.	ENSG00000182791	ENST00000333861	T	0.33438	1.41	4.94	2.92	0.33932	.	1.305430	0.05981	N	0.644134	T	0.35422	0.0931	L	0.56769	1.78	0.09310	N	1	P	0.50943	0.94	P	0.48030	0.564	T	0.17198	-1.0377	10	0.30078	T	0.28	.	5.1881	0.15195	0.1052:0.0:0.677:0.2179	.	678	Q9NVE4	CCD87_HUMAN	M	678	ENSP00000328487:L678M	ENSP00000328487:L678M	L	-	1	2	CCDC87	66115031	0.003000	0.15002	0.253000	0.24343	0.242000	0.25591	0.422000	0.21296	1.310000	0.45006	0.462000	0.41574	CTG	CCDC87	-	NULL		0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66358455	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.002	T
CCDC87	55231	genome.wustl.edu	37	11	66358496	66358496	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:66358496C>G	ENST00000333861.3	-	1	2058	c.1991G>C	c.(1990-1992)gGa>gCa	p.G664A	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	664					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCCCAGCTCCTAGCCTGTG	0.537																																																	0													57.0	58.0	58.0					11																	66358496		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1991G>C	11.37:g.66358496C>G	ENSP00000328487:p.Gly664Ala		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.G664A	ENST00000333861.3	37	c.1991	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	3.811	-0.039755	0.07497	.	.	ENSG00000182791	ENST00000333861	T	0.34859	1.34	4.62	-0.745	0.11098	.	1.033930	0.07728	N	0.944828	T	0.32466	0.0830	M	0.64997	1.995	0.09310	N	1	P	0.46784	0.884	B	0.38225	0.268	T	0.29610	-1.0006	10	0.59425	D	0.04	.	7.7102	0.28673	0.0:0.4818:0.0:0.5182	.	664	Q9NVE4	CCD87_HUMAN	A	664	ENSP00000328487:G664A	ENSP00000328487:G664A	G	-	2	0	CCDC87	66115072	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.118000	0.15605	-0.330000	0.08514	-1.244000	0.01528	GGA	CCDC87	-	NULL		0.537	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66358496	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC9	26093	genome.wustl.edu	37	19	47774924	47774924	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47774924G>A	ENST00000221922.6	+	12	1807	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	529							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGGCCTTTTGAGAGTGTATG	0.652																																																	0													30.0	37.0	35.0					19																	47774924		2198	4292	6490	SO:0001583	missense	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1585G>A	19.37:g.47774924G>A	ENSP00000221922:p.Glu529Lys			Missense_Mutation	SNP	NULL	p.E529K	ENST00000221922.6	37	c.1585	CCDS12698.1	19	.	.	.	.	.	.	.	.	.	.	.	16.15	3.042914	0.55003	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.22539	1.95	3.46	3.46	0.39613	.	0.840622	0.10295	N	0.691834	T	0.15478	0.0373	N	0.22421	0.69	0.25657	N	0.986043	B	0.22146	0.065	B	0.21546	0.035	T	0.11179	-1.0598	10	0.22109	T	0.4	-2.6511	12.847	0.57835	0.0:0.0:1.0:0.0	.	529	Q9Y3X0	CCDC9_HUMAN	K	529;511	ENSP00000221922:E529K	ENSP00000221922:E529K	E	+	1	0	CCDC9	52466764	0.305000	0.24481	0.419000	0.26584	0.132000	0.20833	3.018000	0.49625	2.235000	0.73313	0.297000	0.19635	GAG	CCDC9	-	NULL		0.652	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC9	HGNC	protein_coding	OTTHUMT00000466917.1	G	NM_015603		47774924	+1	no_errors	ENST00000221922	ensembl	human	known	70_37	missense	SNP	0.879	A
CCHCR1	54535	genome.wustl.edu	37	6	31125293	31125293	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31125293C>T	ENST00000376266.5	-	2	72				CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.D29N|TCF19_ENST00000376255.4_5'Flank|CCHCR1_ENST00000480060.1_Intron|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396268.3_Missense_Mutation_p.D29N	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGAAGCCCATCCAGACACCAG	0.602																																																	0													56.0	65.0	62.0					6																	31125293		1320	2590	3910	SO:0001627	intron_variant	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.51-427G>A	6.37:g.31125293C>T			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.D29N	ENST00000376266.5	37	c.85	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807594	0.50421	.	.	ENSG00000204536	ENST00000396268;ENST00000451521;ENST00000426967	T;T;T	0.32515	3.57;3.07;1.45	5.61	3.84	0.44239	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.24853	N	0.9924	B;B	0.19583	0.022;0.037	B;B	0.15052	0.005;0.012	T	0.32929	-0.9888	9	0.87932	D	0	.	8.613	0.33815	0.0:0.8247:0.0:0.1753	.	29;29	E9PE84;Q8TD31-2	.;.	N	29	ENSP00000379566:D29N;ENSP00000401039:D29N;ENSP00000402432:D29N	ENSP00000379566:D29N	D	-	1	0	CCHCR1	31233272	0.978000	0.34361	0.997000	0.53966	0.254000	0.26022	0.864000	0.27926	0.730000	0.32425	0.643000	0.83706	GAT	CCHCR1	-	NULL		0.602	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	C	NM_019052		31125293	-1	no_errors	ENST00000396268	ensembl	human	known	70_37	missense	SNP	0.903	T
CCM2	83605	genome.wustl.edu	37	7	45104112	45104112	+	Silent	SNP	C	C	T	rs146259619	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:45104112C>T	ENST00000258781.6	+	4	488	c.339C>T	c.(337-339)ctC>ctT	p.L113L	CCM2_ENST00000544363.1_Silent_p.L113L|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.L107L|CCM2_ENST00000475551.1_Silent_p.L107L|CCM2_ENST00000541586.1_Silent_p.L55L|CCM2_ENST00000381112.3_Silent_p.L134L	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGCTGTGCTCAGCCTGTCTG	0.592																																																	0								C	,,,	2,4404	4.2+/-10.8	0,2,2201	72.0	50.0	57.0		402,165,339,339	5.3	1.0	7	dbSNP_134	57	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCM2	NM_001029835.2,NM_001167934.1,NM_001167935.1,NM_031443.3	,,,	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	,,,	134/466,55/387,113/354,113/445	45104112	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.339C>T	7.37:g.45104112C>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	pfscan_PTyr_interaction_dom	p.L134	ENST00000258781.6	37	c.402	CCDS5500.1	7																																																																																			CCM2	-	pfscan_PTyr_interaction_dom		0.592	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	C	NM_031443		45104112	+1	no_errors	ENST00000381112	ensembl	human	known	70_37	silent	SNP	1.000	T
CCM2	83605	genome.wustl.edu	37	7	45104163	45104163	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:45104163C>T	ENST00000258781.6	+	4	539	c.390C>T	c.(388-390)atC>atT	p.I130I	CCM2_ENST00000544363.1_Silent_p.I130I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.I124I|CCM2_ENST00000475551.1_Silent_p.I124I|CCM2_ENST00000541586.1_Silent_p.I72I|CCM2_ENST00000381112.3_Silent_p.I151I	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	130	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGGAGGATATCATCCTCAGGG	0.607																																																	0													88.0	57.0	68.0					7																	45104163		2203	4300	6503	SO:0001819	synonymous_variant	83605			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.390C>T	7.37:g.45104163C>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	pfscan_PTyr_interaction_dom	p.I151	ENST00000258781.6	37	c.453	CCDS5500.1	7																																																																																			CCM2	-	pfscan_PTyr_interaction_dom		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	C	NM_031443		45104163	+1	no_errors	ENST00000381112	ensembl	human	known	70_37	silent	SNP	1.000	T
CCNA1	8900	genome.wustl.edu	37	13	37006087	37006087	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:37006087G>A	ENST00000255465.4	+	0	0				CCNA1_ENST00000418263.1_5'Flank|CCNA1_ENST00000449823.1_5'UTR|CCNA1_ENST00000440264.1_5'UTR|CCNA1_ENST00000463403.1_3'UTR			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACGGGTCACGGAAACAGTCCC	0.706																																																	0																																										SO:0001631	upstream_gene_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733		13.37:g.37006087G>A	Exception_encountered		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	RNA	SNP	-	NULL	ENST00000255465.4	37	NULL	CCDS9357.1	13																																																																																			CCNA1	-	-		0.706	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	G	NM_003914		37006087	+1	no_errors	ENST00000463403	ensembl	human	known	70_37	rna	SNP	0.002	A
CCNG2	901	genome.wustl.edu	37	4	78082834	78082834	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:78082834G>A	ENST00000316355.5	+	6	995	c.639G>A	c.(637-639)ttG>ttA	p.L213L	CCNG2_ENST00000354403.5_Silent_p.L213L|CCNG2_ENST00000502280.1_Silent_p.L213L|CCNG2_ENST00000395640.1_Silent_p.L213L|CCNG2_ENST00000509972.1_Silent_p.L213L|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	213					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTCAATTTGGAAGTGGAAA	0.269																																																	0													65.0	68.0	67.0					4																	78082834		2203	4299	6502	SO:0001819	synonymous_variant	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.639G>A	4.37:g.78082834G>A			B4DF25|Q6FGA7|Q6FGC6	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.L213	ENST00000316355.5	37	c.639	CCDS3581.1	4																																																																																			CCNG2	-	NULL		0.269	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	HGNC	protein_coding	OTTHUMT00000252404.3	G	NM_004354		78082834	+1	no_errors	ENST00000316355	ensembl	human	known	70_37	silent	SNP	1.000	A
CCRN4L	25819	genome.wustl.edu	37	4	139966404	139966404	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:139966404G>A	ENST00000280614.2	+	3	1265	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	358					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TGGGCAGTCAGAACCCCCATA	0.512																																					Ovarian(144;566 1842 19130 21379 22209)												0													91.0	85.0	87.0					4																	139966404		2203	4300	6503	SO:0001583	missense	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1072G>A	4.37:g.139966404G>A	ENSP00000280614:p.Glu358Lys		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E358K	ENST00000280614.2	37	c.1072	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.610818	0.96637	.	.	ENSG00000151014	ENST00000280614	T	0.31247	1.5	5.48	5.48	0.80851	Endonuclease/exonuclease/phosphatase (2);	0.050155	0.85682	D	0.000000	T	0.63414	0.2509	M	0.89353	3.025	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	T	0.69007	-0.5259	9	.	.	.	-21.2233	19.3328	0.94299	0.0:0.0:1.0:0.0	.	358	Q9UK39	NOCT_HUMAN	K	358	ENSP00000280614:E358K	.	E	+	1	0	CCRN4L	140185854	1.000000	0.71417	0.810000	0.32431	0.990000	0.78478	9.778000	0.99011	2.589000	0.87451	0.484000	0.47621	GAA	CCRN4L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.512	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	G	NM_012118		139966404	+1	no_errors	ENST00000280614	ensembl	human	known	70_37	missense	SNP	1.000	A
CCT6P3	643180	genome.wustl.edu	37	7	64526697	64526697	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:64526697G>A	ENST00000426828.1	+	0	408				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TCATTTTTTGGAAGAAGTCAA	0.408																																																	0																																												643180					7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64526697G>A				RNA	SNP	-	NULL	ENST00000426828.1	37	NULL		7																																																																																			CCT6P3	-	-		0.408	CCT6P3-004	KNOWN	basic	processed_transcript	CCT6P3	HGNC	pseudogene	OTTHUMT00000344862.1	G			64526697	+1	no_errors	ENST00000426828	ensembl	human	known	70_37	rna	SNP	1.000	A
CCT8	10694	genome.wustl.edu	37	21	30434718	30434718	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:30434718C>G	ENST00000286788.4	-	10	1233	c.1027G>C	c.(1027-1029)Gaa>Caa	p.E343Q	CCT8_ENST00000540844.1_Missense_Mutation_p.E270Q|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.E324Q|AF129075.5_ENST00000457162.2_RNA	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	343					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TGTCCCATTTCTTCAAGGACA	0.368																																																	0													113.0	93.0	99.0					21																	30434718		2203	4300	6503	SO:0001583	missense	10694			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1027G>C	21.37:g.30434718C>G	ENSP00000286788:p.Glu343Gln		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.E343Q	ENST00000286788.4	37	c.1027	CCDS33528.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.850031|4.850031	0.91277|0.91277	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844|ENST00000431234	T;T;T|.	0.79940|.	-1.32;-1.32;-1.32|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86632|0.86632	0.5979|0.5979	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.981;0.998;0.997;0.999|.	D;P;D;D;D|.	0.77004|.	0.989;0.903;0.989;0.98;0.97|.	D|D	0.88209|0.88209	0.2889|0.2889	10|5	0.72032|.	D|.	0.01|.	-29.6511|-29.6511	20.3754|20.3754	0.98918|0.98918	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	270;324;343;342;343|.	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990|.	.;.;.;.;TCPQ_HUMAN|.	Q|N	342;343;324;270|288	ENSP00000286788:E343Q;ENSP00000444984:E324Q;ENSP00000442730:E270Q|.	ENSP00000286788:E343Q|.	E|K	-|-	1|3	0|2	CCT8|CCT8	29356589|29356589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.351000|7.351000	0.79395|0.79395	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAA|AAG	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta		0.368	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	C			30434718	-1	no_errors	ENST00000286788	ensembl	human	known	70_37	missense	SNP	1.000	G
CD109	135228	genome.wustl.edu	37	6	74477947	74477947	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:74477947A>G	ENST00000287097.5	+	14	1779	c.1667A>G	c.(1666-1668)aAa>aGa	p.K556R	CD109_ENST00000437994.2_Missense_Mutation_p.K556R|CD109_ENST00000422508.2_Missense_Mutation_p.K479R			Q6YHK3	CD109_HUMAN	CD109 molecule	556					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGTTTTTAAAAATAAGGTA	0.269																																																	0													42.0	45.0	44.0					6																	74477947		2202	4297	6499	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1667A>G	6.37:g.74477947A>G	ENSP00000287097:p.Lys556Arg		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.K556R	ENST00000287097.5	37	c.1667	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247257	0.39697	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62941	-0.01;-0.01;-0.01	4.76	4.76	0.60689	Alpha-2-macroglobulin, N-terminal 2 (1);	0.583022	0.19479	N	0.113271	T	0.28599	0.0708	N	0.16602	0.42	0.27516	N	0.951534	B;B;B;B	0.23316	0.083;0.037;0.057;0.061	B;B;B;B	0.29942	0.017;0.008;0.109;0.026	T	0.10965	-1.0607	10	0.19590	T	0.45	.	13.6664	0.62398	1.0:0.0:0.0:0.0	.	479;556;556;556	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	556;479;556	ENSP00000388062:K556R;ENSP00000404475:K479R;ENSP00000287097:K556R	ENSP00000287097:K556R	K	+	2	0	CD109	74534668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.423000	0.59861	2.129000	0.65627	0.260000	0.18958	AAA	CD109	-	pfam_A2M_N_2		0.269	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	A	NM_133493		74477947	+1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	1.000	G
CD1E	913	genome.wustl.edu	37	1	158325754	158325754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:158325754C>T	ENST00000368167.3	+	4	1002	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.Q255*|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q255*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.Q253*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q165*|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000444681.2_Nonsense_Mutation_p.Q156*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q165*|CD1E_ENST00000368164.3_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q66*|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	255	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCGGGGCACTCAGCGAGGGGA	0.632																																																	0													109.0	105.0	106.0					1																	158325754		2203	4300	6503	SO:0001587	stop_gained	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.763C>T	1.37:g.158325754C>T	ENSP00000357149:p.Gln255*		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Nonsense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.Q255*	ENST00000368167.3	37	c.763	CCDS41417.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.34|15.34	2.805928|2.805928	0.50421|0.50421	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156|ENST00000368162	.|.	.|.	.|.	4.6|4.6	3.66|3.66	0.41972|0.41972	.|.	1.140210|.	0.06653|.	N|.	0.763105|.	.|T	.|0.36468	.|0.0968	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.22382	.|-1.0218	.|3	0.37606|.	T|.	0.19|.	-2.5833|-2.5833	9.6718|9.6718	0.40017|0.40017	0.2075:0.7925:0.0:0.0|0.2075:0.7925:0.0:0.0	.|.	.|.	.|.	.|.	X|L	253;156;255;66;165;66;66;255;255;165|24	.|.	ENSP00000357138:Q165X|.	Q|S	+|+	1|2	0|0	CD1E|CD1E	156592378|156592378	0.002000|0.002000	0.14202|0.14202	0.066000|0.066000	0.19879|0.19879	0.380000|0.380000	0.30137|0.30137	0.405000|0.405000	0.21015|0.21015	1.118000|1.118000	0.41863|0.41863	0.563000|0.563000	0.77884|0.77884	CAG|TCA	CD1E	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.632	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	C	NM_030893		158325754	+1	no_errors	ENST00000368167	ensembl	human	known	70_37	nonsense	SNP	0.284	T
CD2AP	23607	genome.wustl.edu	37	6	47577036	47577036	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:47577036C>G	ENST00000359314.5	+	16	2266	c.1810C>G	c.(1810-1812)Cac>Gac	p.H604D	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	604					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.H604Y(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GAAAAAGGATCACGGGTAAGT	0.363																																																	1	Substitution - Missense(1)	lung(1)											87.0	85.0	86.0					6																	47577036		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1810C>G	6.37:g.47577036C>G	ENSP00000352264:p.His604Asp		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.H604D	ENST00000359314.5	37	c.1810	CCDS34472.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078680	0.76528	.	.	ENSG00000198087	ENST00000359314	T	0.28255	1.62	5.65	5.65	0.86999	.	0.257695	0.32175	N	0.006462	T	0.43765	0.1262	M	0.73962	2.25	0.46185	D	0.998914	D	0.63046	0.992	P	0.55871	0.786	T	0.38824	-0.9643	10	0.56958	D	0.05	-16.2893	18.2957	0.90145	0.0:1.0:0.0:0.0	.	604	Q9Y5K6	CD2AP_HUMAN	D	604	ENSP00000352264:H604D	ENSP00000352264:H604D	H	+	1	0	CD2AP	47684995	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.872000	0.63050	2.668000	0.90789	0.655000	0.94253	CAC	CD2AP	-	NULL		0.363	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	C			47577036	+1	no_errors	ENST00000359314	ensembl	human	known	70_37	missense	SNP	1.000	G
CD44	960	genome.wustl.edu	37	11	35227665	35227665	+	Missense_Mutation	SNP	C	C	T	rs371026548		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:35227665C>T	ENST00000428726.2	+	11	1412	c.1289C>T	c.(1288-1290)tCa>tTa	p.S430L	CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S430L|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S387L|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S387L|CD44_ENST00000433354.2_Missense_Mutation_p.S431L|CD44_ENST00000278386.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	430	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	ACAGCAGCCTCAGCTCATACC	0.453																																																	0								C	LEU/SER,LEU/SER,,,,,,	1,4403	2.1+/-5.4	0,1,2201	162.0	123.0	136.0		1289,1160,,,,,,	4.0	0.2	11		136	0,8596		0,0,4298	no	missense,missense,intron,intron,intron,intron,intron,intron	CD44	NM_000610.3,NM_001001389.1,NM_001001390.1,NM_001001391.1,NM_001001392.1,NM_001202555.1,NM_001202556.1,NM_001202557.1	145,145,,,,,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,,,,,	430/743,387/700,,,,,,	35227665	1,12999	2202	4298	6500	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1289C>T	11.37:g.35227665C>T	ENSP00000398632:p.Ser430Leu		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.S430L	ENST00000428726.2	37	c.1289	CCDS7897.1	11	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035161	0.35893	2.27E-4	0.0	ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525211;ENST00000531110	T;T;T;T;T;T;T	0.20463	2.21;2.21;2.21;2.21;2.21;2.07;2.21	4.87	3.95	0.45737	.	0.641922	0.13911	N	0.354275	T	0.24160	0.0585	M	0.62723	1.935	0.22947	N	0.998524	P;B	0.36909	0.573;0.437	B;B	0.36244	0.22;0.154	T	0.11494	-1.0585	10	0.56958	D	0.05	-7.1208	11.2771	0.49174	0.0:0.8158:0.1842:0.0	.	387;430	P16070-4;P16070	.;CD44_HUMAN	L	387;431;387;430;430;204;142	ENSP00000389830:S387L;ENSP00000414567:S431L;ENSP00000391008:S387L;ENSP00000403990:S430L;ENSP00000398632:S430L;ENSP00000432405:S204L;ENSP00000436549:S142L	ENSP00000389830:S387L	S	+	2	0	CD44	35184241	0.017000	0.18338	0.201000	0.23476	0.010000	0.07245	1.949000	0.40313	1.389000	0.46526	-0.175000	0.13238	TCA	CD44	-	NULL		0.453	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	C	NM_000610		35227665	+1	no_errors	ENST00000428726	ensembl	human	known	70_37	missense	SNP	0.117	T
CD46	4179	genome.wustl.edu	37	1	207933081	207933081	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:207933081C>G	ENST00000358170.2	+	4	631				CD46_ENST00000360212.2_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000357714.1_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000367042.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAAGTAAATTCTTTTTTTTTA	0.313																																																	0													24.0	25.0	24.0					1																	207933081		2196	4285	6481	SO:0001627	intron_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.475+12C>G	1.37:g.207933081C>G			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	RNA	SNP	-	NULL	ENST00000358170.2	37	NULL	CCDS1485.1	1																																																																																			CD46	-	-		0.313	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	C	NM_172361		207933081	+1	no_errors	ENST00000469535	ensembl	human	known	70_37	rna	SNP	0.008	G
CD8A	925	genome.wustl.edu	37	2	87016516	87016516	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:87016516G>A	ENST00000409511.2	-	7	1585	c.555C>T	c.(553-555)atC>atT	p.I185I	CD8A_ENST00000538832.1_Silent_p.I226I|CD8A_ENST00000283635.3_Silent_p.I185I|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000409781.1_Silent_p.I148I	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	185					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGGGCGCCCAGATGTAGATAT	0.607																																																	0													82.0	85.0	84.0					2																	87016516		2203	4300	6503	SO:0001819	synonymous_variant	925				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.555C>T	2.37:g.87016516G>A			B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I226	ENST00000409511.2	37	c.678	CCDS1992.1	2																																																																																			CD8A	-	NULL		0.607	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	G	NM_001768		87016516	-1	no_errors	ENST00000538832	ensembl	human	known	70_37	silent	SNP	1.000	A
CD97	976	genome.wustl.edu	37	19	14517945	14517945	+	Silent	SNP	C	C	T	rs373515389		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:14517945C>T	ENST00000242786.5	+	18	2360	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	CD97_ENST00000358600.3_Silent_p.F667F|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.F711F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	760					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						TGTTCATCTTCGACGATCGGA	0.612																																																	0													164.0	124.0	138.0					19																	14517945		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.2280C>T	19.37:g.14517945C>T			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.F760	ENST00000242786.5	37	c.2280	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.612	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517945	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.008	T
CDC42BPG	55561	genome.wustl.edu	37	11	64594791	64594791	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64594791G>T	ENST00000342711.5	-	33	4229	c.4230C>A	c.(4228-4230)ttC>ttA	p.F1410L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGCGGAAAAAGAAGCGGCGCT	0.667																																																	0													70.0	79.0	76.0					11																	64594791		2201	4297	6498	SO:0001583	missense	55561			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4230C>A	11.37:g.64594791G>T	ENSP00000345133:p.Phe1410Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.F1410L	ENST00000342711.5	37	c.4230	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211084	0.58343	.	.	ENSG00000171219	ENST00000342711	T	0.74421	-0.84	4.82	-0.511	0.11970	.	0.306973	0.23971	N	0.042778	T	0.65678	0.2714	M	0.73598	2.24	0.35444	D	0.795164	P	0.35745	0.518	B	0.31390	0.129	T	0.64863	-0.6307	10	0.87932	D	0	.	5.3264	0.15908	0.4232:0.1437:0.433:0.0	.	1410	Q6DT37	MRCKG_HUMAN	L	1410	ENSP00000345133:F1410L	ENSP00000345133:F1410L	F	-	3	2	CDC42BPG	64351367	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	0.904000	0.28491	-0.040000	0.13580	-0.254000	0.11334	TTC	CDC42BPG	-	NULL		0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	G	XM_290516		64594791	-1	no_errors	ENST00000342711	ensembl	human	known	70_37	missense	SNP	0.987	T
CDCA3	83461	genome.wustl.edu	37	12	6958094	6958094	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6958094G>A	ENST00000538862.2	-	0	1821				CDCA3_ENST00000540683.1_3'UTR|CDCA3_ENST00000535406.1_3'UTR|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000229265.6_3'UTR|CDCA3_ENST00000604599.1_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3						mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTGGTAGCTGAGGAGGAGTC	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	83461			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.*113C>T	12.37:g.6958094G>A			A8K5V6|D3DUS6	RNA	SNP	-	NULL	ENST00000538862.2	37	NULL	CCDS8565.1	12																																																																																			CDCA3	-	-		0.428	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	HGNC	protein_coding	OTTHUMT00000401940.2	G	NM_031299		6958094	-1	no_errors	ENST00000544610	ensembl	human	putative	70_37	rna	SNP	0.000	A
CDH18	1016	genome.wustl.edu	37	5	19473351	19473351	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:19473351G>A	ENST00000507958.1	-	15	3347	c.2357C>T	c.(2356-2358)tCt>tTt	p.S786F	CDH18_ENST00000274170.4_Missense_Mutation_p.S786F|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.S786F			Q13634	CAD18_HUMAN	cadherin 18, type 2	786					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTTCTTTCAGATTCTATTTC	0.433																																																	0													82.0	86.0	85.0					5																	19473351		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2357C>T	5.37:g.19473351G>A	ENSP00000425093:p.Ser786Phe		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S786F	ENST00000507958.1	37	c.2357	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835651	0.71373	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.59638	0.25;0.25;0.25	5.21	5.21	0.72293	.	0.280944	0.35805	N	0.002980	T	0.61299	0.2336	M	0.76938	2.355	0.43133	D	0.994872	B	0.29805	0.257	B	0.30401	0.115	T	0.61093	-0.7132	9	.	.	.	.	17.6979	0.88286	0.0:0.0:1.0:0.0	.	786	Q13634	CAD18_HUMAN	F	786	ENSP00000371710:S786F;ENSP00000425093:S786F;ENSP00000274170:S786F	.	S	-	2	0	CDH18	19509108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	2.600000	0.87896	0.655000	0.94253	TCT	CDH18	-	NULL		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	G	NM_004934		19473351	-1	no_errors	ENST00000274170	ensembl	human	known	70_37	missense	SNP	1.000	A
CDHR2	54825	genome.wustl.edu	37	5	176017146	176017146	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:176017146C>T	ENST00000510636.1	+	25	3548	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W	CDHR2_ENST00000506348.1_Splice_Site_p.R1092W|CDHR2_ENST00000261944.5_Splice_Site_p.R1092W	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1092					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTCTGCAGCTCGGTGAGTGCC	0.587																																																	0													145.0	163.0	157.0					5																	176017146		2203	4300	6503	SO:0001630	splice_region_variant	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3275+1C>T	5.37:g.176017146C>T			A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1092W	ENST00000510636.1	37	c.3274	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280018	0.40294	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.58940	0.3;0.3;0.3	4.47	0.927	0.19437	.	.	.	.	.	T	0.71333	0.3327	M	0.76574	2.34	0.22266	N	0.999241	D	0.89917	1.0	D	0.81914	0.995	T	0.58482	-0.7629	9	0.87932	D	0	-24.521	8.1544	0.31160	0.4951:0.3901:0.1148:0.0	.	1092	Q9BYE9	CDHR2_HUMAN	W	1092	ENSP00000424565:R1092W;ENSP00000261944:R1092W;ENSP00000421078:R1092W	ENSP00000261944:R1092W	R	+	1	2	CDHR2	175949752	0.045000	0.20229	0.592000	0.28758	0.463000	0.32649	0.453000	0.21811	0.268000	0.21939	0.537000	0.68136	CGG	CDHR2	-	NULL		0.587	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675	Missense_Mutation	176017146	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	0.073	T
CDK11B	984	genome.wustl.edu	37	1	1588857	1588857	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1588857C>G	ENST00000407249.3	-	1	78	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	CDK11B_ENST00000340677.5_Missense_Mutation_p.E27Q|CDK11B_ENST00000317673.7_Missense_Mutation_p.E27Q|CDK11B_ENST00000341832.6_5'Flank|RP11-345P4.10_ENST00000607013.1_RNA			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	27					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCTTTCTCCTCTTGTTCCTTC	0.323																																																	0													47.0	45.0	46.0					1																	1588857		1779	4042	5821	SO:0001583	missense	984			AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.79G>C	1.37:g.1588857C>G	ENSP00000464036:p.Glu27Gln		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E27Q	ENST00000407249.3	37	c.79		1																																																																																			CDK11B	-	NULL		0.323	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	CDK11B	HGNC	protein_coding		C	NM_001787		1588857	-1	no_errors	ENST00000407249	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK13	8621	genome.wustl.edu	37	7	40038973	40038973	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:40038973C>T	ENST00000181839.4	+	4	2661	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R686C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	686					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATGTGGGCCTCGCTATGGTGA	0.348																																																	0													74.0	79.0	78.0					7																	40038973		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2056C>T	7.37:g.40038973C>T	ENSP00000181839:p.Arg686Cys		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R686C	ENST00000181839.4	37	c.2056	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279355	0.80692	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.74632	-0.86;-0.78	5.43	5.43	0.79202	.	.	.	.	.	D	0.85465	0.5703	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.88;0.998;0.997	D	0.84533	0.0634	8	.	.	.	-6.7869	19.2537	0.93935	0.0:1.0:0.0:0.0	.	72;686;686	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	C	686	ENSP00000181839:R686C;ENSP00000340557:R686C	.	R	+	1	0	CDK13	40005498	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.153000	0.71819	2.552000	0.86080	0.643000	0.83706	CGC	CDK13	-	NULL		0.348	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40038973	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	1.000	T
CDK20	23552	genome.wustl.edu	37	9	90589419	90589419	+	5'UTR	SNP	C	C	G	rs12376326|rs544096048		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:90589419C>G	ENST00000325303.8	-	0	248				CDK20_ENST00000375883.3_5'UTR|CDK20_ENST00000375871.4_5'Flank|CDK20_ENST00000605159.1_5'UTR|CDK20_ENST00000336654.5_5'UTR	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						CTCCACTTCTCCTCCACCCCA	0.657																																																	0													17.0	20.0	19.0					9																	90589419		692	1591	2283	SO:0001623	5_prime_UTR_variant	23552			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.-58G>C	9.37:g.90589419C>G			A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	RNA	SNP	-	NULL	ENST00000325303.8	37	NULL	CCDS35060.1	9																																																																																			CDK20	-	-		0.657	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK20	HGNC	protein_coding	OTTHUMT00000214996.1	C	NM_012119		90589419	-1	no_errors	ENST00000459720	ensembl	human	known	70_37	rna	SNP	0.002	G
CDK5R2	8941	genome.wustl.edu	37	2	219825154	219825154	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219825154G>C	ENST00000302625.4	+	1	778	c.612G>C	c.(610-612)ctG>ctC	p.L204L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	204					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGAGCTGAGCCCGGGCG	0.692																																																	0													24.0	25.0	25.0					2																	219825154		2201	4297	6498	SO:0001819	synonymous_variant	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.612G>C	2.37:g.219825154G>C			Q4ZFW6	Silent	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L204	ENST00000302625.4	37	c.612	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator		0.692	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1	G	NM_003936		219825154	+1	no_errors	ENST00000302625	ensembl	human	known	70_37	silent	SNP	1.000	C
CDK5RAP2	55755	genome.wustl.edu	37	9	123253644	123253644	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123253644G>C	ENST00000349780.4	-	13	1602	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q475E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q475E|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q475E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	475					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACTTGCTCTTGATTGTGCAAT	0.333																																																	0													206.0	183.0	191.0					9																	123253644		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1423C>G	9.37:g.123253644G>C	ENSP00000343818:p.Gln475Glu		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.Q475E	ENST00000349780.4	37	c.1423	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	8.996	0.979030	0.18812	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.76	4.85	0.62838	.	0.326007	0.26522	N	0.023909	T	0.42359	0.1199	M	0.62723	1.935	0.23003	N	0.998444	B;B;P;B	0.39601	0.176;0.176;0.68;0.11	B;B;B;B	0.42030	0.037;0.037;0.373;0.016	T	0.36696	-0.9737	10	0.08599	T	0.76	.	15.0866	0.72158	0.0:0.1413:0.8587:0.0	.	276;475;475;475	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	E	475;475;475;475;477	ENSP00000354065:Q475E;ENSP00000352258:Q475E;ENSP00000343818:Q475E;ENSP00000353317:Q475E	ENSP00000341695:Q477E	Q	-	1	0	CDK5RAP2	122293465	1.000000	0.71417	0.032000	0.17829	0.068000	0.16541	3.418000	0.52721	1.411000	0.46957	0.650000	0.86243	CAA	CDK5RAP2	-	NULL		0.333	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	G	NM_018249		123253644	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.639	C
CDK8	1024	genome.wustl.edu	37	13	26974624	26974624	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:26974624G>A	ENST00000381527.3	+	10	1471	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAATAAAGCGAATTACCTCA	0.428																																																	0													215.0	199.0	205.0					13																	26974624		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.968G>A	13.37:g.26974624G>A	ENSP00000370938:p.Arg323Gln		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R323Q	ENST00000381527.3	37	c.968	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.895298	0.97074	.	.	ENSG00000132964	ENST00000381527	T	0.74632	-0.86	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94753	0.7929	10	0.87932	D	0	-7.1016	20.0479	0.97616	0.0:0.0:1.0:0.0	.	323;323	P49336-2;P49336	.;CDK8_HUMAN	Q	323	ENSP00000370938:R323Q	ENSP00000370938:R323Q	R	+	2	0	CDK8	25872624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.750000	0.94351	0.650000	0.86243	CGA	CDK8	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.428	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	G			26974624	+1	no_errors	ENST00000381527	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA14	51182	genome.wustl.edu	37	10	14879934	14879934	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:14879934C>T	ENST00000378372.3	+	0	0				CDNF_ENST00000378441.2_5'Flank|CDNF_ENST00000378442.1_Intron|HSPA14_ENST00000437161.2_5'Flank	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAACTGGGCTCGCGCACCACA	0.682																																																	0													19.0	23.0	22.0					10																	14879934		2187	4289	6476	SO:0001631	upstream_gene_variant	441549			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712		10.37:g.14879934C>T	Exception_encountered		A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	pfam_Armet_prot	p.A4	ENST00000378372.3	37	c.12	CCDS7103.1	10																																																																																			CDNF	-	NULL		0.682	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDNF	HGNC	protein_coding	OTTHUMT00000046910.1	C	NM_016299		14879934	-1	no_errors	ENST00000465530	ensembl	human	known	70_37	silent	SNP	0.000	T
CEBPZ	10153	genome.wustl.edu	37	2	37458672	37458672	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:37458672C>T	ENST00000234170.5	-	1	184	c.39G>A	c.(37-39)aaG>aaA	p.K13K	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	13					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GCCAAGGCCGCTTGGCATGGA	0.572																																																	0													51.0	57.0	55.0					2																	37458672		2203	4300	6503	SO:0001819	synonymous_variant	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.39G>A	2.37:g.37458672C>T			Q8NE75	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.K13	ENST00000234170.5	37	c.39	CCDS1787.1	2																																																																																			CEBPZ	-	NULL		0.572	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	C	NM_005760		37458672	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	silent	SNP	0.597	T
CENPK	64105	genome.wustl.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	rs147863579		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	109.0	109.0		743	4.0	1.0	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CENPK	NM_022145.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	248/270	64814369	2,13004	2203	4300	6503	SO:0001583	missense	64105			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.743G>A	5.37:g.64814369C>T	ENSP00000379911:p.Arg248His		Q9H4L0	Missense_Mutation	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.R248H	ENST00000396679.1	37	c.743	CCDS3984.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582695	0.86748	2.27E-4	1.16E-4	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	3.98	0.46160	.	0.054076	0.64402	D	0.000001	T	0.51432	0.1674	M	0.65498	2.005	0.50171	D	0.999855	P	0.37276	0.589	B	0.30105	0.111	T	0.54636	-0.8264	9	0.72032	D	0.01	-1.8585	11.2414	0.48972	0.1276:0.8065:0.0:0.0659	.	248	Q9BS16	CENPK_HUMAN	H	248;248;248;218;185	.	ENSP00000242872:R248H	R	-	2	0	CENPK	64850125	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	6.220000	0.72237	0.773000	0.33404	0.557000	0.71058	CGT	CENPK	-	pfam_Centromere_CenpK		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	C	NM_022145		64814369	-1	no_errors	ENST00000242872	ensembl	human	known	70_37	missense	SNP	1.000	T
CEP164	22897	genome.wustl.edu	37	11	117265684	117265684	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:117265684G>C	ENST00000278935.3	+	22	2956	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	937	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CAGAGCTAAAGATGTCAAGGC	0.507																																																	0													151.0	153.0	152.0					11																	117265684		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2809G>C	11.37:g.117265684G>C	ENSP00000278935:p.Asp937His		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.D937H	ENST00000278935.3	37	c.2809	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208573	0.58343	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.45276	0.9	4.63	4.63	0.57726	.	0.309813	0.23187	N	0.050947	T	0.57359	0.2048	M	0.67953	2.075	0.22266	N	0.999247	D;D;D;B	0.89917	0.999;1.0;0.982;0.206	D;D;P;B	0.87578	0.995;0.998;0.891;0.124	T	0.51616	-0.8683	10	0.72032	D	0.01	-8.6206	6.2078	0.20612	0.1067:0.192:0.7013:0.0	.	911;711;937;940	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	H	937;911;818	ENSP00000278935:D937H	ENSP00000278935:D937H	D	+	1	0	CEP164	116770894	0.982000	0.34865	0.997000	0.53966	0.786000	0.44442	2.508000	0.45450	2.118000	0.64928	0.467000	0.42956	GAT	CEP164	-	NULL		0.507	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117265684	+1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	0.803	C
CEP70	80321	genome.wustl.edu	37	3	138256057	138256057	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:138256057G>A	ENST00000264982.3	-	7	864	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	CEP70_ENST00000484888.1_Silent_p.L200L|CEP70_ENST00000542237.1_Silent_p.L180L|CEP70_ENST00000489254.1_Silent_p.L48L|CEP70_ENST00000464035.1_Silent_p.L200L|CEP70_ENST00000481834.1_Silent_p.L200L|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	200					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTTTGCACAGATAGGCAAAC	0.353																																																	0													184.0	157.0	166.0					3																	138256057		2203	4300	6503	SO:0001819	synonymous_variant	80321			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.598C>T	3.37:g.138256057G>A			B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L200	ENST00000264982.3	37	c.598	CCDS3102.1	3																																																																																			CEP70	-	NULL		0.353	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	G	NM_024491		138256057	-1	no_errors	ENST00000264982	ensembl	human	known	70_37	silent	SNP	0.986	A
CEP95	90799	genome.wustl.edu	37	17	62510458	62510458	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:62510458G>A	ENST00000556440.2	+	4	859	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	CEP95_ENST00000581056.1_Missense_Mutation_p.E117K|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	117						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ACGCATCAGTGAAACATCTCA	0.323																																																	0													44.0	40.0	42.0					17																	62510458		1757	3931	5688	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.349G>A	17.37:g.62510458G>A	ENSP00000450461:p.Glu117Lys		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.E117K	ENST00000556440.2	37	c.349	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828809	0.50845	.	.	ENSG00000258890	ENST00000556440	T	0.34275	1.37	5.57	5.57	0.84162	.	0.151082	0.56097	D	0.000021	T	0.61274	0.2334	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59123	-0.7513	10	0.51188	T	0.08	-23.6021	19.8968	0.96969	0.0:0.0:1.0:0.0	.	117	Q96GE4	CEP95_HUMAN	K	117	ENSP00000450461:E117K	ENSP00000437744:E117K	E	+	1	0	CEP95	59940920	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	8.695000	0.91298	2.779000	0.95612	0.591000	0.81541	GAA	CEP95	-	NULL		0.323	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62510458	+1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	1.000	A
CERCAM	51148	genome.wustl.edu	37	9	131196417	131196417	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:131196417G>A	ENST00000372838.4	+	10	1638	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	CERCAM_ENST00000372842.1_Missense_Mutation_p.E336K|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	414					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTGGTGTTTGAGGATGACGT	0.607																																																	0													63.0	62.0	62.0					9																	131196417		2203	4300	6503	SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1240G>A	9.37:g.131196417G>A	ENSP00000361929:p.Glu414Lys		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.E414K	ENST00000372838.4	37	c.1240	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	G	37	6.354729	0.97498	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.98264	-4.62;-4.83	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	-11.1865	18.4778	0.90799	0.0:0.0:1.0:0.0	.	414	Q5T4B2	GT253_HUMAN	K	336;414;367	ENSP00000361933:E336K;ENSP00000361929:E414K	ENSP00000361929:E414K	E	+	1	0	CERCAM	130236238	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.721000	0.98766	2.700000	0.92200	0.655000	0.94253	GAG	CERCAM	-	pfam_Glyco_trans_25		0.607	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	G	NM_016174		131196417	+1	no_errors	ENST00000372838	ensembl	human	known	70_37	missense	SNP	1.000	A
CES1	1066	genome.wustl.edu	37	16	55844484	55844484	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:55844484C>G	ENST00000361503.4	-	11	1390	c.1260G>C	c.(1258-1260)ttG>ttC	p.L420F	CES1_ENST00000422046.2_Missense_Mutation_p.L419F|CES1_ENST00000360526.3_Missense_Mutation_p.L421F			P23141	EST1_HUMAN	carboxylesterase 1	420					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CATCTGCTATCAAGTCCAGGA	0.493																																					NSCLC(162;1801 2756 42904 52896)												0													206.0	211.0	209.0					16																	55844484		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1260G>C	16.37:g.55844484C>G	ENSP00000355193:p.Leu420Phe		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L421F	ENST00000361503.4	37	c.1263	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451786	0.26074	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70869	3.08;3.08;-0.52	4.69	2.74	0.32292	Carboxylesterase, type B (1);	0.666605	0.13806	N	0.361476	T	0.62060	0.2397	L	0.41573	1.285	0.09310	N	0.999996	B;B;B	0.33748	0.301;0.301;0.423	B;B;B	0.38156	0.266;0.266;0.242	T	0.53201	-0.8472	10	0.46703	T	0.11	.	7.369	0.26790	0.0:0.7956:0.0:0.2044	.	419;420;421	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	421;420;419;285	ENSP00000353720:L421F;ENSP00000355193:L420F;ENSP00000390492:L419F	ENSP00000353720:L421F	L	-	3	2	CES1	54401985	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.139000	0.10358	0.443000	0.26582	-0.365000	0.07479	TTG	CES1	-	pfam_CarbesteraseB		0.493	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	C	NM_001266		55844484	-1	no_errors	ENST00000360526	ensembl	human	known	70_37	missense	SNP	0.013	G
CHD4	1108	genome.wustl.edu	37	12	6687669	6687669	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6687669C>T	ENST00000357008.2	-	35	5188	c.5025G>A	c.(5023-5025)caG>caA	p.Q1675Q	CHD4_ENST00000309577.6_Silent_p.Q1703Q|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544484.1_Silent_p.Q1700Q|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.Q1668Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1675	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTCTCCATTCTGAAGCATCA	0.418																																					Colon(32;586 792 4568 16848 45314)												0													90.0	89.0	89.0					12																	6687669		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5025G>A	12.37:g.6687669C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1703	ENST00000357008.2	37	c.5109	CCDS8552.1	12																																																																																			CHD4	-	NULL		0.418	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687669	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	T
CHD4	1108	genome.wustl.edu	37	12	6687678	6687678	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6687678C>T	ENST00000357008.2	-	35	5179	c.5016G>A	c.(5014-5016)gtG>gtA	p.V1672V	CHD4_ENST00000309577.6_Silent_p.V1700V|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.V1697V|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Silent_p.V1665V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1672	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTGAAGCATCACCTCTTTTT	0.413																																					Colon(32;586 792 4568 16848 45314)												0													83.0	82.0	82.0					12																	6687678		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5016G>A	12.37:g.6687678C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1700	ENST00000357008.2	37	c.5100	CCDS8552.1	12																																																																																			CHD4	-	NULL		0.413	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6687678	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	0.980	T
CHD5	26038	genome.wustl.edu	37	1	6169958	6169958	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:6169958G>C	ENST00000262450.3	-	38	5574	c.5475C>G	c.(5473-5475)ctC>ctG	p.L1825L	CHD5_ENST00000378021.1_Silent_p.L682L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCGGGCGTTGAGGGCCATGG	0.662																																																	0													56.0	62.0	60.0					1																	6169958		2203	4299	6502	SO:0001819	synonymous_variant	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5475C>G	1.37:g.6169958G>C			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1825	ENST00000262450.3	37	c.5475	CCDS57.1	1																																																																																			CHD5	-	pfam_CHD_C2		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	G	NM_015557		6169958	-1	no_errors	ENST00000262450	ensembl	human	known	70_37	silent	SNP	1.000	C
CHD6	84181	genome.wustl.edu	37	20	40111954	40111954	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:40111954C>T	ENST00000373233.3	-	16	2640	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	821	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCACCTTCTCTGGATGAGGT	0.408																																																	0													78.0	69.0	72.0					20																	40111954		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2463G>A	20.37:g.40111954C>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q821	ENST00000373233.3	37	c.2463	CCDS13317.1	20																																																																																			CHD6	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40111954	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53283964	53283964	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:53283964C>G	ENST00000398510.3	+	16	3934	c.3847C>G	c.(3847-3849)Cag>Gag	p.Q1283E	CHD9_ENST00000564845.1_Missense_Mutation_p.Q1283E|Y_RNA_ENST00000391280.1_RNA|CHD9_ENST00000566029.1_Missense_Mutation_p.Q1283E|CHD9_ENST00000447540.1_Missense_Mutation_p.Q1283E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGGAATCCTCAGAATGATCT	0.323																																																	0													76.0	72.0	73.0					16																	53283964		1824	4074	5898	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3847C>G	16.37:g.53283964C>G	ENSP00000381522:p.Gln1283Glu		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1283E	ENST00000398510.3	37	c.3847		16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689914	0.88735	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.74002	-0.8;-0.8	5.59	5.59	0.84812	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000020	D	0.91112	0.7202	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.69078	0.979;0.997;0.985;0.982	D;D;D;D	0.73708	0.92;0.96;0.981;0.968	D	0.93240	0.6625	10	0.87932	D	0	-15.4585	19.956	0.97218	0.0:1.0:0.0:0.0	.	809;1283;1283;1283	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	E	1283;1283;809	ENSP00000396345:Q1283E;ENSP00000381522:Q1283E	ENSP00000219084:Q809E	Q	+	1	0	CHD9	51841465	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.729000	0.84864	2.788000	0.95919	0.557000	0.71058	CAG	CHD9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.323	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	C	NM_025134		53283964	+1	no_errors	ENST00000398510	ensembl	human	known	70_37	missense	SNP	1.000	G
CHIAP2	149620	genome.wustl.edu	37	1	111822697	111822697	+	RNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:111822697C>G	ENST00000369743.4	+	0	17					NR_003928.1				chitinase, acidic pseudogene 2																		CAAGCTCACCCTTCTCACTGG	0.438																																																	0																																												149620					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111822697C>G				RNA	SNP	-	NULL	ENST00000369743.4	37	NULL		1																																																																																			CHIAP2	-	-		0.438	CHIAP2-001	KNOWN	basic	processed_transcript	CHIAP2	HGNC	pseudogene	OTTHUMT00000033667.3	C			111822697	+1	no_errors	ENST00000369743	ensembl	human	known	70_37	rna	SNP	0.685	G
CHIAP2	149620	genome.wustl.edu	37	1	111828615	111828615	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:111828615G>A	ENST00000369743.4	+	0	2714					NR_003928.1				chitinase, acidic pseudogene 2																		ACTCAGCACTGCCAGCCTGGT	0.502																																																	0																																												149620					1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111828615G>A				RNA	SNP	-	NULL	ENST00000369743.4	37	NULL		1																																																																																			CHIAP2	-	-		0.502	CHIAP2-001	KNOWN	basic	processed_transcript	CHIAP2	HGNC	pseudogene	OTTHUMT00000033667.3	G			111828615	+1	no_errors	ENST00000369743	ensembl	human	known	70_37	rna	SNP	0.981	A
CHL1	10752	genome.wustl.edu	37	3	369956	369956	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:369956C>T	ENST00000256509.2	+	5	946	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H102Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCACATATCTCACTTTCAAGG	0.403																																																	0													128.0	127.0	127.0					3																	369956		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.304C>T	3.37:g.369956C>T	ENSP00000256509:p.His102Tyr		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H102Y	ENST00000256509.2	37	c.304	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894994	0.72639	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.66995	1.11;1.11;-0.24	5.02	4.09	0.47781	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188254	0.47093	D	0.000241	T	0.67896	0.2942	L	0.49455	1.56	0.28960	N	0.889899	P;P;P	0.49696	0.859;0.859;0.927	P;P;P	0.54026	0.74;0.74;0.561	T	0.65158	-0.6236	10	0.72032	D	0.01	.	7.6626	0.28413	0.2377:0.6159:0.1464:0.0	.	102;102;102	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Y	102	ENSP00000256509:H102Y;ENSP00000380628:H102Y;ENSP00000397445:H102Y	ENSP00000256509:H102Y	H	+	1	0	CHL1	344956	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.573000	0.53856	2.329000	0.79093	0.655000	0.94253	CAC	CHL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.403	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		369956	+1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	0.970	T
CHL1	10752	genome.wustl.edu	37	3	384667	384667	+	Splice_Site	SNP	T	T	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:384667T>G	ENST00000256509.2	+	8	1322	c.680T>G	c.(679-681)tTa>tGa	p.L227*	CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTATTTCAGTAAAGCATGCT	0.333																																																	0													178.0	164.0	169.0					3																	384667		2203	4300	6503	SO:0001630	splice_region_variant	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.680-1T>G	3.37:g.384667T>G			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L227*	ENST00000256509.2	37	c.680	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	T	43	10.250940	0.99368	.	.	ENSG00000134121	ENST00000256509	.	.	.	5.32	5.32	0.75619	.	0.559818	0.17588	N	0.168869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.446	0.38697	0.0:0.0804:0.0:0.9196	.	.	.	.	X	227	.	.	L	+	2	0	CHL1	359667	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.454000	0.44979	2.130000	0.65690	0.533000	0.62120	TTA	CHL1	-	NULL		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	T	NM_006614	Nonsense_Mutation	384667	+1	no_errors	ENST00000256509	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CHMP6	79643	genome.wustl.edu	37	17	78972194	78972194	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78972194C>T	ENST00000325167.5	+	7	602	c.524C>T	c.(523-525)tCc>tTc	p.S175F	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	175	Interaction with VPS4A.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGTTCCCTCCGAGCCCCTT	0.522																																																	0													108.0	109.0	109.0					17																	78972194		2203	4300	6503	SO:0001583	missense	79643			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.524C>T	17.37:g.78972194C>T	ENSP00000317468:p.Ser175Phe		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	pfam_Snf7	p.S175F	ENST00000325167.5	37	c.524	CCDS11774.1	17	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201773	0.58234	.	.	ENSG00000176108	ENST00000325167	T	0.75367	-0.93	4.57	3.59	0.41128	.	0.493155	0.19597	N	0.110474	T	0.80166	0.4573	M	0.83012	2.62	0.26874	N	0.967694	P	0.37612	0.602	P	0.45377	0.478	T	0.75750	-0.3208	10	0.72032	D	0.01	-24.4707	11.9604	0.53005	0.0:0.9149:0.0:0.0851	.	175	Q96FZ7	CHMP6_HUMAN	F	175	ENSP00000317468:S175F	ENSP00000317468:S175F	S	+	2	0	CHMP6	76586789	0.035000	0.19736	0.089000	0.20774	0.944000	0.59088	3.289000	0.51747	2.070000	0.61991	0.491000	0.48974	TCC	CHMP6	-	pfam_Snf7		0.522	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP6	HGNC	protein_coding	OTTHUMT00000438215.1	C	NM_024591		78972194	+1	no_errors	ENST00000325167	ensembl	human	known	70_37	missense	SNP	0.113	T
CHRM2	1129	genome.wustl.edu	37	7	136700266	136700266	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:136700266G>C	ENST00000445907.2	+	3	1182	c.654G>C	c.(652-654)aaG>aaC	p.K218N	hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.K218N|CHRM2_ENST00000397608.3_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.K218N|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.K218N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	218					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCAGGATAAAGAAGGACAAGA	0.483																																																	0													50.0	45.0	47.0					7																	136700266		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.654G>C	7.37:g.136700266G>C	ENSP00000399745:p.Lys218Asn		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.K218N	ENST00000445907.2	37	c.654	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345041	0.61073	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.443345	0.25238	N	0.032114	T	0.51873	0.1700	M	0.72479	2.2	0.58432	D	0.999993	P	0.52170	0.951	P	0.50754	0.649	T	0.57266	-0.7841	10	0.66056	D	0.02	-1.1811	12.6364	0.56685	0.1105:0.0:0.8895:0.0	.	218	P08172	ACM2_HUMAN	N	218	ENSP00000399745:K218N;ENSP00000415386:K218N;ENSP00000319984:K218N;ENSP00000380733:K218N;ENSP00000384937:K218N;ENSP00000384401:K218N	ENSP00000319984:K218N	K	+	3	2	CHRM2	136350806	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.025000	0.57225	2.541000	0.85698	0.655000	0.94253	AAG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700266	+1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	C
CHRNB3	1142	genome.wustl.edu	37	8	42585773	42585773	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:42585773G>A	ENST00000289957.2	+	4	414	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	96					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	GAATCCTGATGATTATGGTGG	0.358																																																	0													111.0	101.0	104.0					8																	42585773		2203	4300	6503	SO:0001583	missense	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.286G>A	8.37:g.42585773G>A	ENSP00000289957:p.Asp96Asn		Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D96N	ENST00000289957.2	37	c.286	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	g	16.73	3.204022	0.58234	.	.	ENSG00000147432	ENST00000289957	T	0.80033	-1.33	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.314966	0.37955	N	0.001862	T	0.74741	0.3756	L	0.34521	1.04	0.35980	D	0.835951	B	0.06786	0.001	B	0.11329	0.006	T	0.74887	-0.3511	10	0.59425	D	0.04	.	18.1945	0.89817	0.0:0.0:1.0:0.0	.	96	Q05901	ACHB3_HUMAN	N	96	ENSP00000289957:D96N	ENSP00000289957:D96N	D	+	1	0	CHRNB3	42704930	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	4.834000	0.62774	2.651000	0.90000	0.650000	0.86243	GAT	CHRNB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.358	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	G			42585773	+1	no_errors	ENST00000289957	ensembl	human	known	70_37	missense	SNP	0.998	A
CHST5	23563	genome.wustl.edu	37	16	75563052	75563052	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:75563052C>T	ENST00000336257.3	-	3	2625	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D417N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	411					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGTTCTCAGTCAGGCGATGCC	0.662																																																	0													30.0	24.0	26.0					16																	75563052		2198	4298	6496	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1231G>A	16.37:g.75563052C>T	ENSP00000338783:p.Asp411Asn		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.D417N	ENST00000336257.3	37	c.1249	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794796	0.50102	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96802	-4.12;-4.13	2.84	0.58	0.17402	.	0.709485	0.12418	N	0.470682	D	0.84047	0.5386	N	0.02011	-0.69	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.17098	0.017;0.007	T	0.76326	-0.3000	10	0.07325	T	0.83	.	5.3142	0.15847	0.0:0.3111:0.0:0.6889	.	417;411	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	N	411;417	ENSP00000338783:D411N;ENSP00000441220:D417N	ENSP00000338783:D411N	D	-	1	0	CHST5	74120553	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-1.200000	0.03029	0.326000	0.23384	0.313000	0.20887	GAC	CHST5	-	NULL		0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	C	NM_012126		75563052	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	0.000	T
CHSY3	337876	genome.wustl.edu	37	5	129241194	129241194	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:129241194C>T	ENST00000305031.4	+	1	1030	c.672C>T	c.(670-672)atC>atT	p.I224I	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	224	Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGCCTGTCATCGCGCTACCGG	0.617																																																	0													42.0	48.0	46.0					5																	129241194		2200	4294	6494	SO:0001819	synonymous_variant	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.672C>T	5.37:g.129241194C>T			B2RP97|Q76L22|Q86Y52	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.I224	ENST00000305031.4	37	c.672	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Fringe-like		0.617	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	C	NM_175856		129241194	+1	no_errors	ENST00000305031	ensembl	human	known	70_37	silent	SNP	1.000	T
CIDEB	27141	genome.wustl.edu	37	14	24775198	24775198	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:24775198G>C	ENST00000336557.5	-	7	1784	c.482C>G	c.(481-483)tCt>tGt	p.S161C	CIDEB_ENST00000554411.1_Missense_Mutation_p.S161C|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000258807.5_Missense_Mutation_p.S161C|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	161					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		ACAACTCATAGAGTAGAGCCC	0.483																																																	0													135.0	130.0	132.0					14																	24775198		2203	4300	6503	SO:0001583	missense	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.482C>G	14.37:g.24775198G>C	ENSP00000337731:p.Ser161Cys		D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.S161C	ENST00000336557.5	37	c.482	CCDS32056.1	14	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882110	0.72294	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	D;D;D	0.84370	-1.84;-1.84;-1.84	5.08	5.08	0.68730	.	0.171587	0.53938	D	0.000058	D	0.90837	0.7122	M	0.83774	2.66	0.80722	D	1	D	0.64830	0.994	P	0.54372	0.75	D	0.92287	0.5838	10	0.87932	D	0	-18.7211	17.4084	0.87480	0.0:0.0:1.0:0.0	.	161	Q9UHD4	CIDEB_HUMAN	C	161	ENSP00000451089:S161C;ENSP00000337731:S161C;ENSP00000258807:S161C	ENSP00000258807:S161C	S	-	2	0	CIDEB	23845038	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.531000	0.67148	2.654000	0.90174	0.563000	0.77884	TCT	CIDEB	-	NULL		0.483	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	G			24775198	-1	no_errors	ENST00000258807	ensembl	human	known	70_37	missense	SNP	1.000	C
CIZ1	25792	genome.wustl.edu	37	9	130931159	130931159	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130931159C>T	ENST00000393608.1	-	14	2498				CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000277465.4_Intron|CIZ1_ENST00000325721.8_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Intron|CIZ1_ENST00000372938.5_Intron|CIZ1_ENST00000357558.5_Intron	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ACTCTCTAGTCATCATGCATA	0.493																																																	0													145.0	116.0	125.0					9																	130931159		692	1591	2283	SO:0001627	intron_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2295+171G>A	9.37:g.130931159C>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-		0.493	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127		130931159	-1	no_errors	ENST00000476541	ensembl	human	known	70_37	rna	SNP	0.000	T
CLK1	1195	genome.wustl.edu	37	2	201722520	201722520	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:201722520G>A	ENST00000321356.4	-	7	888	c.753C>T	c.(751-753)ttC>ttT	p.F251F	CLK1_ENST00000409769.2_Silent_p.F74F|CLK1_ENST00000434813.2_Silent_p.F293F	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTCTTTAATGAAGTCGTAAG	0.373																																																	0													91.0	85.0	87.0					2																	201722520		2203	4300	6503	SO:0001819	synonymous_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.753C>T	2.37:g.201722520G>A			B4DFW7|Q0P694|Q8N5V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F251	ENST00000321356.4	37	c.753	CCDS2331.1	2																																																																																			CLK1	-	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		0.373	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	G			201722520	-1	no_errors	ENST00000321356	ensembl	human	known	70_37	silent	SNP	1.000	A
CLSTN2	64084	genome.wustl.edu	37	3	140284961	140284961	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:140284961G>A	ENST00000458420.3	+	17	2924	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	912	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGCCGAGGAAGAAATGAGCTC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													106.0	108.0	107.0					3																	140284961		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2734G>A	3.37:g.140284961G>A	ENSP00000402460:p.Glu912Lys		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E912K	ENST00000458420.3	37	c.2734	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394516	0.42512	.	.	ENSG00000158258	ENST00000458420	T	0.34667	1.35	5.32	5.32	0.75619	.	3.558290	0.00812	N	0.001511	T	0.36220	0.0959	L	0.29908	0.895	0.36682	D	0.879099	B	0.14438	0.01	B	0.12156	0.007	T	0.04708	-1.0932	9	.	.	.	-12.9841	16.4885	0.84191	0.0:0.0:1.0:0.0	.	912	Q9H4D0	CSTN2_HUMAN	K	912	ENSP00000402460:E912K	.	E	+	1	0	CLSTN2	141767651	1.000000	0.71417	0.969000	0.41365	0.822000	0.46500	8.829000	0.92055	2.477000	0.83638	0.655000	0.94253	GAA	CLSTN2	-	NULL		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	G	NM_022131		140284961	+1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	1.000	A
CLSTN3	9746	genome.wustl.edu	37	12	7290643	7290643	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7290643T>C	ENST00000266546.6	+	8	1753	c.1303T>C	c.(1303-1305)Ttc>Ctc	p.F435L	CLSTN3_ENST00000537408.1_Missense_Mutation_p.F447L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	435					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGTCAAGTTCCTCTGGAA	0.587																																																	0													70.0	62.0	65.0					12																	7290643		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1303T>C	12.37:g.7290643T>C	ENSP00000266546:p.Phe435Leu		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F435L	ENST00000266546.6	37	c.1303	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	T	34	5.362167	0.95877	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.73047	-0.71;-0.71	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.979;0.999	D;D	0.79784	0.982;0.993	D	0.84516	0.0625	10	0.87932	D	0	-31.7766	14.7878	0.69816	0.0:0.0:0.0:1.0	.	447;435	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	L	435;447	ENSP00000266546:F435L;ENSP00000440679:F447L	ENSP00000266546:F435L	F	+	1	0	CLSTN3	7181910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.849000	0.86908	2.080000	0.62538	0.379000	0.24179	TTC	CLSTN3	-	superfamily_ConA-like_lec_gl_sf		0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	T	NM_014718		7290643	+1	no_errors	ENST00000266546	ensembl	human	known	70_37	missense	SNP	1.000	C
CLTCL1	8218	genome.wustl.edu	37	22	19230407	19230407	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:19230407G>C	ENST00000263200.10	-	4	644	c.572C>G	c.(571-573)tCa>tGa	p.S191*	CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.S191*|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.S191*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	191	Globular terminal domain.|WD40-like repeat 4.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TATGGGTTGTGAAACCTTCCT	0.463			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													78.0	74.0	76.0					22																	19230407		1911	4145	6056	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.572C>G	22.37:g.19230407G>C	ENSP00000445677:p.Ser191*		B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.S191*	ENST00000263200.10	37	c.572	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.404293	0.97537	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6646	15.966	0.79970	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	ENSP00000445677:S191X	S	-	2	0	CLTCL1	17610407	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	8.552000	0.90682	1.963000	0.57068	0.655000	0.94253	TCA	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	G	NM_007098		19230407	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CMIP	80790	genome.wustl.edu	37	16	81703846	81703846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:81703846C>T	ENST00000537098.3	+	8	997	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Nonsense_Mutation_p.Q156*|CMIP_ENST00000539778.2_Nonsense_Mutation_p.Q215*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	309						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GAAGTTCATTCAGAGGTGGGT	0.557																																																	0													57.0	62.0	60.0					16																	81703846		1982	4154	6136	SO:0001587	stop_gained	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.925C>T	16.37:g.81703846C>T	ENSP00000446100:p.Gln309*		Q9C0G9	Nonsense_Mutation	SNP	NULL	p.Q309*	ENST00000537098.3	37	c.925	CCDS54044.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.522364	0.98335	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	.	.	.	4.97	4.97	0.65823	.	0.061422	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.709	0.51614	0.0:0.919:0.0:0.081	.	.	.	.	X	309;215;215;122	.	ENSP00000381120:Q215X	Q	+	1	0	CMIP	80261347	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.581000	0.67471	2.298000	0.77334	0.467000	0.42956	CAG	CMIP	-	NULL		0.557	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	C	NM_030629		81703846	+1	no_errors	ENST00000537098	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CNTN5	53942	genome.wustl.edu	37	11	99690326	99690326	+	Missense_Mutation	SNP	G	G	C	rs202004805		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:99690326G>C	ENST00000524871.1	+	4	397	c.107G>C	c.(106-108)aGa>aCa	p.R36T	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.R36T|CNTN5_ENST00000527185.1_Missense_Mutation_p.R36T|CNTN5_ENST00000279463.3_Missense_Mutation_p.R36T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	36					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTTTGTTAAGAATTAAGAAG	0.378																																																	0													124.0	124.0	124.0					11																	99690326		1874	4112	5986	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.107G>C	11.37:g.99690326G>C	ENSP00000435637:p.Arg36Thr		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R36T	ENST00000524871.1	37	c.107	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820676	0.50633	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.58652	0.32;0.38;0.38;0.38	5.06	5.06	0.68205	.	0.132901	0.47093	D	0.000243	T	0.64360	0.2591	N	0.19112	0.55	0.54753	D	0.999987	D;D	0.57899	0.981;0.981	D;D	0.69824	0.966;0.966	T	0.69292	-0.5183	10	0.87932	D	0	.	18.2985	0.90155	0.0:0.0:1.0:0.0	.	36;36	E9PKE8;O94779	.;CNTN5_HUMAN	T	36	ENSP00000433575:R36T;ENSP00000436185:R36T;ENSP00000435637:R36T;ENSP00000279463:R36T	ENSP00000279463:R36T	R	+	2	0	CNTN5	99195536	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.670000	0.54569	2.735000	0.93741	0.650000	0.86243	AGA	CNTN5	-	NULL		0.378	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	G	NM_014361		99690326	+1	no_errors	ENST00000279463	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTRL	11064	genome.wustl.edu	37	9	123914769	123914769	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123914769G>A	ENST00000373855.1	+	26	4230	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E772K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E772K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1324K			Q7Z7A1	CNTRL_HUMAN	centriolin	1324					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TCAGGAGAATGAAGTTTCTAG	0.408																																																	0													71.0	76.0	74.0					9																	123914769		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3970G>A	9.37:g.123914769G>A	ENSP00000362962:p.Glu1324Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1324K	ENST00000373855.1	37	c.3970	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884680	0.91814	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.49	5.49	0.81192	.	.	.	.	.	T	0.55721	0.1938	M	0.66939	2.045	0.51012	D	0.999908	D	0.69078	0.997	D	0.75020	0.985	T	0.54984	-0.8211	9	0.59425	D	0.04	.	18.7282	0.91722	0.0:0.0:1.0:0.0	.	1324	Q7Z7A1	CNTRL_HUMAN	K	1324;1324;1324;80;772;772	ENSP00000362962:E1324K;ENSP00000238341:E1324K;ENSP00000362956:E772K;ENSP00000362953:E772K	ENSP00000238341:E1324K	E	+	1	0	CNTRL	122954590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.473000	0.73572	2.734000	0.93682	0.655000	0.94253	GAA	CNTRL	-	NULL		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123914769	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A
SF3B3	23450	genome.wustl.edu	37	16	70557335	70557335	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:70557335G>A	ENST00000302516.5	+	0	0				COG4_ENST00000323786.5_Missense_Mutation_p.R38C|COG4_ENST00000564653.1_Missense_Mutation_p.R38C|COG4_ENST00000393612.4_Missense_Mutation_p.R34C	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTCAGGGAGCGAATGAGCTCA	0.627																																																	0													44.0	50.0	48.0					16																	70557335		2198	4300	6498	SO:0001631	upstream_gene_variant	25839			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582		16.37:g.70557335G>A	Exception_encountered		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.R38C	ENST00000302516.5	37	c.112	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895301	0.91962	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.50813	0.73;0.73	5.82	5.82	0.92795	.	0.211975	0.49916	D	0.000140	T	0.44307	0.1287	L	0.43152	1.355	0.49798	D	0.999821	D;D	0.69078	0.997;0.997	B;B	0.43575	0.424;0.424	T	0.47497	-0.9113	10	0.72032	D	0.01	-11.9931	14.8937	0.70627	0.0:0.0:0.8567:0.1433	.	33;34	Q6PIW8;Q9H9E3	.;COG4_HUMAN	C	38;34;34	ENSP00000315775:R38C;ENSP00000377236:R34C	ENSP00000315775:R38C	R	-	1	0	COG4	69114836	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.260000	0.51523	2.756000	0.94617	0.563000	0.77884	CGC	COG4	-	NULL		0.627	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000268972.1	G	NM_012426		70557335	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	missense	SNP	1.000	A
COL24A1	255631	genome.wustl.edu	37	1	86361540	86361540	+	Splice_Site	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:86361540C>A	ENST00000370571.2	-	31	3289		c.e31+1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAATTACTTACTGGTTTCCCT	0.358																																																	0													55.0	48.0	50.0					1																	86361540		1784	4068	5852	SO:0001630	splice_region_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2922+1G>T	1.37:g.86361540C>A			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	-	e31+1	ENST00000370571.2	37	c.2922+1	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209669	0.58343	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5368	0.91013	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL24A1	86134128	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	4.710000	0.61873	2.679000	0.91253	0.655000	0.94253	.	COL24A1	-	-		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890	Intron	86361540	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	splice_site	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103348829	103348829	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:103348829C>T	ENST00000370096.3	-	64	5209	c.4897G>A	c.(4897-4899)Gat>Aat	p.D1633N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1594N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1517N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D1645N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1633	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGAAGGAATCTCCTGAGCAA	0.358																																																	0													135.0	132.0	133.0					1																	103348829		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4897G>A	1.37:g.103348829C>T	ENSP00000359114:p.Asp1633Asn		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.D1645N	ENST00000370096.3	37	c.4933	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350784	0.82132	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.996	D;D;D;D;D	0.85130	0.997;0.995;0.995;0.997;0.993	D	0.94316	0.7549	10	0.87932	D	0	.	19.4353	0.94792	0.0:1.0:0.0:0.0	.	1517;1594;1645;1633;853	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	N	1633;1645;1594;853;1517	ENSP00000359114:D1633N;ENSP00000351163:D1645N;ENSP00000302551:D1594N;ENSP00000426533:D1517N	ENSP00000302551:D1594N	D	-	1	0	COL11A1	103121417	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.603000	0.88011	0.591000	0.81541	GAT	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	C	NM_080630		103348829	-1	no_errors	ENST00000358392	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A3	1285	genome.wustl.edu	37	2	228159698	228159698	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:228159698G>C	ENST00000396578.3	+	40	3599	c.3437G>C	c.(3436-3438)gGa>gCa	p.G1146A	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1146	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGATTTCCAGGATCTCCTGGA	0.433																																																	0													123.0	125.0	125.0					2																	228159698		1824	4072	5896	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3437G>C	2.37:g.228159698G>C	ENSP00000379823:p.Gly1146Ala		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1146A	ENST00000396578.3	37	c.3437	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289327	0.59976	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99329	-5.75	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000016	D	0.99453	0.9806	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.72982	0.965;0.965;0.965;0.979	D	0.98781	1.0732	10	0.87932	D	0	.	16.957	0.86262	0.0:0.0:1.0:0.0	.	1146;1146;1146;1146	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	A	1146	ENSP00000379823:G1146A	ENSP00000323334:G1146A	G	+	2	0	COL4A3	227867942	1.000000	0.71417	0.740000	0.30986	0.983000	0.72400	6.407000	0.73280	2.750000	0.94351	0.563000	0.77884	GGA	COL4A3	-	pfam_Collagen		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	G	NM_000091		228159698	+1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.727	C
COL6A5	256076	genome.wustl.edu	37	3	130174321	130174321	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:130174321G>C	ENST00000432398.2	+	37	7095	c.6601G>C	c.(6601-6603)Gat>Cat	p.D2201H	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2201H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2201	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCTACAAGAGGATTTTTTGGG	0.343																																																	0													37.0	36.0	37.0					3																	130174321		1796	4065	5861	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6601G>C	3.37:g.130174321G>C	ENSP00000390895:p.Asp2201His		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D2201H	ENST00000432398.2	37	c.6601		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.426|6.426	0.446821|0.446821	0.12223|0.12223	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.86;-0.7|.	4.38|4.38	-7.32|-7.32	0.01436|0.01436	.|.	1.763890|.	0.03591|.	N|.	0.231932|.	T|T	0.28732|0.28732	0.0712|0.0712	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;P|.	0.37276|.	0.327;0.589|.	B;B|.	0.37346|.	0.125;0.247|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.45353|.	T|.	0.12|.	.|.	8.6915|8.6915	0.34269|0.34269	0.736:0.0:0.1498:0.1142|0.736:0.0:0.1498:0.1142	.|.	2201;2201|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	H|A	2201;2201;144;36|452	ENSP00000390895:D2201H;ENSP00000265379:D2201H;ENSP00000362250:D144H;ENSP00000424968:D36H|.	ENSP00000265379:D2201H|.	D|G	+|+	1|2	0|0	COL6A5|COL6A5	131657011|131657011	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.848000|-0.848000	0.04326|0.04326	-1.567000|-1.567000	0.01671|0.01671	-0.157000|-0.157000	0.13467|0.13467	GAT|GGA	COL6A5	-	NULL		0.343	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130174321	+1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.000	C
COL9A3	1299	genome.wustl.edu	37	20	61467602	61467602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:61467602C>T	ENST00000343916.3	+	28	1468	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	489	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCGGTGTTCAGGGTGTCCC	0.697																																																	0													26.0	34.0	31.0					20																	61467602		2203	4299	6502	SO:0001587	stop_gained	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1465C>T	20.37:g.61467602C>T	ENSP00000341640:p.Gln489*		Q13681|Q9H4G9|Q9UPE2	Nonsense_Mutation	SNP	pfam_Collagen	p.Q489*	ENST00000343916.3	37	c.1465	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508177	0.44660	.	.	ENSG00000092758	ENST00000343916	.	.	.	4.63	2.66	0.31614	.	0.443877	0.23995	N	0.042525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.0886	0.64975	0.0:0.6394:0.3606:0.0	.	.	.	.	X	489	.	ENSP00000341640:Q489X	Q	+	1	0	COL9A3	60938047	0.091000	0.21658	0.041000	0.18516	0.047000	0.14425	1.159000	0.31749	0.380000	0.24823	-0.264000	0.10439	CAG	COL9A3	-	pfam_Collagen		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61467602	+1	no_errors	ENST00000343916	ensembl	human	known	70_37	nonsense	SNP	0.409	T
CPEB4	80315	genome.wustl.edu	37	5	173317731	173317731	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:173317731C>T	ENST00000265085.5	+	1	2449	c.995C>T	c.(994-996)tCg>tTg	p.S332L	CPEB4_ENST00000519835.1_Missense_Mutation_p.S332L|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.S332L|CPEB4_ENST00000334035.5_Missense_Mutation_p.S332L|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	332					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACTCCATCTCGCCTTTGAAG	0.537																																																	0													56.0	56.0	56.0					5																	173317731		2203	4300	6503	SO:0001583	missense	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.995C>T	5.37:g.173317731C>T	ENSP00000265085:p.Ser332Leu		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S332L	ENST00000265085.5	37	c.995	CCDS4390.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.197346|4.197346	0.79015|0.79015	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.|T;T;T;T	.|0.64991	.|-0.08;-0.13;-0.03;0.03	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78966|0.78966	0.4367|0.4367	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.997;0.999;0.997;0.997	T|T	0.80897|0.80897	-0.1177|-0.1177	5|10	.|0.87932	.|D	.|0	-6.4381|-6.4381	19.0156|19.0156	0.92892|0.92892	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|332;332;332;332	.|B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.|.;.;.;CPEB4_HUMAN	C|L	18|332	.|ENSP00000265085:S332L;ENSP00000429092:S332L;ENSP00000334533:S332L;ENSP00000429048:S332L	.|ENSP00000265085:S332L	R|S	+|+	1|2	0|0	CPEB4|CPEB4	173250337|173250337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.786000|7.786000	0.85741|0.85741	2.496000|2.496000	0.84212|0.84212	0.557000|0.557000	0.71058|0.71058	CGC|TCG	CPEB4	-	NULL		0.537	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	C	NM_030627		173317731	+1	no_errors	ENST00000265085	ensembl	human	known	70_37	missense	SNP	1.000	T
CPNE8	144402	genome.wustl.edu	37	12	39301163	39301163	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:39301163G>A	ENST00000331366.5	-	0	0				CPNE8_ENST00000360449.3_Missense_Mutation_p.S7L|RP11-396F22.1_ENST00000551152.1_RNA	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				catatataatgaactgcactt	0.363																																																	0													4.0	4.0	4.0					12																	39301163		826	1852	2678	SO:0001631	upstream_gene_variant	144402			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396		12.37:g.39301163G>A	Exception_encountered		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.S7L	ENST00000331366.5	37	c.20	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	7.050	0.564204	0.13498	.	.	ENSG00000139117	ENST00000360449	T	0.25749	1.78	2.4	-4.8	0.03190	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29366	-1.0014	6	0.62326	D	0.03	.	0.2225	0.00170	0.2335:0.1719:0.2551:0.3395	.	.	.	.	L	7	ENSP00000353633:S7L	ENSP00000353633:S7L	S	-	2	0	CPNE8	37587430	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.000000	0.03693	-1.497000	0.01826	-1.615000	0.00797	TCA	CPNE8	-	NULL		0.363	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	G	NM_153634		39301163	-1	no_errors	ENST00000360449	ensembl	human	putative	70_37	missense	SNP	0.000	A
CPQ	10404	genome.wustl.edu	37	8	97892112	97892112	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:97892112C>T	ENST00000220763.5	+	4	938	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	243					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GAAATGATGTCAAGAATGGCT	0.453																																																	0													201.0	197.0	198.0					8																	97892112		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.728C>T	8.37:g.97892112C>T	ENSP00000220763:p.Ser243Leu		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.S243L	ENST00000220763.5	37	c.728	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245796	0.22796	.	.	ENSG00000104324	ENST00000220763	T	0.44881	0.91	5.53	5.53	0.82687	.	0.237439	0.37304	N	0.002158	T	0.30039	0.0752	N	0.25144	0.715	0.33293	D	0.563808	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.005	T	0.22347	-1.0219	10	0.11485	T	0.65	-14.4398	17.032	0.86463	0.0:1.0:0.0:0.0	.	243;243	B5MDX4;Q9Y646	.;PGCP_HUMAN	L	243	ENSP00000220763:S243L	ENSP00000220763:S243L	S	+	2	0	AC010859.1	97961288	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.875000	0.69660	2.775000	0.95449	0.586000	0.80456	TCA	CPQ	-	NULL		0.453	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	C	NM_016134		97892112	+1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145626076	145626076	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145626076C>G	ENST00000349769.3	-	7	769	c.675G>C	c.(673-675)caG>caC	p.Q225H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	225					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGGCCAGGTCTGGTTGGGCT	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													74.0	59.0	64.0					8																	145626076		2202	4299	6501	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.675G>C	8.37:g.145626076C>G	ENSP00000339353:p.Gln225His		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q225H	ENST00000349769.3	37	c.675	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660183	0.67586	.	.	ENSG00000071894	ENST00000349769	T	0.22336	1.96	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.56280	1.765	0.58432	D	0.999999	B;D;P	0.76494	0.371;0.999;0.885	B;D;P	0.72982	0.141;0.979;0.688	T	0.03933	-1.0991	10	0.37606	T	0.19	-10.1027	17.0614	0.86548	0.0:1.0:0.0:0.0	.	225;147;225	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	H	225	ENSP00000339353:Q225H	ENSP00000339353:Q225H	Q	-	3	2	CPSF1	145596884	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.974000	0.49272	2.638000	0.89438	0.585000	0.79938	CAG	CPSF1	-	NULL		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145626076	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G
CPT1A	1374	genome.wustl.edu	37	11	68522294	68522294	+	IGR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68522294G>C	ENST00000265641.5	-	0	5232				CPT1A_ENST00000376618.2_Nonsense_Mutation_p.S754*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.S754*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)						carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAAGTATCTGAACTTGGTCC	0.388																																																	0													126.0	104.0	112.0					11																	68522294		2200	4294	6494	SO:0001628	intergenic_variant	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416			11.37:g.68522294G>C			Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	pfam_Carn_acyl_trans	p.S754*	ENST00000265641.5	37	c.2261	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022705	0.35701	.	.	ENSG00000110090	ENST00000540367;ENST00000376618	.	.	.	2.22	-2.12	0.07165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.2868	0.06935	0.4591:0.2221:0.3188:0.0	.	.	.	.	X	754	.	ENSP00000365803:S754X	S	-	2	0	CPT1A	68278870	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.221000	0.17680	-0.575000	0.05982	-0.259000	0.10710	TCA	CPT1A	-	NULL		0.388	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	G	NM_001876		68522294	-1	no_errors	ENST00000376618	ensembl	human	known	70_37	nonsense	SNP	0.000	C
CPT1A	1374	genome.wustl.edu	37	11	68562339	68562339	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68562339C>G	ENST00000265641.5	-	8	966	c.812G>C	c.(811-813)aGa>aCa	p.R271T	CPT1A_ENST00000538994.1_Missense_Mutation_p.R23T|CPT1A_ENST00000539743.1_Missense_Mutation_p.R271T|CPT1A_ENST00000376618.2_Missense_Mutation_p.R271T|CPT1A_ENST00000540367.1_Missense_Mutation_p.R271T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	271					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTTGCCGGCTCTTGCTGCCTG	0.418																																																	0													121.0	117.0	118.0					11																	68562339		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.812G>C	11.37:g.68562339C>G	ENSP00000265641:p.Arg271Thr		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R271T	ENST00000265641.5	37	c.812	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574924	0.65878	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.97940	4.11	0.80722	D	1	P;B;B	0.44986	0.847;0.261;0.346	P;B;B	0.53549	0.729;0.434;0.307	D	0.98773	1.0729	10	0.72032	D	0.01	.	17.9325	0.89002	0.0:1.0:0.0:0.0	.	271;271;271	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	T	271	ENSP00000439084:R271T;ENSP00000365803:R271T;ENSP00000265641:R271T;ENSP00000446108:R271T	ENSP00000265641:R271T	R	-	2	0	CPT1A	68318915	0.994000	0.37717	0.009000	0.14445	0.015000	0.08874	7.401000	0.79962	2.216000	0.71823	0.655000	0.94253	AGA	CPT1A	-	pfam_Carn_acyl_trans		0.418	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	C	NM_001876		68562339	-1	no_errors	ENST00000265641	ensembl	human	known	70_37	missense	SNP	0.888	G
CPXM1	56265	genome.wustl.edu	37	20	2777944	2777944	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:2777944G>T	ENST00000380605.2	-	6	790	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	242	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTCCGGCAGGAGGTTCAGCA	0.647																																																	0													28.0	35.0	33.0					20																	2777944		2200	4297	6497	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.726C>A	20.37:g.2777944G>T			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L242	ENST00000380605.2	37	c.726	CCDS13033.1	20																																																																																			CPXM1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.647	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	G	NM_019609		2777944	-1	no_errors	ENST00000380605	ensembl	human	known	70_37	silent	SNP	0.914	T
CREB3L4	148327	genome.wustl.edu	37	1	153946137	153946137	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153946137C>T	ENST00000368607.3	+	9	1205	c.939C>T	c.(937-939)ttC>ttT	p.F313F	CREB3L4_ENST00000368600.3_Silent_p.F293F|CREB3L4_ENST00000271889.4_Silent_p.F313F|CREB3L4_ENST00000405694.3_Silent_p.F166F|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000368603.1_Silent_p.F313F|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	313					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCCAGCTTCAGTCCATTCC	0.577																																																	0													30.0	32.0	31.0					1																	153946137		2203	4298	6501	SO:0001819	synonymous_variant	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.939C>T	1.37:g.153946137C>T			D3DV62|Q5T4L0|Q86YW6	Silent	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.F313	ENST00000368607.3	37	c.939	CCDS1056.1	1																																																																																			CREB3L4	-	NULL		0.577	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	C	NM_130898		153946137	+1	no_errors	ENST00000271889	ensembl	human	known	70_37	silent	SNP	1.000	T
CREG2	200407	genome.wustl.edu	37	2	102000165	102000165	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:102000165C>G	ENST00000324768.5	-	2	579		c.e2-1		CREG2_ENST00000495455.1_Splice_Site	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2							endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTCCTTGGATCTAACAAACAC	0.507																																																	0													93.0	94.0	94.0					2																	102000165		2203	4300	6503	SO:0001630	splice_region_variant	200407			AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.442-1G>C	2.37:g.102000165C>G			Q86X03|Q8N540|Q8N9E3	Splice_Site	SNP	-	e2-1	ENST00000324768.5	37	c.442-1	CCDS2052.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390857	0.82902	.	.	ENSG00000175874	ENST00000324768	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CREG2	101366597	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.177000	0.58276	2.808000	0.96608	0.655000	0.94253	.	CREG2	-	-		0.507	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG2	HGNC	protein_coding	OTTHUMT00000253188.2	C	NM_153836	Intron	102000165	-1	no_errors	ENST00000324768	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CROCC	9696	genome.wustl.edu	37	1	17273258	17273258	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:17273258G>T	ENST00000375541.5	+	17	2355	c.2286G>T	c.(2284-2286)ctG>ctT	p.L762L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCTCCAGCTGGAGGAAGAAA	0.677																																																	0													15.0	16.0	16.0					1																	17273258		2026	3960	5986	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2286G>T	1.37:g.17273258G>T				Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.L762	ENST00000375541.5	37	c.2286	CCDS30616.1	1																																																																																			CROCC	-	NULL		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17273258	+1	no_errors	ENST00000375541	ensembl	human	known	70_37	silent	SNP	0.998	T
CRNN	49860	genome.wustl.edu	37	1	152382132	152382132	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152382132C>T	ENST00000271835.3	-	3	1488	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	476					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTTCTCTTCTGACTGGGCT	0.537																																																	0													170.0	132.0	145.0					1																	152382132		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1426G>A	1.37:g.152382132C>T	ENSP00000271835:p.Glu476Lys		B2RE60|Q8N613	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E476K	ENST00000271835.3	37	c.1426	CCDS1010.1	1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320408	0.60634	.	.	ENSG00000143536	ENST00000271835	T	0.05717	3.4	4.92	4.92	0.64577	.	0.347798	0.24759	N	0.035834	T	0.05181	0.0138	L	0.57536	1.79	0.09310	N	1	P	0.52463	0.953	P	0.45829	0.494	T	0.12863	-1.0531	10	0.49607	T	0.09	.	13.4863	0.61369	0.0:1.0:0.0:0.0	.	476	Q9UBG3	CRNN_HUMAN	K	476	ENSP00000271835:E476K	ENSP00000271835:E476K	E	-	1	0	CRNN	150648756	0.000000	0.05858	0.021000	0.16686	0.073000	0.16967	0.613000	0.24299	2.536000	0.85505	0.650000	0.86243	GAA	CRNN	-	NULL		0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	C	NM_016190		152382132	-1	no_errors	ENST00000271835	ensembl	human	known	70_37	missense	SNP	0.022	T
CRTC1	23373	genome.wustl.edu	37	19	18857921	18857921	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18857921G>A	ENST00000321949.8	+	4	466	c.440G>A	c.(439-441)aGa>aAa	p.R147K	CRTC1_ENST00000601916.1_Missense_Mutation_p.R72K|CRTC1_ENST00000338797.6_Missense_Mutation_p.R163K|CRTC1_ENST00000594658.1_Missense_Mutation_p.R106K	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCAGCTGGAGAAGGTCAGTG	0.592																																																	0													77.0	71.0	73.0					19																	18857921		2203	4300	6503	SO:0001583	missense	23373			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.440G>A	19.37:g.18857921G>A	ENSP00000323332:p.Arg147Lys			Missense_Mutation	SNP	NULL	p.R163K	ENST00000321949.8	37	c.488	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.200583	0.94997	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.14766	2.48;2.51	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.78801	2.425	0.53688	D	0.999978	D;P;D	0.71674	0.982;0.916;0.998	D;D;D	0.77557	0.935;0.928;0.99	T	0.33214	-0.9877	10	0.62326	D	0.03	-13.0343	16.5026	0.84261	0.0:0.0:1.0:0.0	.	147;163;147	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	K	147;163;147	ENSP00000345001:R163K;ENSP00000323332:R147K	ENSP00000262813:R147K	R	+	2	0	CRTC1	18718921	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.949000	0.93012	2.238000	0.73509	0.313000	0.20887	AGA	CRTC1	-	NULL		0.592	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	G	NM_025021		18857921	+1	no_errors	ENST00000338797	ensembl	human	known	70_37	missense	SNP	1.000	A
CRYBB2P1	1416	genome.wustl.edu	37	22	25855390	25855390	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:25855390G>A	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CAGGTGGGTTGGCTACTAGTA	0.602																																																	0																																												1416			M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855390G>A				RNA	SNP	-	NULL	ENST00000609084.1	37	NULL		22																																																																																			CRYBB2P1	-	-		0.602	CRYBB2P1-006	KNOWN	basic	processed_transcript	CRYBB2P1	HGNC	pseudogene	OTTHUMT00000472347.1	G			25855390	+1	no_errors	ENST00000354451	ensembl	human	known	70_37	rna	SNP	1.000	A
CSAD	51380	genome.wustl.edu	37	12	53553493	53553493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:53553493C>A	ENST00000444623.1	-	16	1489	c.1222G>T	c.(1222-1224)Gag>Tag	p.E408*	CSAD_ENST00000453446.2_Nonsense_Mutation_p.E408*|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000267085.4_Nonsense_Mutation_p.E435*|CSAD_ENST00000379846.1_Nonsense_Mutation_p.E261*|CSAD_ENST00000379843.3_Nonsense_Mutation_p.E261*	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	408					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TTGACAAACTCAGGCTGAGAG	0.562											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)												0													96.0	85.0	88.0					12																	53553493		2203	4300	6503	SO:0001587	stop_gained	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1222G>T	12.37:g.53553493C>A	ENSP00000415485:p.Glu408*	993	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E435*	ENST00000444623.1	37	c.1303	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.474732|7.474732	0.98306|0.98306	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446|ENST00000379850	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.165668|.	0.51477|.	D|.	0.000086|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-34.8851|-34.8851	16.8743|16.8743	0.86047|0.86047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	497;261;435;261;408;369;408|433	.|.	ENSP00000267085:E435X|.	E|X	-|-	1|2	0|2	CSAD|CSAD	51839760|51839760	0.999000|0.999000	0.42202|0.42202	0.971000|0.971000	0.41717|0.41717	0.849000|0.849000	0.48306|0.48306	4.146000|4.146000	0.58072|0.58072	2.591000|2.591000	0.87537|0.87537	0.561000|0.561000	0.74099|0.74099	GAG|TGA	CSAD	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.562	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	C	NM_015989		53553493	-1	no_errors	ENST00000267085	ensembl	human	known	70_37	nonsense	SNP	0.996	A
CSF3R	1441	genome.wustl.edu	37	1	36932371	36932371	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:36932371C>G	ENST00000373106.1	-	17	2645	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q	CSF3R_ENST00000361632.4_Missense_Mutation_p.E700Q|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000373103.1_Missense_Mutation_p.E727Q|CSF3R_ENST00000440588.2_Missense_Mutation_p.E727Q|CSF3R_ENST00000418048.2_Missense_Mutation_p.E700Q|CSF3R_ENST00000331941.5_Missense_Mutation_p.E700Q|CSF3R_ENST00000338937.5_Missense_Mutation_p.W668C|CSF3R_ENST00000373104.1_Missense_Mutation_p.E700Q|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	700					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCATCCTCCTCCAGCACTGTG	0.607																																																	0													61.0	66.0	64.0					1																	36932371		2203	4300	6503	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2098G>C	1.37:g.36932371C>G	ENSP00000362198:p.Glu700Gln			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E727Q	ENST00000373106.1	37	c.2179	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.577218|2.577218	0.45902|0.45902	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588|ENST00000464465;ENST00000338937	T;T;T;T;T;T;T|T	0.58940|0.30448	0.51;0.3;0.34;0.51;0.3;0.51;0.34|1.53	5.81|5.81	3.62|3.62	0.41486|0.41486	.|.	0.217710|.	0.15577|.	U|.	0.255159|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.60455|0.60455	1.87|1.87	0.40117|0.40117	D|D	0.976559|0.976559	D;D;D;D|D	0.76494|0.67145	0.997;0.999;0.997;0.999|0.996	P;D;P;D|P	0.67382|0.57371	0.895;0.951;0.895;0.951|0.819	T|T	0.44143|0.44143	-0.9347|-0.9347	10|9	0.54805|0.62326	T|D	0.06|0.03	-8.8565|-8.8565	10.7824|10.7824	0.46386|0.46386	0.0:0.824:0.0:0.176|0.0:0.824:0.0:0.176	.|.	700;727;700;700|668	Q1ZYL6;Q99062-3;Q99062;Q99062-4|E1B6W6	.;.;CSF3R_HUMAN;.|.	Q|C	700;700;727;700;700;700;727|251;668	ENSP00000362198:E700Q;ENSP00000362196:E700Q;ENSP00000362195:E727Q;ENSP00000355406:E700Q;ENSP00000332180:E700Q;ENSP00000401588:E700Q;ENSP00000397568:E727Q|ENSP00000345013:W668C	ENSP00000332180:E700Q|ENSP00000345013:W668C	E|W	-|-	1|3	0|0	CSF3R|CSF3R	36704958|36704958	0.965000|0.965000	0.33210|0.33210	1.000000|1.000000	0.80357|0.80357	0.168000|0.168000	0.22595|0.22595	0.948000|0.948000	0.29096|0.29096	1.464000|1.464000	0.47987|0.47987	-0.140000|-0.140000	0.14226|0.14226	GAG|TGG	CSF3R	-	NULL		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	C	NM_156039		36932371	-1	no_errors	ENST00000373103	ensembl	human	known	70_37	missense	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113662455	113662455	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:113662455C>T	ENST00000297405.5	-	19	3372	c.3128G>A	c.(3127-3129)aGt>aAt	p.S1043N	CSMD3_ENST00000455883.2_Missense_Mutation_p.S939N|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1003N|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1043N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1043	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTTCATGACTCAACCTGTA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													130.0	128.0	129.0					8																	113662455		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3128G>A	8.37:g.113662455C>T	ENSP00000297405:p.Ser1043Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S1043N	ENST00000297405.5	37	c.3128	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940662	0.73557	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.74	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	L	0.48260	1.515	0.37186	D	0.903736	D;D;D	0.71674	0.957;0.965;0.998	P;D;D	0.71184	0.855;0.91;0.972	T	0.70256	-0.4922	10	0.18276	T	0.48	.	14.666	0.68907	0.0:0.9304:0.0:0.0696	.	939;1043;1003	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1003;1043;383;939;1043	ENSP00000345799:S1003N;ENSP00000297405:S1043N;ENSP00000341558:S383N;ENSP00000412263:S939N;ENSP00000343124:S1043N	ENSP00000297405:S1043N	S	-	2	0	CSMD3	113731631	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.050000	0.57404	1.444000	0.47605	0.561000	0.74099	AGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113662455	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T
CSTF2T	23283	genome.wustl.edu	37	10	53459272	53459272	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:53459272C>G	ENST00000331173.4	-	1	83	c.38G>C	c.(37-39)cGa>cCa	p.R13P	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	13					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ACGCAGTGATCGATCCATTGC	0.537																																																	0													109.0	110.0	110.0					10																	53459272		2201	4299	6500	SO:0001583	missense	23283			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.38G>C	10.37:g.53459272C>G	ENSP00000332444:p.Arg13Pro		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R13P	ENST00000331173.4	37	c.38	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287064	0.59867	.	.	ENSG00000177613	ENST00000331173	T	0.73681	-0.77	5.0	4.1	0.47936	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	N	0.25380	0.74	0.80722	D	1	D	0.71674	0.998	D	0.69142	0.962	T	0.78811	-0.2057	10	0.87932	D	0	-1.0292	11.5969	0.50979	0.0:0.9131:0.0:0.0869	.	13	Q9H0L4	CSTFT_HUMAN	P	13	ENSP00000332444:R13P	ENSP00000332444:R13P	R	-	2	0	CSTF2T	53129278	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.739000	0.62080	1.485000	0.48380	0.585000	0.79938	CGA	CSTF2T	-	NULL		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	C	NM_015235		53459272	-1	no_errors	ENST00000331173	ensembl	human	known	70_37	missense	SNP	1.000	G
CT45A1	541466	genome.wustl.edu	37	X	134856890	134856890	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:134856890G>A	ENST00000497301.2	+	0	755				CT45A1_ENST00000370741.3_3'UTR|CT45A1_ENST00000482795.1_3'UTR			Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1																		TTCTACAATGGAGCAGGATAT	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	541466			AY743709	CCDS48174.1	Xq26.3	2009-03-12				ENSG00000268940			33267	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-1"""	300648				15905330	Standard	XM_005278141		Approved	CT45-1, CT45.1	uc004eyy.3	Q5HYN5		ENST00000497301.2:c.*95G>A	X.37:g.134856890G>A			B9EIR8	RNA	SNP	-	NULL	ENST00000497301.2	37	NULL	CCDS48174.1	X																																																																																			CT45A1	-	-		0.393	CT45A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CT45A1	HGNC	protein_coding	OTTHUMT00000058430.3	G	NM_001017417		134856890	+1	no_errors	ENST00000482795	ensembl	human	known	70_37	rna	SNP	0.001	A
CTAGE5	4253	genome.wustl.edu	37	14	39736708	39736708	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:39736708C>T	ENST00000280083.3	+	1	359	c.45C>T	c.(43-45)ctC>ctT	p.L15L	CTAGE5_ENST00000348007.3_Silent_p.L15L|CTAGE5_ENST00000557038.1_Intron|RP11-407N17.3_ENST00000553728.1_Intron|CTAGE5_ENST00000341502.5_Silent_p.L15L|RP11-407N17.5_ENST00000553520.1_RNA|RP11-407N17.3_ENST00000603904.1_Intron|CTAGE5_ENST00000396158.2_Silent_p.L15L|RP11-407N17.5_ENST00000605298.1_RNA|CTAGE5_ENST00000556148.1_5'UTR|CTAGE5_ENST00000396165.4_Intron|CTAGE5_ENST00000341749.3_Intron			O15320	CTGE5_HUMAN	CTAGE family, member 5	15					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGGGGCTGCTCCTGGAGGAGC	0.667																																																	0													30.0	31.0	31.0					14																	39736708		2203	4300	6503	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.45C>T	14.37:g.39736708C>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.L15	ENST00000280083.3	37	c.45	CCDS9674.1	14																																																																																			CTAGE5	-	NULL		0.667	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39736708	+1	no_errors	ENST00000396158	ensembl	human	known	70_37	silent	SNP	0.963	T
CTNNA1	1495	genome.wustl.edu	37	5	138268317	138268317	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138268317C>T	ENST00000302763.7	+	17	2439	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	CTNNA1_ENST00000540387.1_Silent_p.I413I|CTNNA1_ENST00000518825.1_Silent_p.I783I|CTNNA1_ENST00000355078.5_Silent_p.I680I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	783					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)			TGCAACGCATCGCCCTCTACT	0.587																																																	0													62.0	55.0	57.0					5																	138268317		2203	4300	6503	SO:0001819	synonymous_variant	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.2349C>T	5.37:g.138268317C>T			Q12795|Q8N1C0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.I783	ENST00000302763.7	37	c.2349	CCDS34243.1	5																																																																																			CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin		0.587	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	C	NM_001903		138268317	+1	no_errors	ENST00000302763	ensembl	human	known	70_37	silent	SNP	0.992	T
CTNNB1	1499	genome.wustl.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	rs121913416|rs121913403		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:41266113C>G	ENST00000349496.5	+	3	390	c.110C>G	c.(109-111)tCt>tGt	p.S37C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGAATCCATTCTGGTGCCACT	0.498	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	474	Substitution - Missense(344)|Deletion - In frame(102)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	liver(145)|endometrium(64)|stomach(38)|skin(34)|ovary(33)|central_nervous_system(28)|pancreas(28)|large_intestine(22)|pituitary(22)|lung(21)|biliary_tract(15)|thyroid(4)|soft_tissue(4)|urinary_tract(4)|small_intestine(3)|oesophagus(3)|adrenal_gland(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)|breast(1)											93.0	78.0	83.0					3																	41266113		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.110C>G	3.37:g.41266113C>G	ENSP00000344456:p.Ser37Cys		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S37C	ENST00000349496.5	37	c.110	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407996	0.83340	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75297	-0.3367	10	0.87932	D	0	-15.9763	19.9596	0.97236	0.0:1.0:0.0:0.0	.	37	P35222	CTNB1_HUMAN	C	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30C;ENSP00000385604:S37C;ENSP00000412219:S37C;ENSP00000379486:S37C;ENSP00000344456:S37C;ENSP00000411226:S30C;ENSP00000379488:S37C;ENSP00000409302:S37C;ENSP00000401599:S37C	ENSP00000344456:S37C	S	+	2	0	CTNNB1	41241117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TCT	CTNNB1	-	NULL		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	C	NM_001098210		41266113	+1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	1.000	G
CTNNB1	1499	genome.wustl.edu	37	3	41277973	41277973	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:41277973C>G	ENST00000349496.5	+	12	2217	c.1937C>G	c.(1936-1938)tCt>tGt	p.S646C	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S646C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S639C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S646C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S646C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	646					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S646F(1)|p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTACTTCACTCTAGGAATGAA	0.473		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	2	Substitution - Missense(1)|Complex - deletion inframe(1)	endometrium(1)|kidney(1)											92.0	96.0	95.0					3																	41277973		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1937C>G	3.37:g.41277973C>G	ENSP00000344456:p.Ser646Cys		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.S646C	ENST00000349496.5	37	c.1937	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331812	0.60853	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.096661	0.64402	D	0.000001	T	0.73644	0.3613	M	0.81942	2.565	0.80722	D	1	P;B;P	0.41393	0.748;0.039;0.748	B;B;B	0.41440	0.241;0.106;0.357	T	0.77840	-0.2438	10	0.66056	D	0.02	-14.0695	19.8246	0.96612	0.0:1.0:0.0:0.0	.	574;81;646	B4DSW9;P35222-2;P35222	.;.;CTNB1_HUMAN	C	646;646;646;639;646	ENSP00000385604:S646C;ENSP00000379486:S646C;ENSP00000344456:S646C;ENSP00000411226:S639C;ENSP00000379488:S646C	ENSP00000344456:S646C	S	+	2	0	CTNNB1	41252977	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	6.089000	0.71384	2.676000	0.91093	0.563000	0.77884	TCT	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo		0.473	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	C	NM_001098210		41277973	+1	no_errors	ENST00000349496	ensembl	human	known	70_37	missense	SNP	0.999	G
CUBN	8029	genome.wustl.edu	37	10	16967336	16967336	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:16967336G>C	ENST00000377833.4	-	43	6615	c.6550C>G	c.(6550-6552)Ctg>Gtg	p.L2184V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2184	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAACAGAGTTGATGAA	0.398																																																	0													70.0	70.0	70.0					10																	16967336		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6550C>G	10.37:g.16967336G>C	ENSP00000367064:p.Leu2184Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.L2184V	ENST00000377833.4	37	c.6550	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	6.934	0.542014	0.13250	.	.	ENSG00000107611	ENST00000377833	T	0.16073	2.37	5.32	0.646	0.17789	CUB (5);	0.000000	0.37348	N	0.002139	T	0.08935	0.0221	N	0.21583	0.68	0.50467	D	0.999873	P	0.34837	0.472	B	0.37422	0.249	T	0.33085	-0.9882	10	0.23302	T	0.38	.	2.7842	0.05369	0.0946:0.3139:0.2097:0.3819	.	2184	O60494	CUBN_HUMAN	V	2184	ENSP00000367064:L2184V	ENSP00000367064:L2184V	L	-	1	2	CUBN	17007342	0.379000	0.25123	0.859000	0.33776	0.262000	0.26303	0.531000	0.23052	-0.038000	0.13624	0.655000	0.94253	CTG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		16967336	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.242	C
CXCL3	2921	genome.wustl.edu	37	4	74903836	74903836	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:74903836C>T	ENST00000296026.4	-	3	359	c.282G>A	c.(280-282)caG>caA	p.Q94Q	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	94					immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			CGATGATTTTCTGAACCATGG	0.488																																																	0													88.0	87.0	88.0					4																	74903836		2203	4300	6503	SO:0001819	synonymous_variant	2921			M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"""Endogenous ligands"""	4604	protein-coding gene	gene with protein product		139111	"""GRO3 oncogene"""	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.282G>A	4.37:g.74903836C>T			Q4W5H9	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.Q94	ENST00000296026.4	37	c.282	CCDS34007.1	4																																																																																			CXCL3	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC		0.488	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL3	HGNC	protein_coding	OTTHUMT00000362721.1	C			74903836	-1	no_errors	ENST00000296026	ensembl	human	known	70_37	silent	SNP	0.824	T
CXorf66	347487	genome.wustl.edu	37	X	139038520	139038520	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:139038520G>C	ENST00000370540.1	-	3	644	c.621C>G	c.(619-621)gtC>gtG	p.V207V		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	207						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GAGGTGGCCTGACTGGCTTAT	0.453																																																	0													156.0	137.0	143.0					X																	139038520		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.621C>G	X.37:g.139038520G>C				Silent	SNP	NULL	p.V207	ENST00000370540.1	37	c.621	CCDS35411.1	X																																																																																			CXorf66	-	NULL		0.453	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	HGNC	protein_coding	OTTHUMT00000058572.1	G	NM_001013403		139038520	-1	no_errors	ENST00000370540	ensembl	human	known	70_37	silent	SNP	0.000	C
CYP11B1	1584	genome.wustl.edu	37	8	143961221	143961221	+	Silent	SNP	G	G	T	rs200581194		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:143961221G>T	ENST00000292427.4	-	1	41	c.9C>A	c.(7-9)ctC>ctA	p.L3L	CYP11B1_ENST00000377675.3_Silent_p.L3L|CYP11B1_ENST00000517471.1_Silent_p.L3L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	3					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTTTGCCCTGAGTGCCATTC	0.617									Familial Hyperaldosteronism type I																																								0													132.0	128.0	129.0					8																	143961221		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.9C>A	8.37:g.143961221G>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L3	ENST00000292427.4	37	c.9	CCDS6392.1	8																																																																																			CYP11B1	-	NULL		0.617	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	G			143961221	-1	no_errors	ENST00000292427	ensembl	human	known	70_37	silent	SNP	0.000	T
CYP39A1	51302	genome.wustl.edu	37	6	46605600	46605600	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:46605600C>G	ENST00000275016.2	-	4	807	c.604G>C	c.(604-606)Gag>Cag	p.E202Q		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	202					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACCCATACTCAAAATCTTCA	0.338																																																	0													105.0	105.0	105.0					6																	46605600		2203	4300	6503	SO:0001583	missense	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.604G>C	6.37:g.46605600C>G	ENSP00000275016:p.Glu202Gln		Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.E202Q	ENST00000275016.2	37	c.604	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531226	0.64972	.	.	ENSG00000146233	ENST00000275016	T	0.65549	-0.16	5.65	3.76	0.43208	.	0.122078	0.52532	D	0.000071	T	0.55433	0.1920	L	0.60455	1.87	0.43462	D	0.995662	D;D	0.59357	0.97;0.985	P;P	0.54346	0.749;0.749	T	0.55842	-0.8077	10	0.14252	T	0.57	-13.0069	14.9013	0.70681	0.0:0.73:0.27:0.0	.	182;202	B7Z786;Q9NYL5	.;CP39A_HUMAN	Q	202	ENSP00000275016:E202Q	ENSP00000275016:E202Q	E	-	1	0	CYP39A1	46713559	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	2.540000	0.45727	1.514000	0.48869	0.655000	0.94253	GAG	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.338	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	C			46605600	-1	no_errors	ENST00000275016	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP4F12	66002	genome.wustl.edu	37	19	15807267	15807267	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15807267G>C	ENST00000550308.1	+	12	1722	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.E448Q	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	448					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTTTGACCCAGAGAACAGCAA	0.562																																																	0													125.0	119.0	121.0					19																	15807267		2202	4300	6502	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1342G>C	19.37:g.15807267G>C	ENSP00000448998:p.Glu448Gln		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E448Q	ENST00000550308.1	37	c.1342	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003476	0.35320	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.81415	-1.49;-1.49	2.31	2.31	0.28768	.	0.718111	0.11668	U	0.541159	D	0.84488	0.5483	M	0.89414	3.03	0.41573	D	0.988698	B	0.24576	0.106	B	0.34452	0.183	D	0.85628	0.1268	10	0.87932	D	0	.	10.711	0.45984	0.0:0.0:1.0:0.0	.	448	Q9HCS2	CP4FC_HUMAN	Q	448	ENSP00000448998:E448Q;ENSP00000321821:E448Q	ENSP00000321821:E448Q	E	+	1	0	CYP4F12	15668267	0.303000	0.24463	0.946000	0.38457	0.304000	0.27724	2.089000	0.41672	1.597000	0.50072	0.313000	0.20887	GAG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	G			15807267	+1	no_errors	ENST00000324632	ensembl	human	known	70_37	missense	SNP	1.000	C
CYTIP	9595	genome.wustl.edu	37	2	158272376	158272376	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:158272376G>A	ENST00000264192.3	-	8	1014	c.893C>T	c.(892-894)tCt>tTt	p.S298F	CYTIP_ENST00000540637.1_Missense_Mutation_p.S192F	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	298	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCTCCTTGAAGATGACCTCCT	0.552																																																	0													116.0	108.0	110.0					2																	158272376		2203	4300	6503	SO:0001583	missense	9595			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.893C>T	2.37:g.158272376G>A	ENSP00000264192:p.Ser298Phe		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S298F	ENST00000264192.3	37	c.893	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034668	0.35893	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.48201	2.12;0.82	5.76	5.76	0.90799	.	0.216900	0.48286	D	0.000193	T	0.50480	0.1618	M	0.68317	2.08	0.42205	D	0.99178	P	0.39576	0.679	B	0.35813	0.211	T	0.57470	-0.7806	10	0.72032	D	0.01	-12.7481	19.9192	0.97079	0.0:0.0:1.0:0.0	.	298	O60759	CYTIP_HUMAN	F	298;192	ENSP00000264192:S298F;ENSP00000440801:S192F	ENSP00000264192:S298F	S	-	2	0	CYTIP	157980622	0.877000	0.30153	0.559000	0.28332	0.127000	0.20565	4.171000	0.58236	2.882000	0.98803	0.655000	0.94253	TCT	CYTIP	-	NULL		0.552	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	G	NM_004288		158272376	-1	no_errors	ENST00000264192	ensembl	human	known	70_37	missense	SNP	0.958	A
DAAM1	23002	genome.wustl.edu	37	14	59789812	59789812	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:59789812G>C	ENST00000395125.1	+	5	666	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	DAAM1_ENST00000351081.1_Missense_Mutation_p.E215Q|DAAM1_ENST00000360909.3_Missense_Mutation_p.E215Q	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	215	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCTGAGCACAGAGAACATTAA	0.522																																																	0													42.0	42.0	42.0					14																	59789812		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.643G>C	14.37:g.59789812G>C	ENSP00000378557:p.Glu215Gln		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.E215Q	ENST00000395125.1	37	c.643	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617678	0.87359	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.87179	-2.22;-2.22;-2.22	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.042778	0.85682	D	0.000000	D	0.94105	0.8110	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.81914	0.991;0.995	D	0.91750	0.5411	10	0.33141	T	0.24	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	215;215	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Q	215	ENSP00000354162:E215Q;ENSP00000247170:E215Q;ENSP00000378557:E215Q	ENSP00000247170:E215Q	E	+	1	0	DAAM1	58859565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAG	DAAM1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold		0.522	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	G	NM_014992		59789812	+1	no_errors	ENST00000351081	ensembl	human	known	70_37	missense	SNP	1.000	C
DACH2	117154	genome.wustl.edu	37	X	86067873	86067873	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:86067873C>G	ENST00000373125.4	+	8	1255	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E	DACH2_ENST00000510272.1_Missense_Mutation_p.Q200E|DACH2_ENST00000508860.1_Missense_Mutation_p.Q252E|DACH2_ENST00000373131.1_Missense_Mutation_p.Q406E	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	419					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGTACCAGTTCAAATTCCAAT	0.423																																																	0													70.0	63.0	65.0					X																	86067873		2203	4300	6503	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1255C>G	X.37:g.86067873C>G	ENSP00000362217:p.Gln419Glu		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.Q419E	ENST00000373125.4	37	c.1255	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	C	3.164	-0.171487	0.06421	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82081	-1.56;-1.57	4.51	3.62	0.41486	.	0.299003	0.27495	N	0.019104	T	0.67562	0.2906	N	0.14661	0.345	0.21950	N	0.999458	B;B;B;B	0.32467	0.123;0.123;0.372;0.1	B;B;B;B	0.32677	0.052;0.076;0.15;0.039	T	0.55976	-0.8055	10	0.18276	T	0.48	.	11.889	0.52618	0.0:0.6662:0.3338:0.0	.	285;419;406;419	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	E	419;406;419;252;200;252;74	ENSP00000362223:Q406E;ENSP00000362217:Q419E	ENSP00000345134:Q419E	Q	+	1	0	DACH2	85954529	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	1.997000	0.40786	1.822000	0.53115	0.513000	0.50165	CAA	DACH2	-	NULL		0.423	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		86067873	+1	no_errors	ENST00000373125	ensembl	human	known	70_37	missense	SNP	0.970	G
DAG1	1605	genome.wustl.edu	37	3	49568587	49568587	+	Missense_Mutation	SNP	C	C	T	rs562046526		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:49568587C>T	ENST00000539901.1	+	3	1201	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	DAG1_ENST00000541308.1_Missense_Mutation_p.R215W|DAG1_ENST00000515359.2_Missense_Mutation_p.R215W|DAG1_ENST00000308775.2_Missense_Mutation_p.R215W|DAG1_ENST00000538711.1_Missense_Mutation_p.R215W|DAG1_ENST00000545947.1_Missense_Mutation_p.R215W	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	215	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCACAGGATGCGGAGCTTCTC	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23010	0.0		0.0	False		,,,				2504	0.0																0													72.0	76.0	74.0					3																	49568587		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.643C>T	3.37:g.49568587C>T	ENSP00000439334:p.Arg215Trp		A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.R215W	ENST00000539901.1	37	c.643	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553298	0.45487	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.92	4.98	0.66077	.	0.351548	0.33650	N	0.004698	T	0.72228	0.3434	L	0.51422	1.61	0.39956	D	0.974603	D	0.54397	0.966	B	0.42916	0.402	T	0.76950	-0.2769	10	0.66056	D	0.02	-1.1784	11.2524	0.49034	0.3412:0.6588:0.0:0.0	.	215	Q14118	DAG1_HUMAN	W	215;215;215;215;215;215;14	ENSP00000440705:R215W;ENSP00000312435:R215W;ENSP00000442600:R215W;ENSP00000440590:R215W;ENSP00000439334:R215W;ENSP00000438421:R215W	ENSP00000312435:R215W	R	+	1	2	DAG1	49543591	1.000000	0.71417	0.985000	0.45067	0.915000	0.54546	5.784000	0.68990	2.804000	0.96469	0.655000	0.94253	CGG	DAG1	-	NULL		0.507	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	C			49568587	+1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	0.991	T
DAGLA	747	genome.wustl.edu	37	11	61491027	61491027	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:61491027G>A	ENST00000257215.5	+	5	647	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	177					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGCGTAACCTGCGGACCTACA	0.602																																																	0													106.0	94.0	98.0					11																	61491027		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.531G>A	11.37:g.61491027G>A			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.L177	ENST00000257215.5	37	c.531	CCDS31578.1	11																																																																																			DAGLA	-	NULL		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	G	NM_006133		61491027	+1	no_errors	ENST00000257215	ensembl	human	known	70_37	silent	SNP	0.998	A
DBF4B	80174	genome.wustl.edu	37	17	42807339	42807339	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42807339G>A	ENST00000315005.3	+	4	430	c.292G>A	c.(292-294)Gag>Aag	p.E98K	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.E98K|DBF4B_ENST00000393547.2_Missense_Mutation_p.E98K	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	98	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AGTAAAGGCAGAGAGCAGTGG	0.517																																																	0													108.0	97.0	101.0					17																	42807339		2203	4300	6503	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.292G>A	17.37:g.42807339G>A	ENSP00000323663:p.Glu98Lys		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.E98K	ENST00000315005.3	37	c.292	CCDS11485.1	17	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891515	0.52014	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005	T;T;T	0.11277	2.79;2.79;2.79	4.99	4.03	0.46877	.	0.350840	0.24240	N	0.040278	T	0.17746	0.0426	L	0.47716	1.5	0.25850	N	0.983952	D;P;D;P	0.63880	0.988;0.932;0.993;0.932	P;P;P;D	0.64042	0.794;0.763;0.787;0.921	T	0.04495	-1.0947	10	0.08381	T	0.77	-23.0231	8.9896	0.36014	0.099:0.0:0.901:0.0	.	98;82;98;98	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	K	98	ENSP00000377178:E98K;ENSP00000381381:E98K;ENSP00000323663:E98K	ENSP00000323663:E98K	E	+	1	0	DBF4B	40162865	0.996000	0.38824	0.986000	0.45419	0.272000	0.26649	2.309000	0.43699	1.327000	0.45338	0.561000	0.74099	GAG	DBF4B	-	NULL		0.517	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	HGNC	protein_coding	OTTHUMT00000385930.1	G	NM_025104		42807339	+1	no_errors	ENST00000315005	ensembl	human	known	70_37	missense	SNP	0.998	A
DCAF7	10238	genome.wustl.edu	37	17	61666384	61666384	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:61666384C>T	ENST00000310827.4	+	8	1096	c.879C>T	c.(877-879)atC>atT	p.I293I	DCAF7_ENST00000415273.2_Silent_p.I93I|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	293					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AGGCTCTCATCTGGGACATCC	0.542																																																	0													51.0	51.0	51.0					17																	61666384		2032	4183	6215	SO:0001819	synonymous_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.879C>T	17.37:g.61666384C>T			B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I293	ENST00000310827.4	37	c.879		17																																																																																			DCAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		C	NM_005828		61666384	+1	no_errors	ENST00000310827	ensembl	human	known	70_37	silent	SNP	1.000	T
DCBLD2	131566	genome.wustl.edu	37	3	98520480	98520480	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:98520480C>T	ENST00000326840.6	-	14	2046	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	DCBLD2_ENST00000326857.9_Missense_Mutation_p.E562K	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	562					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TAGGTGCCTTCAGTTTTTTTC	0.483																																																	0													52.0	54.0	54.0					3																	98520480		1850	4091	5941	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1684G>A	3.37:g.98520480C>T	ENSP00000321573:p.Glu562Lys		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.E562K	ENST00000326840.6	37	c.1684	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891388	0.52014	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.91686	-2.74;-2.89	5.41	4.54	0.55810	.	0.051424	0.85682	N	0.000000	D	0.89584	0.6757	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.15930	0.015;0.003	B;B	0.21917	0.037;0.004	D	0.85616	0.1261	10	0.31617	T	0.26	-19.258	12.2835	0.54779	0.0:0.917:0.0:0.083	.	562;562	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	K	562	ENSP00000321573:E562K;ENSP00000321646:E562K	ENSP00000321573:E562K	E	-	1	0	DCBLD2	100003170	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	5.113000	0.64640	1.425000	0.47237	0.655000	0.94253	GAA	DCBLD2	-	NULL		0.483	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	C	NM_080927		98520480	-1	no_errors	ENST00000326857	ensembl	human	known	70_37	missense	SNP	0.998	T
DCDC2B	149069	genome.wustl.edu	37	1	32678163	32678163	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:32678163C>T	ENST00000409358.1	+	5	600	c.600C>T	c.(598-600)gtC>gtT	p.V200V		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	200	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTGGCTGTCGGAGAGGATG	0.597																																																	1	Substitution - coding silent(1)	breast(1)											75.0	80.0	79.0					1																	32678163		1985	4160	6145	SO:0001819	synonymous_variant	149069			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.600C>T	1.37:g.32678163C>T			B7ZBC6	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V200	ENST00000409358.1	37	c.600	CCDS44100.1	1																																																																																			DCDC2B	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.597	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	C	XM_940631		32678163	+1	no_errors	ENST00000409358	ensembl	human	known	70_37	silent	SNP	0.498	T
DCHS1	8642	genome.wustl.edu	37	11	6644960	6644960	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:6644960G>C	ENST00000299441.3	-	21	8358	c.7947C>G	c.(7945-7947)ctC>ctG	p.L2649L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2649	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCTCAAAGAGCCCTGATG	0.607																																																	0													63.0	57.0	59.0					11																	6644960		2201	4296	6497	SO:0001819	synonymous_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7947C>G	11.37:g.6644960G>C			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L2649	ENST00000299441.3	37	c.7947	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6644960	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	silent	SNP	1.000	C
DDX19A	55308	genome.wustl.edu	37	16	70405280	70405280	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:70405280G>C	ENST00000302243.7	+	11	1352	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H	DDX19A_ENST00000417604.2_Missense_Mutation_p.D366H|DDX19A_ENST00000443119.2_Missense_Mutation_p.D307H	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	397	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCAGGCATTGATGTTGAACA	0.517																																																	0													56.0	53.0	54.0					16																	70405280		2198	4297	6495	SO:0001583	missense	55308			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1189G>C	16.37:g.70405280G>C	ENSP00000306117:p.Asp397His		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D397H	ENST00000302243.7	37	c.1189	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833646	0.50951	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.21361	2.01;2.01;2.01	5.08	5.08	0.68730	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.84585	2.705	0.80722	D	1	P;D;P;D;D	0.89917	0.949;0.992;0.953;1.0;0.995	P;D;P;D;D	0.91635	0.539;0.993;0.791;0.999;0.909	T	0.59606	-0.7423	10	0.87932	D	0	.	15.9818	0.80116	0.0:0.0:1.0:0.0	.	307;366;232;397;398	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	H	397;289;366;307	ENSP00000306117:D397H;ENSP00000410243:D366H;ENSP00000399208:D307H	ENSP00000306209:D289H	D	+	1	0	DDX19A	68962781	1.000000	0.71417	0.990000	0.47175	0.123000	0.20343	9.143000	0.94623	2.361000	0.80049	0.491000	0.48974	GAT	DDX19A	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.517	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	G	NM_018332		70405280	+1	no_errors	ENST00000302243	ensembl	human	known	70_37	missense	SNP	1.000	C
DDX20	11218	genome.wustl.edu	37	1	112303170	112303170	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:112303170G>C	ENST00000369702.4	+	4	1260	c.640G>C	c.(640-642)Gat>Cat	p.D214H	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	214	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGAAGCAGATAAGCTTTT	0.323																																																	0													94.0	103.0	100.0					1																	112303170		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.640G>C	1.37:g.112303170G>C	ENSP00000358716:p.Asp214His		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D214H	ENST00000369702.4	37	c.640	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454802	0.84209	.	.	ENSG00000064703	ENST00000369702	T	0.02709	4.19	5.49	5.49	0.81192	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61093	-0.7132	10	0.87932	D	0	-20.7923	18.9555	0.92657	0.0:0.0:1.0:0.0	.	214	Q9UHI6	DDX20_HUMAN	H	214	ENSP00000358716:D214H	ENSP00000358716:D214H	D	+	1	0	DDX20	112104693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.334000	0.96470	2.570000	0.86706	0.591000	0.81541	GAT	DDX20	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	G	NM_007204		112303170	+1	no_errors	ENST00000369702	ensembl	human	known	70_37	missense	SNP	1.000	C
DDX21	9188	genome.wustl.edu	37	10	70738685	70738685	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70738685G>C	ENST00000354185.4	+	13	2088	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	664					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTGGGCGAGGAGATTGATTC	0.433																																																	0													128.0	133.0	131.0					10																	70738685		2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1990G>C	10.37:g.70738685G>C	ENSP00000346120:p.Glu664Gln		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E664Q	ENST00000354185.4	37	c.1990	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429283	0.43122	.	.	ENSG00000165732	ENST00000354185	T	0.18016	2.24	5.69	4.56	0.56223	GUCT (1);	0.525532	0.23319	N	0.049480	T	0.16428	0.0395	L	0.41824	1.3	0.32105	N	0.590106	B	0.15473	0.013	B	0.23018	0.043	T	0.06552	-1.0820	10	0.48119	T	0.1	-51.277	12.3082	0.54914	0.103:0.0:0.897:0.0	.	664	Q9NR30	DDX21_HUMAN	Q	664	ENSP00000346120:E664Q	ENSP00000346120:E664Q	E	+	1	0	DDX21	70408691	1.000000	0.71417	0.530000	0.27963	0.701000	0.40568	2.984000	0.49353	1.192000	0.43071	0.655000	0.94253	GAG	DDX21	-	pfam_GUCT		0.433	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	G	NM_004728		70738685	+1	no_errors	ENST00000354185	ensembl	human	known	70_37	missense	SNP	0.992	C
DDX27	55661	genome.wustl.edu	37	20	47860346	47860346	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:47860346C>T	ENST00000371764.4	+	21	2381				ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTGATTTTCTTACAGATAC	0.463																																																	0													89.0	97.0	94.0					20																	47860346		2203	4300	6503	SO:0001627	intron_variant	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2373-7C>T	20.37:g.47860346C>T			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	RNA	SNP	-	NULL	ENST00000371764.4	37	NULL	CCDS13416.1	20																																																																																			DDX27	-	-		0.463	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	C			47860346	+1	no_errors	ENST00000471144	ensembl	human	known	70_37	rna	SNP	0.000	T
DDX28	55794	genome.wustl.edu	37	16	68057079	68057079	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:68057079G>C	ENST00000332395.5	-	1	691	c.27C>G	c.(25-27)ctC>ctG	p.L9L	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	9						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CGAGGGAAAAGAGCCGCACCG	0.682																																																	0													17.0	17.0	17.0					16																	68057079		2133	4157	6290	SO:0001819	synonymous_variant	55794			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.27C>G	16.37:g.68057079G>C				Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L9	ENST00000332395.5	37	c.27	CCDS10858.1	16																																																																																			DDX28	-	NULL		0.682	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	G	NM_018380		68057079	-1	no_errors	ENST00000332395	ensembl	human	known	70_37	silent	SNP	0.000	C
DDX54	79039	genome.wustl.edu	37	12	113618744	113618744	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113618744G>A	ENST00000306014.5	-	2	321	c.294C>T	c.(292-294)ttC>ttT	p.F98F	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Silent_p.F98F	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	98					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGGACTGGAAGCCTCCAG	0.612																																																	0													93.0	91.0	92.0					12																	113618744		2203	4300	6503	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.294C>T	12.37:g.113618744G>A			Q86YT8|Q9BRZ1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.F98	ENST00000306014.5	37	c.294	CCDS31907.1	12																																																																																			DDX54	-	pfscan_RNA_helicase_DEAD_Q_motif		0.612	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	G	NM_024072		113618744	-1	no_errors	ENST00000314045	ensembl	human	known	70_37	silent	SNP	1.000	A
DEFB114	245928	genome.wustl.edu	37	6	49928006	49928006	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:49928006C>G	ENST00000322066.3	-	2	208	c.209G>C	c.(208-210)tGa>tCa	p.*70S		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	0					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					CCTTTCTTTTCAAAACATATC	0.328																																																	0													83.0	77.0	79.0					6																	49928006		2203	4299	6502	SO:0001578	stop_lost	245928			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.209G>C	6.37:g.49928006C>G			Q8NES9	Nonstop_Mutation	SNP	NULL	p.*70S	ENST00000322066.3	37	c.209	CCDS34474.1	6	.	.	.	.	.	.	.	.	.	.	C	3.162	-0.171949	0.06421	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.55	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0897	0.09963	0.23:0.6469:0.0:0.1231	.	.	.	.	S	70	.	.	X	-	2	2	DEFB114	50035965	0.539000	0.26402	0.002000	0.10522	0.002000	0.02628	0.085000	0.14912	0.449000	0.26747	-0.145000	0.13849	TGA	DEFB114	-	NULL		0.328	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB114	HGNC	protein_coding	OTTHUMT00000359665.1	C	NM_001037499		49928006	-1	no_errors	ENST00000322066	ensembl	human	known	70_37	nonstop	SNP	0.018	G
DENND4C	55667	genome.wustl.edu	37	9	19300283	19300283	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:19300283C>T	ENST00000380432.2	+	5	590	c.557C>T	c.(556-558)tCt>tTt	p.S186F	DENND4C_ENST00000602925.1_Missense_Mutation_p.S422F|DENND4C_ENST00000434457.2_Missense_Mutation_p.S422F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	186	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGCTGCATTCTCTTAGGCCA	0.398																																																	0													171.0	151.0	158.0					9																	19300283		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.557C>T	9.37:g.19300283C>T	ENSP00000369797:p.Ser186Phe		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S186F	ENST00000380432.2	37	c.557		9	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748110	0.89663	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.08	5.08	0.68730	DENN (3);	0.000000	0.85682	D	0.000000	D	0.90259	0.6954	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93291	0.6668	9	0.87932	D	0	-21.0317	19.022	0.92919	0.0:1.0:0.0:0.0	.	186	Q5VZ89	DEN4C_HUMAN	F	186	.	ENSP00000369802:S186F	S	+	2	0	DENND4C	19290283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.609000	0.82925	2.799000	0.96334	0.585000	0.79938	TCT	DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.398	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19300283	+1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	T
DENND4C	55667	genome.wustl.edu	37	9	19336796	19336796	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:19336796C>T	ENST00000380432.2	+	15	2059				DENND4C_ENST00000602925.1_Intron|DENND4C_ENST00000434457.2_Silent_p.I949I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C						cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGATTTAATCAGGCTTGAGT	0.413																																																	0																																										SO:0001627	intron_variant	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2026+384C>T	9.37:g.19336796C>T			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	NULL	p.I140	ENST00000380432.2	37	c.420		9																																																																																			DENND4C	-	NULL		0.413	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19336796	+1	no_errors	ENST00000307015	ensembl	human	known	70_37	silent	SNP	1.000	T
DESI2	51029	genome.wustl.edu	37	1	244852595	244852595	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:244852595G>A	ENST00000302550.11	+	3	539	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	54	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										TGGAATATTTGAAATTTCCCC	0.328																																																	0													92.0	102.0	99.0					1																	244852595		2203	4295	6498	SO:0001583	missense	51029			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.160G>A	1.37:g.244852595G>A	ENSP00000306528:p.Glu54Lys		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	pfam_DUF862_euk	p.E54K	ENST00000302550.11	37	c.160	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.721971	0.96839	.	.	ENSG00000121644	ENST00000302550;ENST00000418162	.	.	.	6.17	6.17	0.99709	Domain of unknown function DUF862, eukaryotic (1);	0.041302	0.85682	D	0.000000	D	0.83626	0.5295	M	0.86097	2.795	0.80722	D	1	D	0.61080	0.989	D	0.66979	0.948	T	0.79647	-0.1716	9	0.27785	T	0.31	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	54	Q9BSY9	PPDE1_HUMAN	K	54;71	.	ENSP00000306528:E54K	E	+	1	0	PPPDE1	242919218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.947000	0.93000	2.941000	0.99782	0.655000	0.94253	GAA	DESI2	-	pfam_DUF862_euk		0.328	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DESI2	HGNC	protein_coding	OTTHUMT00000097168.1	G	NM_016076		244852595	+1	no_errors	ENST00000302550	ensembl	human	known	70_37	missense	SNP	1.000	A
DFNB31	25861	genome.wustl.edu	37	9	117165054	117165054	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165054C>G	ENST00000362057.3	-	12	2872	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q	DFNB31_ENST00000374059.3_Missense_Mutation_p.E551Q|DFNB31_ENST00000265134.6_Missense_Mutation_p.E519Q	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	902					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACATTGAACTCAGTGACCAGA	0.602																																																	0													87.0	82.0	83.0					9																	117165054		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2704G>C	9.37:g.117165054C>G	ENSP00000354623:p.Glu902Gln		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E902Q	ENST00000362057.3	37	c.2704	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773763	0.90108	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.15372	3.4;3.34;2.43	4.69	4.69	0.59074	PDZ/DHR/GLGF (2);	0.062773	0.64402	D	0.000008	T	0.41994	0.1183	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.987;0.987;0.988	T	0.39292	-0.9621	10	0.72032	D	0.01	-28.0009	17.9846	0.89152	0.0:1.0:0.0:0.0	.	901;902;551	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	Q	519;551;902	ENSP00000265134:E519Q;ENSP00000363172:E551Q;ENSP00000354623:E902Q	ENSP00000265134:E519Q	E	-	1	0	DFNB31	116204875	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	7.107000	0.77047	2.293000	0.77203	0.651000	0.88453	GAG	DFNB31	-	superfamily_PDZ,smart_PDZ		0.602	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117165054	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	1.000	G
DFNB31	25861	genome.wustl.edu	37	9	117165217	117165217	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165217C>T	ENST00000362057.3	-	12	2710		c.e12-1		DFNB31_ENST00000374059.3_Splice_Site|DFNB31_ENST00000265134.6_Splice_Site	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCGCCTCTCTGCAGGGAGG	0.627																																																	0													24.0	21.0	22.0					9																	117165217		2203	4300	6503	SO:0001630	splice_region_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2542-1G>A	9.37:g.117165217C>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Splice_Site	SNP	-	e12-1	ENST00000362057.3	37	c.2542-1	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966626	0.74131	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1172	0.89559	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DFNB31	116205038	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.109000	0.77062	2.323000	0.78572	0.655000	0.94253	.	DFNB31	-	-		0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404	Intron	117165217	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DFNB31	25861	genome.wustl.edu	37	9	117165578	117165578	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117165578C>T	ENST00000362057.3	-	11	2628	c.2460G>A	c.(2458-2460)aaG>aaA	p.K820K	DFNB31_ENST00000374059.3_Silent_p.K469K|DFNB31_ENST00000265134.6_Silent_p.K437K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	820	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGCACTTTTCTTCACACGGA	0.637																																																	0													57.0	61.0	60.0					9																	117165578		2203	4300	6503	SO:0001819	synonymous_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2460G>A	9.37:g.117165578C>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K820	ENST00000362057.3	37	c.2460	CCDS6806.1	9																																																																																			DFNB31	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117165578	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	silent	SNP	0.989	T
DFNB31	25861	genome.wustl.edu	37	9	117240927	117240927	+	Missense_Mutation	SNP	G	G	A	rs141863996		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:117240927G>A	ENST00000362057.3	-	2	911	c.743C>T	c.(742-744)tCg>tTg	p.S248L	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S248L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	248					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S248L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCAGGCCCGAGGGTGGGGA	0.662																																																	1	Substitution - Missense(1)	urinary_tract(1)						G	,LEU/SER,LEU/SER	0,4406		0,0,2203	31.0	31.0	31.0		,743,743	3.5	0.0	9	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	yes	utr-5,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	,145,145	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,248/907,248/908	117240927	1,13003	2203	4299	6502	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.743C>T	9.37:g.117240927G>A	ENSP00000354623:p.Ser248Leu		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S248L	ENST00000362057.3	37	c.743	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865656	0.32977	0.0	1.16E-4	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.17213	3.02;2.29	5.41	3.47	0.39725	.	0.514979	0.20773	N	0.085934	T	0.10294	0.0252	L	0.36672	1.1	0.09310	N	1	P;B;B	0.44816	0.844;0.242;0.157	B;B;B	0.30316	0.114;0.023;0.023	T	0.27571	-1.0070	10	0.44086	T	0.13	-6.6304	10.453	0.44533	0.0773:0.2373:0.6854:0.0	.	248;248;248	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	L	248	ENSP00000354623:S248L;ENSP00000363170:S248L	ENSP00000354623:S248L	S	-	2	0	DFNB31	116280748	0.112000	0.22096	0.030000	0.17652	0.654000	0.38779	2.686000	0.46968	2.533000	0.85409	0.455000	0.32223	TCG	DFNB31	-	NULL		0.662	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117240927	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	0.002	A
DGKG	1608	genome.wustl.edu	37	3	185986688	185986688	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:185986688C>A	ENST00000265022.3	-	12	1557	c.1018G>T	c.(1018-1020)Gtg>Ttg	p.V340L	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V340L|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	340					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTCCCTTCCACCCATGCGTGC	0.617																																																	0													82.0	61.0	68.0					3																	185986688		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1018G>T	3.37:g.185986688C>A	ENSP00000265022:p.Val340Leu		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V340L	ENST00000265022.3	37	c.1018	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804520	0.31869	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84660	-1.88;-1.88;-1.88	5.16	4.27	0.50696	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.120544	0.53938	D	0.000056	T	0.79953	0.4535	L	0.39147	1.195	0.80722	D	1	P;P	0.45986	0.575;0.87	B;B	0.43194	0.396;0.411	T	0.81208	-0.1037	10	0.56958	D	0.05	.	10.8492	0.46761	0.0:0.8558:0.0:0.1442	.	340;340	P49619-2;P49619	.;DGKG_HUMAN	L	340;340;91	ENSP00000265022:V340L;ENSP00000339777:V340L;ENSP00000395526:V91L	ENSP00000265022:V340L	V	-	1	0	DGKG	187469382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.553000	0.36255	2.590000	0.87494	0.563000	0.77884	GTG	DGKG	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.617	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	C			185986688	-1	no_errors	ENST00000265022	ensembl	human	known	70_37	missense	SNP	1.000	A
DHRS9	10170	genome.wustl.edu	37	2	169952147	169952147	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:169952147C>G	ENST00000327239.4	+	8	2334	c.830C>G	c.(829-831)cCt>cGt	p.P277R	DHRS9_ENST00000412271.1_Missense_Mutation_p.P277R|DHRS9_ENST00000436483.2_Missense_Mutation_p.P277R|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337R|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277R|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130R|DHRS9_ENST00000602501.1_Missense_Mutation_p.P277R|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277R	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	277					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTCTTCCCTAAGACTCAT	0.423																																																	0													135.0	130.0	132.0					2																	169952147		2203	4300	6503	SO:0001583	missense	10170			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.830C>G	2.37:g.169952147C>G	ENSP00000316670:p.Pro277Arg		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P337R	ENST00000327239.4	37	c.1010	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747057	0.89663	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	H	0.94542	3.55	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97868	1.0284	10	0.87932	D	0	.	19.936	0.97142	0.0:1.0:0.0:0.0	.	337;277	B7Z416;Q9BPW9	.;DHRS9_HUMAN	R	277;277;337;277;130;277;277	ENSP00000316670:P277R;ENSP00000350154:P277R;ENSP00000389241:P337R;ENSP00000388564:P277R;ENSP00000388066:P130R;ENSP00000407167:P277R;ENSP00000407747:P277R	ENSP00000316670:P277R	P	+	2	0	DHRS9	169660393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.581000	0.67471	2.814000	0.96858	0.655000	0.94253	CCT	DHRS9	-	NULL		0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	C	NM_005771		169952147	+1	no_errors	ENST00000432060	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX29	54505	genome.wustl.edu	37	5	54591326	54591326	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:54591326C>T	ENST00000251636.5	-	5	680	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	178						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTTCAAATTCCTGACTGAAT	0.333																																																	0													112.0	111.0	111.0					5																	54591326		2203	4300	6503	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.532G>A	5.37:g.54591326C>T	ENSP00000251636:p.Glu178Lys		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E178K	ENST00000251636.5	37	c.532	CCDS34158.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.232609|3.232609	0.58777|0.58777	.|.	.|.	ENSG00000067248|ENSG00000067248	ENST00000251636|ENST00000508346	T|.	0.43294|.	0.95|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.140216|.	0.64402|.	D|.	0.000004|.	T|T	0.44644|0.44644	0.1303|0.1303	N|N	0.16478|0.16478	0.41|0.41	0.37591|0.37591	D|D	0.920179|0.920179	B|.	0.14438|.	0.01|.	B|.	0.06405|.	0.002|.	T|T	0.43925|0.43925	-0.9361|-0.9361	10|5	0.20519|.	T|.	0.43|.	.|.	14.5428|14.5428	0.68008|0.68008	0.0:0.7465:0.2535:0.0|0.0:0.7465:0.2535:0.0	.|.	178|.	Q7Z478|.	DHX29_HUMAN|.	K|E	178|142	ENSP00000251636:E178K|.	ENSP00000251636:E178K|.	E|G	-|-	1|2	0|0	DHX29|DHX29	54627083|54627083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.537000|3.537000	0.53590|0.53590	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAA|GGA	DHX29	-	NULL		0.333	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	C	NM_019030		54591326	-1	no_errors	ENST00000251636	ensembl	human	known	70_37	missense	SNP	1.000	T
DHX32	55760	genome.wustl.edu	37	10	127529516	127529516	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:127529516C>G	ENST00000284690.3	-	8	2083	c.1593G>C	c.(1591-1593)ttG>ttC	p.L531F	DHX32_ENST00000368721.1_Missense_Mutation_p.L155F|DHX32_ENST00000284688.6_Missense_Mutation_p.L450F|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|AL360176.1_ENST00000401153.1_RNA	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	531						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCAACAAGTCAAGGCAGCCT	0.403																																																	0													126.0	105.0	112.0					10																	127529516		2203	4300	6503	SO:0001583	missense	55760				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1593G>C	10.37:g.127529516C>G	ENSP00000284690:p.Leu531Phe		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L531F	ENST00000284690.3	37	c.1593	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598880	0.13939	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.29142	1.58;1.58;1.58	4.66	4.66	0.58398	Helicase-associated domain (2);	1.482540	0.03918	N	0.283005	T	0.31104	0.0786	L	0.41632	1.29	0.09310	N	1	B	0.30193	0.272	B	0.34536	0.185	T	0.29212	-1.0019	10	0.87932	D	0	-0.9263	5.8617	0.18752	0.1919:0.7124:0.0:0.0958	.	531	Q7L7V1	DHX32_HUMAN	F	155;531;450	ENSP00000357710:L155F;ENSP00000284690:L531F;ENSP00000284688:L450F	ENSP00000284688:L450F	L	-	3	2	DHX32	127519506	0.000000	0.05858	0.033000	0.17914	0.807000	0.45602	0.252000	0.18278	2.413000	0.81919	0.655000	0.94253	TTG	DHX32	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom		0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	C	NM_018180		127529516	-1	no_errors	ENST00000284690	ensembl	human	known	70_37	missense	SNP	0.007	G
DIDO1	11083	genome.wustl.edu	37	20	61526236	61526236	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:61526236C>T	ENST00000266070.4	-	10	2687	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DIDO1_ENST00000395340.1_Missense_Mutation_p.E788K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E788K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E788K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	788	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCTTGCTTTCATTGTGCAGT	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													76.0	85.0	81.0					20																	61526236		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2362G>A	20.37:g.61526236C>T	ENSP00000266070:p.Glu788Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E788K	ENST00000266070.4	37	c.2362	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835977	0.71373	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13901	2.88;2.88;2.55;2.55	5.63	5.63	0.86233	Transcription elongation factor S-II, central domain (1);	0.000000	0.44097	D	0.000497	T	0.28333	0.0700	M	0.65498	2.005	0.80722	D	1	P;P	0.49559	0.925;0.89	P;B	0.49752	0.621;0.318	T	0.00565	-1.1668	10	0.49607	T	0.09	-25.9814	19.6825	0.95970	0.0:1.0:0.0:0.0	.	788;788	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	788	ENSP00000266070:E788K;ENSP00000378752:E788K;ENSP00000378749:E788K;ENSP00000378744:E788K	ENSP00000266070:E788K	E	-	1	0	DIDO1	60996681	0.999000	0.42202	0.037000	0.18230	0.421000	0.31385	5.294000	0.65687	2.659000	0.90383	0.561000	0.74099	GAA	DIDO1	-	NULL		0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61526236	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.946	T
DIP2A	23181	genome.wustl.edu	37	21	47987458	47987458	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:47987458G>A	ENST00000417564.2	+	38	4660	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.E1543K|DIP2A_ENST00000318711.7_Missense_Mutation_p.E1548K			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1547					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCTCGGGGTGAGAAGCAGCG	0.637																																																	0													87.0	98.0	94.0					21																	47987458		2203	4300	6503	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4639G>A	21.37:g.47987458G>A	ENSP00000392066:p.Glu1547Lys		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E1548K	ENST00000417564.2	37	c.4642	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	36	5.607046	0.96626	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.01234	5.13;5.13;5.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.04768	-0.165	0.80722	D	1	P;D	0.54964	0.813;0.969	P;D	0.63877	0.754;0.919	T	0.75436	-0.3318	10	0.10377	T	0.69	-36.4283	18.5143	0.90930	0.0:0.0:1.0:0.0	.	1548;1547	E9PER1;Q14689	.;DIP2A_HUMAN	K	1543;1548;1547	ENSP00000383133:E1543K;ENSP00000323633:E1548K;ENSP00000392066:E1547K	ENSP00000323633:E1548K	E	+	1	0	DIP2A	46811886	1.000000	0.71417	0.984000	0.44739	0.893000	0.52053	9.627000	0.98412	2.632000	0.89209	0.655000	0.94253	GAG	DIP2A	-	NULL		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47987458	+1	no_errors	ENST00000318711	ensembl	human	known	70_37	missense	SNP	1.000	A
DIP2C	22982	genome.wustl.edu	37	10	402355	402355	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:402355C>G	ENST00000280886.6	-	24	3073				DIP2C_ENST00000540204.1_Missense_Mutation_p.G320A|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)							nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGGCCAGCTCCGCGCCTCAC	0.577																																																	0													97.0	92.0	93.0					10																	402355		2202	4300	6502	SO:0001627	intron_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2985+10G>C	10.37:g.402355C>G			B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G320A	ENST00000280886.6	37	c.959	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291342	0.01375	.	.	ENSG00000151240	ENST00000540204	T	0.53857	0.6	3.93	-1.51	0.08664	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	8	0.02654	T	1	.	1.2587	0.01997	0.1436:0.3763:0.1968:0.2832	.	320	B4DPI5	.	A	320	ENSP00000443826:G320A	ENSP00000443826:G320A	G	-	2	0	DIP2C	392355	0.392000	0.25229	0.000000	0.03702	0.002000	0.02628	-0.104000	0.10923	-0.189000	0.10482	0.557000	0.71058	GGA	DIP2C	-	NULL		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	C	NM_014974		402355	-1	no_errors	ENST00000540204	ensembl	human	known	70_37	missense	SNP	0.000	G
DLEC1	9940	genome.wustl.edu	37	3	38136487	38136487	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38136487C>A	ENST00000308059.6	+	13	2058	c.2037C>A	c.(2035-2037)ttC>ttA	p.F679L	DLEC1_ENST00000346219.3_Missense_Mutation_p.F679L|DLEC1_ENST00000452631.2_Missense_Mutation_p.F679L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGACTGCCTTCTCCATCATGC	0.537																																																	0													85.0	92.0	90.0					3																	38136487		2045	4200	6245	SO:0001583	missense	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2037C>A	3.37:g.38136487C>A	ENSP00000308597:p.Phe679Leu			Missense_Mutation	SNP	superfamily_PapD-like	p.F679L	ENST00000308059.6	37	c.2037	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744989	0.69418	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.20069	2.11;2.1;2.34	5.39	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.77820	2.39	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.40757	-0.9546	10	0.56958	D	0.05	-23.8158	10.2894	0.43586	0.0:0.8366:0.0:0.1634	.	679;679;679	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	L	679	ENSP00000308597:F679L;ENSP00000315914:F679L;ENSP00000410427:F679L	ENSP00000308597:F679L	F	+	3	2	DLEC1	38111491	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.142000	0.58044	1.256000	0.44068	0.655000	0.94253	TTC	DLEC1	-	NULL		0.537	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38136487	+1	no_errors	ENST00000346219	ensembl	human	known	70_37	missense	SNP	0.999	A
DLEC1	9940	genome.wustl.edu	37	3	38136538	38136538	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38136538C>T	ENST00000308059.6	+	13	2109	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	DLEC1_ENST00000346219.3_Silent_p.F696F|DLEC1_ENST00000452631.2_Silent_p.F696F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACCACGAGTTCATCCTGAGCT	0.517																																																	0													80.0	87.0	85.0					3																	38136538		2018	4184	6202	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2088C>T	3.37:g.38136538C>T				Silent	SNP	superfamily_PapD-like	p.F696	ENST00000308059.6	37	c.2088	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.517	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38136538	+1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	1.000	T
DIRC2	84925	genome.wustl.edu	37	3	122545852	122545852	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:122545852C>T	ENST00000261038.5	+	3	1041	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	215					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATCACCTCTTCTTGCTGCAGA	0.428																																																	0													135.0	121.0	126.0					3																	122545852		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.643C>T	3.37:g.122545852C>T	ENSP00000261038:p.Leu215Phe		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L215F	ENST00000261038.5	37	c.643	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109257	0.06924	.	.	ENSG00000138463	ENST00000261038	D	0.91996	-2.95	5.89	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);	0.473238	0.24841	N	0.035177	D	0.86188	0.5873	L	0.40543	1.245	0.45097	D	0.998117	B	0.09022	0.002	B	0.11329	0.006	T	0.77332	-0.2627	10	0.08599	T	0.76	.	11.7994	0.52118	0.0:0.8571:0.0:0.1429	.	215	Q96SL1	DIRC2_HUMAN	F	215	ENSP00000261038:L215F	ENSP00000261038:L215F	L	+	1	0	DIRC2	124028542	0.494000	0.26043	0.990000	0.47175	0.498000	0.33706	1.571000	0.36450	0.863000	0.35553	-0.143000	0.13931	CTT	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.428	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	C	NM_032839		122545852	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	0.814	T
DLG5	9231	genome.wustl.edu	37	10	79569395	79569395	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:79569395C>G	ENST00000372391.2	-	24	4562	c.4557G>C	c.(4555-4557)ggG>ggC	p.G1519G	DLG5_ENST00000372388.2_Silent_p.G1179G|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1519	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CATGCAGGTTCCCACCACACA	0.587																																																	0													189.0	186.0	187.0					10																	79569395		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4557G>C	10.37:g.79569395C>G			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G1519	ENST00000372391.2	37	c.4557	CCDS7353.2	10																																																																																			DLG5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.587	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79569395	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	G
DMBT1	1755	genome.wustl.edu	37	10	124390767	124390767	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:124390767C>T	ENST00000338354.3	+	46	6035	c.5929C>T	c.(5929-5931)Cat>Tat	p.H1977Y	DMBT1_ENST00000344338.3_Missense_Mutation_p.H1967Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1977Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.H1349Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1967Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1349Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H697Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1977	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAACTGTAATCATCGTGAAGA	0.542																																					Ovarian(182;93 2026 18125 22222 38972)												0													149.0	144.0	146.0					10																	124390767		2062	4204	6266	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5929C>T	10.37:g.124390767C>T	ENSP00000342210:p.His1977Tyr		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.H2106Y	ENST00000338354.3	37	c.6316		10	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385319	0.61956	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.56	5.56	0.83823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.72534	0.3472	H	0.94658	3.565	0.51482	D	0.99992	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.994;0.99;0.97	D;D;D;D;P;D;P	0.91635	0.999;0.995;0.999;0.999;0.769;0.98;0.89	T	0.80301	-0.1440	9	0.66056	D	0.02	.	19.6051	0.95577	0.0:1.0:0.0:0.0	.	697;1957;1226;2106;1349;1967;1977	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	1977;2106;1977;1977;1977;1977;1349;1967;1349;1349;1977;1967;1349;123;697	ENSP00000342210:H1977Y;ENSP00000343175:H1967Y;ENSP00000327747:H1349Y;ENSP00000357905:H1977Y;ENSP00000357951:H1967Y;ENSP00000357952:H1349Y;ENSP00000352593:H697Y	ENSP00000331522:H1349Y	H	+	1	0	DMBT1	124380757	1.000000	0.71417	0.095000	0.20976	0.007000	0.05969	5.826000	0.69293	2.619000	0.88677	0.650000	0.86243	CAT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	C	NM_004406		124390767	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAAF2	55172	genome.wustl.edu	37	14	50101007	50101007	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:50101007G>A	ENST00000298292.8	-	1	941	c.861C>T	c.(859-861)atC>atT	p.I287I	DNAAF2_ENST00000406043.3_Silent_p.I287I	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	287					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GCGGCAGTTCGATGGTGATCA	0.657																																																	0													20.0	23.0	22.0					14																	50101007		2096	4178	6274	SO:0001819	synonymous_variant	55172			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.861C>T	14.37:g.50101007G>A			B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	pfam_PIH	p.I287	ENST00000298292.8	37	c.861	CCDS9691.2	14																																																																																			DNAAF2	-	pfam_PIH		0.657	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	G			50101007	-1	no_errors	ENST00000298292	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH1	25981	genome.wustl.edu	37	3	52397041	52397041	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:52397041C>G	ENST00000420323.2	+	32	5386	c.5125C>G	c.(5125-5127)Cca>Gca	p.P1709A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1709	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATGATGGTTCCAGATTACGC	0.542																																																	0													195.0	199.0	197.0					3																	52397041		2128	4252	6380	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5125C>G	3.37:g.52397041C>G	ENSP00000401514:p.Pro1709Ala		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.P1709A	ENST00000420323.2	37	c.5125	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935416	0.92458	.	.	ENSG00000114841	ENST00000420323	T	0.53206	0.63	4.93	4.93	0.64822	.	0.000000	0.52532	D	0.000063	T	0.81678	0.4873	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89202	0.3558	10	0.87932	D	0	.	18.3189	0.90231	0.0:1.0:0.0:0.0	.	1709	C9JXH6	.	A	1709	ENSP00000401514:P1709A	ENSP00000401514:P1709A	P	+	1	0	DNAH1	52372081	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.651000	0.83577	2.574000	0.86865	0.655000	0.94253	CCA	DNAH1	-	NULL		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52397041	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7695367	7695367	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7695367G>A	ENST00000572933.1	+	45	8493	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2345K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2345					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGAGAGATCGAGGGCTCCTT	0.562																																																	0													127.0	108.0	115.0					17																	7695367		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7033G>A	17.37:g.7695367G>A	ENSP00000458355:p.Glu2345Lys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E2345K	ENST00000572933.1	37	c.7033	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.373342	0.95923	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22945	1.93	4.98	4.98	0.66077	.	0.064020	0.64402	D	0.000014	T	0.36193	0.0958	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.02294	-1.1181	10	0.15952	T	0.53	.	17.1946	0.86890	0.0:0.0:1.0:0.0	.	2345	Q9P225	DYH2_HUMAN	K	2345	ENSP00000373825:E2345K	ENSP00000353818:E2345K	E	+	1	0	DNAH2	7636092	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.450000	0.90340	2.581000	0.87130	0.643000	0.83706	GAG	DNAH2	-	NULL		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7695367	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH2	146754	genome.wustl.edu	37	17	7721144	7721144	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7721144G>C	ENST00000572933.1	+	67	11666	c.10206G>C	c.(10204-10206)ctG>ctC	p.L3402L	DNAH2_ENST00000389173.2_Silent_p.L3402L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3402	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAGGCCCTGAAATGGATTA	0.632																																																	0													52.0	49.0	50.0					17																	7721144		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10206G>C	17.37:g.7721144G>C			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L3402	ENST00000572933.1	37	c.10206	CCDS32551.1	17																																																																																			DNAH2	-	NULL		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7721144	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	0.998	C
DNAH17	8632	genome.wustl.edu	37	17	76482068	76482068	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:76482068C>G	ENST00000585328.1	-	46	7358	c.7234G>C	c.(7234-7236)Gag>Cag	p.E2412Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E2403Q|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2403	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGATCCAGCTCAAAGGAGGGC	0.522																																																	0													81.0	78.0	79.0					17																	76482068		1955	4138	6093	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7234G>C	17.37:g.76482068C>G	ENSP00000465516:p.Glu2412Gln		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.E2403Q	ENST00000585328.1	37	c.7207		17	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586049	0.28268	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.49139	0.79	4.42	3.42	0.39159	.	.	.	.	.	T	0.52419	0.1733	L	0.59967	1.855	0.34007	D	0.650964	.	.	.	.	.	.	T	0.60954	-0.7160	7	0.30854	T	0.27	.	11.3166	0.49396	0.0:0.8491:0.0:0.1509	.	.	.	.	Q	2412;2403	ENSP00000374490:E2403Q	ENSP00000300671:E2412Q	E	-	1	0	DNAH17	73993663	0.974000	0.33945	0.987000	0.45799	0.121000	0.20230	2.268000	0.43338	2.302000	0.77476	0.561000	0.74099	GAG	DNAH17	-	NULL		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	C	NM_173628		76482068	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	21156659	21156659	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:21156659G>A	ENST00000261383.3	-	3	290	c.291C>T	c.(289-291)ttC>ttT	p.F97F	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.F97F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	97	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGTTCTTTGAAGGGTGCAG	0.522																																																	0													183.0	137.0	152.0					16																	21156659		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.291C>T	16.37:g.21156659G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.F97	ENST00000261383.3	37	c.291	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21156659	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAI2	64446	genome.wustl.edu	37	17	72278037	72278037	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72278037G>C	ENST00000311014.6	+	2	148	c.81G>C	c.(79-81)ctG>ctC	p.L27L	DNAI2_ENST00000579490.1_Silent_p.L84L|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Silent_p.L27L|DNAI2_ENST00000446837.2_Silent_p.L27L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	27					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCCGAGCTGAACATCGACA	0.612									Kartagener syndrome																																								0													152.0	127.0	136.0					17																	72278037		2203	4300	6503	SO:0001819	synonymous_variant	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.81G>C	17.37:g.72278037G>C			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L27	ENST00000311014.6	37	c.81	CCDS11697.1	17																																																																																			DNAI2	-	NULL		0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72278037	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	silent	SNP	1.000	C
DNAI2	64446	genome.wustl.edu	37	17	72278137	72278137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72278137G>T	ENST00000311014.6	+	2	248	c.181G>T	c.(181-183)Gag>Tag	p.E61*	DNAI2_ENST00000579490.1_Nonsense_Mutation_p.E118*|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.E61*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.E61*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	61					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCGGAACACGAGGTGGGTCC	0.652									Kartagener syndrome																																								0													77.0	69.0	72.0					17																	72278137		2203	4300	6503	SO:0001587	stop_gained	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.181G>T	17.37:g.72278137G>T	ENSP00000308312:p.Glu61*		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E61*	ENST00000311014.6	37	c.181	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.872496	0.97901	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	.	.	.	5.22	5.22	0.72569	.	0.226336	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-47.1684	19.0368	0.92982	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000308312:E61X	E	+	1	0	DNAI2	69789732	1.000000	0.71417	0.975000	0.42487	0.308000	0.27856	5.260000	0.65490	2.731000	0.93534	0.644000	0.83932	GAG	DNAI2	-	NULL		0.652	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72278137	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	nonsense	SNP	0.996	T
DNAI2	64446	genome.wustl.edu	37	17	72283200	72283200	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72283200G>C	ENST00000311014.6	+	4	497	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	DNAI2_ENST00000579490.1_Missense_Mutation_p.E201Q|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Missense_Mutation_p.E144Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.E144Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	144					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAAGTGATGGAGGAGGACCC	0.532									Kartagener syndrome																																								0													158.0	113.0	128.0					17																	72283200		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.430G>C	17.37:g.72283200G>C	ENSP00000308312:p.Glu144Gln		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E144Q	ENST00000311014.6	37	c.430	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	G	7.280	0.608991	0.14066	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.19532	2.14;2.14	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);	0.457273	0.26432	N	0.024411	T	0.24470	0.0593	L	0.57536	1.79	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.05920	-1.0856	10	0.19147	T	0.46	-9.5734	18.6491	0.91423	0.0:0.0:1.0:0.0	.	144	Q9GZS0	DNAI2_HUMAN	Q	144	ENSP00000308312:E144Q;ENSP00000400252:E144Q	ENSP00000308312:E144Q	E	+	1	0	DNAI2	69794795	1.000000	0.71417	0.101000	0.21167	0.014000	0.08584	5.202000	0.65169	2.632000	0.89209	0.586000	0.80456	GAG	DNAI2	-	NULL		0.532	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	G	NM_023036		72283200	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.961	C
DNAJB5	25822	genome.wustl.edu	37	9	34997162	34997162	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34997162G>A	ENST00000541010.1	+	3	3965	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	DNAJB5_ENST00000453597.3_Missense_Mutation_p.R432Q|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R390Q|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R318Q|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R352Q|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R318Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	318					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)	p.R318Q(1)		kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAACTCAGCGAGGAGACCTC	0.542																																																	1	Substitution - Missense(1)	lung(1)											136.0	132.0	133.0					9																	34997162		2203	4300	6503	SO:0001583	missense	25822			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.953G>A	9.37:g.34997162G>A	ENSP00000443151:p.Arg318Gln		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R390Q	ENST00000541010.1	37	c.1169	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.385466	0.95967	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.27	5.27	0.74061	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.055792	0.64402	N	0.000001	T	0.75686	0.3883	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.957	T	0.81278	-0.1005	10	0.87932	D	0	.	18.0653	0.89389	0.0:0.0:1.0:0.0	.	390;318	B4DSA6;O75953	.;DNJB5_HUMAN	Q	432;352;318;318;318;390;318	ENSP00000404079:R432Q;ENSP00000337626:R352Q;ENSP00000312517:R318Q;ENSP00000443151:R318Q;ENSP00000413684:R390Q;ENSP00000441999:R318Q	ENSP00000312517:R318Q	R	+	2	0	DNAJB5	34987162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.758000	0.94735	0.561000	0.74099	CGA	DNAJB5	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd		0.542	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	G			34997162	+1	no_errors	ENST00000454002	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAJC11	55735	genome.wustl.edu	37	1	6694728	6694728	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:6694728C>T	ENST00000377577.5	-	0	2810				DNAJC11_ENST00000465508.1_5'UTR|THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000349363.6_Missense_Mutation_p.C272Y	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCCGCTGCATTCTGCATC	0.637											OREG0013046	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	28.0	28.0					1																	6694728		876	1991	2867	SO:0001624	3_prime_UTR_variant	55735			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.*1007G>A	1.37:g.6694728C>T		636	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.C272Y	ENST00000377577.5	37	c.815	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	C	8.951	0.968293	0.18659	.	.	ENSG00000007923	ENST00000451196;ENST00000349363	T;T	0.38887	1.54;1.11	2.81	-5.62	0.02481	.	.	.	.	.	T	0.20740	0.0499	.	.	.	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	8	0.39692	T	0.17	.	0.2293	0.00178	0.3024:0.2377:0.1374:0.3225	.	286	Q5TH61	.	Y	286;272	ENSP00000415871:C286Y;ENSP00000326304:C272Y	ENSP00000326304:C272Y	C	-	2	0	DNAJC11	6617315	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.180000	0.00569	-2.074000	0.00877	0.462000	0.41574	TGC	DNAJC11	-	NULL		0.637	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	C	NM_018198		6694728	-1	no_errors	ENST00000349363	ensembl	human	known	70_37	missense	SNP	0.000	T
DNMT1	1786	genome.wustl.edu	37	19	10254660	10254660	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:10254660G>C	ENST00000340748.4	-	28	3085	c.2850C>G	c.(2848-2850)atC>atG	p.I950M	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.I966M|DNMT1_ENST00000540357.1_Missense_Mutation_p.I950M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	950					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGGACAGCTTGATGCTGCAGA	0.517																																																	0													125.0	110.0	115.0					19																	10254660		2203	4300	6503	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2850C>G	19.37:g.10254660G>C	ENSP00000345739:p.Ile950Met		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.I966M	ENST00000340748.4	37	c.2898	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006114	0.35415	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.24723	1.84;1.84;1.84	5.68	0.672	0.17935	Bromo adjacent homology (BAH) domain (2);	0.236807	0.43260	D	0.000594	T	0.11410	0.0278	N	0.05510	-0.035	0.37398	D	0.912736	B;B;B	0.31383	0.171;0.321;0.205	B;B;B	0.31547	0.055;0.132;0.091	T	0.15093	-1.0449	10	0.48119	T	0.1	.	7.8695	0.29556	0.165:0.2708:0.5641:0.0	.	950;966;950	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	966;950;950;818	ENSP00000352516:I966M;ENSP00000440457:I950M;ENSP00000345739:I950M	ENSP00000345739:I950M	I	-	3	3	DNMT1	10115660	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.847000	0.27696	0.745000	0.32763	0.655000	0.94253	ATC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom		0.517	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10254660	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	missense	SNP	1.000	C
DOC2A	8448	genome.wustl.edu	37	16	30018395	30018395	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30018395G>C	ENST00000350119.4	-	7	861	c.671C>G	c.(670-672)tCc>tGc	p.S224C	DOC2A_ENST00000564944.1_Missense_Mutation_p.S224C|DOC2A_ENST00000564979.1_Missense_Mutation_p.S224C	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	224	Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CGCTGACATGGAAGAGGGGGA	0.677																																																	0													31.0	32.0	32.0					16																	30018395		2196	4299	6495	SO:0001583	missense	8448			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.671C>G	16.37:g.30018395G>C	ENSP00000340017:p.Ser224Cys		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Doc2,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S224C	ENST00000350119.4	37	c.671	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441777	0.43326	.	.	ENSG00000149927	ENST00000350119	T	0.64085	-0.08	5.44	4.45	0.53987	C2 calcium/lipid-binding domain, CaLB (1);	0.128910	0.35708	N	0.003028	T	0.60183	0.2249	L	0.42245	1.32	0.37836	D	0.928893	P	0.51351	0.944	P	0.51193	0.662	T	0.66626	-0.5876	10	0.87932	D	0	.	7.7955	0.29146	0.0874:0.1642:0.7485:0.0	.	224	Q14183	DOC2A_HUMAN	C	224	ENSP00000340017:S224C	ENSP00000340017:S224C	S	-	2	0	DOC2A	29925896	0.996000	0.38824	1.000000	0.80357	0.314000	0.28054	3.592000	0.53993	2.552000	0.86080	0.491000	0.48974	TCC	DOC2A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Doc2		0.677	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	G	NM_003586		30018395	-1	no_errors	ENST00000350119	ensembl	human	known	70_37	missense	SNP	0.965	C
DOCK8	81704	genome.wustl.edu	37	9	304664	304664	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:304664T>A	ENST00000453981.1	+	5	600	c.488T>A	c.(487-489)tTt>tAt	p.F163Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.F95Y|DOCK8_ENST00000432829.2_Missense_Mutation_p.F95Y			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	163					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAACAGACGTTTGAGTCGGAA	0.453																																																	0													132.0	141.0	138.0					9																	304664		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.488T>A	9.37:g.304664T>A	ENSP00000408464:p.Phe163Tyr		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.F163Y	ENST00000453981.1	37	c.488	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860915	0.91433	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000487230;ENST00000469391	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	L	0.60845	1.875	0.58432	D	0.999998	D;D;P	0.89917	0.985;1.0;0.93	D;D;P	0.87578	0.914;0.998;0.819	T	0.64676	-0.6351	10	0.29301	T	0.29	.	15.1157	0.72401	0.0:0.0:0.0:1.0	.	95;163;163	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	Y	163;163;95;95;95	ENSP00000408464:F163Y;ENSP00000394888:F95Y;ENSP00000418318:F95Y;ENSP00000419438:F95Y	ENSP00000287364:F163Y	F	+	2	0	DOCK8	294664	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.369000	0.66138	2.311000	0.77944	0.533000	0.62120	TTT	DOCK8	-	pfam_DOCK_C/D_N		0.453	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	T	XM_036307		304664	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK9	23348	genome.wustl.edu	37	13	99540624	99540624	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:99540624G>C	ENST00000376460.1	-	17	2047	c.1967C>G	c.(1966-1968)tCt>tGt	p.S656C	DOCK9_ENST00000442173.1_Missense_Mutation_p.S656C|DOCK9_ENST00000339416.2_Missense_Mutation_p.S657C|DOCK9_ENST00000448493.2_Missense_Mutation_p.S668C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	657	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGGCAAAAGACTTCTGACT	0.403																																																	0													173.0	165.0	168.0					13																	99540624		1935	4125	6060	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1967C>G	13.37:g.99540624G>C	ENSP00000365643:p.Ser656Cys		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S657C	ENST00000376460.1	37	c.1970	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710678	0.48517	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.67	5.67	0.87782	.	0.115830	0.64402	D	0.000009	T	0.12390	0.0301	N	0.12182	0.205	0.58432	D	0.999995	B;B;B;B;B	0.24092	0.004;0.097;0.003;0.001;0.02	B;B;B;B;B	0.26614	0.029;0.071;0.012;0.017;0.048	T	0.20672	-1.0268	9	.	.	.	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	657;656;656;656;657	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	C	656;657;657;657;656;657;668;656	ENSP00000365643:S656C;ENSP00000341086:S657C;ENSP00000401958:S668C;ENSP00000406883:S656C	.	S	-	2	0	DOCK9	98338625	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.430000	0.97488	2.680000	0.91292	0.655000	0.94253	TCT	DOCK9	-	NULL		0.403	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99540624	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	1.000	C
DOPEY1	23033	genome.wustl.edu	37	6	83868325	83868325	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:83868325G>A	ENST00000349129.2	+	36	7041	c.6781G>A	c.(6781-6783)Gat>Aat	p.D2261N	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D2252N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2261					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTCACTGCTGATGAAGATAT	0.284																																																	0													58.0	59.0	58.0					6																	83868325		2199	4283	6482	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6781G>A	6.37:g.83868325G>A	ENSP00000195654:p.Asp2261Asn		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.D2261N	ENST00000349129.2	37	c.6781	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.255649	0.95336	.	.	ENSG00000083097	ENST00000349129	T	0.45276	0.9	5.86	5.86	0.93980	.	0.048484	0.85682	D	0.000000	T	0.54663	0.1872	L	0.48642	1.525	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.77004	0.989;0.989;0.989	T	0.53599	-0.8416	10	0.87932	D	0	-22.4532	20.1735	0.98170	0.0:0.0:1.0:0.0	.	2152;2252;2261	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	N	2261	ENSP00000195654:D2261N	ENSP00000195654:D2261N	D	+	1	0	DOPEY1	83925044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.265000	0.95647	2.937000	0.99478	0.650000	0.86243	GAT	DOPEY1	-	NULL		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83868325	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	A
DPCD	25911	genome.wustl.edu	37	10	103368658	103368658	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:103368658G>A	ENST00000370151.4	+	5	520	c.471G>A	c.(469-471)ctG>ctA	p.L157L	FBXW4_ENST00000470093.1_5'Flank|DPCD_ENST00000370147.1_Silent_p.*171*|DPCD_ENST00000370148.2_Silent_p.*171*	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	157					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						ACGCCTTGCTGAGCTTTGCCC	0.537																																																	0													207.0	186.0	193.0					10																	103368658		2203	4300	6503	SO:0001819	synonymous_variant	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.471G>A	10.37:g.103368658G>A			A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Silent	SNP	NULL	p.L157	ENST00000370151.4	37	c.471	CCDS7514.1	10																																																																																			DPCD	-	NULL		0.537	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	G			103368658	+1	no_errors	ENST00000370151	ensembl	human	known	70_37	silent	SNP	1.000	A
DPF2	5977	genome.wustl.edu	37	11	65112088	65112088	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65112088G>C	ENST00000528416.1	+	6	770				DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.Q225H|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGCGCCCCAGAGAGGTAGCT	0.453																																																	0																																										SO:0001627	intron_variant	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.637+548G>C	11.37:g.65112088G>C			A8K7C9|B4DT58	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q225H	ENST00000528416.1	37	c.675	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449875	0.43531	.	.	ENSG00000133884	ENST00000252268	D	0.89810	-2.57	5.27	5.27	0.74061	.	.	.	.	.	D	0.84915	0.5578	.	.	.	0.36367	D	0.861093	.	.	.	.	.	.	T	0.82125	-0.0612	6	0.14252	T	0.57	.	10.2415	0.43314	0.0907:0.0:0.9093:0.0	.	.	.	.	H	225	ENSP00000252268:Q225H	ENSP00000252268:Q225H	Q	+	3	2	DPF2	64868664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.180000	0.50895	2.618000	0.88619	0.591000	0.81541	CAG	DPF2	-	NULL		0.453	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	G	NM_006268		65112088	+1	no_errors	ENST00000252268	ensembl	human	novel	70_37	missense	SNP	1.000	C
DPM2	8818	genome.wustl.edu	37	9	130698034	130698034	+	Silent	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130698034C>A	ENST00000314392.8	-	4	885	c.222G>T	c.(220-222)ctG>ctT	p.L74L	RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	74					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						TCTTGGTCTTCAGCATCACAT	0.572																																																	0													133.0	112.0	119.0					9																	130698034		2203	4300	6503	SO:0001819	synonymous_variant	8818			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.222G>T	9.37:g.130698034C>A			Q5XKK9|Q6FGH3	Silent	SNP	pfam_DPM2	p.L74	ENST00000314392.8	37	c.222	CCDS6886.1	9																																																																																			DPM2	-	pfam_DPM2		0.572	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	HGNC	protein_coding	OTTHUMT00000054324.1	C	NM_003863		130698034	-1	no_errors	ENST00000314392	ensembl	human	known	70_37	silent	SNP	1.000	A
DRD1	1812	genome.wustl.edu	37	5	174869677	174869677	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:174869677G>A	ENST00000393752.2	-	2	1418	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	142					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CACTGATCAGGATGAAGGCTG	0.532																																																	0													128.0	132.0	131.0					5																	174869677		2203	4300	6503	SO:0001819	synonymous_variant	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.426C>T	5.37:g.174869677G>A			B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt	p.I142	ENST00000393752.2	37	c.426	CCDS4393.1	5																																																																																			DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	G	NM_000794		174869677	-1	no_errors	ENST00000329144	ensembl	human	known	70_37	silent	SNP	0.965	A
DSN1	79980	genome.wustl.edu	37	20	35390934	35390934	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:35390934C>T	ENST00000426836.1	-	6	892	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	DSN1_ENST00000373750.4_Missense_Mutation_p.E174K|DSN1_ENST00000373740.3_Missense_Mutation_p.E102K|DSN1_ENST00000373734.4_Missense_Mutation_p.E67K|DSN1_ENST00000373745.3_Missense_Mutation_p.E174K|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.E158K	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	174					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGTTTCAATTCTTCAGAAAGA	0.348																																																	0													70.0	65.0	67.0					20																	35390934		2202	4300	6502	SO:0001583	missense	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.520G>A	20.37:g.35390934C>T	ENSP00000389810:p.Glu174Lys		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.E174K	ENST00000426836.1	37	c.520	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013084	0.75161	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	4.82	4.82	0.62117	.	0.111759	0.64402	D	0.000015	T	0.62417	0.2426	N	0.20986	0.625	0.39148	D	0.962179	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.975	T	0.64719	-0.6341	9	0.46703	T	0.11	-6.1463	13.5867	0.61935	0.0:1.0:0.0:0.0	.	67;174	Q5JW55;Q9H410	.;DSN1_HUMAN	K	174;174;158;107;174;102;67;158;174;74	.	ENSP00000362838:E107K	E	-	1	0	DSN1	34824348	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.849000	0.55910	2.673000	0.90976	0.491000	0.48974	GAA	DSN1	-	pfam_Mtw1_DSN1		0.348	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	C	NM_024918		35390934	-1	no_errors	ENST00000373745	ensembl	human	known	70_37	missense	SNP	1.000	T
DSPP	1834	genome.wustl.edu	37	4	88536350	88536350	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:88536350G>A	ENST00000282478.7	+	4	2569	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D846N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	846	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cgacagcagcgatagcagtga	0.507																																																	0													83.0	105.0	97.0					4																	88536350		1650	2955	4605	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2536G>A	4.37:g.88536350G>A	ENSP00000282478:p.Asp846Asn		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D846N	ENST00000282478.7	37	c.2536	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	5.692	0.312319	0.10789	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87650	-2.28;-2.28	0.918	0.918	0.19386	.	.	.	.	.	T	0.71904	0.3395	L	0.31926	0.97	0.18873	N	0.999987	P	0.36065	0.535	B	0.22386	0.039	T	0.58205	-0.7677	9	0.14656	T	0.56	.	5.1892	0.15201	0.0:0.0:1.0:0.0	.	846	Q9NZW4	DSPP_HUMAN	N	846	ENSP00000382213:D846N;ENSP00000282478:D846N	ENSP00000282478:D846N	D	+	1	0	DSPP	88755374	0.200000	0.23398	0.160000	0.22671	0.006000	0.05464	0.907000	0.28531	0.792000	0.33850	0.165000	0.16767	GAT	DSPP	-	NULL		0.507	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	G	NM_014208		88536350	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.996	A
DST	667	genome.wustl.edu	37	6	56324949	56324949	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:56324949C>G	ENST00000361203.3	-	97	22110	c.22103G>C	c.(22102-22104)aGa>aCa	p.R7368T	DST_ENST00000421834.2_Missense_Mutation_p.R5364T|DST_ENST00000370788.2_Missense_Mutation_p.R5282T|DST_ENST00000370769.4_Missense_Mutation_p.R7479T|DST_ENST00000446842.2_Missense_Mutation_p.R7153T|DST_ENST00000370754.5_Missense_Mutation_p.R7657T|DST_ENST00000244364.6_Missense_Mutation_p.R5078T|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7477					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCGGACTCTGGCAGCTGC	0.478																																																	0													73.0	79.0	77.0					6																	56324949		1972	4142	6114	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22103G>C	6.37:g.56324949C>G	ENSP00000354508:p.Arg7368Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R7657T	ENST00000361203.3	37	c.22970		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.289979|3.289979	0.59976|0.59976	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.64085	.|1.01;-0.07;-0.08;-0.04;0.87;-0.04;-0.03	6.17|6.17	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.57536|0.57536	1.79|1.79	.|.	.|.	.|.	.|P;D;D;P;B;P;B;B	.|0.65815	.|0.651;0.99;0.995;0.651;0.23;0.514;0.415;0.0	.|B;P;P;B;B;B;B;B	.|0.59115	.|0.15;0.795;0.852;0.15;0.098;0.197;0.2;0.002	T|T	0.62525|0.62525	-0.6836|-0.6836	4|9	.|0.29301	.|T	.|0.29	.|.	11.5429|11.5429	0.50677|0.50677	0.0:0.8646:0.0:0.1354|0.0:0.8646:0.0:0.1354	.|.	.|5364;7479;7657;7477;5078;165;165;5282	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	Q|T	166|5078;7657;7479;5364;7153;5282;7368	.|ENSP00000244364:R5078T;ENSP00000359790:R7657T;ENSP00000359805:R7479T;ENSP00000400883:R5364T;ENSP00000393645:R7153T;ENSP00000359824:R5282T;ENSP00000354508:R7368T	.|ENSP00000244364:R5078T	E|R	-|-	1|2	0|0	DST|DST	56432908|56432908	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	3.658000|3.658000	0.54482|0.54482	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DST	-	NULL		0.478	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56324949	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.995	G
DST	667	genome.wustl.edu	37	6	56473210	56473210	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:56473210G>A	ENST00000361203.3	-	36	5590	c.5583C>T	c.(5581-5583)ctC>ctT	p.L1861L	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Silent_p.L1861L|DST_ENST00000446842.2_Silent_p.L1535L|DST_ENST00000370754.5_Silent_p.L2039L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L1861L			Q03001	DYST_HUMAN	dystonin	1861					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGGCCAAATGAGTCCAACAT	0.438																																																	0													87.0	85.0	86.0					6																	56473210		1907	4127	6034	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5583C>T	6.37:g.56473210G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L2039	ENST00000361203.3	37	c.6117		6																																																																																			DST	-	pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56473210	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	A
DTNB	1838	genome.wustl.edu	37	2	25655804	25655804	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:25655804C>G	ENST00000406818.3	-	14	1657	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	DTNB_ENST00000404103.3_Missense_Mutation_p.E470Q|DTNB_ENST00000407186.1_Missense_Mutation_p.E440Q|DTNB_ENST00000288642.8_Missense_Mutation_p.E470Q|DTNB_ENST00000405222.1_Missense_Mutation_p.E440Q|DTNB_ENST00000407038.3_Missense_Mutation_p.E440Q|DTNB_ENST00000407661.3_Missense_Mutation_p.E470Q|DTNB_ENST00000496972.2_Missense_Mutation_p.E413Q|DTNB_ENST00000545439.1_Missense_Mutation_p.E266Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	470						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCTTCTCAGGGGTGGGC	0.587																																																	0													30.0	35.0	34.0					2																	25655804		2174	4287	6461	SO:0001583	missense	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1408G>C	2.37:g.25655804C>G	ENSP00000384084:p.Glu470Gln		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.E470Q	ENST00000406818.3	37	c.1408	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724077	0.89298	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439	T;T;T;T;T;T;T;T;T	0.48522	2.14;2.11;2.12;2.12;2.13;2.13;2.11;2.12;0.81	5.8	5.8	0.92144	.	0.093931	0.64402	D	0.000001	T	0.58991	0.2161	L	0.50919	1.6	0.58432	D	0.999996	B;P;P;B;B;P;B;B;P;P;P;B;P	0.51537	0.103;0.91;0.946;0.182;0.114;0.91;0.111;0.343;0.914;0.946;0.946;0.053;0.91	B;P;P;B;B;P;B;B;P;P;P;B;P	0.58928	0.061;0.638;0.802;0.138;0.058;0.638;0.077;0.299;0.824;0.848;0.802;0.096;0.638	T	0.46938	-0.9155	10	0.15952	T	0.53	-16.1852	18.6269	0.91344	0.0:1.0:0.0:0.0	.	470;266;413;470;470;413;440;440;440;470;470;470;470	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	Q	413;470;470;470;440;440;440;470;266	ENSP00000444463:E413Q;ENSP00000384084:E470Q;ENSP00000385482:E470Q;ENSP00000385193:E470Q;ENSP00000384767:E440Q;ENSP00000384787:E440Q;ENSP00000385784:E440Q;ENSP00000288642:E470Q;ENSP00000444961:E266Q	ENSP00000288642:E470Q	E	-	1	0	DTNB	25509308	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	7.492000	0.81482	2.735000	0.93741	0.655000	0.94253	GAG	DTNB	-	pirsf_Distrobrevin		0.587	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25655804	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	missense	SNP	1.000	G
DUSP16	80824	genome.wustl.edu	37	12	12672925	12672925	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:12672925C>G	ENST00000228862.2	-	3	869	c.238G>C	c.(238-240)Gat>Cat	p.D80H	DUSP16_ENST00000298573.4_Missense_Mutation_p.D80H	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	80	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGACTGCAATCAATGTCAACC	0.423																																					Ovarian(158;443 1896 15437 36069 46477)												0													111.0	99.0	103.0					12																	12672925		2203	4300	6503	SO:0001583	missense	80824			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.238G>C	12.37:g.12672925C>G	ENSP00000228862:p.Asp80His		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D80H	ENST00000228862.2	37	c.238	CCDS8650.1	12	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885957	0.51908	.	.	ENSG00000111266	ENST00000228862;ENST00000298573	T;T	0.29397	1.57;1.57	5.75	5.75	0.90469	Rhodanese-like (5);	0.137530	0.49305	D	0.000146	T	0.33381	0.0861	L	0.36672	1.1	0.52099	D	0.99994	B	0.29508	0.246	B	0.35550	0.205	T	0.07462	-1.0771	10	0.52906	T	0.07	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	80	Q9BY84	DUS16_HUMAN	H	80	ENSP00000228862:D80H;ENSP00000298573:D80H	ENSP00000228862:D80H	D	-	1	0	DUSP16	12564192	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.183000	0.65065	2.716000	0.92895	0.655000	0.94253	GAT	DUSP16	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.423	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP16	HGNC	protein_coding	OTTHUMT00000400311.1	C	NM_030640		12672925	-1	no_errors	ENST00000228862	ensembl	human	known	70_37	missense	SNP	1.000	G
DTX1	1840	genome.wustl.edu	37	12	113534597	113534597	+	Silent	SNP	G	G	C	rs568353243		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113534597G>C	ENST00000257600.3	+	9	2219	c.1716G>C	c.(1714-1716)tcG>tcC	p.S572S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	572					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGGCGAGTCGGACACCGTGG	0.617																																																	0													84.0	56.0	65.0					12																	113534597		2203	4300	6503	SO:0001819	synonymous_variant	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1716G>C	12.37:g.113534597G>C			O60630|Q9BS04	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S572	ENST00000257600.3	37	c.1716	CCDS9164.1	12																																																																																			DTX1	-	NULL		0.617	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	G			113534597	+1	no_errors	ENST00000257600	ensembl	human	known	70_37	silent	SNP	0.636	C
DUSP5	1847	genome.wustl.edu	37	10	112262487	112262487	+	Missense_Mutation	SNP	G	G	C	rs370573010		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:112262487G>C	ENST00000369583.3	+	2	672	c.388G>C	c.(388-390)Gag>Cag	p.E130Q		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	130	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGGGGATATGAGACTTTCTA	0.408																																																	0													97.0	97.0	97.0					10																	112262487		2203	4300	6503	SO:0001583	missense	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.388G>C	10.37:g.112262487G>C	ENSP00000358596:p.Glu130Gln		Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.E130Q	ENST00000369583.3	37	c.388	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348848	0.82132	.	.	ENSG00000138166	ENST00000369583	T	0.27104	1.69	6.02	6.02	0.97574	Rhodanese-like (5);	0.137842	0.64402	D	0.000004	T	0.32645	0.0836	L	0.41356	1.27	0.58432	D	0.999998	P	0.47034	0.889	P	0.46758	0.526	T	0.01133	-1.1441	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	130	Q16690	DUS5_HUMAN	Q	130	ENSP00000358596:E130Q	ENSP00000358596:E130Q	E	+	1	0	DUSP5	112252477	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.336000	0.79245	2.850000	0.98022	0.650000	0.86243	GAG	DUSP5	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom		0.408	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	G	NM_004419		112262487	+1	no_errors	ENST00000369583	ensembl	human	known	70_37	missense	SNP	1.000	C
DYNC2LI1	51626	genome.wustl.edu	37	2	44019873	44019873	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:44019873C>T	ENST00000260605.8	+	6	420				DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000406852.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000398823.2_Missense_Mutation_p.H127Y	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				tccagtacctcatataaatga	0.373																																																	0																																										SO:0001627	intron_variant	51626				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.321-1723C>T	2.37:g.44019873C>T			A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	NULL	p.H127Y	ENST00000260605.8	37	c.379	CCDS1813.1	2	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627750	0.14257	.	.	ENSG00000138036	ENST00000398823	T	0.29142	1.58	1.97	-1.12	0.09808	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	8	0.34782	T	0.22	.	5.4113	0.16351	0.0:0.5675:0.0:0.4325	.	127	Q8TCX1-5	.	Y	127	ENSP00000381804:H127Y	ENSP00000381804:H127Y	H	+	1	0	DYNC2LI1	43873377	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.460000	0.06720	-0.332000	0.08489	0.485000	0.47835	CAT	DYNC2LI1	-	NULL		0.373	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYNC2LI1	HGNC	protein_coding	OTTHUMT00000250536.2	C	NM_016008		44019873	+1	no_errors	ENST00000398823	ensembl	human	novel	70_37	missense	SNP	0.004	T
E2F2	1870	genome.wustl.edu	37	1	23847437	23847437	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:23847437G>A	ENST00000361729.2	-	4	1131	c.705C>T	c.(703-705)ttC>ttT	p.F235F	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	235	Dimerization. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TCAGGTGCTTGAAGCTCAGAG	0.552																																																	0													116.0	104.0	108.0					1																	23847437		2203	4300	6503	SO:0001819	synonymous_variant	1870			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.705C>T	1.37:g.23847437G>A			B2R9W1|Q7Z6H1	Silent	SNP	pfam_E2F_TDP	p.F235	ENST00000361729.2	37	c.705	CCDS236.1	1																																																																																			E2F2	-	NULL		0.552	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	G	NM_004091		23847437	-1	no_errors	ENST00000361729	ensembl	human	known	70_37	silent	SNP	0.985	A
EBF2	64641	genome.wustl.edu	37	8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:25718727G>A	ENST00000520164.1	-	13	1717	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.R125*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.R246*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													115.0	121.0	119.0					8																	25718727		1993	4171	6164	SO:0001587	stop_gained	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1180C>T	8.37:g.25718727G>A	ENSP00000430241:p.Arg394*		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.R394*	ENST00000520164.1	37	c.1180	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.006618	0.98607	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3669	12.9768	0.58542	0.0:0.0:0.7173:0.2827	.	.	.	.	X	394;246;125	.	ENSP00000386178:R246X	R	-	1	2	EBF2	25774644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.032000	0.49736	2.587000	0.87381	0.655000	0.94253	CGA	EBF2	-	NULL		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	G	NM_022659		25718727	-1	no_errors	ENST00000520164	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ECSIT	51295	genome.wustl.edu	37	19	11617188	11617188	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11617188C>T	ENST00000270517.7	-	8	1242	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000417981.2_Silent_p.T155T|ECSIT_ENST00000592312.1_3'UTR|ECSIT_ENST00000591352.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000591104.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	369					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACTTAGCCATCGTCGCCTGGT	0.632																																																	0													67.0	66.0	66.0					19																	11617188		2203	4300	6503	SO:0001819	synonymous_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1107G>A	19.37:g.11617188C>T			E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	pfam_ECSIT	p.T369	ENST00000270517.7	37	c.1107	CCDS12262.1	19																																																																																			ECSIT	-	NULL		0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	C	NM_016581		11617188	-1	no_errors	ENST00000270517	ensembl	human	known	70_37	silent	SNP	0.031	T
EDF1	8721	genome.wustl.edu	37	9	139757835	139757835	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139757835C>T	ENST00000224073.1	-	3	223	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EDF1_ENST00000371648.4_Missense_Mutation_p.E66K|EDF1_ENST00000371649.1_Missense_Mutation_p.E66K	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	66	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCAGCTCCTCTGTCTCCCGG	0.592																																																	0													148.0	110.0	123.0					9																	139757835		2203	4300	6503	SO:0001583	missense	8721			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.196G>A	9.37:g.139757835C>T	ENSP00000224073:p.Glu66Lys		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MBF1_N,pfam_HTH_3,superfamily_Lambda_DNA-bd_dom,smart_HTH_3,pfscan_HTH_3	p.E66K	ENST00000224073.1	37	c.196	CCDS7011.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.553428	0.96501	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.79	5.79	0.91817	Multiprotein bridging factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	M	0.92784	3.345	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.70487	0.967;0.969	D	0.89012	0.3429	9	0.87932	D	0	-7.9204	20.0299	0.97533	0.0:1.0:0.0:0.0	.	66;66	O60869-2;O60869	.;EDF1_HUMAN	K	66	.	ENSP00000224073:E66K	E	-	1	0	EDF1	138877656	1.000000	0.71417	0.964000	0.40570	0.829000	0.46940	7.317000	0.79018	2.748000	0.94277	0.655000	0.94253	GAG	EDF1	-	pfam_MBF1_N		0.592	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	HGNC	protein_coding	OTTHUMT00000055143.1	C			139757835	-1	no_errors	ENST00000224073	ensembl	human	known	70_37	missense	SNP	1.000	T
EDNRA	1909	genome.wustl.edu	37	4	148463811	148463811	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:148463811C>T	ENST00000324300.5	+	0	1840				EDNRA_ENST00000358556.4_3'UTR|EDNRA_ENST00000506066.1_3'UTR|EDNRA_ENST00000511804.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ATAATCCTCTCGGAGAAAAAA	0.468																																																	0													89.0	94.0	92.0					4																	148463811		2203	4300	6503	SO:0001624	3_prime_UTR_variant	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.*41C>T	4.37:g.148463811C>T			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	RNA	SNP	-	NULL	ENST00000324300.5	37	NULL	CCDS3769.1	4																																																																																			EDNRA	-	-		0.468	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	C			148463811	+1	no_errors	ENST00000503721	ensembl	human	known	70_37	rna	SNP	0.000	T
EEF1D	1936	genome.wustl.edu	37	8	144671934	144671934	+	Intron	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:144671934G>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000532741.1_Silent_p.L156L|EEF1D_ENST00000442189.2_Silent_p.L106L|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Silent_p.L106L|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTTCGGCCGAGAGGCCCAGGA	0.662																																																	0													19.0	21.0	21.0					8																	144671934		2197	4296	6493	SO:0001627	intron_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2915C>A	8.37:g.144671934G>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu	p.L106	ENST00000529272.1	37	c.318	CCDS6405.1	8																																																																																			EEF1D	-	NULL		0.662	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	G	NM_032378		144671934	-1	no_errors	ENST00000423316	ensembl	human	known	70_37	silent	SNP	0.992	T
EFHC2	80258	genome.wustl.edu	37	X	44101443	44101443	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:44101443C>G	ENST00000420999.1	-	8	1287	c.1204G>C	c.(1204-1206)Gat>Cat	p.D402H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	402							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CGGAGAGAATCCTCTTCAGAA	0.428																																																	0													131.0	113.0	119.0					X																	44101443		1884	4087	5971	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1204G>C	X.37:g.44101443C>G	ENSP00000404232:p.Asp402His		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.D402H	ENST00000420999.1	37	c.1204	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.376395|4.376395	0.82682|0.82682	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.74842|.	-0.85;-0.88|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87285|0.87285	0.6139|0.6139	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.90156|0.90156	0.4224|0.4224	10|5	0.66056|.	D|.	0.02|.	-27.2652|-27.2652	19.2302|19.2302	0.93834|0.93834	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	402|.	Q5JST6|.	EFHC2_HUMAN|.	H|A	402;430;206|382	ENSP00000333823:D402H;ENSP00000404232:D430H|.	ENSP00000333823:D402H|.	D|G	-|-	1|2	0|0	EFHC2|EFHC2	43986387|43986387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	6.917000|6.917000	0.75782|0.75782	2.493000|2.493000	0.84123|0.84123	0.600000|0.600000	0.82982|0.82982	GAT|GGA	EFHC2	-	NULL		0.428	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44101443	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G
EFHC2	80258	genome.wustl.edu	37	X	44101485	44101485	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:44101485C>G	ENST00000420999.1	-	8	1245	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	388							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AATTTCCTTTCTATTTTTGGA	0.408																																																	0													75.0	66.0	68.0					X																	44101485		1864	4088	5952	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1162G>C	X.37:g.44101485C>G	ENSP00000404232:p.Glu388Gln		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.E388Q	ENST00000420999.1	37	c.1162	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.15|14.15	2.448135|2.448135	0.43429|0.43429	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.69175|.	-0.37;-0.38|.	5.9|5.9	5.03|5.03	0.67393|0.67393	.|.	0.230539|.	0.43579|.	D|.	0.000549|.	T|T	0.62146|0.62146	0.2404|0.2404	L|L	0.58925|0.58925	1.835|1.835	0.35925|0.35925	D|D	0.832106|0.832106	P|.	0.48503|.	0.911|.	B|.	0.39876|.	0.312|.	T|T	0.68599|0.68599	-0.5366|-0.5366	10|5	0.21540|.	T|.	0.41|.	-23.1706|-23.1706	10.8157|10.8157	0.46573|0.46573	0.0:0.8506:0.0:0.1494|0.0:0.8506:0.0:0.1494	.|.	388|.	Q5JST6|.	EFHC2_HUMAN|.	Q|T	388;416;192|368	ENSP00000333823:E388Q;ENSP00000404232:E416Q|.	ENSP00000333823:E388Q|.	E|R	-|-	1|2	0|0	EFHC2|EFHC2	43986429|43986429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.462000|1.462000	0.35266|0.35266	1.226000|1.226000	0.43582|0.43582	0.600000|0.600000	0.82982|0.82982	GAA|AGA	EFHC2	-	NULL		0.408	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44101485	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G
EFR3A	23167	genome.wustl.edu	37	8	132968055	132968055	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:132968055G>C	ENST00000254624.5	+	7	904	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	EFR3A_ENST00000519656.1_Missense_Mutation_p.E191Q|EFR3A_ENST00000334503.4_Missense_Mutation_p.E227Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	227						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AACTGACAAAGAAGAGAATCC	0.388																																																	0													136.0	140.0	139.0					8																	132968055		2203	4300	6503	SO:0001583	missense	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.679G>C	8.37:g.132968055G>C	ENSP00000254624:p.Glu227Gln		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E227Q	ENST00000254624.5	37	c.679	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787650	0.90367	.	.	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.68025	3.03;3.03;-0.3	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.49350	1.555	0.80722	D	1	B	0.32425	0.371	B	0.29524	0.103	T	0.58831	-0.7567	10	0.27785	T	0.31	-25.858	18.6929	0.91589	0.0:0.0:1.0:0.0	.	227	Q14156	EFR3A_HUMAN	Q	227;227;227;191	ENSP00000254624:E227Q;ENSP00000334769:E227Q;ENSP00000428086:E191Q	ENSP00000254624:E227Q	E	+	1	0	EFR3A	133037237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.265000	0.65519	2.643000	0.89663	0.650000	0.86243	GAA	EFR3A	-	superfamily_ARM-type_fold		0.388	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	G	NM_015137		132968055	+1	no_errors	ENST00000254624	ensembl	human	known	70_37	missense	SNP	1.000	C
EGFR	1956	genome.wustl.edu	37	7	55231442	55231442	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:55231442G>C	ENST00000275493.2	+	14	1825	c.1648G>C	c.(1648-1650)Gtg>Ctg	p.V550L	EGFR_ENST00000442591.1_Missense_Mutation_p.V550L|EGFR_ENST00000342916.3_Missense_Mutation_p.V550L|EGFR_ENST00000455089.1_Missense_Mutation_p.V505L|EGFR_ENST00000344576.2_Missense_Mutation_p.V550L|EGFR_ENST00000454757.2_Missense_Mutation_p.V497L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	550					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGGGAGTTTGTGGAGAACTC	0.527		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													142.0	135.0	138.0					7																	55231442		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1648G>C	7.37:g.55231442G>C	ENSP00000275493:p.Val550Leu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V550L	ENST00000275493.2	37	c.1648	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660175	0.29515	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.84	4.78	0.61160	Growth factor, receptor (1);	0.306795	0.35838	N	0.002943	T	0.30230	0.0758	L	0.31752	0.955	0.37039	D	0.897079	B;B;B;B	0.14012	0.002;0.0;0.004;0.009	B;B;B;B	0.15484	0.001;0.001;0.013;0.011	T	0.15983	-1.0418	10	0.36615	T	0.2	.	10.8836	0.46953	0.1583:0.0:0.8417:0.0	.	505;550;550;550	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	505;550;420;550;550;550;497;344	ENSP00000415559:V505L;ENSP00000342376:V550L;ENSP00000345973:V550L;ENSP00000275493:V550L;ENSP00000410031:V550L;ENSP00000395243:V497L	ENSP00000275493:V550L	V	+	1	0	EGFR	55198936	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	3.489000	0.53237	2.779000	0.95612	0.655000	0.94253	GTG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt		0.527	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	G	NM_005228		55231442	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	0.997	C
EHD3	30845	genome.wustl.edu	37	2	31489256	31489256	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:31489256G>A	ENST00000322054.5	+	6	1579	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	432					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGGCTGGAGAAGGTATCGA	0.627																																																	0													79.0	71.0	74.0					2																	31489256		2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1294G>A	2.37:g.31489256G>A	ENSP00000327116:p.Glu432Lys		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.E432K	ENST00000322054.5	37	c.1294	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286282	0.59867	.	.	ENSG00000013016	ENST00000322054	T	0.17854	2.25	5.84	5.84	0.93424	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	M	0.63843	1.955	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.04115	-1.0976	10	0.23891	T	0.37	-45.0889	20.1432	0.98067	0.0:0.0:1.0:0.0	.	432	Q9NZN3	EHD3_HUMAN	K	432	ENSP00000327116:E432K	ENSP00000327116:E432K	E	+	1	0	EHD3	31342760	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	9.749000	0.98871	2.769000	0.95229	0.561000	0.74099	GAA	EHD3	-	NULL		0.627	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	G	NM_014600		31489256	+1	no_errors	ENST00000322054	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF2D	1939	genome.wustl.edu	37	1	206769124	206769124	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:206769124C>T	ENST00000271764.2	-	13	1660	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	EIF2D_ENST00000367114.3_Silent_p.K360K|EIF2D_ENST00000472709.2_5'UTR	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	484					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCTCCCTTTCTTCACAATGG	0.398																																																	0													181.0	170.0	174.0					1																	206769124		2203	4300	6503	SO:0001819	synonymous_variant	1939			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1452G>A	1.37:g.206769124C>T			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.K484	ENST00000271764.2	37	c.1452	CCDS1465.1	1																																																																																			EIF2D	-	superfamily_TIF_SUI1		0.398	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	C	NM_006893		206769124	-1	no_errors	ENST00000271764	ensembl	human	known	70_37	silent	SNP	1.000	T
EIF3A	8661	genome.wustl.edu	37	10	120797792	120797792	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:120797792C>G	ENST00000369144.3	-	20	3813	c.3686G>C	c.(3685-3687)aGa>aCa	p.R1229T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1195T	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		Atctctctctctgtccctttc	0.478																																																	0													225.0	178.0	194.0					10																	120797792		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3686G>C	10.37:g.120797792C>G	ENSP00000358140:p.Arg1229Thr		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R1229T	ENST00000369144.3	37	c.3686	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	9.105	1.005068	0.19199	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26223	1.77;1.75	5.03	5.03	0.67393	.	0.000000	0.41712	U	0.000824	T	0.32285	0.0824	L	0.42245	1.32	0.36694	D	0.879761	D;B	0.61697	0.99;0.421	P;B	0.57152	0.814;0.057	T	0.10683	-1.0619	10	0.15499	T	0.54	-14.8518	11.4179	0.49962	0.0:0.9161:0.0:0.0839	.	1195;1229	F5H335;Q14152	.;EIF3A_HUMAN	T	1229;1195	ENSP00000358140:R1229T;ENSP00000438178:R1195T	ENSP00000358140:R1229T	R	-	2	0	EIF3A	120787782	1.000000	0.71417	0.982000	0.44146	0.492000	0.33523	1.919000	0.40015	2.512000	0.84698	0.462000	0.41574	AGA	EIF3A	-	NULL		0.478	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120797792	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	0.996	G
EIF3H	8667	genome.wustl.edu	37	8	117767936	117767936	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:117767936G>A	ENST00000276682.4	-	3	909	c.143C>T	c.(142-144)tCa>tTa	p.S48L	EIF3H_ENST00000521861.1_Missense_Mutation_p.S34L					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTTCACGGCTGAATCTCCCGA	0.617																																																	0													111.0	76.0	88.0					8																	117767936		2203	4300	6503	SO:0001583	missense	8667			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.143C>T	8.37:g.117767936G>A	ENSP00000276682:p.Ser48Leu			Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.S34L	ENST00000276682.4	37	c.101		8	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507224	0.44558	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518995;ENST00000522453;ENST00000520813	T;T;T;T;T	0.56611	0.45;0.45;0.77;0.45;0.45	5.65	3.84	0.44239	.	0.183275	0.49916	D	0.000129	T	0.42765	0.1217	L	0.33339	1.005	0.47547	D	0.999456	B;B;B	0.25850	0.036;0.136;0.136	B;B;B	0.24541	0.054;0.049;0.034	T	0.37337	-0.9710	10	0.62326	D	0.03	-1.4766	13.7282	0.62771	0.0:0.3144:0.6856:0.0	.	34;48;34	B4DJN9;B3KS98;O15372	.;.;EIF3H_HUMAN	L	34;48;34;34;48	ENSP00000429931:S34L;ENSP00000276682:S48L;ENSP00000428669:S34L;ENSP00000428885:S34L;ENSP00000427908:S48L	ENSP00000276682:S48L	S	-	2	0	EIF3H	117837117	1.000000	0.71417	0.991000	0.47740	0.496000	0.33645	3.469000	0.53093	0.915000	0.36847	-0.176000	0.13171	TCA	EIF3H	-	pfam_JAB1_Mov34_MPN_PAD1		0.617	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	G	NM_003756		117767936	-1	no_errors	ENST00000521861	ensembl	human	known	70_37	missense	SNP	1.000	A
ELANE	1991	genome.wustl.edu	37	19	855775	855775	+	Missense_Mutation	SNP	G	G	A	rs199659114		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:855775G>A	ENST00000590230.1	+	5	719	c.578G>A	c.(577-579)cGg>cAg	p.R193Q	ELANE_ENST00000263621.1_Missense_Mutation_p.R193Q			P08246	ELNE_HUMAN	elastase, neutrophil expressed	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		Missing (in SCN1 and CH). {ECO:0000269|PubMed:11675333}.		acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGAGGGGCCGGCAGGCCGGC	0.682																																																	0													38.0	38.0	38.0					19																	855775		2202	4296	6498	SO:0001583	missense	1991				CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.578G>A	19.37:g.855775G>A	ENSP00000466090:p.Arg193Gln		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R193Q	ENST00000590230.1	37	c.578	CCDS12045.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382660	0.42207	.	.	ENSG00000197561	ENST00000263621	D	0.88431	-2.38	4.46	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.235967	0.21660	U	0.071032	D	0.86723	0.6001	N	0.21282	0.65	0.19945	N	0.999942	D	0.76494	0.999	P	0.58266	0.836	T	0.76708	-0.2860	10	0.13470	T	0.59	.	12.9545	0.58418	0.0:0.0:1.0:0.0	.	193	P08246	ELNE_HUMAN	Q	193	ENSP00000263621:R193Q	ENSP00000263621:R193Q	R	+	2	0	ELANE	806775	0.072000	0.21174	0.053000	0.19242	0.016000	0.09150	1.612000	0.36889	2.198000	0.70561	0.462000	0.41574	CGG	ELANE	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.682	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELANE	HGNC	protein_coding	OTTHUMT00000457890.2	G	NM_001972		855775	+1	no_errors	ENST00000263621	ensembl	human	known	70_37	missense	SNP	0.205	A
ELF3	1999	genome.wustl.edu	37	1	201984422	201984422	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:201984422G>A	ENST00000359651.3	+	8	4279	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	ELF3_ENST00000367284.5_Missense_Mutation_p.E363K|ELF3_ENST00000367283.3_Missense_Mutation_p.E363K|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CGGCTGGAAGGAGGAAGAGGT	0.562																																																	0													72.0	72.0	72.0					1																	201984422		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1087G>A	1.37:g.201984422G>A	ENSP00000352673:p.Glu363Lys			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.E363K	ENST00000359651.3	37	c.1087	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276439	0.80580	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.14640	2.49;2.49;2.49	4.61	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.249685	0.33438	N	0.004905	T	0.17662	0.0424	L	0.60455	1.87	0.36571	D	0.873023	P	0.37061	0.58	B	0.39660	0.306	T	0.09997	-1.0649	10	0.72032	D	0.01	.	11.6357	0.51202	0.0:0.0:0.8221:0.1779	.	363	P78545	ELF3_HUMAN	K	363;363;363;340	ENSP00000352673:E363K;ENSP00000356253:E363K;ENSP00000356252:E363K	ENSP00000311348:E340K	E	+	1	0	ELF3	200251045	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.214000	0.58527	2.421000	0.82119	0.555000	0.69702	GAG	ELF3	-	NULL		0.562	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201984422	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	1.000	A
ELFN2	114794	genome.wustl.edu	37	22	37769910	37769910	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37769910G>C	ENST00000402918.2	-	3	2450	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	555					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTCCAGCTTGAGAGCATCGA	0.622																																																	0													74.0	70.0	71.0					22																	37769910		2203	4300	6503	SO:0001819	synonymous_variant	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1665C>G	22.37:g.37769910G>C			Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.L555	ENST00000402918.2	37	c.1665	CCDS33642.1	22																																																																																			ELFN2	-	NULL		0.622	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	G	NM_052906		37769910	-1	no_errors	ENST00000349653	ensembl	human	known	70_37	silent	SNP	1.000	C
ELFN2	114794	genome.wustl.edu	37	22	37771487	37771487	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37771487C>T	ENST00000402918.2	-	3	873	c.88G>A	c.(88-90)Gac>Aac	p.D30N	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	30					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGCCCTTGTCGCCCTCAATG	0.692																																																	0													103.0	97.0	99.0					22																	37771487		2202	4299	6501	SO:0001583	missense	114794			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.88G>A	22.37:g.37771487C>T	ENSP00000385277:p.Asp30Asn		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.D30N	ENST00000402918.2	37	c.88	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289872	0.80914	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.53423	0.62;0.62	4.94	4.94	0.65067	.	0.054461	0.64402	D	0.000001	T	0.57799	0.2078	L	0.39245	1.2	0.58432	D	0.99999	D	0.71674	0.998	P	0.59357	0.856	T	0.60687	-0.7214	10	0.56958	D	0.05	-34.6549	18.1325	0.89606	0.0:1.0:0.0:0.0	.	30	Q5R3F8	PPR29_HUMAN	N	30	ENSP00000300147:D30N;ENSP00000385277:D30N	ENSP00000300147:D30N	D	-	1	0	ELFN2	36101433	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.692000	0.84203	2.274000	0.75844	0.462000	0.41574	GAC	ELFN2	-	NULL		0.692	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	C	NM_052906		37771487	-1	no_errors	ENST00000349653	ensembl	human	known	70_37	missense	SNP	1.000	T
ELL	8178	genome.wustl.edu	37	19	18632761	18632761	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18632761C>G	ENST00000262809.4	-	1	176	c.105G>C	c.(103-105)ctG>ctC	p.L35L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	35					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGAAGGCCCTCAGGGCACTGT	0.701			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													46.0	36.0	39.0					19																	18632761		2203	4300	6503	SO:0001819	synonymous_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.105G>C	19.37:g.18632761C>G				Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L35	ENST00000262809.4	37	c.105	CCDS12380.1	19																																																																																			ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.701	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18632761	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	1.000	G
ELOVL2	54898	genome.wustl.edu	37	6	10995297	10995297	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:10995297G>C	ENST00000354666.3	-	5	531	c.448C>G	c.(448-450)Cat>Gat	p.H150D		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	150					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATAGAAGCATGATGATATACA	0.358																																																	0													162.0	155.0	158.0					6																	10995297		2203	4300	6503	SO:0001583	missense	54898			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.448C>G	6.37:g.10995297G>C	ENSP00000346693:p.His150Asp		Q6P9E1|Q86W94	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.H150D	ENST00000354666.3	37	c.448	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787883	0.90367	.	.	ENSG00000197977	ENST00000354666	T	0.51325	0.71	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89813	0.3983	10	0.87932	D	0	-1.7042	19.9598	0.97242	0.0:0.0:1.0:0.0	.	150	Q9NXB9	ELOV2_HUMAN	D	150	ENSP00000346693:H150D	ENSP00000346693:H150D	H	-	1	0	ELOVL2	11103283	1.000000	0.71417	0.785000	0.31869	0.993000	0.82548	9.640000	0.98453	2.716000	0.92895	0.655000	0.94253	CAT	ELOVL2	-	pfam_GNS1_SUR4		0.358	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	HGNC	protein_coding	OTTHUMT00000039849.1	G			10995297	-1	no_errors	ENST00000354666	ensembl	human	known	70_37	missense	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55119690	55119690	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:55119690C>T	ENST00000356458.6	+	18	3159	c.2639C>T	c.(2638-2640)tCa>tTa	p.S880L		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	880						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CTAGTGTTCTCAGGAGCAGCT	0.418																																																	0													232.0	202.0	211.0					2																	55119690		692	1591	2283	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.2639C>T	2.37:g.55119690C>T	ENSP00000348842:p.Ser880Leu		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S880L	ENST00000356458.6	37	c.2639	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.264124	0.95399	.	.	ENSG00000214595	ENST00000356458	T	0.01560	4.77	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172519	0.22513	U	0.059061	T	0.13713	0.0332	M	0.86651	2.83	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.00203	-1.1924	10	0.87932	D	0	.	19.506	0.95116	0.0:1.0:0.0:0.0	.	880	Q6ZMW3	EMAL6_HUMAN	L	880	ENSP00000348842:S880L	ENSP00000348842:S880L	S	+	2	0	EML6	54973194	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.400000	0.79949	2.611000	0.88343	0.585000	0.79938	TCA	EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.418	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	C	XM_001725002		55119690	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	missense	SNP	1.000	T
EMR4P	326342	genome.wustl.edu	37	19	6960346	6960346	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:6960346G>C	ENST00000600751.1	-	0	1597					NR_024075.1		Q86SQ3	EMR4_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)										TATTGAGGGAGGAAAGTTTGC	0.428																																																	0																																												326342			AY181245		19p13.2	2014-08-08	2008-06-06	2008-06-06	ENSG00000268758	ENSG00000268758		"""-"", ""GPCR / Class B : Orphans"""	19240	pseudogene	pseudogene		612305	"""G protein-coupled receptor 127"", ""egf-like module containing, mucin-like, hormone receptor-like 4"""	GPR127, EMR4		12565841	Standard	NR_024075		Approved	PGR16	uc010xjk.2	Q86SQ3	OTTHUMG00000177251		19.37:g.6960346G>C			Q86SP1	RNA	SNP	-	NULL	ENST00000600751.1	37	NULL		19																																																																																			EMR4P	-	-		0.428	EMR4P-002	KNOWN	basic	processed_transcript	EMR4P	HGNC	pseudogene	OTTHUMT00000436007.1	G	NR_024075		6960346	-1	no_errors	ENST00000600751	ensembl	human	known	70_37	rna	SNP	0.955	C
EMX2	2018	genome.wustl.edu	37	10	119308192	119308192	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:119308192G>A	ENST00000553456.3	+	0	2032				EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AAAAAATGATGATGATGATAA	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*449G>A	10.37:g.119308192G>A			G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-		0.408	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	G	NM_004098		119308192	+1	no_errors	ENST00000442245	ensembl	human	known	70_37	rna	SNP	0.001	A
ENDOU	8909	genome.wustl.edu	37	12	48107060	48107060	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:48107060G>C	ENST00000422538.3	-	7	985	c.863C>G	c.(862-864)tCa>tGa	p.S288*	ENDOU_ENST00000542202.1_Nonsense_Mutation_p.S54*|ENDOU_ENST00000229003.3_Nonsense_Mutation_p.S247*|ENDOU_ENST00000545824.2_Nonsense_Mutation_p.S225*|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	288					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GCTCCCACCTGAGAAGACATG	0.493																																																	0													151.0	140.0	144.0					12																	48107060		2203	4300	6503	SO:0001587	stop_gained	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.863C>G	12.37:g.48107060G>C	ENSP00000397679:p.Ser288*		B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Nonsense_Mutation	SNP	pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S247*	ENST00000422538.3	37	c.740	CCDS53785.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.025651	0.97216	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000542202;ENST00000545824	.	.	.	5.91	5.02	0.67125	.	0.331247	0.32593	N	0.005894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-21.1691	12.3962	0.55386	0.0783:0.0:0.9217:0.0	.	.	.	.	X	247;288;54;225	.	ENSP00000229003:S247X	S	-	2	0	ENDOU	46393327	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.126000	0.57937	1.511000	0.48818	0.655000	0.94253	TCA	ENDOU	-	pfam_Endoribonuclease_XendoU		0.493	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENDOU	HGNC	protein_coding	OTTHUMT00000405352.1	G	NM_006025.2		48107060	-1	no_errors	ENST00000229003	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ENPEP	2028	genome.wustl.edu	37	4	111397773	111397773	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:111397773C>G	ENST00000265162.5	+	1	545	c.203C>G	c.(202-204)tCa>tGa	p.S68*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	68					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCAGCCCCTCAGGTCCTCCT	0.652																																																	0													64.0	67.0	66.0					4																	111397773		2203	4300	6503	SO:0001587	stop_gained	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.203C>G	4.37:g.111397773C>G	ENSP00000265162:p.Ser68*		Q504U2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S68*	ENST00000265162.5	37	c.203	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.310549	0.97462	.	.	ENSG00000138792	ENST00000265162	.	.	.	2.7	2.7	0.31948	.	1.344850	0.05230	N	0.510183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	13.4328	0.61066	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000265162:S68X	S	+	2	0	ENPEP	111617222	0.003000	0.15002	0.029000	0.17559	0.115000	0.19883	2.103000	0.41806	1.324000	0.45282	0.491000	0.48974	TCA	ENPEP	-	NULL		0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	C			111397773	+1	no_errors	ENST00000265162	ensembl	human	known	70_37	nonsense	SNP	0.193	G
CHRNA4	1137	genome.wustl.edu	37	20	61999205	61999205	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:61999205G>C	ENST00000463705.1	-	3	1031				RP11-261N11.8_ENST00000370257.1_RNA|RP11-261N11.8_ENST00000428531.1_RNA			P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)						action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACTGACACAGAAAAGCCCTT	0.607																																																	0																																										SO:0001627	intron_variant	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000463705.1:c.4170+6027C>G	20.37:g.61999205G>C			Q4JGR7|Q4VAQ5|Q4VAQ6	RNA	SNP	-	NULL	ENST00000463705.1	37	NULL		20																																																																																			RP11-261N11.8	-	-		0.607	CHRNA4-002	KNOWN	basic	processed_transcript	ENSG00000203900	Clone_based_vega_gene	protein_coding	OTTHUMT00000280676.1	G			61999205	+1	no_errors	ENST00000370257	ensembl	human	known	70_37	rna	SNP	0.849	C
POLR2J2	246721	genome.wustl.edu	37	7	102313440	102313440	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:102313440C>T	ENST00000476151.1	-	0	0				POLR2J2_ENST00000358438.5_5'Flank|POLR2J2_ENST00000333432.6_5'Flank|POLR2J2_ENST00000591000.1_5'Flank			Q9GZM3	RPB1B_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J2						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			skin(1)	1						gaaagggagtctccctttccc	0.572																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS43627.1	7q22.1	2014-08-12			ENSG00000228049	ENSG00000267645		"""RNA polymerase subunits"""	23208	protein-coding gene	gene with protein product		609881				15586814	Standard	NM_032959		Approved	RPB11b1	uc010lij.2	Q9GZM3	OTTHUMG00000150388		7.37:g.102313440C>T	Exception_encountered		F6W009|Q9H1A8	Silent	SNP	NULL	p.E123	ENST00000476151.1	37	c.369	CCDS43627.1	7																																																																																			AC105052.1	-	NULL		0.572	POLR2J2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000205233	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000453068.1	C			102313440	-1	no_errors	ENST00000542270	ensembl	human	known	70_37	silent	SNP	0.000	T
AC022007.5	0	genome.wustl.edu	37	3	10048528	10048528	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:10048528G>A	ENST00000383808.2	-	0	1470				AC034193.5_ENST00000326237.3_RNA																							CAAGAACATTGAAACCTGACA	0.542																																																	0																																												0																															3.37:g.10048528G>A				RNA	SNP	-	NULL	ENST00000383808.2	37	NULL		3																																																																																			AC022007.5	-	-		0.542	AC022007.5-001	KNOWN	basic	lincRNA	ENSG00000206567	Clone_based_vega_gene	lincRNA	OTTHUMT00000339469.1	G			10048528	-1	no_errors	ENST00000383808	ensembl	human	known	70_37	rna	SNP	0.001	A
AC006988.1	0	genome.wustl.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																																	0																																												0																															7.37:g.88269891delT				RNA	DEL	-	NULL	ENST00000390184.1	37	NULL		7																																																																																			AC006988.1	-	-		0.313	AC006988.1-201	NOVEL	basic	miRNA	ENSG00000211518	Clone_based_ensembl_gene	miRNA		T			88269891	+1	no_errors	ENST00000390184	ensembl	human	novel	70_37	rna	DEL	0.475	-
ZNF337	26152	genome.wustl.edu	37	20	25657765	25657765	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:25657765C>G	ENST00000376436.1	-	4	790				ZNF337_ENST00000252979.5_Intron|ZNF337_ENST00000481610.1_Intron|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Intron|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ctgcttaattctaataaactc	0.343																																																	0																																										SO:0001627	intron_variant	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.251-92G>C	20.37:g.25657765C>G			B4DSM2|Q9Y3Y5	RNA	SNP	-	NULL	ENST00000376436.1	37	NULL	CCDS13174.1	20																																																																																			RP4-694B14.5	-	-		0.343	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000213742	Clone_based_vega_gene	protein_coding	OTTHUMT00000078454.1	C			25657765	+1	no_errors	ENST00000414393	ensembl	human	known	70_37	rna	SNP	0.124	G
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2	-	NM_018023		183520324	-1	no_errors	ENST00000401347	ensembl	human	novel	70_37	rna	INS	0.000:0.000	TA
CEBPZ	10153	genome.wustl.edu	37	2	37428867	37428867	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:37428867G>C	ENST00000234170.5	-	0	3350				AC007390.5_ENST00000406711.1_Nonstop_Mutation_p.*81Y|AC007390.5_ENST00000397226.2_Nonstop_Mutation_p.*81Y|AC007390.5_ENST00000402297.1_Nonstop_Mutation_p.*81Y|AC007390.5_ENST00000392061.2_Nonstop_Mutation_p.*81Y|AC007390.5_ENST00000397064.2_Nonstop_Mutation_p.*81Y	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GCAAAAATTAGATGTAAGTAG	0.259																																																	0													16.0	16.0	16.0					2																	37428867		2146	4202	6348	SO:0001624	3_prime_UTR_variant	0			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.*40C>G	2.37:g.37428867G>C			Q8NE75	Nonstop_Mutation	SNP	NULL	p.*81Y	ENST00000234170.5	37	c.243	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	G	9.757	1.169006	0.21621	.	.	ENSG00000218739	ENST00000402297;ENST00000397064;ENST00000406711;ENST00000392061;ENST00000397226	.	.	.	5.65	-0.0578	0.13800	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1782	0.25757	0.3507:0.0:0.5365:0.1128	.	.	.	.	Y	81	.	.	X	+	3	2	AC007390.5	37282371	0.061000	0.20836	0.210000	0.23637	0.649000	0.38597	0.128000	0.15810	0.206000	0.20587	-0.145000	0.13849	TAG	AC007390.5	-	NULL		0.259	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000218739	Clone_based_vega_gene	protein_coding	OTTHUMT00000218569.2	G	NM_005760		37428867	+1	no_errors	ENST00000392061	ensembl	human	novel	70_37	nonstop	SNP	0.012	C
LINC01140	339524	genome.wustl.edu	37	1	87617014	87617014	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:87617014G>A	ENST00000370548.2	+	8	944				AL139139.1_ENST00000408295.1_RNA																							atttcagatagaccacaaata	0.348																																																	0																																										SO:0001627	intron_variant	0																														ENST00000370548.2:c.872-16805G>A	1.37:g.87617014G>A				RNA	SNP	-	NULL	ENST00000370548.2	37	NULL		1																																																																																			AL139139.1	-	-		0.348	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000221222	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000457517.1	G			87617014	+1	no_errors	ENST00000408295	ensembl	human	novel	70_37	rna	SNP	0.008	A
AC060835.1	0	genome.wustl.edu	37	4	138149345	138149345	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:138149345G>A	ENST00000410594.1	+	0	64																											taaatgtaatgacaaaaacca	0.313																																																	0																																												0																															4.37:g.138149345G>A				RNA	SNP	-	NULL	ENST00000410594.1	37	NULL		4																																																																																			AC060835.1	-	-		0.313	AC060835.1-201	NOVEL	basic	miRNA	ENSG00000222526	Clone_based_ensembl_gene	miRNA		G			138149345	+1	no_errors	ENST00000410594	ensembl	human	novel	70_37	rna	SNP	0.000	A
RP6-206I17.1	0	genome.wustl.edu	37	1	143744275	143744275	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:143744275G>C	ENST00000445753.1	-	0	135																											GTCTTGCCTTGAACACATCCC	0.468																																																	0																																												0																															1.37:g.143744275G>C				RNA	SNP	-	NULL	ENST00000445753.1	37	NULL		1																																																																																			BX284650.1	-	-		0.468	RP6-206I17.1-001	KNOWN	basic	lincRNA	ENSG00000223804	Clone_based_vega_gene	lincRNA	OTTHUMT00000037956.1	G			143744275	-1	no_errors	ENST00000418192	ensembl	human	known	70_37	rna	SNP	1.000	C
RP11-672F9.1	0	genome.wustl.edu	37	10	38536867	38536867	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:38536867C>T	ENST00000450980.1	+	0	18																											AGAAGTGCATCATGATGTTTG	0.453																																																	0																																												0																															10.37:g.38536867C>T				RNA	SNP	-	NULL	ENST00000450980.1	37	NULL		10																																																																																			RP11-672F9.1	-	-		0.453	RP11-672F9.1-001	KNOWN	basic	lincRNA	ENSG00000226113	Clone_based_vega_gene	lincRNA	OTTHUMT00000047630.1	C			38536867	+1	no_errors	ENST00000450980	ensembl	human	known	70_37	rna	SNP	0.998	T
ADGRF5P1	389740	genome.wustl.edu	37	9	66517323	66517323	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:66517323G>A	ENST00000590130.1	-	0	862																											CCGCCAAGCTGAAGATGGAAA	0.478																																																	0																																												0																															9.37:g.66517323G>A				RNA	SNP	-	NULL	ENST00000590130.1	37	NULL		9																																																																																			RP11-262H14.7	-	-		0.478	RP11-262H14.7-002	KNOWN	basic	processed_transcript	ENSG00000227582	Clone_based_vega_gene	pseudogene	OTTHUMT00000459856.1	G			66517323	-1	no_errors	ENST00000590130	ensembl	human	known	70_37	rna	SNP	0.983	A
RP11-782C8.1	0	genome.wustl.edu	37	1	143232968	143232968	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:143232968G>A	ENST00000438000.1	+	0	1337				RP11-782C8.5_ENST00000427309.1_lincRNA																							atggctttatgagatgataaa	0.313																																																	0																																												0																															1.37:g.143232968G>A				RNA	SNP	-	NULL	ENST00000438000.1	37	NULL		1																																																																																			BX571672.1	-	-		0.313	RP11-782C8.1-002	KNOWN	basic	lincRNA	ENSG00000230850	Clone_based_vega_gene	lincRNA	OTTHUMT00000037560.1	G			143232968	+1	no_errors	ENST00000438000	ensembl	human	known	70_37	rna	SNP	0.000	A
AC104024.2	0	genome.wustl.edu	37	17	16891662	16891662	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16891662G>C	ENST00000419151.2	+	0	20																											GAGACAGGCAGACACTTCTGT	0.572																																																	0																																												0																															17.37:g.16891662G>C				RNA	SNP	-	NULL	ENST00000419151.2	37	NULL		17																																																																																			AC104024.2	-	-		0.572	AC104024.2-001	KNOWN	basic	lincRNA	ENSG00000230969	Clone_based_vega_gene	lincRNA	OTTHUMT00000131475.2	G			16891662	+1	no_errors	ENST00000419151	ensembl	human	known	70_37	rna	SNP	0.259	C
RP11-782C8.2	0	genome.wustl.edu	37	1	143209660	143209660	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:143209660C>T	ENST00000412204.2	-	0	1410				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATCCTCTCTTCTACACAGCTC	0.373																																																	0																																												0																															1.37:g.143209660C>T				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.373	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	C			143209660	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.001	T
FRMPD2	143162	genome.wustl.edu	37	10	49364145	49364145	+	IGR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:49364145C>G	ENST00000374201.3	-	0	4997				RP11-13E1.5_ENST00000429307.1_RNA|FRMPD2_ENST00000463706.1_5'Flank	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGAGGGCACCGTATTCCAG	0.607																																																	0																																										SO:0001628	intergenic_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171		10.37:g.49364145C>G			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	RNA	SNP	-	NULL	ENST00000374201.3	37	NULL	CCDS31195.1	10																																																																																			RP11-13E1.5	-	-		0.607	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232462	Clone_based_vega_gene	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49364145	-1	no_errors	ENST00000429307	ensembl	human	known	70_37	rna	SNP	0.000	G
FRG2FP	100128827	genome.wustl.edu	37	3	197838274	197838274	+	RNA	DEL	A	A	-	rs398052594|rs71623397	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:197838274delA	ENST00000419104.1	+	0	396																											GCTTGATGTTAAAAAAAAAAA	0.478													|||unknown(HR)	2434	0.486022	0.4153	0.5303	5008	,	,		21832	0.5992		0.4443	False		,,,				2504	0.4765																0																																												0																															3.37:g.197838274delA				RNA	DEL	-	NULL	ENST00000419104.1	37	NULL		3																																																																																			AC073135.3	-	-		0.478	AC073135.3-003	KNOWN	basic	processed_transcript	ENSG00000232783	Clone_based_vega_gene	pseudogene	OTTHUMT00000339698.1	A			197838274	+1	no_errors	ENST00000411596	ensembl	human	known	70_37	rna	DEL	0.001	-
TRAPPC3L	100128327	genome.wustl.edu	37	6	116818055	116818055	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:116818055C>G	ENST00000368602.3	-	0	703				RP11-259P20.1_ENST00000420595.2_RNA|TRAPPC3L_ENST00000356128.4_3'UTR	NM_001139444.2	NP_001132916.1	Q5T215	TPC3L_HUMAN	trafficking protein particle complex 3-like						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)											ATTTCTATGTCTATACATGTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK002042	CCDS47468.1	6q22.31	2013-05-01	2013-05-01	2013-05-01	ENSG00000173626	ENSG00000173626			21090	protein-coding gene	gene with protein product		614137	"""BET3 like (S. cerevisiae)"""	BET3L		21525244	Standard	NM_001139444		Approved	bA259P20.2, FLJ11180		Q5T215	OTTHUMG00000015440	ENST00000368602.3:c.*62G>C	6.37:g.116818055C>G			Q5T213|Q5T214	RNA	SNP	-	NULL	ENST00000368602.3	37	NULL	CCDS47468.1	6																																																																																			RP11-259P20.1	-	-		0.363	TRAPPC3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234117	Clone_based_vega_gene	protein_coding	OTTHUMT00000101701.1	C	XM_166322		116818055	+1	no_errors	ENST00000420595	ensembl	human	known	70_37	rna	SNP	0.000	G
CATIP-AS2	103689911	genome.wustl.edu	37	2	219215890	219215890	+	RNA	DEL	T	T	-			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219215890delT	ENST00000411433.1	-	0	112																											tacccatcgcttttttttttc	0.358																																																	0										38,149,1665		4,0,30,4,141,747	15.0	13.0	14.0				0.2	2		15	90,337,3477		1,1,87,14,308,1541	no	intergenic				5,1,117,18,449,2288	A1A1,A1A2,A1R,A2A2,A2R,RR		10.9375,10.0972,10.6671			219215890	128,486,5142	692	1590	2282			0																															2.37:g.219215890delT				RNA	DEL	-	NULL	ENST00000411433.1	37	NULL		2																																																																																			AC021016.8	-	-		0.358	AC021016.8-001	KNOWN	basic	antisense	ENSG00000237281	Clone_based_vega_gene	antisense	OTTHUMT00000338557.1	T			219215890	-1	no_errors	ENST00000411433	ensembl	human	known	70_37	rna	DEL	0.199	-
ISLR2	57611	genome.wustl.edu	37	15	74420858	74420858	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:74420858C>T	ENST00000361742.3	+	0	0				ISLR2_ENST00000453268.2_5'Flank|ISLR2_ENST00000435464.1_5'Flank|ISLR2_ENST00000565159.1_5'Flank|RP11-247C2.2_ENST00000514871.1_Missense_Mutation_p.E79K|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_5'Flank|RP11-247C2.2_ENST00000563727.1_Missense_Mutation_p.E74K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2						positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCTGGTCCTCGGGCCCCGAA	0.602																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624		15.37:g.74420858C>T	Exception_encountered		A8K352|Q9P263	Missense_Mutation	SNP	NULL	p.E79K	ENST00000361742.3	37	c.235	CCDS10259.1	15																																																																																			RP11-247C2.2	-	NULL		0.602	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248540	Clone_based_vega_gene	protein_coding	OTTHUMT00000269046.1	C	NM_020851		74420858	-1	no_errors	ENST00000514871	ensembl	human	putative	70_37	missense	SNP	0.000	T
SRI	6717	genome.wustl.edu	37	7	87848262	87848262	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:87848262G>A	ENST00000265729.2	-	2	104				SRI_ENST00000394641.3_Intron|SRI_ENST00000490437.1_Intron|SRI_ENST00000431660.1_Intron|SRI_ENST00000419179.1_Intron|AC003991.3_ENST00000594469.1_RNA|CTB-167B5.1_ENST00000520993.1_RNA	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin						action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TCCATACTGTGAAACAGGAAA	0.542																																																	0													53.0	52.0	52.0					7																	87848262		2203	4300	6503	SO:0001627	intron_variant	0			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.52-5C>T	7.37:g.87848262G>A			A8MTH6|B4DKK2|D6W5Q0	RNA	SNP	-	NULL	ENST00000265729.2	37	NULL	CCDS5612.1	7																																																																																			CTB-167B5.1	-	-		0.542	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254003	Clone_based_vega_gene	protein_coding	OTTHUMT00000253680.1	G	NM_003130		87848262	+1	no_errors	ENST00000520993	ensembl	human	known	70_37	rna	SNP	0.145	A
C12orf80	283403	genome.wustl.edu	37	12	52602151	52602151	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:52602151C>T	ENST00000551894.1	-	0	268				LINC00592_ENST00000549830.2_lincRNA					chromosome 12 open reading frame 80																		GATTAGACTTCAAGAAGGACT	0.408																																																	0																																												0			BC038743		12q13.13	2013-06-20			ENSG00000257137	ENSG00000257137			27473	other	unknown							Standard	NM_001242696		Approved				OTTHUMG00000169626		12.37:g.52602151C>T				RNA	SNP	-	NULL	ENST00000551894.1	37	NULL		12																																																																																			RP11-845M18.3	-	-		0.408	C12orf80-001	KNOWN	basic	lincRNA	ENSG00000257137	Clone_based_vega_gene	lincRNA	OTTHUMT00000405174.1	C	NM_001242696		52602151	-1	no_errors	ENST00000551894	ensembl	human	known	70_37	rna	SNP	0.001	T
RP11-415I12.3	0	genome.wustl.edu	37	12	64082250	64082250	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:64082250G>A	ENST00000509615.2	-	0	238				RP11-415I12.2_ENST00000541353.1_RNA																							GAATGCTTTTGAATCAGGCTC	0.453																																																	0																																												0																															12.37:g.64082250G>A				RNA	SNP	-	NULL	ENST00000509615.2	37	NULL		12																																																																																			RP11-415I12.2	-	-		0.453	RP11-415I12.3-001	KNOWN	basic	antisense	ENSG00000255583	Clone_based_vega_gene	antisense	OTTHUMT00000400798.1	G			64082250	-1	no_errors	ENST00000541353	ensembl	human	known	70_37	rna	SNP	1.000	A
MGAM2	93432	genome.wustl.edu	37	7	141895964	141895964	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:141895964G>C	ENST00000477922.3	+	38	4411	c.4357G>C	c.(4357-4359)Gag>Cag	p.E1453Q																	endometrium(1)|lung(5)	6						AGCTGTGCAGGAGGTGACAGG	0.542																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.4357G>C	7.37:g.141895964G>C	ENSP00000420449:p.Glu1453Gln			Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.E380Q	ENST00000477922.3	37	c.1138		7	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383360	0.25031	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	4.5	3.62	0.41486	.	2.016950	0.02692	N	0.110813	T	0.23171	0.0560	.	.	.	.	.	.	.	.	.	.	.	.	T	0.19582	-1.0301	5	0.06494	T	0.89	.	10.7628	0.46274	0.094:0.0:0.906:0.0	.	.	.	.	Q	1421;380	.	ENSP00000367474:E380Q	E	+	1	0	RP11-1220K2.2	141542433	0.982000	0.34865	1.000000	0.80357	0.875000	0.50365	2.174000	0.42482	1.259000	0.44117	-0.143000	0.13931	GAG	RP11-1220K2.2	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.542	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	G			141895964	+1	no_errors	ENST00000550494	ensembl	human	known	70_37	missense	SNP	1.000	C
MGAM2	93432	genome.wustl.edu	37	7	141898466	141898466	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:141898466G>C	ENST00000477922.3	+	44	5029	c.4975G>C	c.(4975-4977)Gac>Cac	p.D1659H																	endometrium(1)|lung(5)	6						GGCTCCCCTTGACCACATCAA	0.468																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.4975G>C	7.37:g.141898466G>C	ENSP00000420449:p.Asp1659His			Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.D586H	ENST00000477922.3	37	c.1756		7	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144343	0.57044	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	4.73	2.91	0.33838	.	0.282417	0.30347	N	0.009829	T	0.55909	0.1950	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66956	-0.5792	5	0.59425	D	0.04	.	8.7135	0.34397	0.186:0.0:0.814:0.0	.	.	.	.	H	1627;586	.	ENSP00000367474:D586H	D	+	1	0	RP11-1220K2.2	141544935	0.997000	0.39634	0.806000	0.32338	0.964000	0.63967	2.387000	0.44389	0.708000	0.31955	0.655000	0.94253	GAC	RP11-1220K2.2	-	pfam_Glyco_hydro_31		0.468	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	G			141898466	+1	no_errors	ENST00000550494	ensembl	human	known	70_37	missense	SNP	0.778	C
SULT1A3	6818	genome.wustl.edu	37	16	30217335	30217335	+	IGR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30217335G>A	ENST00000395138.2	+	0	1326				RP11-347C12.3_ENST00000550538.1_Missense_Mutation_p.S307L|RP11-347C12.3_ENST00000568109.1_5'Flank|SLX1A-SULT1A3_ENST00000565342.1_RNA			P0DMM9	ST1A3_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3						catecholamine metabolic process (GO:0006584)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	aryl sulfotransferase activity (GO:0004062)										AGCTGGGAGTGAGGACCCCGT	0.701																																																	0																																										SO:0001628	intergenic_variant	0			U20499	CCDS10674.1	16p11.2	2012-10-08			ENSG00000261052	ENSG00000261052	2.8.2.1	"""Sulfotransferases, cytosolic"""	11455	protein-coding gene	gene with protein product		600641		STM		8117269, 7829089	Standard	NM_177552		Approved	TL-PST	uc002dtb.3	P0DMM9	OTTHUMG00000048083		16.37:g.30217335G>A			B4DNV0|O95603|P50224|Q1ET66|Q6ZWJ5	Missense_Mutation	SNP	NULL	p.S307L	ENST00000395138.2	37	c.920	CCDS10674.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.35|15.35	2.806188|2.806188	0.50421|0.50421	.|.	.|.	ENSG00000258130|ENSG00000258130	ENST00000549946|ENST00000550538;ENST00000549390	.|T	.|0.33216	.|1.42	1.36|1.36	1.36|1.36	0.22044|0.22044	.|.	.|.	.|.	.|.	.|.	T|T	0.44871|0.44871	0.1314|0.1314	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.54772	.|0.968	.|P	.|0.61874	.|0.895	T|T	0.55231|0.55231	-0.8173|-0.8173	3|7	.|0.87932	.|D	.|0	.|.	6.1074|6.1074	0.20081|0.20081	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|307	.|F8VWA3	.|.	Y|L	11|307;50	.|ENSP00000449223:S307L	.|ENSP00000447453:S50L	H|S	-|-	1|2	0|0	RP11-347C12.3|RP11-347C12.3	30124836|30124836	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.002000|0.002000	0.02628|0.02628	0.698000|0.698000	0.25571|0.25571	1.041000|1.041000	0.40125|0.40125	0.406000|0.406000	0.27484|0.27484	CAC|TCA	RP11-347C12.3	-	NULL		0.701	SULT1A3-010	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ENSG00000258130	Clone_based_vega_gene	protein_coding	OTTHUMT00000434095.1	G	NM_003166		30217335	-1	no_errors	ENST00000550538	ensembl	human	putative	70_37	missense	SNP	0.015	A
CCDC144A	9720	genome.wustl.edu	37	17	16676931	16676931	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16676931G>C	ENST00000360524.8	+	0	4448				CCDC144A_ENST00000443444.2_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R1421T|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R1421T	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		ATTTTAAGAAGAAAATACATA	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.*88G>C	17.37:g.16676931G>C			O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.R1421T	ENST00000360524.8	37	c.4262	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	8.105	0.777468	0.16120	.	.	ENSG00000170160	ENST00000399273	T	0.02709	4.19	2.14	-0.317	0.12736	.	.	.	.	.	T	0.02848	0.0085	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.45702	-0.9243	6	0.39692	T	0.17	.	4.3246	0.11034	0.6148:0.0:0.3852:0.0	.	.	.	.	T	1421	ENSP00000382215:R1421T	ENSP00000382215:R1421T	R	+	2	0	CCDC144A	16617656	1.000000	0.71417	0.014000	0.15608	0.050000	0.14768	1.506000	0.35747	-0.264000	0.09365	0.195000	0.17529	AGA	CCDC144A	-	NULL		0.308	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000266302	Uniprot_genename	protein_coding	OTTHUMT00000444093.1	G			16676931	+1	no_errors	ENST00000448331	ensembl	human	known	70_37	missense	SNP	0.283	C
HCN2	610	genome.wustl.edu	37	19	617134	617134	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:617134G>A	ENST00000251287.2	+	0	3383				AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2						cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|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)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATTCCGCGCAATAAACGA	0.672																																					Melanoma(145;1175 2427 8056 36306)												0																																										SO:0001624	3_prime_UTR_variant	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.*660G>A	19.37:g.617134G>A			O60742|O60743|O75267|Q9UBS2	RNA	SNP	-	NULL	ENST00000251287.2	37	NULL	CCDS12035.1	19																																																																																			AC005559.2	-	-		0.672	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266939	Clone_based_vega_gene	protein_coding	OTTHUMT00000452100.1	G	NM_001194		617134	-1	no_errors	ENST00000591847	ensembl	human	known	70_37	rna	SNP	1.000	A
HSD17B1	3292	genome.wustl.edu	37	17	40705912	40705912	+	Intron	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:40705912C>A	ENST00000585807.1	+	4	4259				HSD17B1_ENST00000225929.5_Intron|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1						bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	TCCAGTGAGTCAACACCCCCG	0.617																																																	0													47.0	41.0	43.0					17																	40705912		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.539+7C>A	17.37:g.40705912C>A			B3KXS1|Q2M2L8	RNA	SNP	-	NULL	ENST00000585807.1	37	NULL	CCDS11428.1	17																																																																																			RP11-400F19.6	-	-		0.617	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266962	Clone_based_vega_gene	protein_coding	OTTHUMT00000450392.1	C	NM_000413		40705912	-1	no_errors	ENST00000590513	ensembl	human	known	70_37	rna	SNP	0.500	A
NLRP9	338321	genome.wustl.edu	37	19	56220264	56220264	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56220264C>G	ENST00000332836.2	-	0	3017				CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9							cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACGACTACTTCAGGGTGTTCC	0.498																																																	0													113.0	111.0	112.0					19																	56220264		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.*14G>C	19.37:g.56220264C>G			B2RN12|Q86W27	RNA	SNP	-	NULL	ENST00000332836.2	37	NULL	CCDS12934.1	19																																																																																			CTD-2611O12.8	-	-		0.498	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267865	Clone_based_vega_gene	protein_coding	OTTHUMT00000453653.1	C	NM_176820		56220264	+1	no_errors	ENST00000596293	ensembl	human	known	70_37	rna	SNP	0.018	G
ZMYND8	23613	genome.wustl.edu	37	20	45947722	45947722	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:45947722G>A	ENST00000311275.7	-	3	279				ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000355972.4_Intron|AL031666.2_ENST00000599904.1_Missense_Mutation_p.E120K|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000458360.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCTGCTCAGAGGGCCTAGC	0.577																																																	0													30.0	28.0	29.0					20																	45947722		876	1990	2866	SO:0001627	intron_variant	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.26-8774C>T	20.37:g.45947722G>A			B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	NULL	p.E120K	ENST00000311275.7	37	c.358		20																																																																																			AL031666.2	-	NULL		0.577	ZMYND8-007	KNOWN	basic	protein_coding	ENSG00000267882	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000079596.2	G	NM_183047		45947722	+1	no_errors	ENST00000599904	ensembl	human	known	70_37	missense	SNP	0.001	A
AC004899.1	0	genome.wustl.edu	37	7	48887541	48887541	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:48887541C>G	ENST00000596947.1	+	1	180	c.41C>G	c.(40-42)tCg>tGg	p.S14W																								AGGTACACGTCGTCCTGGGGG	0.557																																																	0																																										SO:0001583	missense	0																														ENST00000596947.1:c.41C>G	7.37:g.48887541C>G	ENSP00000470936:p.Ser14Trp			Missense_Mutation	SNP	NULL	p.S14W	ENST00000596947.1	37	c.41		7																																																																																			AC004899.1	-	NULL		0.557	AC004899.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000267970	Clone_based_ensembl_gene	protein_coding		C			48887541	+1	no_errors	ENST00000596947	ensembl	human	known	70_37	missense	SNP	0.033	G
CTD-2626G11.2	0	genome.wustl.edu	37	19	20933131	20933131	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:20933131G>A	ENST00000593903.1	-	0	4925																											ggaacagctggaccttgtctc	0.502																																																	0																																												0																															19.37:g.20933131G>A				RNA	SNP	-	NULL	ENST00000593903.1	37	NULL		19																																																																																			CTD-2626G11.2	-	-		0.502	CTD-2626G11.2-001	KNOWN	basic	lincRNA	ENSG00000268416	Clone_based_vega_gene	lincRNA	OTTHUMT00000463423.1	G			20933131	-1	no_errors	ENST00000593903	ensembl	human	known	70_37	rna	SNP	0.000	A
EPPK1	83481	genome.wustl.edu	37	8	144941826	144941826	+	Missense_Mutation	SNP	C	C	T	rs369677374		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:144941826C>T	ENST00000525985.1	-	2	5667	c.5596G>A	c.(5596-5598)Gat>Aat	p.D1866N				P58107	EPIPL_HUMAN	epiplakin 1	1866						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCTTCTGATCGATGACCCTG	0.567																																																	0								C	ASN/ASP	0,4198		0,0,2099	131.0	129.0	130.0		5596	2.2	0.0	8		130	1,8457		0,1,4228	no	missense	EPPK1	NM_031308.1	23	0,1,6327	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	1866/2420	144941826	1,12655	2099	4229	6328	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5596G>A	8.37:g.144941826C>T	ENSP00000436337:p.Asp1866Asn		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D1866N	ENST00000525985.1	37	c.5596		8	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033582	0.19590	0.0	1.18E-4	ENSG00000227184	ENST00000525985	T	0.73258	-0.73	5.1	2.23	0.28157	.	.	.	.	.	T	0.48314	0.1493	N	0.16656	0.425	0.09310	N	0.999992	P	0.35493	0.505	B	0.23275	0.045	T	0.29427	-1.0012	9	0.45353	T	0.12	.	9.3227	0.37975	0.0:0.7508:0.0:0.2492	.	1866	E9PPU0	.	N	1866	ENSP00000436337:D1866N	ENSP00000436337:D1866N	D	-	1	0	EPPK1	145013814	0.915000	0.31059	0.006000	0.13384	0.002000	0.02628	1.942000	0.40243	0.712000	0.32039	0.585000	0.79938	GAT	EPPK1	-	NULL		0.567	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	C	NM_031308		144941826	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.276	T
ERCC4	2072	genome.wustl.edu	37	16	14029049	14029049	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:14029049G>A	ENST00000311895.7	+	8	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	420	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													139.0	129.0	132.0					16																	14029049		2197	4300	6497	SO:0001819	synonymous_variant	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1260G>A	16.37:g.14029049G>A			A5PKV6|A8K111|O00140|Q8TD83	Silent	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L420	ENST00000311895.7	37	c.1260	CCDS32390.1	16																																																																																			ERCC4	-	tigrfam_Rad1		0.403	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14029049	+1	no_errors	ENST00000311895	ensembl	human	known	70_37	silent	SNP	0.982	A
ERICH2	285141	genome.wustl.edu	37	2	171649424	171649424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:171649424C>T	ENST00000409885.1	+	3	321	c.268C>T	c.(268-270)Cag>Tag	p.Q90*				A1L162	ERIC2_HUMAN	glutamate-rich 2	90																	AAAATTATGTCAGATGAGTAA	0.303																																																	0																																										SO:0001587	stop_gained	285141			BC127676, BC150546		2q31.1	2012-09-25			ENSG00000204334	ENSG00000204334			44395	protein-coding gene	gene with protein product							Standard	XM_001714892		Approved		uc002ugg.3	A1L162	OTTHUMG00000154074	ENST00000409885.1:c.268C>T	2.37:g.171649424C>T	ENSP00000387298:p.Gln90*		A7E2T7	Nonsense_Mutation	SNP	NULL	p.Q90*	ENST00000409885.1	37	c.268		2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765510	0.90020	.	.	ENSG00000204334	ENST00000409885	.	.	.	5.2	4.3	0.51218	.	0.140469	0.32093	N	0.006581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-9.9515	11.8681	0.52505	0.0:0.7723:0.2277:0.0	.	.	.	.	X	90	.	ENSP00000387298:Q90X	Q	+	1	0	AC007405.7	171357670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.929000	0.40114	1.407000	0.46875	0.555000	0.69702	CAG	ERICH2	-	NULL		0.303	ERICH2-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ERICH2	HGNC	protein_coding	OTTHUMT00000333723.1	C			171649424	+1	no_errors	ENST00000409885	ensembl	human	novel	70_37	nonsense	SNP	1.000	T
ESPL1	9700	genome.wustl.edu	37	12	53673569	53673569	+	Silent	SNP	G	G	A	rs567728499		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:53673569G>A	ENST00000257934.4	+	12	2509	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	ESPL1_ENST00000552462.1_Silent_p.L806L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	806					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGAGAGACTGAAGGACCACT	0.612																																					Colon(53;1069 1201 2587 5382)												0													106.0	100.0	102.0					12																	53673569		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2418G>A	12.37:g.53673569G>A				Silent	SNP	pfam_Peptidase_C50	p.L806	ENST00000257934.4	37	c.2418	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	G	NM_012291		53673569	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.004	A
ESR1	2099	genome.wustl.edu	37	6	152163896	152163896	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:152163896A>G	ENST00000206249.3	+	2	979	c.617A>G	c.(616-618)aAg>aGg	p.K206R	ESR1_ENST00000440973.1_Missense_Mutation_p.K206R|ESR1_ENST00000443427.1_Missense_Mutation_p.K206R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.K206R|ESR1_ENST00000456483.2_Missense_Mutation_p.K206R|ESR1_ENST00000427531.2_Missense_Mutation_p.K33R	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	206	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAGGGCTGCAAGGCCTTCTTC	0.458																																																	0													125.0	112.0	116.0					6																	152163896		2203	4300	6503	SO:0001583	missense	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.617A>G	6.37:g.152163896A>G	ENSP00000206249:p.Lys206Arg		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.K206R	ENST00000206249.3	37	c.617	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	30|30	5.051224|5.051224	0.93740|0.93740	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;D;D|.	0.98164|.	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75057|0.75057	0.3798|0.3798	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.996;1.0;0.999;1.0|.	T|T	0.78056|0.78056	-0.2353|-0.2353	10|5	0.87932|.	D|.	0|.	.|.	16.635|16.635	0.85050|0.85050	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	13;206;206;206|.	B5LY05;A8KAF4;G4XH65;P03372|.	.;.;.;ESR1_HUMAN|.	R|G	206;206;206;206;206;31;134;33|111	ENSP00000405330:K206R;ENSP00000342630:K206R;ENSP00000415934:K206R;ENSP00000387500:K206R;ENSP00000206249:K206R;ENSP00000445454:K33R|.	ENSP00000206249:K206R|.	K|R	+|+	2|1	0|2	ESR1|ESR1	152205589|152205589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAG|AGG	ESR1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.458	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	A			152163896	+1	no_errors	ENST00000206249	ensembl	human	known	70_37	missense	SNP	1.000	G
ESYT1	23344	genome.wustl.edu	37	12	56527950	56527950	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56527950G>A	ENST00000394048.5	+	14	1794	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	ESYT1_ENST00000267113.4_Silent_p.V520V|ESYT1_ENST00000541590.1_Silent_p.V520V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	510	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTCAGGATGTGACTCAGGAGA	0.527																																																	0													106.0	90.0	95.0					12																	56527950		2203	4300	6503	SO:0001819	synonymous_variant	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1530G>A	12.37:g.56527950G>A			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.V520	ENST00000394048.5	37	c.1560	CCDS8904.1	12																																																																																			ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.527	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56527950	+1	no_errors	ENST00000267113	ensembl	human	known	70_37	silent	SNP	1.000	A
ESYT1	23344	genome.wustl.edu	37	12	56528198	56528198	+	Nonsense_Mutation	SNP	G	G	T	rs368155629		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56528198G>T	ENST00000394048.5	+	15	1882	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	ESYT1_ENST00000267113.4_Nonsense_Mutation_p.E550*|ESYT1_ENST00000541590.1_Nonsense_Mutation_p.E550*	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	540	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCAAAGCCAGGAGCTCGATGT	0.507																																																	0													147.0	127.0	134.0					12																	56528198		2203	4300	6503	SO:0001587	stop_gained	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1618G>T	12.37:g.56528198G>T	ENSP00000377612:p.Glu540*		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.E550*	ENST00000394048.5	37	c.1648	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.909780	0.97093	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	.	.	.	5.28	5.28	0.74379	.	0.046847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8273	16.2109	0.82158	0.0:0.0:1.0:0.0	.	.	.	.	X	540;494;550;550	.	ENSP00000267113:E550X	E	+	1	0	ESYT1	54814465	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	4.784000	0.62411	2.633000	0.89246	0.655000	0.94253	GAG	ESYT1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.507	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	G	NM_015292		56528198	+1	no_errors	ENST00000267113	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ESYT2	57488	genome.wustl.edu	37	7	158526571	158526571	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:158526571C>T	ENST00000251527.5	-	0	3074				ESYT2_ENST00000435514.2_3'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2						endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TAGTATACCTCAGTGATATAT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.*327G>A	7.37:g.158526571C>T			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	RNA	SNP	-	NULL	ENST00000251527.5	37	NULL	CCDS34791.1	7																																																																																			ESYT2	-	-		0.378	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	C	NM_020728		158526571	-1	no_errors	ENST00000471192	ensembl	human	known	70_37	rna	SNP	0.988	T
ETV6	2120	genome.wustl.edu	37	12	11905486	11905486	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:11905486G>C	ENST00000396373.4	+	2	410	c.136G>C	c.(136-138)Gac>Cac	p.D46H	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	46	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GATGGAGGAAGACTCGATCCG	0.617			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	0													59.0	55.0	56.0					12																	11905486		2203	4300	6503	SO:0001583	missense	2120			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.136G>C	12.37:g.11905486G>C	ENSP00000379658:p.Asp46His		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.D46H	ENST00000396373.4	37	c.136	CCDS8643.1	12	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910541	0.92107	.	.	ENSG00000139083	ENST00000396373;ENST00000545027	T;T	0.31769	1.48;1.48	5.73	5.73	0.89815	Sterile alpha motif/pointed domain (1);Pointed domain (3);	0.219536	0.48286	D	0.000192	T	0.37100	0.0991	L	0.42245	1.32	0.51767	D	0.999937	P	0.46142	0.873	P	0.49140	0.601	T	0.01966	-1.1238	10	0.14252	T	0.57	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	46	P41212	ETV6_HUMAN	H	46;18	ENSP00000379658:D46H;ENSP00000441463:D18H	ENSP00000379658:D46H	D	+	1	0	ETV6	11796753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.746000	0.74866	2.708000	0.92522	0.655000	0.94253	GAC	ETV6	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.617	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	G	NM_001987		11905486	+1	no_errors	ENST00000396373	ensembl	human	known	70_37	missense	SNP	1.000	C
EVC2	132884	genome.wustl.edu	37	4	5620249	5620249	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:5620249C>T	ENST00000344408.5	-	15	2715	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	EVC2_ENST00000310917.2_Missense_Mutation_p.E808K|EVC2_ENST00000344938.1_Missense_Mutation_p.E888K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	888					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCACGAACTCTGCTTCTCGC	0.617																																																	0													54.0	52.0	53.0					4																	5620249		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2662G>A	4.37:g.5620249C>T	ENSP00000342144:p.Glu888Lys		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.E888K	ENST00000344408.5	37	c.2662	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056750	0.55325	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.75477	-0.94;-0.93;-0.93	5.3	4.45	0.53987	.	0.561321	0.16859	N	0.196616	T	0.71576	0.3356	L	0.34521	1.04	0.30709	N	0.749429	D	0.62365	0.991	P	0.51016	0.656	T	0.69468	-0.5137	10	0.30854	T	0.27	-28.3704	13.7894	0.63131	0.0:0.8451:0.1549:0.0	.	888	Q86UK5	LBN_HUMAN	K	888;808;888	ENSP00000339954:E888K;ENSP00000311683:E808K;ENSP00000342144:E888K	ENSP00000311683:E808K	E	-	1	0	EVC2	5671150	0.986000	0.35501	0.349000	0.25694	0.024000	0.10985	2.912000	0.48782	1.225000	0.43566	0.655000	0.94253	GAG	EVC2	-	NULL		0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5620249	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.961	T
EVC2	132884	genome.wustl.edu	37	4	5633675	5633675	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:5633675C>T	ENST00000344408.5	-	11	1608	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	EVC2_ENST00000310917.2_Missense_Mutation_p.E439K|EVC2_ENST00000344938.1_Missense_Mutation_p.E519K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	519					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AAGTCTTCTTCTTGTTGCAAA	0.473																																																	0													97.0	98.0	98.0					4																	5633675		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1555G>A	4.37:g.5633675C>T	ENSP00000342144:p.Glu519Lys		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.E519K	ENST00000344408.5	37	c.1555	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434409	0.43224	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79749	-1.3;-1.3;-1.3	4.79	3.95	0.45737	.	0.130284	0.51477	D	0.000089	D	0.85660	0.5748	M	0.65498	2.005	0.21553	N	0.999641	D	0.56968	0.978	P	0.60236	0.871	T	0.77827	-0.2443	10	0.44086	T	0.13	-10.1231	12.5693	0.56328	0.0:0.9189:0.0:0.0811	.	519	Q86UK5	LBN_HUMAN	K	519;439;519	ENSP00000339954:E519K;ENSP00000311683:E439K;ENSP00000342144:E519K	ENSP00000311683:E439K	E	-	1	0	EVC2	5684576	0.998000	0.40836	0.004000	0.12327	0.020000	0.10135	4.478000	0.60230	1.132000	0.42129	-0.422000	0.05995	GAA	EVC2	-	pfam_Limbin		0.473	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	C	NM_147127		5633675	-1	no_errors	ENST00000344408	ensembl	human	known	70_37	missense	SNP	0.400	T
EVPL	2125	genome.wustl.edu	37	17	74019720	74019720	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74019720C>T	ENST00000301607.3	-	3	467	c.214G>A	c.(214-216)Gag>Aag	p.E72K	EVPL_ENST00000586740.1_Missense_Mutation_p.E72K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	72	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCTCTGCTCACTGTTCAGC	0.672																																																	0													15.0	18.0	17.0					17																	74019720		2190	4294	6484	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.214G>A	17.37:g.74019720C>T	ENSP00000301607:p.Glu72Lys		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E72K	ENST00000301607.3	37	c.214	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	7.039	0.562249	0.13498	.	.	ENSG00000167880	ENST00000301607	T	0.17528	2.27	4.66	2.52	0.30459	.	0.491826	0.22058	N	0.065217	T	0.06371	0.0164	N	0.03608	-0.345	0.09310	N	1	B;B	0.27229	0.02;0.172	B;B	0.22386	0.004;0.039	T	0.38178	-0.9673	10	0.06757	T	0.87	-10.201	12.7953	0.57556	0.0:0.4653:0.5347:0.0	.	72;72	B7ZLH8;Q92817	.;EVPL_HUMAN	K	72	ENSP00000301607:E72K	ENSP00000301607:E72K	E	-	1	0	EVPL	71531315	0.818000	0.29161	0.357000	0.25798	0.989000	0.77384	1.557000	0.36299	0.421000	0.25980	0.561000	0.74099	GAG	EVPL	-	NULL		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74019720	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	missense	SNP	0.004	T
EXOC3L1	283849	genome.wustl.edu	37	16	67221399	67221399	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67221399C>G	ENST00000314586.6	-	5	1009	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	257	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGGCCTGCTCCAGGCCCTCC	0.687																																																	0													17.0	23.0	21.0					16																	67221399		2193	4290	6483	SO:0001583	missense	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.769G>C	16.37:g.67221399C>G	ENSP00000325674:p.Glu257Gln		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	pfam_Sec6	p.E257Q	ENST00000314586.6	37	c.769	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	C	7.862	0.726294	0.15439	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.18960	3.25;2.18	5.7	4.74	0.60224	.	0.333784	0.31323	N	0.007858	T	0.19685	0.0473	M	0.68317	2.08	0.25708	N	0.985512	P;P;B	0.39094	0.607;0.659;0.051	B;B;B	0.38880	0.187;0.284;0.045	T	0.14254	-1.0479	10	0.19147	T	0.46	-18.7804	5.0816	0.14659	0.1528:0.6215:0.1474:0.0783	.	196;196;257	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	Q	257;196;201	ENSP00000325674:E257Q;ENSP00000439910:E196Q	ENSP00000325008:E201Q	E	-	1	0	EXOC3L1	65778900	0.515000	0.26210	1.000000	0.80357	0.379000	0.30106	1.545000	0.36169	1.384000	0.46424	0.555000	0.69702	GAG	EXOC3L1	-	pfam_Sec6		0.687	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	C	NM_178516		67221399	-1	no_errors	ENST00000314586	ensembl	human	known	70_37	missense	SNP	0.991	G
EXOC3L1	283849	genome.wustl.edu	37	16	67221525	67221525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:67221525C>A	ENST00000314586.6	-	5	883	c.643G>T	c.(643-645)Gag>Tag	p.E215*	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	215	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTGGGTCCTCCCGTGCCAGC	0.692																																																	0													26.0	31.0	29.0					16																	67221525		2198	4298	6496	SO:0001587	stop_gained	283849			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.643G>T	16.37:g.67221525C>A	ENSP00000325674:p.Glu215*		A8K7I9|Q8NAD2|Q8TEN2	Nonsense_Mutation	SNP	pfam_Sec6	p.E215*	ENST00000314586.6	37	c.643	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673499	0.88445	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	.	.	.	5.84	4.89	0.63831	.	0.247959	0.40728	N	0.001025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.2991	8.5435	0.33406	0.1521:0.7708:0.0:0.0771	.	.	.	.	X	215;154;159	.	ENSP00000325008:E159X	E	-	1	0	EXOC3L1	65779026	0.462000	0.25791	0.798000	0.32154	0.943000	0.58893	1.312000	0.33574	1.478000	0.48253	0.650000	0.86243	GAG	EXOC3L1	-	pfam_Sec6		0.692	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2	C	NM_178516		67221525	-1	no_errors	ENST00000314586	ensembl	human	known	70_37	nonsense	SNP	0.181	A
EXOC5	10640	genome.wustl.edu	37	14	57699549	57699549	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:57699549C>T	ENST00000413566.2	-	10	1215				EXOC5_ENST00000340918.7_Intron	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTAAAATTCACTCCACAGT	0.259																																																	0																																										SO:0001627	intron_variant	10640			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.856-82G>A	14.37:g.57699549C>T			B2R6C5	RNA	SNP	-	NULL	ENST00000413566.2	37	NULL	CCDS45111.1	14																																																																																			EXOC5	-	-		0.259	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1	C	NM_006544		57699549	-1	no_errors	ENST00000554934	ensembl	human	putative	70_37	rna	SNP	0.000	T
EXOC8	149371	genome.wustl.edu	37	1	231472834	231472834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:231472834G>A	ENST00000360394.2	-	1	744	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	EXOC8_ENST00000366645.1_Nonsense_Mutation_p.Q216*|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	220	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CCACGCCGCTGAGGCAGCCAG	0.552																																																	0													81.0	75.0	77.0					1																	231472834		2203	4300	6503	SO:0001587	stop_gained	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.658C>T	1.37:g.231472834G>A	ENSP00000353564:p.Gln220*		B3KU33|Q5TE82	Nonsense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q220*	ENST00000360394.2	37	c.658	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.871103	0.97049	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	.	.	.	5.73	5.73	0.89815	.	0.110394	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.5678	12.9024	0.58133	0.0:0.0:0.7301:0.2699	.	.	.	.	X	220;216	.	ENSP00000353564:Q220X	Q	-	1	0	EXOC8	229539457	1.000000	0.71417	0.990000	0.47175	0.730000	0.41778	6.624000	0.74243	2.694000	0.91930	0.655000	0.94253	CAG	EXOC8	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.552	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		G	NM_175876		231472834	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EXOC8	149371	genome.wustl.edu	37	1	231473335	231473335	+	Missense_Mutation	SNP	C	C	T	rs139487910		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:231473335C>T	ENST00000360394.2	-	1	243	c.157G>A	c.(157-159)Gag>Aag	p.E53K	EXOC8_ENST00000366645.1_Missense_Mutation_p.E49K|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	53					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E53K(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCCGTCTCCTCCGCCAGCGCC	0.637																																																	1	Substitution - Missense(1)	skin(1)											44.0	38.0	40.0					1																	231473335		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.157G>A	1.37:g.231473335C>T	ENSP00000353564:p.Glu53Lys		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E53K	ENST00000360394.2	37	c.157	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.281754	0.95489	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77358	-1.09;-1.08	5.39	5.39	0.77823	.	0.060898	0.64402	D	0.000003	T	0.70753	0.3260	L	0.50333	1.59	0.80722	D	1	P	0.37914	0.611	B	0.34536	0.185	T	0.68526	-0.5385	10	0.07813	T	0.8	-29.2115	19.3561	0.94414	0.0:1.0:0.0:0.0	.	53	Q8IYI6	EXOC8_HUMAN	K	53;49	ENSP00000353564:E53K;ENSP00000355605:E49K	ENSP00000353564:E53K	E	-	1	0	EXOC8	229539958	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.435000	0.80391	2.810000	0.96702	0.650000	0.86243	GAG	EXOC8	-	pfam_Vps51		0.637	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		C	NM_175876		231473335	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	1.000	T
EZH2	2146	genome.wustl.edu	37	7	148506428	148506428	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:148506428G>A	ENST00000460911.1	-	18	2157	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	EZH2_ENST00000483967.1_Missense_Mutation_p.S681L|EZH2_ENST00000476773.1_Missense_Mutation_p.S639L|EZH2_ENST00000320356.2_Missense_Mutation_p.S695L|EZH2_ENST00000541220.1_Missense_Mutation_p.S639L|EZH2_ENST00000350995.2_Missense_Mutation_p.S651L|EZH2_ENST00000478654.1_Missense_Mutation_p.S639L			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	690	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGGATTTACCGAATGATTTGC	0.388			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													133.0	129.0	130.0					7																	148506428		2203	4300	6503	SO:0001583	missense	2146				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2069C>T	7.37:g.148506428G>A	ENSP00000419711:p.Ser690Leu		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.S695L	ENST00000460911.1	37	c.2084	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	g	34	5.339715	0.95783	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94897	-3.55;-2.45;-2.45;-2.45;-3.55;-3.55;-2.45	5.31	5.31	0.75309	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.997;0.999	D;D;D;D;D	0.91635	0.946;0.977;0.999;0.928;0.994	D	0.98900	1.0776	10	0.66056	D	0.02	.	18.9955	0.92810	0.0:0.0:1.0:0.0	.	681;639;690;651;695	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	L	639;695;690;651;639;639;681	ENSP00000417062:S639L;ENSP00000320147:S695L;ENSP00000419711:S690L;ENSP00000223193:S651L;ENSP00000443219:S639L;ENSP00000419050:S639L;ENSP00000419856:S681L	ENSP00000320147:S695L	S	-	2	0	EZH2	148137361	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.553000	0.98118	2.478000	0.83669	0.655000	0.94253	TCG	EZH2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	G	NM_004456		148506428	-1	no_errors	ENST00000320356	ensembl	human	known	70_37	missense	SNP	1.000	A
F8A1	8263	genome.wustl.edu	37	X	154115607	154115607	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:154115607C>G	ENST00000369446.2	+	1	973	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	F8_ENST00000330287.6_5'Flank|MIR1184-1_ENST00000408606.1_RNA|F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2	P23610	F8I2_HUMAN	coagulation factor VIII-associated 1	320						nucleus (GO:0005634)				endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGCTCTTTCTGCTGCTCCA	0.602																																																	0													1.0	1.0	1.0					X																	154115607		41	331	372	SO:0001583	missense	8263			M34677	CCDS35459.1	Xq28	2014-01-28	2011-04-13	2004-11-02	ENSG00000197932	ENSG00000277203			3547	protein-coding gene	gene with protein product		305423	"""coagulation factor VIII-associated (intronic transcript) 1"""	F8A		2110545	Standard	NM_012151		Approved	DXS522E	uc004fmv.3	P23610	OTTHUMG00000013500	ENST00000369446.2:c.958C>G	X.37:g.154115607C>G	ENSP00000358456:p.Leu320Val		Q5HY66|Q8IXP3	Missense_Mutation	SNP	NULL	p.L320V	ENST00000369446.2	37	c.958	CCDS35459.1	X	.	.	.	.	.	.	.	.	.	.	c	10.77	1.444634	0.25987	.	.	ENSG00000197932	ENST00000369446	T	0.21932	1.98	2.41	1.53	0.23141	.	0.000000	0.49305	U	0.000146	T	0.31827	0.0809	M	0.67397	2.05	0.41657	D	0.989162	D	0.61697	0.99	P	0.56398	0.797	T	0.06320	-1.0833	10	0.72032	D	0.01	-16.5362	6.6182	0.22788	0.0:0.8371:0.0:0.1629	.	320	P23610	F8I2_HUMAN	V	320	ENSP00000358456:L320V	ENSP00000358456:L320V	L	+	1	2	F8A1	153768801	1.000000	0.71417	0.982000	0.44146	0.127000	0.20565	3.277000	0.51654	0.458000	0.26988	0.478000	0.44815	CTG	F8A1	-	NULL		0.602	F8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8A1	HGNC	protein_coding	OTTHUMT00000037637.2	C	NM_012151		154115607	+1	no_errors	ENST00000369446	ensembl	human	known	70_37	missense	SNP	0.962	G
F8	2157	genome.wustl.edu	37	X	154175986	154175986	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:154175986C>G	ENST00000360256.4	-	13	2300	c.2100G>C	c.(2098-2100)tcG>tcC	p.S700S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTTTTCCATCGACATGAAGA	0.413																																																	0													142.0	135.0	137.0					X																	154175986		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2100G>C	X.37:g.154175986C>G			Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S700	ENST00000360256.4	37	c.2100	CCDS35457.1	X																																																																																			F8	-	superfamily_Cupredoxin		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	C			154175986	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	silent	SNP	0.694	G
FADS6	283985	genome.wustl.edu	37	17	72889632	72889632	+	Missense_Mutation	SNP	C	C	G	rs553427101	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72889632C>G	ENST00000310226.6	-	1	76	c.62G>C	c.(61-63)cGt>cCt	p.R21P		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	27					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCGCCCCCACGGTGCGCGCT	0.716																																																	0													11.0	15.0	14.0					17																	72889632		2152	4253	6405	SO:0001583	missense	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.62G>C	17.37:g.72889632C>G	ENSP00000307821:p.Arg21Pro		Q17RQ7|Q6XYE1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1	p.R21P	ENST00000310226.6	37	c.62	CCDS54163.1	17	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865262	0.32977	.	.	ENSG00000172782	ENST00000310226	.	.	.	3.61	-3.64	0.04515	.	0.460178	0.19317	U	0.117252	T	0.13030	0.0316	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08027	-1.0742	9	0.30078	T	0.28	-0.5834	1.4709	0.02415	0.1463:0.3362:0.3025:0.215	.	27	Q8N9I5	FADS6_HUMAN	P	21	.	ENSP00000307821:R21P	R	-	2	0	FADS6	70401227	0.605000	0.26941	0.001000	0.08648	0.353000	0.29299	0.000000	0.12993	-0.547000	0.06207	0.297000	0.19635	CGT	FADS6	-	NULL		0.716	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889632	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	missense	SNP	0.000	G
FADS6	283985	genome.wustl.edu	37	17	72889643	72889643	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:72889643C>T	ENST00000310226.6	-	1	65	c.51G>A	c.(49-51)cgG>cgA	p.R17R		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	23	3 X 6 AA tandem repeat of M-E-P-T-E-P.				fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GGTGCGCGCTCCGCGCCGGTT	0.716																																																	0													11.0	16.0	14.0					17																	72889643		2134	4244	6378	SO:0001819	synonymous_variant	283985			AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.51G>A	17.37:g.72889643C>T			Q17RQ7|Q6XYE1	Silent	SNP	pfam_Fatty_acid_desaturase-1	p.R17	ENST00000310226.6	37	c.51	CCDS54163.1	17																																																																																			FADS6	-	NULL		0.716	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS6	HGNC	protein_coding	OTTHUMT00000445219.1	C			72889643	-1	no_errors	ENST00000310226	ensembl	human	known	70_37	silent	SNP	0.000	T
AMER3	205147	genome.wustl.edu	37	2	131521047	131521047	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:131521047G>A	ENST00000423981.1	+	2	1512	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	AMER3_ENST00000321420.4_Missense_Mutation_p.E468K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	468					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGGGGCCGAGGAGAACTTGGC	0.637																																																	0													27.0	29.0	29.0					2																	131521047		2202	4300	6502	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1402G>A	2.37:g.131521047G>A	ENSP00000392700:p.Glu468Lys		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E468K	ENST00000423981.1	37	c.1402	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737919	0.89573	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.56103	0.48;0.48	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000076	T	0.63367	0.2505	L	0.32530	0.975	0.41765	D	0.989735	D	0.89917	1.0	D	0.80764	0.994	T	0.67011	-0.5778	10	0.87932	D	0	.	16.5146	0.84296	0.0:0.0:1.0:0.0	.	468	Q8N944	F123C_HUMAN	K	468	ENSP00000314914:E468K;ENSP00000392700:E468K	ENSP00000314914:E468K	E	+	1	0	FAM123C	131237517	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.565000	0.82337	2.571000	0.86741	0.561000	0.74099	GAG	FAM123C	-	NULL		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	G	NM_152698		131521047	+1	no_errors	ENST00000321420	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM133A	286499	genome.wustl.edu	37	X	92965019	92965019	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:92965019G>A	ENST00000355813.5	+	4	1127	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	FAM133A_ENST00000538690.1_Missense_Mutation_p.E201K|FAM133A_ENST00000332647.4_Missense_Mutation_p.E201K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E201K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	201	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATCAGATTATGAAGAGGATGT	0.363																																																	0													26.0	24.0	24.0					X																	92965019		2203	4298	6501	SO:0001583	missense	286499			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.601G>A	X.37:g.92965019G>A	ENSP00000348067:p.Glu201Lys			Missense_Mutation	SNP	NULL	p.E201K	ENST00000355813.5	37	c.601	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	3.394	-0.123788	0.06795	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	3.0	2.13	0.27403	.	0.512841	0.20173	N	0.097695	T	0.21347	0.0514	N	0.12182	0.205	0.19300	N	0.999975	B	0.09022	0.002	B	0.08055	0.003	T	0.21008	-1.0258	10	0.07482	T	0.82	.	5.3471	0.16016	0.1633:0.0:0.8367:0.0	.	201	Q8N9E0	F133A_HUMAN	K	201	ENSP00000441389:E201K;ENSP00000348067:E201K;ENSP00000318974:E201K;ENSP00000362169:E201K	ENSP00000318974:E201K	E	+	1	0	FAM133A	92851675	0.993000	0.37304	0.996000	0.52242	0.884000	0.51177	1.382000	0.34374	0.668000	0.31126	0.597000	0.82753	GAA	FAM133A	-	NULL		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	G	NM_173698		92965019	+1	no_errors	ENST00000322139	ensembl	human	known	70_37	missense	SNP	0.996	A
FAM133B	257415	genome.wustl.edu	37	7	92206487	92206487	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:92206487C>T	ENST00000445716.1	-	7	497	c.395G>A	c.(394-396)aGa>aAa	p.R132K	FAM133B_ENST00000427372.1_Missense_Mutation_p.R122K|FAM133B_ENST00000438306.1_Missense_Mutation_p.R122K	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	132	Lys-rich.|Ser-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTTTTCTTTCTCCGTTTTCC	0.254																																																	0													7.0	6.0	6.0					7																	92206487		1653	3659	5312	SO:0001583	missense	257415				CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.395G>A	7.37:g.92206487C>T	ENSP00000398401:p.Arg132Lys		B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	NULL	p.R132K	ENST00000445716.1	37	c.395	CCDS47640.1	7	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471120	0.12461	.	.	ENSG00000234545	ENST00000438306;ENST00000445716;ENST00000427372;ENST00000494079	T;T;T	0.44881	0.91;0.98;0.91	5.4	2.44	0.29823	.	.	.	.	.	T	0.18130	0.0435	N	0.05574	-0.02	0.24591	N	0.993822	B	0.02656	0.0	B	0.04013	0.001	T	0.26608	-1.0098	9	0.02654	T	1	-1.1064	8.2595	0.31777	0.0:0.6624:0.0:0.3376	.	132	Q5BKY9	F133B_HUMAN	K	122;132;122;29	ENSP00000389783:R122K;ENSP00000398401:R132K;ENSP00000402843:R122K	ENSP00000402843:R122K	R	-	2	0	FAM133B	92044423	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	0.070000	0.14573	0.674000	0.31244	0.650000	0.86243	AGA	FAM133B	-	NULL		0.254	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133B	HGNC	protein_coding	OTTHUMT00000342181.2	C	NM_001040057		92206487	-1	no_errors	ENST00000445716	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM178A	55719	genome.wustl.edu	37	10	102675791	102675791	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:102675791C>G	ENST00000238961.4	+	2	718	c.176C>G	c.(175-177)tCa>tGa	p.S59*	FAM178A_ENST00000370269.3_Nonsense_Mutation_p.S59*|FAM178A_ENST00000370271.3_Nonsense_Mutation_p.S59*	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	59						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAACCAGCTTCAAAACAAGGT	0.328																																																	0													143.0	149.0	147.0					10																	102675791		2203	4300	6503	SO:0001587	stop_gained	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.176C>G	10.37:g.102675791C>G	ENSP00000238961:p.Ser59*		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Nonsense_Mutation	SNP	NULL	p.S59*	ENST00000238961.4	37	c.176	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559585	0.86335	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	.	.	.	5.65	4.73	0.59995	.	0.391934	0.18981	N	0.125872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.5638	8.3255	0.32153	0.0:0.7588:0.1583:0.0829	.	.	.	.	X	59	.	ENSP00000238961:S59X	S	+	2	0	FAM178A	102665781	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	1.554000	0.36266	1.481000	0.48307	0.650000	0.86243	TCA	FAM178A	-	NULL		0.328	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102675791	+1	no_errors	ENST00000370269	ensembl	human	known	70_37	nonsense	SNP	1.000	G
FAM183B	340286	genome.wustl.edu	37	7	38725348	38725348	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:38725348C>T	ENST00000409072.3	-	2	1192	c.258G>A	c.(256-258)caG>caA	p.Q86Q				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	86										endometrium(1)|lung(7)	8						GGTTTTCAGTCTGTGCCTCCG	0.547																																																	0													135.0	136.0	136.0					7																	38725348		1950	4139	6089	SO:0001819	synonymous_variant	340286			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.258G>A	7.37:g.38725348C>T			A4D1Y1	Silent	SNP	NULL	p.Q86	ENST00000409072.3	37	c.258		7																																																																																			FAM183B	-	NULL		0.547	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	FAM183B	HGNC	protein_coding	OTTHUMT00000331972.1	C	NM_001105282		38725348	-1	no_errors	ENST00000409072	ensembl	human	novel	70_37	silent	SNP	0.007	T
TVP23A	780776	genome.wustl.edu	37	16	10855187	10855187	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:10855187G>C	ENST00000572980.1	-	0	1162				NUBP1_ENST00000433392.2_Intron|NUBP1_ENST00000283027.5_Intron|NUBP1_ENST00000571790.1_Intron			A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)							integral component of membrane (GO:0016021)											CTCGCACTTTGATGCTGGAAT	0.507																																																	0													52.0	46.0	48.0					16																	10855187		2197	4300	6497	SO:0001623	5_prime_UTR_variant	780776				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000572980.1:c.-412C>G	16.37:g.10855187G>C			B2RUV4|B7ZW18	RNA	SNP	-	NULL	ENST00000572980.1	37	NULL		16																																																																																			FAM18A	-	-		0.507	TVP23A-007	KNOWN	basic	processed_transcript	FAM18A	HGNC	protein_coding	OTTHUMT00000436674.1	G	NM_001079512		10855187	-1	no_errors	ENST00000572980	ensembl	human	known	70_37	rna	SNP	0.013	C
FAM193A	8603	genome.wustl.edu	37	4	2632821	2632821	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:2632821C>G	ENST00000324666.5	+	3	441	c.90C>G	c.(88-90)ttC>ttG	p.F30L	FAM193A_ENST00000502458.1_Missense_Mutation_p.F30L|FAM193A_ENST00000545951.1_Missense_Mutation_p.F30L|FAM193A_ENST00000505311.1_Missense_Mutation_p.F30L|FAM193A_ENST00000382839.3_Missense_Mutation_p.F30L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	30										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CGCACCAGTTCATCTCCCTCC	0.617																																																	0													51.0	52.0	52.0					4																	2632821		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.90C>G	4.37:g.2632821C>G	ENSP00000324587:p.Phe30Leu		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.F30L	ENST00000324666.5	37	c.90	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619377	0.87460	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.62639	0.04;0.41;0.01;0.98	5.56	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.61703	1.905	0.58432	D	0.999994	P;P;P;P;P	0.46784	0.884;0.884;0.884;0.734;0.884	P;P;P;B;P	0.55455	0.776;0.776;0.776;0.391;0.776	T	0.69165	-0.5217	10	0.72032	D	0.01	-16.4408	8.0531	0.30589	0.0:0.7073:0.0:0.2927	.	30;30;30;30;30	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	L	30	ENSP00000372290:F30L;ENSP00000324587:F30L;ENSP00000443617:F30L;ENSP00000427505:F30L	ENSP00000324587:F30L	F	+	3	2	FAM193A	2602619	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.990000	0.49401	0.988000	0.38734	0.655000	0.94253	TTC	FAM193A	-	NULL		0.617	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2632821	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM47B	170062	genome.wustl.edu	37	X	34962239	34962239	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:34962239G>A	ENST00000329357.5	+	1	1327	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	431										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACCAAGACCGGAGCGTCCCA	0.537																																																	0													79.0	73.0	75.0					X																	34962239		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1291G>A	X.37:g.34962239G>A	ENSP00000328307:p.Gly431Arg		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.G431R	ENST00000329357.5	37	c.1291	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304622	0.01353	.	.	ENSG00000189132	ENST00000329357	T	0.11169	2.8	0.489	-0.583	0.11706	.	.	.	.	.	T	0.04227	0.0117	N	0.13098	0.295	0.09310	N	1	B	0.29627	0.252	B	0.21708	0.036	T	0.44452	-0.9327	8	0.10377	T	0.69	.	.	.	.	.	431	Q8NA70	FA47B_HUMAN	R	431	ENSP00000328307:G431R	ENSP00000328307:G431R	G	+	1	0	FAM47B	34872160	0.187000	0.23238	0.001000	0.08648	0.022000	0.10575	1.271000	0.33098	-0.407000	0.07576	0.190000	0.17370	GGA	FAM47B	-	NULL		0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	G	NM_152631		34962239	+1	no_errors	ENST00000329357	ensembl	human	known	70_37	missense	SNP	0.001	A
FAM47C	442444	genome.wustl.edu	37	X	37028026	37028026	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:37028026T>C	ENST00000358047.3	+	1	1595	c.1543T>C	c.(1543-1545)Tct>Cct	p.S515P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	515										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTTCTGAGACTGG	0.612																																																	0													85.0	82.0	83.0					X																	37028026		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1543T>C	X.37:g.37028026T>C	ENSP00000367913:p.Ser515Pro		Q6ZU46	Missense_Mutation	SNP	NULL	p.S515P	ENST00000358047.3	37	c.1543	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.341336	0.01277	.	.	ENSG00000198173	ENST00000358047	T	0.07327	3.2	0.993	-1.99	0.07457	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41161	-0.9524	9	0.02654	T	1	.	2.8379	0.05520	0.2105:0.4234:0.0:0.3661	.	515	Q5HY64	FA47C_HUMAN	P	515	ENSP00000367913:S515P	ENSP00000367913:S515P	S	+	1	0	FAM47C	36937947	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.092000	0.01354	-1.920000	0.01069	-0.706000	0.03657	TCT	FAM47C	-	NULL		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	T	NM_001013736		37028026	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.002	C
FAM69A	388650	genome.wustl.edu	37	1	93309606	93309606	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:93309606C>T	ENST00000370310.4	-	5	691	c.621G>A	c.(619-621)gtG>gtA	p.V207V	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	207						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CTTGAAGTATCACCATGAGAA	0.428																																																	0													73.0	59.0	63.0					1																	93309606		692	1591	2283	SO:0001819	synonymous_variant	388650			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.621G>A	1.37:g.93309606C>T			Q6IRV2	Silent	SNP	pfam_Uncharacterised_FAM69	p.V207	ENST00000370310.4	37	c.621	CCDS44173.1	1																																																																																			FAM69A	-	pfam_Uncharacterised_FAM69		0.428	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	HGNC	protein_coding	OTTHUMT00000030046.2	C	NM_001006605		93309606	-1	no_errors	ENST00000370310	ensembl	human	known	70_37	silent	SNP	0.985	T
FAM83D	81610	genome.wustl.edu	37	20	37580927	37580927	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:37580927C>T	ENST00000217429.4	+	4	1653	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	508					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGGCTATCCCAAGTACCT	0.527																																																	0													53.0	55.0	54.0					20																	37580927		1928	4118	6046	SO:0001583	missense	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1612C>T	20.37:g.37580927C>T	ENSP00000217429:p.Pro538Ser		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	pfam_DUF1669	p.P538S	ENST00000217429.4	37	c.1612	CCDS42872.1	20	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546415	0.27652	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12465	2.68	5.91	-3.12	0.05282	.	0.679415	0.14479	N	0.317048	T	0.10208	0.0250	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26467	-1.0102	10	0.37606	T	0.19	.	2.9226	0.05774	0.0933:0.2011:0.3152:0.3904	.	508	Q9H4H8	FA83D_HUMAN	S	538;492	ENSP00000217429:P538S	ENSP00000217429:P538S	P	+	1	0	FAM83D	37014341	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-1.244000	0.02902	-0.508000	0.06540	-0.165000	0.13383	CCC	FAM83D	-	NULL		0.527	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83D	HGNC	protein_coding	OTTHUMT00000079211.1	C			37580927	+1	no_errors	ENST00000217429	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM83G	644815	genome.wustl.edu	37	17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*		Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	G			18907093	-1	no_errors	ENST00000345041	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FAM84B	157638	genome.wustl.edu	37	8	127569296	127569296	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:127569296G>C	ENST00000304916.3	-	2	794	c.339C>G	c.(337-339)ctC>ctG	p.L113L	RP11-89K10.1_ENST00000520512.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	113						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCACTTGTTGAGCAGGTTCT	0.612																																																	0													26.0	29.0	28.0					8																	127569296		2202	4298	6500	SO:0001819	synonymous_variant	157638			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.339C>G	8.37:g.127569296G>C				Silent	SNP	pfam_LRAT-like_dom	p.L113	ENST00000304916.3	37	c.339	CCDS6358.1	8																																																																																			FAM84B	-	NULL		0.612	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	G	NM_174911		127569296	-1	no_errors	ENST00000304916	ensembl	human	known	70_37	silent	SNP	1.000	C
FAM92B	339145	genome.wustl.edu	37	16	85135832	85135832	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:85135832C>G	ENST00000539556.1	-	7	794	c.639G>C	c.(637-639)gaG>gaC	p.E213D		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	213										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GTAGATCCCTCTCCAGGTCAT	0.448																																																	0													96.0	91.0	93.0					16																	85135832		2198	4300	6498	SO:0001583	missense	339145				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.639G>C	16.37:g.85135832C>G	ENSP00000443411:p.Glu213Asp			Missense_Mutation	SNP	pfam_FAM92	p.E213D	ENST00000539556.1	37	c.639	CCDS32500.1	16	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453273	0.12283	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.38560	1.13	5.78	-1.97	0.07503	.	0.152767	0.43919	N	0.000501	T	0.33614	0.0869	M	0.65320	2	0.19300	N	0.999979	P	0.35107	0.484	B	0.38225	0.268	T	0.18304	-1.0341	10	0.37606	T	0.19	-29.0554	4.7635	0.13121	0.0:0.2548:0.3012:0.444	.	213	Q6ZTR7	FA92B_HUMAN	D	213	ENSP00000443411:E213D	ENSP00000376937:E213D	E	-	3	2	FAM92B	83693333	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	-0.147000	0.10234	-0.140000	0.11394	-0.300000	0.09419	GAG	FAM92B	-	pfam_FAM92		0.448	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92B	HGNC	protein_coding		C	NM_198491		85135832	-1	no_errors	ENST00000539556	ensembl	human	known	70_37	missense	SNP	0.059	G
FANCI	55215	genome.wustl.edu	37	15	89807819	89807819	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:89807819G>C	ENST00000310775.7	+	9	822	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	FANCI_ENST00000451393.2_Missense_Mutation_p.E67Q|FANCI_ENST00000300027.8_Missense_Mutation_p.E246Q|FANCI_ENST00000567996.1_Missense_Mutation_p.E246Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	246					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAGCACAATGAGGAACAGAG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													104.0	90.0	95.0					15																	89807819		2200	4299	6499	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.736G>C	15.37:g.89807819G>C	ENSP00000310842:p.Glu246Gln		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.E246Q	ENST00000310775.7	37	c.736	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566720	0.65651	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611;ENST00000451393	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.02	5.1	0.69264	.	0.052037	0.85682	D	0.000000	T	0.56307	0.1976	M	0.62723	1.935	0.47341	D	0.999393	B;D;D	0.76494	0.179;0.999;0.997	B;D;P	0.67725	0.109;0.953;0.891	T	0.53387	-0.8446	10	0.23302	T	0.38	-10.6294	11.4193	0.49971	0.1375:0.0:0.8625:0.0	.	246;246;246	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	246;246;246;67	ENSP00000300027:E246Q;ENSP00000310842:E246Q;ENSP00000413249:E246Q;ENSP00000390764:E67Q	ENSP00000300027:E246Q	E	+	1	0	FANCI	87608823	1.000000	0.71417	0.345000	0.25642	0.832000	0.47134	5.251000	0.65438	1.552000	0.49463	0.650000	0.86243	GAG	FANCI	-	NULL		0.353	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	G	NM_018193		89807819	+1	no_errors	ENST00000310775	ensembl	human	known	70_37	missense	SNP	0.972	C
FARSA	2193	genome.wustl.edu	37	19	13033634	13033634	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13033634C>T	ENST00000314606.4	-	13	1473	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	FARSA_ENST00000423140.2_Silent_p.Q454Q|FARSA_ENST00000588025.1_Silent_p.Q525Q|MIR5695_ENST00000579717.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	485					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CATACACCATCTGCAGGTTCA	0.577																																																	0													187.0	151.0	163.0					19																	13033634		2203	4300	6503	SO:0001819	synonymous_variant	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1455G>A	19.37:g.13033634C>T			B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.Q485	ENST00000314606.4	37	c.1455	CCDS12287.1	19																																																																																			FARSA	-	pfscan_aa-tRNA-synth_II		0.577	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1	C	NM_004461		13033634	-1	no_errors	ENST00000314606	ensembl	human	known	70_37	silent	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80040815	80040815	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80040815C>T	ENST00000306749.2	-	33	5960	c.5742G>A	c.(5740-5742)ttG>ttA	p.L1914L	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1914	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCGAGAAGTCAACACGAGCT	0.667																																					Colon(59;314 1043 11189 28578 32273)												0													75.0	63.0	67.0					17																	80040815		2199	4297	6496	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5742G>A	17.37:g.80040815C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1914	ENST00000306749.2	37	c.5742	CCDS11801.1	17																																																																																			FASN	-	pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80040815	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	1.000	T
FBN2	2201	genome.wustl.edu	37	5	127697517	127697517	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:127697517C>G	ENST00000508053.1	-	25	3427	c.2453G>C	c.(2452-2454)aGa>aCa	p.R818T	FBN2_ENST00000508989.1_Missense_Mutation_p.R785T|FBN2_ENST00000262464.4_Missense_Mutation_p.R818T			P35556	FBN2_HUMAN	fibrillin 2	818	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAAAGCAGTCTGTTTACTAA	0.418																																																	0													183.0	158.0	167.0					5																	127697517		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2453G>C	5.37:g.127697517C>G	ENSP00000424571:p.Arg818Thr		B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R818T	ENST00000508053.1	37	c.2453	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101534	0.20632	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91577	-2.87;-2.87;-2.87	4.67	4.67	0.58626	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.137192	0.49305	D	0.000158	T	0.81278	0.4789	N	0.05280	-0.08	0.42082	D	0.991254	P;B	0.45283	0.855;0.017	B;B	0.41988	0.372;0.025	T	0.80094	-0.1526	10	0.13853	T	0.58	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	785;818	D6RJI3;P35556	.;FBN2_HUMAN	T	818;818;785	ENSP00000262464:R818T;ENSP00000424571:R818T;ENSP00000425596:R785T	ENSP00000262464:R818T	R	-	2	0	FBN2	127725416	0.982000	0.34865	0.998000	0.56505	0.277000	0.26821	3.782000	0.55401	2.882000	0.98803	0.655000	0.94253	AGA	FBN2	-	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127697517	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	G
FAT2	2196	genome.wustl.edu	37	5	150947186	150947186	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:150947186G>C	ENST00000261800.5	-	1	1319	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	436	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S436L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCCCGGTGAGGTTCTGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											131.0	127.0	128.0					5																	150947186		2203	4300	6503	SO:0001587	stop_gained	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1307C>G	5.37:g.150947186G>C	ENSP00000261800:p.Ser436*		O75091|Q9NSR7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S436*	ENST00000261800.5	37	c.1307	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691329	0.88735	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.59	5.59	0.84812	.	0.334395	0.25729	N	0.028695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.7496	0.77972	0.0:0.2739:0.7261:0.0	.	.	.	.	X	436	.	ENSP00000261800:S436X	S	-	2	0	FAT2	150927379	0.066000	0.20996	0.247000	0.24249	0.514000	0.34195	1.745000	0.38278	2.642000	0.89623	0.561000	0.74099	TCA	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150947186	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	nonsense	SNP	0.266	C
FBP1	2203	genome.wustl.edu	37	9	97369154	97369154	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:97369154G>A	ENST00000375326.4	-	5	844	c.648C>T	c.(646-648)taC>taT	p.Y216Y	FBP1_ENST00000415431.1_Silent_p.Y216Y	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	216	Substrate binding.				carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AGTCCCTGGCGTAGCCCTCGT	0.512																																					Ovarian(142;590 2466 25593 44496)												0													125.0	114.0	118.0					9																	97369154		2203	4300	6503	SO:0001819	synonymous_variant	2203			M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.648C>T	9.37:g.97369154G>A			O75571|Q53F94|Q96E46	Silent	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase	p.Y216	ENST00000375326.4	37	c.648	CCDS6712.1	9																																																																																			FBP1	-	pfam_FBPase_class-1/SBPase,prints_FBPase_class-1/SBPase		0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP1	HGNC	protein_coding	OTTHUMT00000053187.1	G	NM_000507		97369154	-1	no_errors	ENST00000375326	ensembl	human	known	70_37	silent	SNP	0.837	A
FBRSL1	57666	genome.wustl.edu	37	12	133148877	133148877	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:133148877G>C	ENST00000434748.2	+	10	2455	c.1435G>C	c.(1435-1437)Gac>Cac	p.D479H	FBRSL1_ENST00000261673.6_Missense_Mutation_p.D406H	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1	479	Pro-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						CTTCCAGTTTGACAAGTATGC	0.682																																																	0													114.0	108.0	109.0					12																	133148877		692	1591	2283	SO:0001583	missense	57666				CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.1435G>C	12.37:g.133148877G>C	ENSP00000396160:p.Asp479His		Q86XQ1	Missense_Mutation	SNP	prints_AUTS2	p.D479H	ENST00000434748.2	37	c.1435	CCDS45010.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504998	0.85282	.	.	ENSG00000112787	ENST00000434748;ENST00000261673	T;T	0.51574	0.7;0.7	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73483	-0.3968	10	0.87932	D	0	-37.6002	17.674	0.88225	0.0:0.0:1.0:0.0	.	479	Q9HCM7	FBSL_HUMAN	H	479;406	ENSP00000396160:D479H;ENSP00000261673:D406H	ENSP00000261673:D406H	D	+	1	0	FBRSL1	131658950	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.022000	0.93678	2.263000	0.75096	0.561000	0.74099	GAC	FBRSL1	-	NULL		0.682	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBRSL1	HGNC	protein_coding	OTTHUMT00000397404.2	G			133148877	+1	no_errors	ENST00000434748	ensembl	human	known	70_37	missense	SNP	1.000	C
FBXL16	146330	genome.wustl.edu	37	16	745029	745029	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:745029G>A	ENST00000397621.1	-	4	1521	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	FBXL16_ENST00000562563.1_Missense_Mutation_p.S185L|LA16c-313D11.12_ENST00000566927.1_RNA|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000324361.5_Missense_Mutation_p.S397L	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	397										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCGGAGGGACGACATGGTGGA	0.667																																																	0													73.0	70.0	71.0					16																	745029		2199	4297	6496	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.1190C>T	16.37:g.745029G>A	ENSP00000380746:p.Ser397Leu		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.S397L	ENST00000397621.1	37	c.1190	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	g	9.605	1.129704	0.21041	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.02395	4.31;4.31	4.94	4.94	0.65067	.	0.134965	0.52532	D	0.000067	T	0.02929	0.0087	L	0.31294	0.92	0.53688	D	0.999976	B	0.19706	0.038	B	0.06405	0.002	T	0.48927	-0.8991	10	0.09590	T	0.72	.	17.1416	0.86755	0.0:0.0:1.0:0.0	.	397	Q8N461	FXL16_HUMAN	L	397	ENSP00000380746:S397L;ENSP00000318674:S397L	ENSP00000318674:S397L	S	-	2	0	FBXL16	685030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.125000	0.94402	2.286000	0.76751	0.555000	0.69702	TCG	FBXL16	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.667	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2	G	NM_153350		745029	-1	no_errors	ENST00000324361	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO10	26267	genome.wustl.edu	37	9	37537857	37537857	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:37537857C>T	ENST00000432825.2	-	3	717	c.669G>A	c.(667-669)gtG>gtA	p.V223V	FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	223					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TACAGAACTTCACTTGGCAAG	0.483																																																	0													86.0	87.0	87.0					9																	37537857		1962	4130	6092	SO:0001819	synonymous_variant	26267			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.669G>A	9.37:g.37537857C>T			Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2	p.V223	ENST00000432825.2	37	c.669	CCDS47966.1	9																																																																																			FBXO10	-	superfamily_Pectin_lyase_fold/virulence		0.483	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	C			37537857	-1	no_errors	ENST00000432825	ensembl	human	known	70_37	silent	SNP	0.996	T
FCGBP	8857	genome.wustl.edu	37	19	40411960	40411960	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:40411960G>T	ENST00000221347.6	-	7	3675	c.3668C>A	c.(3667-3669)tCc>tAc	p.S1223Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1223	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACTCACAGGACACCAGGCC	0.677																																																	0													47.0	47.0	47.0					19																	40411960		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3668C>A	19.37:g.40411960G>T	ENSP00000221347:p.Ser1223Tyr		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S1223Y	ENST00000221347.6	37	c.3668	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326589	0.10900	.	.	ENSG00000090920	ENST00000221347	T	0.05081	3.5	4.39	3.3	0.37823	.	1.004890	0.08012	N	0.990502	T	0.21841	0.0526	M	0.73217	2.22	0.18873	N	0.999982	D	0.76494	0.999	D	0.79784	0.993	T	0.09574	-1.0668	10	0.49607	T	0.09	.	7.8472	0.29433	0.0999:0.1796:0.7205:0.0	.	1223	Q9Y6R7	FCGBP_HUMAN	Y	1223	ENSP00000221347:S1223Y	ENSP00000221347:S1223Y	S	-	2	0	FCGBP	45103800	0.049000	0.20398	0.740000	0.30986	0.114000	0.19823	0.249000	0.18216	2.278000	0.76064	0.436000	0.28706	TCC	FCGBP	-	smart_VWC_out,smart_VWF_C		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40411960	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.428	T
FERMT2	10979	genome.wustl.edu	37	14	53342042	53342042	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:53342042C>G	ENST00000395631.2	-	8	1213	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	FERMT2_ENST00000553373.1_Missense_Mutation_p.E333Q|FERMT2_ENST00000341590.3_Missense_Mutation_p.E333Q|FERMT2_ENST00000343279.4_Missense_Mutation_p.E333Q|FERMT2_ENST00000399304.3_Missense_Mutation_p.E333Q			Q96AC1	FERM2_HUMAN	fermitin family member 2	333	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAATGATTCTCTGATGTCATG	0.323																																																	0													135.0	122.0	126.0					14																	53342042		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.997G>C	14.37:g.53342042C>G	ENSP00000378993:p.Glu333Gln		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E333Q	ENST00000395631.2	37	c.997	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202928	0.58234	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);	0.094433	0.64402	D	0.000001	T	0.64907	0.2641	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.30542	0.241;0.284;0.284	B;B;B	0.39119	0.192;0.291;0.291	T	0.61392	-0.7072	10	0.14252	T	0.57	.	19.8034	0.96518	0.0:1.0:0.0:0.0	.	333;333;333	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	Q	333;333;286;333;333;333	ENSP00000378993:E333Q;ENSP00000340391:E333Q;ENSP00000450741:E286Q;ENSP00000342858:E333Q;ENSP00000451084:E333Q;ENSP00000382243:E333Q	ENSP00000340391:E333Q	E	-	1	0	FERMT2	52411792	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.760000	0.94817	0.655000	0.94253	GAG	FERMT2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain		0.323	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	C	NM_006832		53342042	-1	no_errors	ENST00000343279	ensembl	human	known	70_37	missense	SNP	1.000	G
FEZF1	389549	genome.wustl.edu	37	7	121942387	121942387	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:121942387C>T	ENST00000442488.2	-	4	1159	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L	FEZF1_ENST00000331178.4_Silent_p.L360L|FEZF1_ENST00000427185.2_Silent_p.L314L|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	364					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGCTGTGGGTCAACTTGTGGT	0.443																																																	0													120.0	108.0	112.0					7																	121942387		2203	4300	6503	SO:0001819	synonymous_variant	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1092G>A	7.37:g.121942387C>T			A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L364	ENST00000442488.2	37	c.1092	CCDS34741.2	7																																																																																			FEZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	C	NM_001024613		121942387	-1	no_errors	ENST00000442488	ensembl	human	known	70_37	silent	SNP	1.000	T
FGF6	2251	genome.wustl.edu	37	12	4554443	4554443	+	Silent	SNP	G	G	C	rs376796208		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:4554443G>C	ENST00000228837.2	-	1	337	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	98					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GGAGCACCTGGAGGTGAAAGC	0.627																																																	0													58.0	52.0	54.0					12																	4554443		2203	4300	6503	SO:0001819	synonymous_variant	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.294C>G	12.37:g.4554443G>C			Q0VAE1	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.L98	ENST00000228837.2	37	c.294	CCDS8527.1	12																																																																																			FGF6	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.627	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF6	HGNC	protein_coding	OTTHUMT00000398939.1	G	NM_020996		4554443	-1	no_errors	ENST00000228837	ensembl	human	known	70_37	silent	SNP	0.962	C
FGF9	2254	genome.wustl.edu	37	13	22275734	22275734	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:22275734G>A	ENST00000382353.5	+	0	1317				FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9						angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGAATATGCTGATTTTGTTCT	0.478																																					Melanoma(195;1939 2127 12623 13963 52730)												0																																										SO:0001624	3_prime_UTR_variant	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.*160G>A	13.37:g.22275734G>A			A8K427|Q3SY32	RNA	SNP	-	NULL	ENST00000382353.5	37	NULL	CCDS9298.1	13																																																																																			FGF9	-	-		0.478	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	G			22275734	+1	no_errors	ENST00000478546	ensembl	human	known	70_37	rna	SNP	1.000	A
FKRP	79147	genome.wustl.edu	37	19	47258885	47258885	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:47258885G>C	ENST00000318584.5	+	4	475	c.178G>C	c.(178-180)Gac>Cac	p.D60H	FKRP_ENST00000391909.3_Missense_Mutation_p.D60H|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	60					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGGCATTTGACAACGCGGT	0.706																																																	0													37.0	30.0	32.0					19																	47258885		2201	4300	6501	SO:0001583	missense	79147			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.178G>C	19.37:g.47258885G>C	ENSP00000326570:p.Asp60His		A8K5G7	Missense_Mutation	SNP	pfam_LicD	p.D60H	ENST00000318584.5	37	c.178	CCDS12691.1	19	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268325	0.80469	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99567	-6.18;-6.18	4.79	4.79	0.61399	.	0.056531	0.64402	D	0.000002	D	0.98947	0.9642	N	0.22421	0.69	0.58432	D	0.999999	D	0.65815	0.995	P	0.58660	0.843	D	0.99659	1.0993	10	0.87932	D	0	-33.5211	16.7748	0.85548	0.0:0.0:1.0:0.0	.	60	Q9H9S5	FKRP_HUMAN	H	60	ENSP00000375776:D60H;ENSP00000326570:D60H	ENSP00000326570:D60H	D	+	1	0	FKRP	51950725	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.537000	0.73847	2.491000	0.84063	0.555000	0.69702	GAC	FKRP	-	NULL		0.706	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKRP	HGNC	protein_coding	OTTHUMT00000465473.1	G	NM_024301		47258885	+1	no_errors	ENST00000318584	ensembl	human	known	70_37	missense	SNP	1.000	C
FLJ37453	729614	genome.wustl.edu	37	1	16161772	16161772	+	RNA	SNP	C	C	T	rs530658958		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:16161772C>T	ENST00000317122.1	-	0	1669				RP11-169K16.9_ENST00000535249.1_RNA	NR_024279.1																						GGACGCCCCTCAGGCCCGGGG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		13039	0.0		0.001	False		,,,				2504	0.0																0																																												729614																															1.37:g.16161772C>T				RNA	SNP	-	NULL	ENST00000317122.1	37	NULL		1																																																																																			RP11-169K16.9	-	-		0.617	RP11-169K16.9-001	KNOWN	basic	antisense	FLJ37453	Clone_based_vega_gene	antisense	OTTHUMT00000025992.1	C			16161772	-1	no_errors	ENST00000317122	ensembl	human	known	70_37	rna	SNP	0.000	T
FLAD1	80308	genome.wustl.edu	37	1	154960571	154960571	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154960571C>G	ENST00000292180.3	+	2	694				FLAD1_ENST00000368431.3_Missense_Mutation_p.F22L|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.F22L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1						FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTTCCCCTTCAACCCCCAGG	0.552																																																	0													160.0	145.0	150.0					1																	154960571		2203	4300	6503	SO:0001627	intron_variant	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.373-10C>G	1.37:g.154960571C>G			Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd	p.F22L	ENST00000292180.3	37	c.66	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418591	0.25552	.	.	ENSG00000160688	ENST00000368431;ENST00000405236	.	.	.	5.39	4.48	0.54585	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26258	-1.0108	7	0.62326	D	0.03	.	11.3442	0.49550	0.0:0.8496:0.0:0.1504	.	22	Q8NFF5-4	.	L	22	.	ENSP00000357416:F22L	F	+	3	2	FLAD1	153227195	.	.	0.003000	0.11579	0.095000	0.18619	.	.	1.297000	0.44761	0.650000	0.86243	TTC	FLAD1	-	smart_Mopterin-bd		0.552	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	C	NM_025207		154960571	+1	no_errors	ENST00000405236	ensembl	human	known	70_37	missense	SNP	0.004	G
LINC00951	401260	genome.wustl.edu	37	6	40312384	40312384	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:40312384C>G	ENST00000373171.2	-	0	252				TDRG1_ENST00000451810.1_RNA|TDRG1_ENST00000448559.1_RNA	NR_038887.1				long intergenic non-protein coding RNA 951																		acctctgcctctctgccactg	0.507																																																	0																																												401260			AK123643, BC132805		6p21.2	2013-07-23			ENSG00000204092	ENSG00000204092		"""Long non-coding RNAs"""	48662	non-coding RNA	RNA, long non-coding						23872665	Standard	NR_038887		Approved	lincRNA-uc003opf.1, FLJ41649			OTTHUMG00000014658		6.37:g.40312384C>G				RNA	SNP	-	NULL	ENST00000373171.2	37	NULL		6																																																																																			RP11-552E20.3	-	-		0.507	LINC00951-001	KNOWN	basic|exp_conf	lincRNA	FLJ41649	Clone_based_vega_gene	lincRNA	OTTHUMT00000040481.1	C			40312384	-1	no_errors	ENST00000373171	ensembl	human	known	70_37	rna	SNP	0.000	G
FNDC5	252995	genome.wustl.edu	37	1	33330060	33330060	+	3'UTR	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:33330060C>A	ENST00000496770.1	-	0	826				FNDC5_ENST00000481487.1_Intron|FNDC5_ENST00000609187.1_Intron|FNDC5_ENST00000373471.3_Intron	NM_001171941.1	NP_001165412.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5						positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTTTTTCTTCAAATCACCAC	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	252995			AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000496770.1:c.*151G>T	1.37:g.33330060C>A			A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	RNA	SNP	-	NULL	ENST00000496770.1	37	NULL		1																																																																																			FNDC5	-	-		0.542	FNDC5-006	PUTATIVE	basic	protein_coding	FNDC5	HGNC	protein_coding	OTTHUMT00000011472.2	C	NM_153756		33330060	-1	no_errors	ENST00000496770	ensembl	human	known	70_37	rna	SNP	0.003	A
FOCAD	54914	genome.wustl.edu	37	9	20862593	20862593	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:20862593C>G	ENST00000380249.1	+	18	2301	c.1937C>G	c.(1936-1938)tCc>tGc	p.S646C	FOCAD_ENST00000605086.1_Missense_Mutation_p.S82C|FOCAD_ENST00000338382.6_Missense_Mutation_p.S646C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	646						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGCATTCGCTCCACTTGGAAT	0.388																																																	0													207.0	174.0	185.0					9																	20862593		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1937C>G	9.37:g.20862593C>G	ENSP00000369599:p.Ser646Cys		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S646C	ENST00000380249.1	37	c.1937	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177092	0.78564	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.27104	1.69;1.69	5.75	5.75	0.90469	Armadillo-type fold (1);Domain of unknown function DUF3730 (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.53788	-0.8389	10	0.87932	D	0	-8.9532	19.9542	0.97213	0.0:1.0:0.0:0.0	.	646	Q5VW36	K1797_HUMAN	C	646	ENSP00000369599:S646C;ENSP00000344307:S646C	ENSP00000344307:S646C	S	+	2	0	KIAA1797	20852593	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	6.075000	0.71261	2.728000	0.93425	0.650000	0.86243	TCC	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.388	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	C	NM_017794		20862593	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	1.000	G
FOXJ1	2302	genome.wustl.edu	37	17	74133686	74133686	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74133686G>A	ENST00000322957.6	-	3	1368	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	338					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGTGTGAGGCGGGGCTCAGAG	0.682																																																	0													21.0	22.0	21.0					17																	74133686		2198	4297	6495	SO:0001819	synonymous_variant	2302			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.1014C>T	17.37:g.74133686G>A			O00630	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P338	ENST00000322957.6	37	c.1014	CCDS32739.1	17																																																																																			FOXJ1	-	NULL		0.682	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	G	NM_001454		74133686	-1	no_errors	ENST00000322957	ensembl	human	known	70_37	silent	SNP	0.015	A
FOXK2	3607	genome.wustl.edu	37	17	80559592	80559592	+	3'UTR	SNP	C	C	G	rs528464541		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80559592C>G	ENST00000335255.5	+	0	2374				FOXK2_ENST00000529652.1_3'UTR|RP13-638C3.4_ENST00000576912.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GACGGTGTCTCCACTGAGCAC	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.*217C>G	17.37:g.80559592C>G			A6NEP5|Q13622|Q13623|Q13624	RNA	SNP	-	NULL	ENST00000335255.5	37	NULL	CCDS11813.1	17																																																																																			FOXK2	-	-		0.547	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	C	NM_181430		80559592	+1	no_errors	ENST00000529652	ensembl	human	known	70_37	rna	SNP	0.013	G
FOXK2	3607	genome.wustl.edu	37	17	80559807	80559807	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80559807C>G	ENST00000335255.5	+	0	2589				FOXK2_ENST00000529652.1_3'UTR|RP13-638C3.4_ENST00000576912.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TTTGAGGTGTCCTTTCTTTAC	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	3607			U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.*432C>G	17.37:g.80559807C>G			A6NEP5|Q13622|Q13623|Q13624	RNA	SNP	-	NULL	ENST00000335255.5	37	NULL	CCDS11813.1	17																																																																																			FOXK2	-	-		0.522	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK2	HGNC	protein_coding	OTTHUMT00000277099.2	C	NM_181430		80559807	+1	no_errors	ENST00000529652	ensembl	human	known	70_37	rna	SNP	0.959	G
FOXO1	2308	genome.wustl.edu	37	13	41134033	41134033	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:41134033G>A	ENST00000379561.5	-	2	1979	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	532	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTAACTGCAGATGTCTGCTG	0.557																																																	0													133.0	122.0	126.0					13																	41134033		2203	4300	6503	SO:0001583	missense	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1595C>T	13.37:g.41134033G>A	ENSP00000368880:p.Ser532Phe		O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S532F	ENST00000379561.5	37	c.1595	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231987	0.22626	.	.	ENSG00000150907	ENST00000379561	D	0.94417	-3.42	5.87	5.87	0.94306	.	0.534882	0.21287	N	0.077045	D	0.93128	0.7812	L	0.54323	1.7	0.22710	N	0.998828	B	0.24368	0.102	B	0.24541	0.054	D	0.84234	0.0468	10	0.39692	T	0.17	-5.7715	19.2063	0.93732	0.0:0.0:1.0:0.0	.	532	Q12778	FOXO1_HUMAN	F	532	ENSP00000368880:S532F	ENSP00000368880:S532F	S	-	2	0	FOXO1	40032033	1.000000	0.71417	0.011000	0.14972	0.398000	0.30690	3.440000	0.52886	2.785000	0.95823	0.655000	0.94253	TCT	FOXO1	-	NULL		0.557	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	G	NM_002015		41134033	-1	no_errors	ENST00000379561	ensembl	human	known	70_37	missense	SNP	0.496	A
FOXP2	93986	genome.wustl.edu	37	7	114302201	114302201	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:114302201G>A	ENST00000393494.2	+	14	2008	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	FOXP2_ENST00000408937.3_Missense_Mutation_p.E602K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E577K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E392K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E485K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E594K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E556K|FOXP2_ENST00000393500.3_3'UTR			O15409	FOXP2_HUMAN	forkhead box P2	577					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACTGTGGATGAAGTAGAATA	0.388																																																	0													142.0	133.0	136.0					7																	114302201		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1729G>A	7.37:g.114302201G>A	ENSP00000377132:p.Glu577Lys		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E602K	ENST00000393494.2	37	c.1804	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261241	0.80246	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	5.65	5.65	0.86999	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.67145	0.979;0.979;0.996;0.979;0.974	D;D;D;D;D	0.74023	0.973;0.982;0.977;0.973;0.969	D	0.98298	1.0517	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	576;594;392;577;602	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	K	577;602;594;577;554;485;392	ENSP00000377132:E577K;ENSP00000386200:E602K;ENSP00000385069:E594K;ENSP00000265436:E577K;ENSP00000377129:E485K;ENSP00000377130:E392K	ENSP00000265436:E577K	E	+	1	0	FOXP2	114089437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GAA	FOXP2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	G	NM_014491		114302201	+1	no_errors	ENST00000408937	ensembl	human	known	70_37	missense	SNP	1.000	A
FRRS1	391059	genome.wustl.edu	37	1	100181193	100181193	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:100181193G>A	ENST00000414213.1	-	12	1873	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	FRRS1_ENST00000287474.5_Silent_p.L424L|FRRS1_ENST00000492943.1_5'UTR			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	424	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAATGCAGGTGAGGACAGTTG	0.383																																																	0													107.0	103.0	104.0					1																	100181193		2203	4300	6503	SO:0001819	synonymous_variant	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1272C>T	1.37:g.100181193G>A			A6NLN7	Silent	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.L424	ENST00000414213.1	37	c.1272		1																																																																																			FRRS1	-	smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM		0.383	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		G	NM_001013660		100181193	-1	no_errors	ENST00000287474	ensembl	human	known	70_37	silent	SNP	1.000	A
FRY	10129	genome.wustl.edu	37	13	32729667	32729667	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32729667G>C	ENST00000380250.3	+	15	2015	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	507						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGTCATAGCTGATAGCTTGCA	0.413																																																	0													84.0	82.0	83.0					13																	32729667		1863	4096	5959	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1519G>C	13.37:g.32729667G>C	ENSP00000369600:p.Asp507His		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D507H	ENST00000380250.3	37	c.1519	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732075	0.89390	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.25414	1.8	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.77820	2.39	0.80722	D	1	P	0.41420	0.749	P	0.48304	0.573	T	0.49351	-0.8949	10	0.87932	D	0	.	18.9901	0.92788	0.0:0.0:1.0:0.0	.	507	Q5TBA9	FRY_HUMAN	H	507;435	ENSP00000369600:D507H	ENSP00000267067:D435H	D	+	1	0	FRY	31627667	1.000000	0.71417	0.597000	0.28824	0.987000	0.75469	9.869000	0.99810	2.557000	0.86248	0.563000	0.77884	GAT	FRY	-	superfamily_ARM-type_fold		0.413	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32729667	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	C
FRY	10129	genome.wustl.edu	37	13	32835906	32835906	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:32835906G>A	ENST00000380250.3	+	52	8066	c.7570G>A	c.(7570-7572)Gag>Aag	p.E2524K	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2524						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGAATCATCCGAGGAGGAGGA	0.498																																																	0													55.0	59.0	58.0					13																	32835906		1981	4174	6155	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7570G>A	13.37:g.32835906G>A	ENSP00000369600:p.Glu2524Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2524K	ENST00000380250.3	37	c.7570	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.954320	0.97139	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.31247	1.5	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.63945	-0.6522	10	0.72032	D	0.01	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	305;2524	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2524;168	ENSP00000369600:E2524K	ENSP00000369567:E168K	E	+	1	0	FRY	31733906	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	9.746000	0.98859	2.702000	0.92279	0.655000	0.94253	GAG	FRY	-	NULL		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32835906	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A
FSTL5	56884	genome.wustl.edu	37	4	162508625	162508625	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:162508625G>C	ENST00000306100.5	-	8	1433	c.997C>G	c.(997-999)Cac>Gac	p.H333D	FSTL5_ENST00000536695.1_Missense_Mutation_p.H332D|FSTL5_ENST00000427802.2_Missense_Mutation_p.H332D|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.H332D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	333	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGAAGATGTGAGTCTGATAG	0.378																																																	0													118.0	109.0	112.0					4																	162508625		2203	4300	6503	SO:0001583	missense	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.997C>G	4.37:g.162508625G>C	ENSP00000305334:p.His333Asp		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.H333D	ENST00000306100.5	37	c.997	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035039	0.75617	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.38	5.38	0.77491	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.995;0.984	T	0.44143	-0.9347	10	0.72032	D	0.01	.	18.1137	0.89543	0.0:0.0:1.0:0.0	.	332;332;333	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	D	333;332;332;332	ENSP00000305334:H333D;ENSP00000368462:H332D;ENSP00000389270:H332D;ENSP00000440409:H332D	ENSP00000305334:H333D	H	-	1	0	FSTL5	162728075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.502000	0.84385	0.655000	0.94253	CAC	FSTL5	-	smart_Ig_sub		0.378	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	G	NM_020116		162508625	-1	no_errors	ENST00000306100	ensembl	human	known	70_37	missense	SNP	1.000	C
GABARAP	11337	genome.wustl.edu	37	17	7144732	7144732	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7144732C>T	ENST00000302386.5	-	3	656	c.217G>A	c.(217-219)Gag>Aag	p.E73K	PHF23_ENST00000320316.3_5'Flank|PHF23_ENST00000576955.1_5'Flank|CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571253.1_5'UTR|PHF23_ENST00000454255.2_5'Flank|PHF23_ENST00000571362.1_5'Flank|GABARAP_ENST00000573928.1_Missense_Mutation_p.E73K	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	73	Interaction with GPHN. {ECO:0000250}.				autophagy (GO:0006914)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|microtubule cytoskeleton organization (GO:0000226)|protein targeting (GO:0006605)|synaptic transmission (GO:0007268)	actin cytoskeleton (GO:0015629)|autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)|cell body (GO:0044297)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)			breast(1)|lung(2)	3						AAGGCATCCTCAGCTCGGAGA	0.468																																																	0													207.0	215.0	212.0					17																	7144732		2203	4300	6503	SO:0001583	missense	11337			AF161586	CCDS11092.1	17p13.1	2014-02-12			ENSG00000170296	ENSG00000170296			4067	protein-coding gene	gene with protein product		605125				9892355	Standard	NM_007278		Approved	MM46, ATG8A	uc002gfb.3	O95166	OTTHUMG00000102156	ENST00000302386.5:c.217G>A	17.37:g.7144732C>T	ENSP00000306866:p.Glu73Lys			Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.E73K	ENST00000302386.5	37	c.217	CCDS11092.1	17	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619751	0.87460	.	.	ENSG00000170296	ENST00000302386	T	0.48201	0.82	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.84156	2.68	0.80722	D	1	P	0.36974	0.576	B	0.38296	0.27	T	0.64162	-0.6472	10	0.62326	D	0.03	-12.9688	15.0989	0.72256	0.0:1.0:0.0:0.0	.	73	O95166	GBRAP_HUMAN	K	73	ENSP00000306866:E73K	ENSP00000306866:E73K	E	-	1	0	GABARAP	7085456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.109000	0.77062	2.145000	0.66743	0.591000	0.81541	GAG	GABARAP	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.468	GABARAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAP	HGNC	protein_coding	OTTHUMT00000220000.2	C			7144732	-1	no_errors	ENST00000302386	ensembl	human	known	70_37	missense	SNP	1.000	T
G6PC	2538	genome.wustl.edu	37	17	41063215	41063215	+	Missense_Mutation	SNP	G	G	C	rs374980545		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:41063215G>C	ENST00000253801.2	+	5	925	c.846G>C	c.(844-846)gaG>gaC	p.E282D	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	282					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTACAGGGAGAGCTGCAAGG	0.572																																																	0													89.0	83.0	85.0					17																	41063215		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.846G>C	17.37:g.41063215G>C	ENSP00000253801:p.Glu282Asp		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.E282D	ENST00000253801.2	37	c.846	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	G	3.383	-0.126010	0.06795	.	.	ENSG00000131482	ENST00000253801	T	0.75821	-0.97	4.94	1.65	0.23941	.	0.226787	0.42964	D	0.000623	T	0.52468	0.1736	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.14656	T	0.56	.	9.0672	0.36471	0.2209:0.1132:0.6659:0.0	.	282	P35575	G6PC_HUMAN	D	282	ENSP00000253801:E282D	ENSP00000253801:E282D	E	+	3	2	G6PC	38316741	1.000000	0.71417	0.935000	0.37517	0.343000	0.28985	1.338000	0.33873	0.288000	0.22398	-1.222000	0.01597	GAG	G6PC	-	pirsf_Glucose-6-phosphatase		0.572	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	HGNC	protein_coding	OTTHUMT00000452451.1	G	NM_000151		41063215	+1	no_errors	ENST00000253801	ensembl	human	known	70_37	missense	SNP	0.982	C
GABRG3	2567	genome.wustl.edu	37	15	27572055	27572055	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:27572055G>C	ENST00000333743.6	+	4	624	c.370G>C	c.(370-372)Ggg>Cgg	p.G124R	GABRG3_ENST00000555083.1_Missense_Mutation_p.G124R	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	124					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACATGGTGGGGTTAATCTG	0.463																																					NSCLC(114;800 1656 7410 37729 45293)												0													139.0	139.0	139.0					15																	27572055		2001	4206	6207	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.370G>C	15.37:g.27572055G>C	ENSP00000331912:p.Gly124Arg		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G124R	ENST00000333743.6	37	c.370	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023730	0.93462	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.78126	-1.15;-1.15;-1.15	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	L	0.43923	1.385	0.80722	D	1	D;D	0.63046	0.992;0.989	D;D	0.68943	0.961;0.92	D	0.84937	0.0863	10	0.62326	D	0.03	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	124;124	Q99928;G3V594	GBRG3_HUMAN;.	R	124;124;66	ENSP00000331912:G124R;ENSP00000452244:G124R;ENSP00000451862:G66R	ENSP00000331912:G124R	G	+	1	0	GABRG3	25154801	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	GGG	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.463	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	G			27572055	+1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	C
GAK	2580	genome.wustl.edu	37	4	907427	907427	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:907427C>G	ENST00000314167.4	-	2	285	c.175G>C	c.(175-177)Gat>Cat	p.D59H	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCCCACATCTTGAGCTTCA	0.373																																																	0													141.0	128.0	132.0					4																	907427		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.175G>C	4.37:g.907427C>G	ENSP00000314499:p.Asp59His		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N	p.D59H	ENST00000314167.4	37	c.175	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724132	0.68959	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000502656	D;D	0.83163	-1.69;-1.69	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88612	0.3157	10	0.87932	D	0	-25.6736	15.0112	0.71552	0.0:1.0:0.0:0.0	.	59	O14976	GAK_HUMAN	H	59	ENSP00000314499:D59H;ENSP00000424701:D59H	ENSP00000314499:D59H	D	-	1	0	GAK	897427	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.623000	0.74238	2.202000	0.70862	0.436000	0.28706	GAT	GAK	-	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		0.373	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	C	NM_005255		907427	-1	no_errors	ENST00000314167	ensembl	human	known	70_37	missense	SNP	1.000	G
GALNT9	50614	genome.wustl.edu	37	12	132834240	132834240	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132834240G>A	ENST00000328957.8	-	5	946	c.947C>T	c.(946-948)tCa>tTa	p.S316L	GALNT9_ENST00000535208.1_5'Flank|GALNT9_ENST00000535228.1_5'UTR	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	316					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	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(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GATGGGTGCTGACTCGTCGCC	0.697																																					Colon(186;2147 2752 13553 41466)												0													22.0	24.0	23.0					12																	132834240		691	1591	2282	SO:0001583	missense	50614			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.947C>T	12.37:g.132834240G>A	ENSP00000329846:p.Ser316Leu		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S316L	ENST00000328957.8	37	c.947		12	.	.	.	.	.	.	.	.	.	.	g	16.30	3.083194	0.55861	.	.	ENSG00000182870	ENST00000328957	T	0.58797	0.31	3.75	3.75	0.43078	.	0.548859	0.18613	N	0.136097	T	0.65165	0.2665	L	0.55743	1.74	0.80722	D	1	P;B;B	0.46578	0.88;0.304;0.108	P;P;B	0.51945	0.685;0.482;0.36	T	0.70726	-0.4793	10	0.87932	D	0	.	15.5717	0.76345	0.0:0.0:1.0:0.0	.	316;316;173	B2RXG6;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	L	316	ENSP00000329846:S316L	ENSP00000329846:S316L	S	-	2	0	GALNT9	131344313	1.000000	0.71417	0.045000	0.18777	0.016000	0.09150	7.591000	0.82666	1.637000	0.50538	0.550000	0.68814	TCA	GALNT9	-	NULL		0.697	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	G	NM_001122636		132834240	-1	no_errors	ENST00000328957	ensembl	human	known	70_37	missense	SNP	0.945	A
GALR2	8811	genome.wustl.edu	37	17	74073113	74073113	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74073113C>T	ENST00000329003.3	+	2	855	c.765C>T	c.(763-765)ctC>ctT	p.L255L	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACCACGCGCTCATCCTCTGCG	0.672																																																	0													38.0	38.0	38.0					17																	74073113		2203	4300	6503	SO:0001819	synonymous_variant	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.765C>T	17.37:g.74073113C>T			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.L255	ENST00000329003.3	37	c.765	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.672	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74073113	+1	no_errors	ENST00000329003	ensembl	human	known	70_37	silent	SNP	0.998	T
GALR2	8811	genome.wustl.edu	37	17	74073178	74073178	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74073178C>G	ENST00000329003.3	+	2	920	c.830C>G	c.(829-831)tCg>tGg	p.S277W	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCATCCTCTCGCACCTGGTC	0.637																																																	0													42.0	37.0	39.0					17																	74073178		2203	4300	6503	SO:0001583	missense	8811			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.830C>G	17.37:g.74073178C>G	ENSP00000329684:p.Ser277Trp		A5JUU4|Q32MN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt	p.S277W	ENST00000329003.3	37	c.830	CCDS11739.1	17	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840929	0.71488	.	.	ENSG00000182687	ENST00000329003	T	0.72835	-0.69	4.62	-0.0722	0.13740	GPCR, rhodopsin-like superfamily (1);	0.176067	0.38326	N	0.001725	D	0.83885	0.5351	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78437	-0.2204	10	0.51188	T	0.08	.	4.6437	0.12561	0.274:0.5178:0.1327:0.0756	.	277	O43603	GALR2_HUMAN	W	277	ENSP00000329684:S277W	ENSP00000329684:S277W	S	+	2	0	GALR2	71584773	0.998000	0.40836	0.796000	0.32109	0.971000	0.66376	3.828000	0.55753	-0.240000	0.09696	0.462000	0.41574	TCG	GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt		0.637	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	C			74073178	+1	no_errors	ENST00000329003	ensembl	human	known	70_37	missense	SNP	1.000	G
GATA2	2624	genome.wustl.edu	37	3	128205845	128205845	+	Missense_Mutation	SNP	C	C	G	rs367785289		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:128205845C>G	ENST00000341105.2	-	2	361	c.30G>C	c.(28-30)tgG>tgC	p.W10C	RP11-475N22.4_ENST00000468377.1_RNA|RP11-475N22.4_ENST00000464242.1_RNA|GATA2_ENST00000487848.1_Missense_Mutation_p.W10C|GATA2_ENST00000430265.2_Missense_Mutation_p.W10C|RP11-475N22.4_ENST00000473958.1_RNA	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	10					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGTGCGCCATCCAGCGCGGCT	0.731			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													24.0	24.0	24.0					3																	128205845		2193	4282	6475	SO:0001583	missense	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.30G>C	3.37:g.128205845C>G	ENSP00000345681:p.Trp10Cys		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.W10C	ENST00000341105.2	37	c.30	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885890	0.72410	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848;ENST00000492608	D;D;D	0.99399	-5.83;-5.76;-5.83	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.87578	0.998;0.746	D	0.98397	1.0566	10	0.87932	D	0	-13.1263	17.68	0.88240	0.0:1.0:0.0:0.0	.	10;10	P23769-2;P23769	.;GATA2_HUMAN	C	10	ENSP00000345681:W10C;ENSP00000400259:W10C;ENSP00000417074:W10C	ENSP00000345681:W10C	W	-	3	0	GATA2	129688535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.444000	0.80532	2.146000	0.66826	0.462000	0.41574	TGG	GATA2	-	pirsf_TF_GATA-1/2/3		0.731	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	C	NM_032638		128205845	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	missense	SNP	1.000	G
GCAT	23464	genome.wustl.edu	37	22	38211201	38211201	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38211201G>T	ENST00000248924.6	+	5	701	c.645G>T	c.(643-645)caG>caT	p.Q215H	GCAT_ENST00000323205.6_Missense_Mutation_p.Q241H	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	215					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CACCCCTGCAGGAGATCTGCT	0.607																																																	0													59.0	51.0	54.0					22																	38211201		2203	4300	6503	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.645G>T	22.37:g.38211201G>T	ENSP00000248924:p.Gln215His		E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.Q215H	ENST00000248924.6	37	c.645	CCDS13957.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.898255|1.898255	0.33535|0.33535	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000394944|ENST00000323205;ENST00000248924	.|D;D	.|0.95205	.|-3.64;-3.64	4.68|4.68	1.29|1.29	0.21616|0.21616	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.477343	.|0.20339	.|N	.|0.094267	.|D	.|0.88040	.|0.6330	L|L	0.28458|0.28458	0.855|0.855	0.37727|0.37727	D|D	0.925129|0.925129	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.10450	.|0.005;0.003	.|T	.|0.80219	.|-0.1473	.|10	0.19590|0.59425	T|D	0.45|0.04	-13.0799|-13.0799	5.396|5.396	0.16268|0.16268	0.253:0.1423:0.6047:0.0|0.253:0.1423:0.6047:0.0	.|.	.|241;215	.|E2QC23;O75600	.|.;KBL_HUMAN	X|H	241|241;215	.|ENSP00000371110:Q241H;ENSP00000248924:Q215H	ENSP00000438043:G241X|ENSP00000248924:Q215H	G|Q	+|+	1|3	0|2	GCAT|GCAT	36541147|36541147	0.982000|0.982000	0.34865|0.34865	0.998000|0.998000	0.56505|0.56505	0.934000|0.934000	0.57294|0.57294	1.240000|1.240000	0.32731|0.32731	0.166000|0.166000	0.19597|0.19597	-0.367000|-0.367000	0.07326|0.07326	GGA|CAG	GCAT	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.607	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38211201	+1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	0.940	T
GCAT	23464	genome.wustl.edu	37	22	38211283	38211283	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38211283G>C	ENST00000248924.6	+	5	783	c.727G>C	c.(727-729)Gga>Cga	p.G243R	GCAT_ENST00000323205.6_Missense_Mutation_p.G269R	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	243					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GGGGCCCACAGGACGGTGGGA	0.627																																																	0													31.0	28.0	29.0					22																	38211283		2202	4300	6502	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.727G>C	22.37:g.38211283G>C	ENSP00000248924:p.Gly243Arg		E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.G243R	ENST00000248924.6	37	c.727	CCDS13957.1	22	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506639	0.85282	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.97941	-4.62;-4.62	4.68	4.68	0.58851	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	H	0.95402	3.665	0.80722	D	1	P;D	0.60575	0.931;0.988	P;D	0.66602	0.905;0.945	D	0.99334	1.0910	10	0.87932	D	0	-2.4557	17.778	0.88515	0.0:0.0:1.0:0.0	.	269;243	E2QC23;O75600	.;KBL_HUMAN	R	269;243	ENSP00000371110:G269R;ENSP00000248924:G243R	ENSP00000248924:G243R	G	+	1	0	GCAT	36541229	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.437000	0.90302	2.440000	0.82611	0.561000	0.74099	GGA	GCAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.627	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38211283	+1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	1.000	C
GCK	2645	genome.wustl.edu	37	7	44190560	44190560	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:44190560C>T	ENST00000403799.3	-	4	947	c.478G>A	c.(478-480)Gat>Aat	p.D160N	GCK_ENST00000345378.2_Missense_Mutation_p.D161N|GCK_ENST00000437084.1_Missense_Mutation_p.D143N|GCK_ENST00000395796.3_Missense_Mutation_p.D159N|GCK_ENST00000476008.1_5'Flank	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	160	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCACCTTATCGATGTCTTCG	0.567																																																	0													110.0	102.0	105.0					7																	44190560		2203	4300	6503	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.478G>A	7.37:g.44190560C>T	ENSP00000384247:p.Asp160Asn		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D161N	ENST00000403799.3	37	c.481	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747204	0.89663	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98178	-4.77;-4.77;-4.77;-4.77	5.22	5.22	0.72569	Hexokinase, conserved site (1);Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	L	0.33339	1.005	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.378;1.0	D;B;D	0.85130	0.997;0.04;0.994	D	0.97355	0.9966	10	0.35671	T	0.21	-59.0364	14.7428	0.69469	0.1452:0.8548:0.0:0.0	.	160;161;159	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	N	160;159;161;143	ENSP00000384247:D160N;ENSP00000379142:D159N;ENSP00000223366:D161N;ENSP00000402840:D143N	ENSP00000223366:D161N	D	-	1	0	GCK	44157085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.042000	0.70996	2.586000	0.87340	0.655000	0.94253	GAT	GCK	-	pfam_Hexokinase_N,prints_Hexokinase		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	C			44190560	-1	no_errors	ENST00000345378	ensembl	human	known	70_37	missense	SNP	1.000	T
GCNT6	644378	genome.wustl.edu	37	6	10634789	10634789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:10634789C>G	ENST00000417671.1	+	1	797	c.797C>G	c.(796-798)tCa>tGa	p.S266*				Q5T4J0	GCNT6_HUMAN	glucosaminyl (N-acetyl) transferase 6	266					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)			breast(1)	1						CACTTTGGCTCAAGTTACGTT	0.418																																																	0																																										SO:0001587	stop_gained	644378					6p24.2	2013-02-25			ENSG00000205318	ENSG00000205318		"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	21623	protein-coding gene	gene with protein product							Standard			Approved	bA421M1.3		Q5T4J0	OTTHUMG00000014243	ENST00000417671.1:c.797C>G	6.37:g.10634789C>G	ENSP00000398277:p.Ser266*			Nonsense_Mutation	SNP	pfam_Glyco_trans_14	p.S266*	ENST00000417671.1	37	c.797		6	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341162	0.41498	.	.	ENSG00000205318	ENST00000417671;ENST00000379591	.	.	.	3.65	1.83	0.25207	.	0.000000	0.44688	U	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	9.7323	0.40368	0.0:0.811:0.0:0.189	.	.	.	.	X	266;211	.	ENSP00000368910:S211X	S	+	2	0	GCNT6	10742775	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.303000	0.19210	0.854000	0.35336	0.591000	0.81541	TCA	GCNT6	-	pfam_Glyco_trans_14		0.418	GCNT6-201	KNOWN	basic|appris_principal	protein_coding	GCNT6	HGNC	protein_coding		C			10634789	+1	no_errors	ENST00000417671	ensembl	human	known	70_37	nonsense	SNP	0.003	G
GEN1	348654	genome.wustl.edu	37	2	17962965	17962965	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:17962965C>T	ENST00000381254.2	+	14	2700	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.S829L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	829					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCATAATTCATCCCATTTC	0.383								Homologous recombination																																									0													67.0	67.0	67.0					2																	17962965		2203	4300	6503	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2486C>T	2.37:g.17962965C>T	ENSP00000370653:p.Ser829Leu		Q17RS9|Q6ZN37	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.S829L	ENST00000381254.2	37	c.2486	CCDS1691.1	2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301275	0.23650	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.22134	1.97;1.97	5.02	2.91	0.33838	.	1.337690	0.05124	N	0.491185	T	0.15869	0.0382	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.49607	T	0.09	0.1837	7.677	0.28492	0.0:0.6119:0.0:0.3881	.	829	Q17RS7	GEN_HUMAN	L	829;829;466	ENSP00000318977:S829L;ENSP00000370653:S829L	ENSP00000318977:S829L	S	+	2	0	GEN1	17826446	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.256000	0.18351	0.446000	0.26666	0.655000	0.94253	TCA	GEN1	-	NULL		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17962965	+1	no_errors	ENST00000317402	ensembl	human	known	70_37	missense	SNP	0.001	T
NDUFS1	4719	genome.wustl.edu	37	2	206980726	206980726	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:206980726C>T	ENST00000233190.6	-	0	10633				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTTTTTCCCATGGGTAATG	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	100329109				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*8183G>A	2.37:g.206980726C>T			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	SNP	-	NULL	ENST00000233190.6	37	NULL	CCDS2366.1	2																																																																																			AC007383.4	-	-		0.333	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSHP3	Clone_based_vega_gene	protein_coding	OTTHUMT00000256391.4	C	NM_005006		206980726	+1	no_errors	ENST00000453039	ensembl	human	known	70_37	rna	SNP	0.009	T
GGNBP2	79893	genome.wustl.edu	37	17	34934549	34934549	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:34934549C>T	ENST00000304718.4	+	7	1094	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACGACACATACATGTTTGCTG	0.448																																																	0													219.0	198.0	205.0					17																	34934549		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.778C>T	17.37:g.34934549C>T	ENSP00000307617:p.His260Tyr		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.H260Y	ENST00000304718.4	37	c.778	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791012	0.90367	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.964	T	0.78788	-0.2067	9	0.87932	D	0	-8.3832	19.7758	0.96391	0.0:1.0:0.0:0.0	.	260;260;260	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	Y	260	.	ENSP00000307617:H260Y	H	+	1	0	GGNBP2	32008662	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.194000	0.77789	2.681000	0.91329	0.585000	0.79938	CAT	GGNBP2	-	NULL		0.448	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	C	NM_024835		34934549	+1	no_errors	ENST00000304718	ensembl	human	known	70_37	missense	SNP	1.000	T
GIGYF1	64599	genome.wustl.edu	37	7	100285844	100285844	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100285844G>C	ENST00000275732.5	-	1	1227	c.18C>G	c.(16-18)ctC>ctG	p.L6L	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	6					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCCCAAAGTTGAGTGTCTCTG	0.607																																																	0													81.0	73.0	76.0					7																	100285844		2203	4300	6503	SO:0001819	synonymous_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.18C>G	7.37:g.100285844G>C			Q6Y7W7|Q8WZ38	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.L6	ENST00000275732.5	37	c.18	CCDS34708.1	7																																																																																			GIGYF1	-	NULL		0.607	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	G	NM_022574		100285844	-1	no_errors	ENST00000275732	ensembl	human	known	70_37	silent	SNP	0.998	C
GLA	2717	genome.wustl.edu	37	X	100652821	100652821	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:100652821C>T	ENST00000218516.3	-	7	1287	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	422					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TTAATGACATCTGCATTGTAT	0.368																																					Colon(193;776 2816 31189 44474)												0													83.0	79.0	80.0					X																	100652821		2203	4300	6503	SO:0001819	synonymous_variant	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.1266G>A	X.37:g.100652821C>T			Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.Q422	ENST00000218516.3	37	c.1266	CCDS14484.1	X																																																																																			GLA	-	NULL		0.368	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100652821	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	silent	SNP	0.000	T
GLIS3	169792	genome.wustl.edu	37	9	3828373	3828373	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:3828373C>T	ENST00000324333.10	-	10	2420	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.G898R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	743					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGAGACTCCCCAAAGAGGCTC	0.542																																																	0													50.0	49.0	49.0					9																	3828373		2203	4300	6503	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2227G>A	9.37:g.3828373C>T	ENSP00000325494:p.Gly743Arg		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G898R	ENST00000324333.10	37	c.2692	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	c	17.33	3.362860	0.61403	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.12569	2.67;2.68	5.92	5.02	0.67125	.	0.000000	0.50627	D	0.000109	T	0.22627	0.0546	L	0.32530	0.975	0.48511	D	0.999661	D;D;P	0.63046	0.973;0.992;0.954	P;P;B	0.59546	0.859;0.847;0.422	T	0.00169	-1.1962	10	0.51188	T	0.08	.	14.1854	0.65603	0.0:0.928:0.0:0.072	.	338;898;743	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	R	743;898	ENSP00000325494:G743R;ENSP00000371398:G898R	ENSP00000325494:G743R	G	-	1	0	GLIS3	3818373	1.000000	0.71417	0.998000	0.56505	0.142000	0.21351	3.991000	0.56973	2.793000	0.96121	0.650000	0.86243	GGG	GLIS3	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	C	NM_152629		3828373	-1	no_errors	ENST00000381971	ensembl	human	known	70_37	missense	SNP	1.000	T
GNPAT	8443	genome.wustl.edu	37	1	231410860	231410860	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:231410860G>A	ENST00000366647.4	+	13	1912				GNPAT_ENST00000366646.3_Intron|GNPAT_ENST00000469332.1_3'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTCTCTTGTGATATATCCTT	0.368																																																	0																																										SO:0001627	intron_variant	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1744-107G>A	1.37:g.231410860G>A			B4DNM9|Q5TBH7|Q9BWC2	RNA	SNP	-	NULL	ENST00000366647.4	37	NULL	CCDS1592.1	1																																																																																			GNPAT	-	-		0.368	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	G			231410860	+1	no_errors	ENST00000469332	ensembl	human	known	70_37	rna	SNP	0.000	A
GPATCH8	23131	genome.wustl.edu	37	17	42475866	42475866	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42475866G>C	ENST00000591680.1	-	8	3609	c.3579C>G	c.(3577-3579)ttC>ttG	p.F1193L	GPATCH8_ENST00000434000.1_Missense_Mutation_p.F1115L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1193							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTCTGAAGGGAACTGATGCC	0.547																																																	0													81.0	93.0	88.0					17																	42475866		2203	4299	6502	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3579C>G	17.37:g.42475866G>C	ENSP00000467556:p.Phe1193Leu		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.F1193L	ENST00000591680.1	37	c.3579	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209849	0.06140	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10763	2.84	4.6	1.5	0.22942	.	0.433746	0.23343	N	0.049218	T	0.04770	0.0129	N	0.14661	0.345	0.35202	D	0.77434	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	10	0.10902	T	0.67	-9.0614	6.2674	0.20934	0.297:0.1251:0.5779:0.0	.	1193	Q9UKJ3	GPTC8_HUMAN	L	1193;1115	ENSP00000395016:F1115L	ENSP00000335486:F1193L	F	-	3	2	GPATCH8	39831392	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	0.765000	0.26546	0.275000	0.22094	0.557000	0.71058	TTC	GPATCH8	-	NULL		0.547	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42475866	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	missense	SNP	0.998	C
GPC2	221914	genome.wustl.edu	37	7	99774886	99774886	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99774886G>A	ENST00000292377.2	-	0	104				STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000426455.1_5'Flank|GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCAAACTCGGGAATCCGGT	0.632																																																	0																																										SO:0001623	5_prime_UTR_variant	221914			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.-64C>T	7.37:g.99774886G>A			A4D2A7	RNA	SNP	-	NULL	ENST00000292377.2	37	NULL	CCDS5689.1	7																																																																																			GPC2	-	-		0.632	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	G	NM_152742		99774886	-1	no_errors	ENST00000480087	ensembl	human	known	70_37	rna	SNP	0.000	A
GPR110	266977	genome.wustl.edu	37	6	46967979	46967979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:46967979G>A	ENST00000371253.2	-	15	2928	c.2713C>T	c.(2713-2715)Cag>Tag	p.Q905*	GPR110_ENST00000283297.5_Nonsense_Mutation_p.Q708*|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAGACAAACTGAGTTAGCATG	0.323																																																	0													94.0	94.0	94.0					6																	46967979		2203	4300	6503	SO:0001587	stop_gained	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2713C>T	6.37:g.46967979G>A	ENSP00000360299:p.Gln905*		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.Q905*	ENST00000371253.2	37	c.2713	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789574	0.50102	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	.	.	.	5.67	2.76	0.32466	.	0.591478	0.15313	N	0.268976	.	.	.	.	.	.	0.40196	D	0.977464	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	0.1103	5.9341	0.19154	0.0807:0.132:0.6517:0.1356	.	.	.	.	X	905;708	.	ENSP00000283297:Q708X	Q	-	1	0	GPR110	47075938	1.000000	0.71417	0.993000	0.49108	0.019000	0.09904	1.302000	0.33459	0.878000	0.35920	-0.797000	0.03246	CAG	GPR110	-	NULL		0.323	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	G	NM_153840		46967979	-1	no_errors	ENST00000371253	ensembl	human	known	70_37	nonsense	SNP	0.974	A
GPR112	139378	genome.wustl.edu	37	X	135391004	135391004	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:135391004C>T	ENST00000394143.1	+	4	359	c.68C>T	c.(67-69)tCa>tTa	p.S23L	GPR112_ENST00000370652.1_Missense_Mutation_p.S23L|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000394141.1_Missense_Mutation_p.S23L|GPR112_ENST00000412101.1_Missense_Mutation_p.S23L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	23					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCTTTCTCTCAGGTAAGAAA	0.294																																																	0													172.0	153.0	159.0					X																	135391004		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.68C>T	X.37:g.135391004C>T	ENSP00000377699:p.Ser23Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S23L	ENST00000394143.1	37	c.68	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738973	0.49045	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.38560	1.53;1.53;1.13;1.13	5.58	5.58	0.84498	.	.	.	.	.	T	0.37999	0.1024	N	0.14661	0.345	0.80722	D	1	D;P	0.55605	0.972;0.953	P;P	0.51453	0.67;0.469	T	0.36163	-0.9759	9	0.72032	D	0.01	.	14.0778	0.64900	0.0:1.0:0.0:0.0	.	23;23	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	23	ENSP00000377699:S23L;ENSP00000359686:S23L;ENSP00000416526:S23L;ENSP00000377697:S23L	ENSP00000359686:S23L	S	+	2	0	GPR112	135218670	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.439000	0.52878	2.486000	0.83907	0.544000	0.68410	TCA	GPR112	-	NULL		0.294	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135391004	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR152	390212	genome.wustl.edu	37	11	67219821	67219821	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:67219821G>C	ENST00000312457.2	-	1	379	c.375C>G	c.(373-375)ctC>ctG	p.L125L	CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGTCGAGGCTGAGGGCGGCCA	0.701																																					Pancreas(102;800 1581 2723 7382 33622)												0													20.0	23.0	22.0					11																	67219821		2198	4295	6493	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.375C>G	11.37:g.67219821G>C			Q0VD88|Q86SM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L125	ENST00000312457.2	37	c.375	CCDS8165.1	11																																																																																			GPR152	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.701	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	G			67219821	-1	no_errors	ENST00000312457	ensembl	human	known	70_37	silent	SNP	1.000	C
GPR18	2841	genome.wustl.edu	37	13	99907834	99907834	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:99907834C>G	ENST00000340807.3	-	3	849	c.293G>C	c.(292-294)gGa>gCa	p.G98A	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.G98A|GPR18_ENST00000397470.2_Missense_Mutation_p.G98A|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	98					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTGAGAGCTCCAAGAATCTG	0.398																																																	0													77.0	74.0	75.0					13																	99907834		2203	4300	6503	SO:0001583	missense	2841			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.293G>C	13.37:g.99907834C>G	ENSP00000343428:p.Gly98Ala		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.G98A	ENST00000340807.3	37	c.293	CCDS9491.1	13	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990424	0.54041	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.58060	1.14;1.14;1.14;0.36	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.056728	0.64402	D	0.000001	T	0.38639	0.1048	N	0.12422	0.21	0.52099	D	0.999946	B	0.26318	0.146	B	0.26864	0.074	T	0.18335	-1.0340	9	.	.	.	-7.7033	20.6593	0.99626	0.0:1.0:0.0:0.0	.	98	Q14330	GPR18_HUMAN	A	98	ENSP00000380613:G98A;ENSP00000380610:G98A;ENSP00000343428:G98A;ENSP00000401611:G98A	.	G	-	2	0	GPR18	98705835	0.981000	0.34729	1.000000	0.80357	0.973000	0.67179	3.892000	0.56235	2.885000	0.99019	0.655000	0.94253	GGA	GPR18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR18	HGNC	protein_coding	OTTHUMT00000045585.1	C			99907834	-1	no_errors	ENST00000340807	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	89981736	89981736	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:89981736C>G	ENST00000405460.2	+	29	6510	c.6414C>G	c.(6412-6414)atC>atG	p.I2138M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2138	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCCATTATCAATGTGACTA	0.408																																																	0													91.0	81.0	84.0					5																	89981736		1920	4133	6053	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6414C>G	5.37:g.89981736C>G	ENSP00000384582:p.Ile2138Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I2138M	ENST00000405460.2	37	c.6414	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367865	0.61513	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30182	1.54	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.087963	0.85682	D	0.000000	T	0.50735	0.1633	M	0.72576	2.205	0.80722	D	1	P	0.50272	0.933	D	0.63793	0.918	T	0.51537	-0.8693	10	0.72032	D	0.01	.	10.1382	0.42719	0.0:0.8476:0.0:0.1524	.	2138	Q8WXG9	GPR98_HUMAN	M	2138	ENSP00000384582:I2138M	ENSP00000296619:I2138M	I	+	3	3	GPR98	90017492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.579000	0.36536	2.736000	0.93811	0.591000	0.81541	ATC	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89981736	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G
GPRIN1	114787	genome.wustl.edu	37	5	176026585	176026585	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:176026585G>C	ENST00000303991.4	-	2	428	c.251C>G	c.(250-252)tCt>tGt	p.S84C		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	84					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCGTCAGAGCAGGAGGC	0.657																																																	0													32.0	37.0	36.0					5																	176026585		2203	4300	6503	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.251C>G	5.37:g.176026585G>C	ENSP00000305839:p.Ser84Cys		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.S84C	ENST00000303991.4	37	c.251	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280406	0.40294	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.16196	2.36	4.78	4.78	0.61160	.	0.410465	0.18160	N	0.149810	T	0.39809	0.1092	M	0.65975	2.015	0.29408	N	0.861471	D	0.89917	1.0	D	0.69479	0.964	T	0.21552	-1.0242	10	0.66056	D	0.02	-0.0375	15.3595	0.74460	0.0:0.0:1.0:0.0	.	84	Q7Z2K8	GRIN1_HUMAN	C	84	ENSP00000305839:S84C	ENSP00000305839:S84C	S	-	2	0	GPRIN1	175959191	0.995000	0.38212	0.863000	0.33907	0.095000	0.18619	2.405000	0.44548	2.475000	0.83589	0.563000	0.77884	TCT	GPRIN1	-	NULL		0.657	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	G	NM_052899		176026585	-1	no_errors	ENST00000303991	ensembl	human	known	70_37	missense	SNP	0.822	C
GREB1	9687	genome.wustl.edu	37	2	11718523	11718523	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:11718523G>A	ENST00000381486.2	+	6	1038	c.738G>A	c.(736-738)acG>acA	p.T246T	GREB1_ENST00000381483.2_Silent_p.T246T|GREB1_ENST00000234142.5_Silent_p.T246T|GREB1_ENST00000263834.5_Silent_p.T246T|GREB1_ENST00000389825.3_Silent_p.T136T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	246						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCTGGGACGAACCCCAGCA	0.617																																					Ovarian(39;850 945 2785 23371 33093)												0													64.0	62.0	63.0					2																	11718523		2203	4300	6503	SO:0001819	synonymous_variant	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.738G>A	2.37:g.11718523G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.T246	ENST00000381486.2	37	c.738	CCDS42655.1	2																																																																																			GREB1	-	NULL		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	G	NM_014668		11718523	+1	no_errors	ENST00000234142	ensembl	human	known	70_37	silent	SNP	0.000	A
GRHL3	57822	genome.wustl.edu	37	1	24666196	24666196	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:24666196G>C	ENST00000350501.5	+	8	1118	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	GRHL3_ENST00000236255.4_Missense_Mutation_p.E336Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.E285Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E238Q|GRHL3_ENST00000361548.4_Missense_Mutation_p.E331Q	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	331					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GGAGCACATTGAGGAGGTGGC	0.537																																																	0													273.0	252.0	259.0					1																	24666196		2203	4300	6503	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.991G>C	1.37:g.24666196G>C	ENSP00000288955:p.Glu331Gln		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E331Q	ENST00000350501.5	37	c.991	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.205455	0.95033	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.62134	-0.6918	10	0.66056	D	0.02	-44.3412	18.8848	0.92372	0.0:0.0:1.0:0.0	.	285;336;331	A2A297;Q8TE85-2;G3XAF0	.;.;.	Q	331;238;331;285;336	ENSP00000354943:E331Q;ENSP00000340543:E238Q;ENSP00000288955:E331Q;ENSP00000348333:E285Q;ENSP00000236255:E336Q	ENSP00000236255:E336Q	E	+	1	0	GRHL3	24538783	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.995000	0.88328	2.700000	0.92200	0.655000	0.94253	GAG	GRHL3	-	pfam_CP2		0.537	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	G	NM_021180		24666196	+1	no_errors	ENST00000350501	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIA1	2890	genome.wustl.edu	37	5	153078478	153078478	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:153078478G>A	ENST00000285900.5	+	10	1640	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	GRIA1_ENST00000448073.4_Missense_Mutation_p.D443N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D433N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D364N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D443N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D353N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	433					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAGGGCAATGACCGTTACGA	0.507																																																	0													136.0	118.0	124.0					5																	153078478		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1297G>A	5.37:g.153078478G>A	ENSP00000285900:p.Asp433Asn		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D443N	ENST00000285900.5	37	c.1327	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329846	0.81690	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38560	1.74;1.74;1.13;1.74;1.74;1.74;1.13	5.4	5.4	0.78164	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.092201	0.64402	D	0.000001	T	0.47764	0.1463	M	0.63169	1.94	0.80722	D	1	B;B;B;B;B;B	0.15930	0.002;0.002;0.015;0.002;0.0;0.007	B;B;B;B;B;B	0.27262	0.01;0.01;0.078;0.01;0.004;0.061	T	0.47623	-0.9103	10	0.87932	D	0	.	18.2198	0.89898	0.0:0.0:1.0:0.0	.	443;443;353;443;433;433	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	433;433;353;387;433;364;364;443;443	ENSP00000285900:D433N;ENSP00000427920:D353N;ENSP00000339343:D433N;ENSP00000427864:D364N;ENSP00000442108:D364N;ENSP00000428994:D443N;ENSP00000415569:D443N	ENSP00000285900:D433N	D	+	1	0	GRIA1	153058671	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.694000	0.84235	2.543000	0.85770	0.650000	0.86243	GAC	GRIA1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	G			153078478	+1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIN3A	116443	genome.wustl.edu	37	9	104448997	104448997	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:104448997C>T	ENST00000361820.3	-	2	1785	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	395					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCTTGCGACCAGCTCCATAG	0.498																																																	0													125.0	94.0	105.0					9																	104448997		2203	4300	6503	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1185G>A	9.37:g.104448997C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.L395	ENST00000361820.3	37	c.1185	CCDS6758.1	9																																																																																			GRIN3A	-	NULL		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	C			104448997	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIPAP1	56850	genome.wustl.edu	37	X	48830616	48830616	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48830616C>T	ENST00000376441.1	-	26	2549	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	GRIPAP1_ENST00000473581.1_5'Flank|KCND1_ENST00000218176.3_5'Flank|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E808K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E794K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	839						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TAGCTGGTTTCTCCTGGCTCT	0.557																																																	0													64.0	50.0	55.0					X																	48830616		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2515G>A	X.37:g.48830616C>T	ENSP00000365624:p.Glu839Lys		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E839K	ENST00000376441.1	37	c.2515	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	c	19.78	3.891840	0.72524	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	3.93	3.05	0.35203	.	0.232964	0.21932	U	0.067006	T	0.41282	0.1152	N	0.22421	0.69	0.80722	D	1	B	0.28291	0.206	B	0.28139	0.086	T	0.34153	-0.9840	9	0.87932	D	0	-4.6924	8.5347	0.33355	0.0:0.7681:0.2319:0.0	.	839	Q4V328	GRAP1_HUMAN	K	808;794;839;808	.	ENSP00000365608:E808K	E	-	1	0	GRIPAP1	48715560	1.000000	0.71417	0.958000	0.39756	0.958000	0.62258	1.582000	0.36568	0.681000	0.31386	-0.295000	0.09555	GAA	GRIPAP1	-	NULL		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	C	NM_207672		48830616	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	0.999	T
GRM7	2917	genome.wustl.edu	37	3	6903211	6903211	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:6903211G>A	ENST00000357716.4	+	1	410	c.136G>A	c.(136-138)Gag>Aag	p.E46K	GRM7_ENST00000403881.1_Missense_Mutation_p.E46K|GRM7_ENST00000486284.1_Missense_Mutation_p.E46K|GRM7_ENST00000402647.2_Missense_Mutation_p.E46K|GRM7_ENST00000389336.4_Missense_Mutation_p.E46K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AATCCGGATCGAGGGGGACGT	0.682																																																	0													12.0	13.0	13.0					3																	6903211		2199	4297	6496	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.136G>A	3.37:g.6903211G>A	ENSP00000350348:p.Glu46Lys		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E46K	ENST00000357716.4	37	c.136	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060067	0.76074	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	T	0.66287	0.2774	L	0.38733	1.17	0.51012	D	0.999904	P;P;B	0.50710	0.938;0.897;0.194	B;B;B	0.33454	0.164;0.079;0.091	T	0.70718	-0.4795	10	0.40728	T	0.16	.	17.7009	0.88294	0.0:0.0:1.0:0.0	.	46;46;46	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	K	46	ENSP00000350348:E46K;ENSP00000417536:E46K;ENSP00000373987:E46K;ENSP00000385664:E46K;ENSP00000384585:E46K	ENSP00000350348:E46K	E	+	1	0	GRM7	6878211	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.728000	0.98792	2.503000	0.84419	0.557000	0.71058	GAG	GRM7	-	prints_GPCR_3		0.682	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	G	NM_000844		6903211	+1	no_errors	ENST00000402647	ensembl	human	known	70_37	missense	SNP	1.000	A
GTF2H3	2967	genome.wustl.edu	37	12	124144781	124144781	+	Nonstop_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:124144781G>C	ENST00000543341.2	+	13	957	c.926G>C	c.(925-927)tGa>tCa	p.*309S	GTF2H3_ENST00000228955.7_Nonstop_Mutation_p.*268S	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	0					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GTGTCTGCCTGAGGATAAAAT	0.328								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0													53.0	58.0	56.0					12																	124144781		2203	4300	6503	SO:0001578	stop_lost	2967			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.926G>C	12.37:g.124144781G>C	ENSP00000445162:p.*309Serext*2		B2R819|B4DNZ6|Q7L0G0|Q96AT7	Nonstop_Mutation	SNP	pfam_TF_Tfb4,tigrfam_TF_Tfb4	p.*309S	ENST00000543341.2	37	c.926	CCDS9252.1	12	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192660	0.58017	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000542231	.	.	.	4.96	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5716	0.07920	0.2972:0.0:0.7028:0.0	.	.	.	.	S	268;309;259	.	.	X	+	2	2	GTF2H3	122710734	0.793000	0.28825	0.722000	0.30670	0.406000	0.30931	0.841000	0.27613	2.337000	0.79520	0.650000	0.86243	TGA	GTF2H3	-	NULL		0.328	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	G	NM_001516		124144781	+1	no_errors	ENST00000543341	ensembl	human	known	70_37	nonstop	SNP	0.444	C
GTF3C2	2976	genome.wustl.edu	37	2	27566306	27566306	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:27566306G>C	ENST00000359541.2	-	2	545	c.116C>G	c.(115-117)tCt>tGt	p.S39C	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S39C|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	39					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTCTGAAGAGGTCTTGAC	0.547																																																	0													152.0	150.0	150.0					2																	27566306		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.116C>G	2.37:g.27566306G>C	ENSP00000352536:p.Ser39Cys		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S39C	ENST00000359541.2	37	c.116	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914562	0.17907	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.75050	-0.9;-0.9	5.04	4.14	0.48551	.	1.247040	0.05487	N	0.555870	T	0.64193	0.2576	N	0.19112	0.55	0.20764	N	0.99985	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.52019	-0.8631	10	0.44086	T	0.13	-2.5675	11.1639	0.48531	0.0:0.1858:0.8142:0.0	.	39;39;39	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	C	39	ENSP00000352536:S39C;ENSP00000264720:S39C	ENSP00000264720:S39C	S	-	2	0	GTF3C2	27419810	0.997000	0.39634	0.792000	0.32020	0.462000	0.32619	2.675000	0.46875	1.306000	0.44926	0.563000	0.77884	TCT	GTF3C2	-	NULL		0.547	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	G			27566306	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	missense	SNP	0.603	C
GZMK	3003	genome.wustl.edu	37	5	54329656	54329656	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:54329656G>C	ENST00000231009.2	+	5	767	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGGAGGTCATGAATGTGGTGT	0.468																																																	0													113.0	103.0	106.0					5																	54329656		2203	4300	6503	SO:0001583	missense	3003			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.697G>C	5.37:g.54329656G>C	ENSP00000231009:p.Glu233Gln		B2R563	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E233Q	ENST00000231009.2	37	c.697	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702939	0.30232	.	.	ENSG00000113088	ENST00000231009	D	0.88586	-2.4	5.28	-3.86	0.04230	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.635725	0.15408	N	0.263953	T	0.72732	0.3497	N	0.21324	0.655	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.57665	-0.7772	10	0.25106	T	0.35	.	1.4701	0.02414	0.385:0.2409:0.257:0.1171	.	233	P49863	GRAK_HUMAN	Q	233	ENSP00000231009:E233Q	ENSP00000231009:E233Q	E	+	1	0	GZMK	54365413	0.000000	0.05858	0.012000	0.15200	0.088000	0.18126	-0.162000	0.10012	-0.547000	0.06207	-1.242000	0.01536	GAA	GZMK	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.468	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1	G	NM_002104		54329656	+1	no_errors	ENST00000231009	ensembl	human	known	70_37	missense	SNP	0.000	C
H1FX	8971	genome.wustl.edu	37	3	129034730	129034730	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:129034730C>G	ENST00000333762.4	-	1	390	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	6					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						AGGGCCTCCTCGAGCTCCACG	0.682																																																	0													9.0	9.0	9.0					3																	129034730		2198	4293	6491	SO:0001583	missense	8971			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.16G>C	3.37:g.129034730C>G	ENSP00000329662:p.Glu6Gln			Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E6Q	ENST00000333762.4	37	c.16	CCDS3057.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461230	0.43736	.	.	ENSG00000184897	ENST00000333762	T	0.07567	3.18	3.42	3.42	0.39159	.	0.179052	0.33496	U	0.004857	T	0.04815	0.0130	N	0.14661	0.345	0.26034	N	0.981702	P	0.39404	0.672	B	0.34038	0.174	T	0.31586	-0.9938	10	0.59425	D	0.04	-38.7515	10.3331	0.43833	0.0:1.0:0.0:0.0	.	6	Q92522	H1X_HUMAN	Q	6	ENSP00000329662:E6Q	ENSP00000329662:E6Q	E	-	1	0	H1FX	130517420	0.946000	0.32159	0.775000	0.31657	0.115000	0.19883	2.598000	0.46223	1.451000	0.47736	0.561000	0.74099	GAG	H1FX	-	NULL		0.682	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FX	HGNC	protein_coding	OTTHUMT00000355455.2	C	NM_006026		129034730	-1	no_errors	ENST00000333762	ensembl	human	known	70_37	missense	SNP	0.536	G
HAND1	9421	genome.wustl.edu	37	5	153857329	153857329	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:153857329C>T	ENST00000231121.2	-	1	495	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	80					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|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)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCCGGGGCTCTGCCCAGGCC	0.731																																																	0													11.0	12.0	12.0					5																	153857329		2185	4279	6464	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.240G>A	5.37:g.153857329C>T				Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.Q80	ENST00000231121.2	37	c.240	CCDS4327.1	5																																																																																			HAND1	-	NULL		0.731	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	C	NM_004821		153857329	-1	no_errors	ENST00000231121	ensembl	human	known	70_37	silent	SNP	1.000	T
HCG11	493812	genome.wustl.edu	37	6	26522340	26522340	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26522340G>A	ENST00000411553.1	+	0	265				RNU6-502P_ENST00000362419.1_RNA	NR_026790.1				HLA complex group 11 (non-protein coding)																		GCCGCGCGGCGGAGGGCGTTA	0.746																																																	0																																												493812			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.26522340G>A				RNA	SNP	-	NULL	ENST00000411553.1	37	NULL		6																																																																																			HCG11	-	-		0.746	HCG11-001	KNOWN	basic	lincRNA	HCG11	HGNC	lincRNA	OTTHUMT00000040121.1	G			26522340	+1	no_errors	ENST00000411553	ensembl	human	known	70_37	rna	SNP	0.003	A
HCN1	348980	genome.wustl.edu	37	5	45303719	45303719	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:45303719C>T	ENST00000303230.4	-	6	1657	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	534					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAGAGCCATCTGTCAGCTTC	0.353																																																	0													81.0	78.0	79.0					5																	45303719		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1600G>A	5.37:g.45303719C>T	ENSP00000307342:p.Asp534Asn			Missense_Mutation	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.D534N	ENST00000303230.4	37	c.1600	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.416936	0.96092	.	.	ENSG00000164588	ENST00000303230	D	0.92595	-3.07	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.95401	0.8507	M	0.70842	2.15	0.80722	D	1	D	0.61697	0.99	P	0.61070	0.883	D	0.95339	0.8436	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	534	O60741	HCN1_HUMAN	N	534	ENSP00000307342:D534N	ENSP00000307342:D534N	D	-	1	0	HCN1	45339476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	GAT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.353	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45303719	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	T
HDX	139324	genome.wustl.edu	37	X	83588783	83588783	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:83588783G>C	ENST00000297977.5	-	8	1919	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	HDX_ENST00000373177.2_Missense_Mutation_p.S603C|HDX_ENST00000506585.2_Missense_Mutation_p.S545C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	603						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S603Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATCCAAGAAAGAGTTTACTTG	0.249																																					Pancreas(53;231 1169 36156 43751 51139)												1	Substitution - Missense(1)	large_intestine(1)											56.0	53.0	54.0					X																	83588783		2189	4271	6460	SO:0001583	missense	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1808C>G	X.37:g.83588783G>C	ENSP00000297977:p.Ser603Cys		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S603C	ENST00000297977.5	37	c.1808	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513296	0.27123	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35236	1.34;1.32;1.34	4.79	3.91	0.45181	.	0.201368	0.44688	D	0.000437	T	0.39886	0.1095	L	0.32530	0.975	0.39274	D	0.964449	D	0.63046	0.992	P	0.54401	0.751	T	0.40059	-0.9583	10	0.87932	D	0	-11.7148	11.9644	0.53027	0.0:0.0:0.8262:0.1738	.	603	Q7Z353	HDX_HUMAN	C	603;545;603	ENSP00000297977:S603C;ENSP00000362272:S545C;ENSP00000423670:S603C	ENSP00000297977:S603C	S	-	2	0	HDX	83475439	1.000000	0.71417	0.897000	0.35233	0.140000	0.21249	5.655000	0.67981	0.922000	0.37019	0.523000	0.50628	TCT	HDX	-	NULL		0.249	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	G	NM_144657		83588783	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	missense	SNP	0.998	C
HEATR1	55127	genome.wustl.edu	37	1	236750721	236750722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:236750721_236750722insT	ENST00000366582.3	-	14	1809_1810	c.1695_1696insA	c.(1693-1698)gaacttfs	p.L566fs	HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.L566fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	566					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCTTTGAAAGTTCTGCTCTTT	0.297																																																	0																																										SO:0001589	frameshift_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1696dupA	1.37:g.236750723_236750723dupT	ENSP00000355541:p.Leu566fs		Q5T3Q8|Q6P197|Q9NW23	Frame_Shift_Ins	INS	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L565fs	ENST00000366582.3	37	c.1696_1695	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold		0.297	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	XM_375853		236750722	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.993	T
HEATR1	55127	genome.wustl.edu	37	1	236750724	236750724	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:236750724C>T	ENST00000366582.3	-	14	1807	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E565K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	565					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTGAAAGTTCTGCTCTTTGA	0.299																																																	0													46.0	44.0	45.0					1																	236750724		2199	4292	6491	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1693G>A	1.37:g.236750724C>T	ENSP00000355541:p.Glu565Lys		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E565K	ENST00000366582.3	37	c.1693	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979702	0.74360	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.68331	0.61;-0.32	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.332477	0.35291	N	0.003308	T	0.63965	0.2556	L	0.50919	1.6	0.80722	D	1	B	0.17038	0.02	B	0.20767	0.031	T	0.58047	-0.7705	10	0.33940	T	0.23	.	18.3473	0.90326	0.0:1.0:0.0:0.0	.	565	Q9H583	HEAT1_HUMAN	K	565	ENSP00000355541:E565K;ENSP00000355540:E565K	ENSP00000355540:E565K	E	-	1	0	HEATR1	234817347	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.085000	0.57657	2.632000	0.89209	0.655000	0.94253	GAA	HEATR1	-	superfamily_ARM-type_fold		0.299	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236750724	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31863394	31863394	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:31863394C>G	ENST00000389961.3	-	5	617	c.618G>C	c.(616-618)tgG>tgC	p.W206C	HEATR5A_ENST00000404677.3_Missense_Mutation_p.W212C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.W206C|HEATR5A_ENST00000543095.2_Missense_Mutation_p.W212C			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	206										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGTCCGTACTCCACATAAAGA	0.368																																																	0																																										SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.618G>C	14.37:g.31863394C>G	ENSP00000374611:p.Trp206Cys		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.W206C	ENST00000389961.3	37	c.618		14	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214340	0.79352	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677	T;T;T;T	0.64438	3.16;3.16;-0.1;-0.1	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82273	-0.0539	10	0.87932	D	0	.	18.2422	0.89971	0.0:1.0:0.0:0.0	.	212	B5MC49	.	C	206;206;212;212	ENSP00000374611:W206C;ENSP00000405407:W206C;ENSP00000437968:W212C;ENSP00000384646:W212C	ENSP00000374611:W206C	W	-	3	0	HEATR5A	30933145	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.841000	0.69409	2.548000	0.85928	0.655000	0.94253	TGG	HEATR5A	-	superfamily_ARM-type_fold		0.368	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		C	NM_015473		31863394	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	G
MROH2A	339766	genome.wustl.edu	37	2	234702468	234702468	+	Missense_Mutation	SNP	G	G	A	rs568668362		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:234702468G>A	ENST00000389758.3	+	7	986	c.820G>A	c.(820-822)Gag>Aag	p.E274K				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	304																	CTACAACCCCGAGGTGAGATG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.820G>A	2.37:g.234702468G>A	ENSP00000374408:p.Glu274Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E274K	ENST00000389758.3	37	c.820		2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786964	0.31593	.	.	ENSG00000185038	ENST00000389758	T	0.10099	2.91	5.56	4.68	0.58851	.	0.171070	0.28067	N	0.016733	T	0.14787	0.0357	L	0.48642	1.525	0.29758	N	0.835777	.	.	.	.	.	.	T	0.03463	-1.1034	7	.	.	.	.	10.5738	0.45214	0.0897:0.0:0.9103:0.0	.	.	.	.	K	274	ENSP00000374408:E274K	.	E	+	1	0	HEATR7B1	234367207	0.998000	0.40836	0.888000	0.34837	0.070000	0.16714	4.261000	0.58841	1.466000	0.48025	0.655000	0.94253	GAG	HEATR7B1	-	superfamily_ARM-type_fold		0.632	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	G	XM_291007		234702468	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	missense	SNP	0.949	A
MROH2A	339766	genome.wustl.edu	37	2	234704681	234704681	+	Silent	SNP	C	C	T	rs199727503	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:234704681C>T	ENST00000389758.3	+	10	1294	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	406																	TGCACTGCTTCGTAGCCCTTG	0.667													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15629	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.1128C>T	2.37:g.234704681C>T				Silent	SNP	superfamily_ARM-type_fold	p.F376	ENST00000389758.3	37	c.1128		2																																																																																			HEATR7B1	-	superfamily_ARM-type_fold		0.667	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	C	XM_291007		234704681	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	silent	SNP	0.985	T
HECTD4	283450	genome.wustl.edu	37	12	112602065	112602065	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:112602065G>A	ENST00000430131.2	-	72	12428	c.11283C>T	c.(11281-11283)acC>acT	p.T3761T	HECTD4_ENST00000550722.1_Silent_p.T4037T|HECTD4_ENST00000377560.5_Silent_p.T4011T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3761	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCTCCAGCTCGGTCTCATCAT	0.627																																																	0													59.0	67.0	64.0					12																	112602065		2118	4215	6333	SO:0001819	synonymous_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11283C>T	12.37:g.112602065G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.T4011	ENST00000430131.2	37	c.12033		12																																																																																			HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.627	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		G	NM_173813		112602065	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	silent	SNP	0.000	A
HEG1	57493	genome.wustl.edu	37	3	124748248	124748248	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:124748248G>A	ENST00000311127.4	-	2	468	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	134					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGACACTGTTGAAAAGTCCTC	0.483																																																	0													111.0	104.0	106.0					3																	124748248		1903	4132	6035	SO:0001583	missense	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.401C>T	3.37:g.124748248G>A	ENSP00000311502:p.Ser134Leu		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.S134L	ENST00000311127.4	37	c.401	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	9.334	1.061171	0.19987	.	.	ENSG00000173706	ENST00000311127	T	0.54866	0.55	5.52	3.68	0.42216	.	.	.	.	.	T	0.50480	0.1618	N	0.20986	0.625	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.57720	0.826;0.593	T	0.33420	-0.9869	9	0.59425	D	0.04	.	7.0615	0.25129	0.0864:0.0:0.7446:0.169	.	134;134	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	134	ENSP00000311502:S134L	ENSP00000311502:S134L	S	-	2	0	HEG1	126230938	0.653000	0.27358	0.002000	0.10522	0.054000	0.15201	1.910000	0.39927	0.835000	0.34877	0.563000	0.77884	TCA	HEG1	-	NULL		0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	G	XM_087386		124748248	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	missense	SNP	0.003	A
HELQ	113510	genome.wustl.edu	37	4	84376882	84376882	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:84376882C>T	ENST00000295488.3	-	0	127				MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_5'UTR|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000295491.4_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like						double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACGTCGTTCTCAGTGACCCAG	0.587								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31.0	40.0	37.0					4																	84376882		2199	4299	6498	SO:0001623	5_prime_UTR_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.-36G>A	4.37:g.84376882C>T		1228	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	RNA	SNP	-	NULL	ENST00000295488.3	37	NULL	CCDS3603.1	4																																																																																			HELQ	-	-		0.587	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84376882	-1	no_errors	ENST00000440639	ensembl	human	putative	70_37	rna	SNP	0.000	T
HELZ2	85441	genome.wustl.edu	37	20	62197125	62197125	+	Missense_Mutation	SNP	G	G	A	rs145321285		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62197125G>A	ENST00000467148.1	-	8	3119	c.3050C>T	c.(3049-3051)gCg>gTg	p.A1017V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A448V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1017	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCGTCTGCGCTGTGGTTGC	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0																0								G	VAL/ALA,VAL/ALA	2,4386		0,2,2192	31.0	25.0	27.0		3050,1343	-6.0	0.0	20	dbSNP_134	27	0,8588		0,0,4294	yes	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	64,64	0,2,6486	AA,AG,GG		0.0,0.0456,0.0154	possibly-damaging,possibly-damaging	1017/2650,448/2081	62197125	2,12974	2194	4294	6488	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3050C>T	20.37:g.62197125G>A	ENSP00000417401:p.Ala1017Val		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A1017V	ENST00000467148.1	37	c.3050	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	7.338	0.620312	0.14193	4.56E-4	0.0	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79940	-1.32;-1.21	2.99	-5.97	0.02227	.	2.166060	0.02568	N	0.097449	T	0.56277	0.1974	N	0.04959	-0.14	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.10450	0.001;0.005	T	0.47898	-0.9081	10	0.28530	T	0.3	0.7303	2.3031	0.04167	0.2887:0.0967:0.4357:0.1789	.	1017;448	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	448;1017	ENSP00000393257:A448V;ENSP00000417401:A1017V	ENSP00000393257:A448V	A	-	2	0	RP4-697K14.7	61667569	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.112000	0.03299	-2.070000	0.00881	-0.657000	0.03884	GCG	HELZ2	-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62197125	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.000	A
HELZ2	85441	genome.wustl.edu	37	20	62199862	62199862	+	Missense_Mutation	SNP	C	C	T	rs143335677		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62199862C>T	ENST00000467148.1	-	5	1648	c.1579G>A	c.(1579-1581)Gcg>Acg	p.A527T	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	527					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCCCAGCCCGCGATGAGCGCC	0.697																																																	0								C	THR/ALA	3,4347		0,3,2172	22.0	21.0	21.0		1579	0.8	0.0	20	dbSNP_134	21	0,8556		0,0,4278	no	missense	PRIC285	NM_001037335.2	58	0,3,6450	TT,TC,CC		0.0,0.069,0.0232	benign	527/2650	62199862	3,12903	2175	4278	6453	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1579G>A	20.37:g.62199862C>T	ENSP00000417401:p.Ala527Thr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A527T	ENST00000467148.1	37	c.1579	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	4.468	0.086736	0.08583	6.9E-4	0.0	ENSG00000130589	ENST00000467148	T	0.77098	-1.07	4.49	0.844	0.18943	.	1.238380	0.06131	N	0.670701	T	0.62998	0.2474	N	0.25992	0.78	0.09310	N	1	B	0.24576	0.106	B	0.21708	0.036	T	0.47749	-0.9093	10	0.27785	T	0.31	-15.856	4.7947	0.13267	0.1725:0.507:0.0:0.3205	.	527	Q9BYK8	PR285_HUMAN	T	527	ENSP00000417401:A527T	ENSP00000417401:A527T	A	-	1	0	RP4-697K14.7	61670306	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.064000	0.11636	0.327000	0.23409	0.558000	0.71614	GCG	HELZ2	-	NULL		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62199862	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.000	T
HERC2	8924	genome.wustl.edu	37	15	28387979	28387979	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:28387979G>A	ENST00000261609.7	-	75	11646	c.11538C>T	c.(11536-11538)ttC>ttT	p.F3846F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTACCTTAAAGAATGGGCTGT	0.423																																																	0													20.0	20.0	20.0					15																	28387979		2187	4275	6462	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11538C>T	15.37:g.28387979G>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.F3846	ENST00000261609.7	37	c.11538	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28387979	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	1.000	A
HERC6	55008	genome.wustl.edu	37	4	89363429	89363429	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:89363429G>A	ENST00000264346.7	+	23	2945	c.2886G>A	c.(2884-2886)caG>caA	p.Q962Q	HERC6_ENST00000380265.5_Silent_p.Q926Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	962	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q962H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAGGCATACAGAAAATGGAAA	0.343																																																	1	Substitution - Missense(1)	lung(1)											73.0	68.0	69.0					4																	89363429		1862	4103	5965	SO:0001819	synonymous_variant	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2886G>A	4.37:g.89363429G>A			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q962	ENST00000264346.7	37	c.2886	CCDS47098.1	4																																																																																			HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.343	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	G			89363429	+1	no_errors	ENST00000264346	ensembl	human	known	70_37	silent	SNP	0.000	A
HERC5	51191	genome.wustl.edu	37	4	89407319	89407319	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:89407319C>G	ENST00000264350.3	+	14	1944	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	HERC5_ENST00000508159.1_Silent_p.L235L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	597					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L597L(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAGACGAACTCTTGCACCGTC	0.328																																					Esophageal Squamous(39;887 1012 34045 50514)												1	Substitution - coding silent(1)	large_intestine(1)											135.0	137.0	136.0					4																	89407319		2203	4300	6503	SO:0001819	synonymous_variant	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1791C>G	4.37:g.89407319C>G			B2RTQ1|Q69G20	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L597	ENST00000264350.3	37	c.1791	CCDS3630.1	4																																																																																			HERC5	-	NULL		0.328	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89407319	+1	no_errors	ENST00000264350	ensembl	human	known	70_37	silent	SNP	0.170	G
HEXDC	284004	genome.wustl.edu	37	17	80400180	80400180	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:80400180C>G	ENST00000327949.9	+	12	1392	c.1381C>G	c.(1381-1383)Ctg>Gtg	p.L461V	HEXDC_ENST00000577944.1_Missense_Mutation_p.S463C|HEXDC_ENST00000337014.6_Silent_p.L490L			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	461					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGCAAGCTCTGCTGCAGGA	0.682																																																	0													19.0	23.0	21.0					17																	80400180		1972	4150	6122	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1381C>G	17.37:g.80400180C>G	ENSP00000332634:p.Leu461Val		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.L461V	ENST00000327949.9	37	c.1381		17	.	.	.	.	.	.	.	.	.	.	C	5.581	0.292006	0.10567	.	.	ENSG00000169660	ENST00000327949	T	0.33865	1.39	5.25	4.26	0.50523	.	1.159490	0.06066	N	0.659234	T	0.28699	0.0711	.	.	.	0.22199	N	0.999295	B	0.26902	0.163	B	0.23018	0.043	T	0.22556	-1.0213	9	0.45353	T	0.12	0.7962	7.4048	0.26985	0.0:0.6303:0.2752:0.0944	.	461	Q8WVB3	HEXDC_HUMAN	V	461	ENSP00000332634:L461V	ENSP00000332634:L461V	L	+	1	2	HEXDC	77993469	0.089000	0.21612	0.399000	0.26333	0.304000	0.27724	0.520000	0.22878	1.148000	0.42385	0.561000	0.74099	CTG	HEXDC	-	NULL		0.682	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	C	NM_173620		80400180	+1	no_errors	ENST00000327949	ensembl	human	known	70_37	missense	SNP	0.451	G
HGFAC	3083	genome.wustl.edu	37	4	3447863	3447863	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:3447863G>T	ENST00000382774.3	+	10	1312	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	HGFAC_ENST00000511533.1_Missense_Mutation_p.K406N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	399					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGAGGCACAAGAAGAGGACGT	0.682																																																	0													25.0	25.0	25.0					4																	3447863		2198	4294	6492	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1197G>T	4.37:g.3447863G>T	ENSP00000372224:p.Lys399Asn		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K399N	ENST00000382774.3	37	c.1197	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207603	0.22205	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.42	3.73	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);	0.203051	0.41194	D	0.000924	T	0.77110	0.4082	L	0.34521	1.04	0.45172	D	0.998186	P;B	0.35714	0.517;0.004	B;B	0.31245	0.126;0.006	T	0.67841	-0.5566	10	0.12766	T	0.61	.	5.8438	0.18652	0.2412:0.0:0.7588:0.0	.	406;399	D6RAR4;Q04756	.;HGFA_HUMAN	N	399;406	ENSP00000372224:K399N;ENSP00000421801:K406N	ENSP00000372224:K399N	K	+	3	2	HGFAC	3417661	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	2.272000	0.43373	0.784000	0.33661	-0.140000	0.14226	AAG	HGFAC	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA		0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3447863	+1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	T
HGFAC	3083	genome.wustl.edu	37	4	3447866	3447866	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:3447866G>T	ENST00000382774.3	+	10	1315	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	HGFAC_ENST00000511533.1_Missense_Mutation_p.K407N	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	400					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCACAAGAAGAGGACGTTCC	0.687																																																	0																																										SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1200G>T	4.37:g.3447866G>T	ENSP00000372224:p.Lys400Asn		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K400N	ENST00000382774.3	37	c.1200	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429632	0.43122	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.89050	-2.46;-2.46	3.73	1.89	0.25635	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	L	0.36672	1.1	0.43412	D	0.995552	D;B	0.89917	1.0;0.144	D;B	0.80764	0.994;0.098	D	0.85187	0.1007	10	0.52906	T	0.07	.	5.4667	0.16648	0.3963:0.0:0.6037:0.0	.	407;400	D6RAR4;Q04756	.;HGFA_HUMAN	N	400;407	ENSP00000372224:K400N;ENSP00000421801:K407N	ENSP00000372224:K400N	K	+	3	2	HGFAC	3417664	0.990000	0.36364	0.967000	0.41034	0.049000	0.14656	0.109000	0.15417	0.222000	0.20900	0.655000	0.94253	AAG	HGFAC	-	superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA		0.687	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3447866	+1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	T
HIF1A	3091	genome.wustl.edu	37	14	62203827	62203827	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:62203827G>A	ENST00000337138.4	+	9	1514	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HIF1A_ENST00000557538.1_Splice_Site_p.D358N|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Splice_Site_p.D417N|HIF1A_ENST00000539097.1_Splice_Site_p.D441N|HIF1A_ENST00000394997.1_Splice_Site_p.D418N|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	417	N-terminal VHL recognition site.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGGCAGCAACGGTGAGTAGTT	0.393																																																	0													92.0	90.0	91.0					14																	62203827		2203	4300	6503	SO:0001630	splice_region_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1249+1G>A	14.37:g.62203827G>A			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.D441N	ENST00000337138.4	37	c.1321	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823248	0.71143	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.53640	0.72;0.72;0.61;0.72;0.71	6.01	6.01	0.97437	.	0.505914	0.22268	N	0.062301	T	0.43656	0.1257	L	0.49778	1.585	0.58432	D	0.999996	B;P;P	0.40376	0.0;0.715;0.715	B;B;B	0.32342	0.0;0.144;0.144	T	0.34850	-0.9812	10	0.33940	T	0.23	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	418;417;417	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	N	168;358;417;418;417;358;441	ENSP00000338018:D417N;ENSP00000378446:D418N;ENSP00000323326:D417N;ENSP00000451696:D358N;ENSP00000437955:D441N	ENSP00000323326:D417N	D	+	1	0	HIF1A	61273580	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.136000	0.94489	2.861000	0.98227	0.650000	0.86243	GAC	HIF1A	-	prints_HIF-1_alpha		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	G	NM_001530	Missense_Mutation	62203827	+1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	A
HIPK1	204851	genome.wustl.edu	37	1	114483792	114483792	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:114483792C>G	ENST00000369558.1	+	2	1019	c.787C>G	c.(787-789)Cac>Gac	p.H263D	HIPK1_ENST00000369554.2_Missense_Mutation_p.H263D|HIPK1_ENST00000369559.4_Missense_Mutation_p.H263D|HIPK1_ENST00000369555.2_Missense_Mutation_p.H263D|HIPK1_ENST00000369561.4_Missense_Mutation_p.H263D|HIPK1_ENST00000426820.2_Missense_Mutation_p.H263D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATAAGAATCACACCTGCCT	0.393																																																	0													96.0	93.0	94.0					1																	114483792		2203	4300	6503	SO:0001583	missense	204851			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.787C>G	1.37:g.114483792C>G	ENSP00000358571:p.His263Asp		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H263D	ENST00000369558.1	37	c.787	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195404	0.78902	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.70727	0.3257	L	0.42529	1.33	0.80722	D	1	D;D	0.62365	0.991;0.96	D;D	0.76071	0.987;0.948	T	0.72279	-0.4340	10	0.87932	D	0	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	263;263	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	D	334;263;263;263;263;263;263	ENSP00000407442:H334D;ENSP00000358572:H263D;ENSP00000409673:H263D;ENSP00000358567:H263D;ENSP00000358568:H263D;ENSP00000358571:H263D;ENSP00000358574:H263D	ENSP00000358567:H263D	H	+	1	0	HIPK1	114285315	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.770000	0.85390	2.752000	0.94435	0.557000	0.71058	CAC	HIPK1	-	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		0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	C	NM_198268		114483792	+1	no_errors	ENST00000369558	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H1C	3006	genome.wustl.edu	37	6	26056270	26056270	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26056270C>G	ENST00000343677.2	-	1	429	c.387G>C	c.(385-387)aaG>aaC	p.K129N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	129					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CAACTGGCTTCTTAGGTTTGG	0.577																																																	0													58.0	69.0	65.0					6																	26056270		2199	4297	6496	SO:0001583	missense	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.387G>C	6.37:g.26056270C>G	ENSP00000339566:p.Lys129Asn		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K129N	ENST00000343677.2	37	c.387	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181103	0.38511	.	.	ENSG00000187837	ENST00000343677	T	0.24538	1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.08118	0	0.80722	D	1	P	0.52577	0.954	B	0.44044	0.439	T	0.06481	-1.0824	10	0.72032	D	0.01	-6.1029	18.8173	0.92081	0.0:1.0:0.0:0.0	.	129	P16403	H12_HUMAN	N	129	ENSP00000339566:K129N	ENSP00000339566:K129N	K	-	3	2	HIST1H1C	26164249	1.000000	0.71417	0.987000	0.45799	0.098000	0.18820	2.587000	0.46128	2.763000	0.94921	0.655000	0.94253	AAG	HIST1H1C	-	prints_Histone_H5		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	C	NM_005319		26056270	-1	no_errors	ENST00000343677	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H2BC	8347	genome.wustl.edu	37	6	26123904	26123904	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26123904C>T	ENST00000314332.5	-	1	234	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E77K|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	77					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CGGGAAGCCTCGCCCGCGATG	0.587																																																	0													111.0	110.0	110.0					6																	26123904		2203	4300	6503	SO:0001583	missense	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.229G>A	6.37:g.26123904C>T	ENSP00000321744:p.Glu77Lys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000314332.5	37	c.229	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	35	5.464383	0.96257	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.34472	1.36;1.36	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.49830	0.1580	.	.	.	0.45066	D	0.998087	D	0.67145	0.996	P	0.58970	0.849	T	0.47611	-0.9104	8	0.54805	T	0.06	.	18.9929	0.92801	0.0:1.0:0.0:0.0	.	77	P62807	H2B1C_HUMAN	K	77	ENSP00000321744:E77K;ENSP00000380180:E77K	ENSP00000321744:E77K	E	-	1	0	HIST1H2BC	26231883	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.951000	0.70273	2.799000	0.96334	0.650000	0.86243	GAG	HIST1H2BC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.587	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1	C	NM_003526		26123904	-1	no_errors	ENST00000314332	ensembl	human	known	70_37	missense	SNP	1.000	T
HIST1H1E	3008	genome.wustl.edu	37	6	26156684	26156684	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:26156684G>A	ENST00000304218.3	+	1	126	c.66G>A	c.(64-66)aaG>aaA	p.K22K	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	22					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGTGAAGAAGAAGGCCCGCA	0.652																																																	0													36.0	45.0	42.0					6																	26156684		2170	4274	6444	SO:0001819	synonymous_variant	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.66G>A	6.37:g.26156684G>A			Q4VB25	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K22	ENST00000304218.3	37	c.66	CCDS4586.1	6																																																																																			HIST1H1E	-	NULL		0.652	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156684	+1	no_errors	ENST00000304218	ensembl	human	known	70_37	silent	SNP	1.000	A
HIST1H2BK	85236	genome.wustl.edu	37	6	27114563	27114563	+	Silent	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:27114563C>A	ENST00000356950.1	-	1	14	c.15G>T	c.(13-15)gcG>gcT	p.A5A	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Silent_p.A5A			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	5					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGCGGACTTCGCTGGTTCCG	0.567																																																	0													56.0	56.0	56.0					6																	27114563		2203	4300	6503	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.15G>T	6.37:g.27114563C>A			A8K7P7|Q2VPI7	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A5	ENST00000356950.1	37	c.15	CCDS4621.1	6																																																																																			HIST1H2BK	-	superfamily_Histone-fold		0.567	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	C	NM_080593		27114563	-1	no_errors	ENST00000356950	ensembl	human	known	70_37	silent	SNP	0.003	A
HIST1H1B	3009	genome.wustl.edu	37	6	27834888	27834888	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:27834888C>T	ENST00000331442.3	-	1	471	c.420G>A	c.(418-420)aaG>aaA	p.K140K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	140					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCTTGGCCTTCTTAGGCGTGG	0.607																																																	0													92.0	108.0	102.0					6																	27834888		2202	4298	6500	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.420G>A	6.37:g.27834888C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K140	ENST00000331442.3	37	c.420	CCDS4635.1	6																																																																																			HIST1H1B	-	NULL		0.607	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834888	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	1.000	T
HIVEP2	3097	genome.wustl.edu	37	6	143090691	143090691	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:143090691G>C	ENST00000367604.1	-	4	5824	c.5185C>G	c.(5185-5187)Cag>Gag	p.Q1729E	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q1729E|HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q1729E			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTGTTACCTGAGTAAACTGC	0.383																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													86.0	79.0	81.0					6																	143090691		1867	4119	5986	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5185C>G	6.37:g.143090691G>C	ENSP00000356576:p.Gln1729Glu		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1729E	ENST00000367604.1	37	c.5185	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988717	0.18966	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02121	4.44;4.44;4.44	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	L	0.35723	1.085	0.80722	D	1	D	0.62365	0.991	P	0.54544	0.755	T	0.64622	-0.6364	10	0.35671	T	0.21	-19.0191	20.031	0.97536	0.0:0.0:1.0:0.0	.	1729	P31629	ZEP2_HUMAN	E	1729	ENSP00000356576:Q1729E;ENSP00000356575:Q1729E;ENSP00000012134:Q1729E	ENSP00000012134:Q1729E	Q	-	1	0	HIVEP2	143132384	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.782000	0.85680	2.735000	0.93741	0.655000	0.94253	CAG	HIVEP2	-	NULL		0.383	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	G			143090691	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	C
HIVEP2	3097	genome.wustl.edu	37	6	143091090	143091090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:143091090C>A	ENST00000367604.1	-	4	5425	c.4786G>T	c.(4786-4788)Gag>Tag	p.E1596*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.E1596*|HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.E1596*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCCCTTCCTCTTCCAGCTGA	0.542																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													77.0	84.0	82.0					6																	143091090		2108	4238	6346	SO:0001587	stop_gained	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4786G>T	6.37:g.143091090C>A	ENSP00000356576:p.Glu1596*		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1596*	ENST00000367604.1	37	c.4786	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	49	14.980722	0.99817	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.95	5.95	0.96441	.	0.373318	0.33110	N	0.005266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.1898	20.3697	0.98890	0.0:1.0:0.0:0.0	.	.	.	.	X	1596	.	ENSP00000012134:E1596X	E	-	1	0	HIVEP2	143132783	1.000000	0.71417	0.993000	0.49108	0.649000	0.38597	5.661000	0.68025	2.811000	0.96726	0.655000	0.94253	GAG	HIVEP2	-	NULL		0.542	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143091090	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HKR1	284459	genome.wustl.edu	37	19	37853492	37853492	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:37853492G>A	ENST00000324411.4	+	6	1064	c.795G>A	c.(793-795)aaG>aaA	p.K265K	HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000392153.3_Silent_p.K246K|HKR1_ENST00000541583.2_Silent_p.K204K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Silent_p.K247K	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	265					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTCCAGAAGACACAAACTG	0.458																																																	0													47.0	48.0	48.0					19																	37853492		2203	4300	6503	SO:0001819	synonymous_variant	284459			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.795G>A	19.37:g.37853492G>A			A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K265	ENST00000324411.4	37	c.795	CCDS12502.1	19																																																																																			HKR1	-	NULL		0.458	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	G	NM_181786		37853492	+1	no_errors	ENST00000324411	ensembl	human	known	70_37	silent	SNP	0.092	A
HN1	51155	genome.wustl.edu	37	17	73150528	73150528	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:73150528G>C	ENST00000409753.3	-	0	250				HN1_ENST00000581874.1_5'UTR|HN1_ENST00000470924.1_5'Flank|HN1_ENST00000481647.1_5'Flank|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000356033.4_5'UTR|HN1_ENST00000476258.1_5'Flank|HN1_ENST00000482348.1_5'Flank|HN1_ENST00000465454.1_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1						developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CGCCGGAGCAGAACGCTCAAA	0.677																																																	0													32.0	21.0	24.0					17																	73150528		1710	3175	4885	SO:0001623	5_prime_UTR_variant	51155			AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.-36C>G	17.37:g.73150528G>C			B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	RNA	SNP	-	NULL	ENST00000409753.3	37	NULL	CCDS45771.1	17																																																																																			HN1	-	-		0.677	HN1-001	KNOWN	basic|CCDS	protein_coding	HN1	HGNC	protein_coding	OTTHUMT00000335692.1	G	NM_001002032		73150528	-1	no_errors	ENST00000465454	ensembl	human	known	70_37	rna	SNP	0.001	C
HNRNPR	10236	genome.wustl.edu	37	1	23670749	23670749	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:23670749G>C	ENST00000374612.1	-	0	66				HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000302271.6_5'UTR|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000374616.3_5'UTR|HNRNPR_ENST00000427764.2_5'UTR|HNRNPR_ENST00000606561.1_5'UTR	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)		GAATCAGCGCGAGGCGCTTTG	0.726																																																	0																																										SO:0001623	5_prime_UTR_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	ENST00000374612.1:c.-58C>G	1.37:g.23670749G>C			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	SNP	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-		0.726	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23670749	-1	no_errors	ENST00000478691	ensembl	human	known	70_37	rna	SNP	1.000	C
HORMAD1	84072	genome.wustl.edu	37	1	150671161	150671161	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150671161C>G	ENST00000361824.2	-	15	1259	c.1154G>C	c.(1153-1155)aGa>aCa	p.R385T	GOLPH3L_ENST00000479757.1_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R385T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R378T|GOLPH3L_ENST00000271732.3_5'Flank|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R305T	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	385					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTAAACTTTCTCCTTTTTGG	0.338																																																	0													77.0	80.0	79.0					1																	150671161		2203	4297	6500	SO:0001583	missense	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1154G>C	1.37:g.150671161C>G	ENSP00000355167:p.Arg385Thr		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R385T	ENST00000361824.2	37	c.1154	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058113	0.76074	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.59906	0.23;1.23;0.86;1.23	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.55162	0.1903	L	0.34521	1.04	0.53688	D	0.999972	D;D;D	0.63046	0.992;0.992;0.969	P;P;P	0.59357	0.856;0.856;0.691	T	0.60772	-0.7197	10	0.59425	D	0.04	-18.062	16.5685	0.84605	0.0:1.0:0.0:0.0	.	305;378;385	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	T	305;385;314;305;378;385	ENSP00000357991:R305T;ENSP00000357989:R385T;ENSP00000326489:R378T;ENSP00000355167:R385T	ENSP00000326489:R378T	R	-	2	0	HORMAD1	148937785	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.305000	0.51873	2.228000	0.72767	0.455000	0.32223	AGA	HORMAD1	-	NULL		0.338	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	C	NM_032132		150671161	-1	no_errors	ENST00000361824	ensembl	human	known	70_37	missense	SNP	1.000	G
HOXB2	3212	genome.wustl.edu	37	17	46622258	46622258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:46622258C>A	ENST00000330070.4	-	1	1183	c.16G>T	c.(16-18)Gag>Tag	p.E6*	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	6					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ATCTCCCTCTCAAATTCAAAA	0.572																																																	0													32.0	38.0	36.0					17																	46622258		2203	4300	6503	SO:0001587	stop_gained	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.16G>T	17.37:g.46622258C>A	ENSP00000331741:p.Glu6*		P10913|P17485	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E6*	ENST00000330070.4	37	c.16	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	C	47	13.296402	0.99733	.	.	ENSG00000173917	ENST00000330070	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000331741:E6X	E	-	1	0	HOXB2	43977257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	GAG	HOXB2	-	NULL		0.572	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	C			46622258	-1	no_errors	ENST00000330070	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HOXB5	3215	genome.wustl.edu	37	17	46670955	46670955	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:46670955C>G	ENST00000239151.5	-	1	368	c.90G>C	c.(88-90)ctG>ctC	p.L30L	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	30					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						AAGAGCCGCTCAGAGAGCTGC	0.537																																																	0													36.0	36.0	36.0					17																	46670955		1965	3907	5872	SO:0001819	synonymous_variant	3215				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.90G>C	17.37:g.46670955C>G			B2RC69|P09069|Q17RP4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.L30	ENST00000239151.5	37	c.90	CCDS11530.1	17																																																																																			HOXB5	-	NULL		0.537	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	HGNC	protein_coding	OTTHUMT00000358148.2	C			46670955	-1	no_errors	ENST00000239151	ensembl	human	known	70_37	silent	SNP	1.000	G
HOXC10	3226	genome.wustl.edu	37	12	54383746	54383746	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:54383746C>T	ENST00000303460.4	+	0	1619				MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AAACCCTCTCCATGTCTTTAC	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	3226				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.*516C>T	12.37:g.54383746C>T			O15219|O15220|Q9BVD5	RNA	SNP	-	NULL	ENST00000303460.4	37	NULL	CCDS8868.1	12																																																																																			HOXC10	-	-		0.502	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2	C			54383746	+1	no_errors	ENST00000511575	ensembl	human	known	70_37	rna	SNP	0.440	T
HP09025	100652929	genome.wustl.edu	37	17	77685232	77685232	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:77685232G>A	ENST00000397549.2	+	0	3343				snoU13_ENST00000459036.1_RNA																							GGTCATGGATGAGATCAGTAA	0.498																																																	0													37.0	28.0	31.0					17																	77685232		692	1591	2283			100652929																															17.37:g.77685232G>A				RNA	SNP	-	NULL	ENST00000397549.2	37	NULL		17																																																																																			CTD-2116F7.1	-	-		0.498	CTD-2116F7.1-001	KNOWN	basic	lincRNA	HP09025	Clone_based_vega_gene	lincRNA	OTTHUMT00000437037.1	G			77685232	+1	no_errors	ENST00000397549	ensembl	human	known	70_37	rna	SNP	0.000	A
HP1BP3	50809	genome.wustl.edu	37	1	21083712	21083712	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:21083712C>G	ENST00000312239.5	-	9	1067	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	HP1BP3_ENST00000375003.2_Missense_Mutation_p.E158Q	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	310	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGCCCCTCTCTACTGCTCTC	0.403																																																	0													82.0	80.0	80.0					1																	21083712		2203	4300	6503	SO:0001583	missense	50809			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.928G>C	1.37:g.21083712C>G	ENSP00000312625:p.Glu310Gln		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5	p.E310Q	ENST00000312239.5	37	c.928	CCDS30621.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327264	0.81690	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.24723	1.85;1.85;1.85;1.85;1.84	5.96	5.96	0.96718	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.58354	1.805	0.80722	D	1	P;P	0.36354	0.493;0.549	B;B	0.43413	0.369;0.419	T	0.10660	-1.0620	10	0.72032	D	0.01	-2.6674	20.3866	0.98944	0.0:1.0:0.0:0.0	.	272;310	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	Q	310;272;158;169;310;272	ENSP00000312625:E310Q;ENSP00000364142:E158Q;ENSP00000391721:E169Q;ENSP00000403039:E310Q;ENSP00000402754:E272Q	ENSP00000312625:E310Q	E	-	1	0	HP1BP3	20956299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.371000	0.73119	2.826000	0.97356	0.650000	0.86243	GAG	HP1BP3	-	pfam_Histone_H1/H5,smart_Histone_H1/H5		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	C	NM_016287		21083712	-1	no_errors	ENST00000312239	ensembl	human	known	70_37	missense	SNP	1.000	G
HRAS	3265	genome.wustl.edu	37	11	534330	534330	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:534330C>T	ENST00000451590.1	-	0	180				HRAS_ENST00000417302.1_5'UTR|HRAS_ENST00000397594.1_5'UTR|HRAS_ENST00000397596.2_5'UTR|HRAS_ENST00000311189.7_5'UTR|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATCGCTCCTCAGGGGCCTGC	0.672		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	0													44.0	44.0	44.0					11																	534330		2199	4299	6498	SO:0001623	5_prime_UTR_variant	3265	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.-8G>A	11.37:g.534330C>T			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	RNA	SNP	-	NULL	ENST00000451590.1	37	NULL	CCDS7698.1	11																																																																																			HRAS	-	-		0.672	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	HGNC	protein_coding	OTTHUMT00000259403.2	C	NM_176795		534330	-1	no_errors	ENST00000468682	ensembl	human	known	70_37	rna	SNP	0.054	T
HS6ST2	90161	genome.wustl.edu	37	X	132091225	132091225	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:132091225G>A	ENST00000370836.2	-	3	973	c.558C>T	c.(556-558)ttC>ttT	p.F186F	HS6ST2_ENST00000370833.2_Silent_p.F40F|HS6ST2_ENST00000521489.1_Silent_p.F186F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	186					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGAGCTGAACGCCTGCA	0.632																																																	0													37.0	40.0	39.0					X																	132091225		2056	4162	6218	SO:0001819	synonymous_variant	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.558C>T	X.37:g.132091225G>A			B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	pfam_Sulfotransferase	p.F186	ENST00000370836.2	37	c.558	CCDS48169.1	X																																																																																			HS6ST2	-	NULL		0.632	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		132091225	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	silent	SNP	0.999	A
HSF2	3298	genome.wustl.edu	37	6	122743932	122743932	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:122743932G>A	ENST00000368455.4	+	9	1092	c.900G>A	c.(898-900)caG>caA	p.Q300Q	HSF2_ENST00000452194.1_Silent_p.Q300Q	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	300					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CTGTCATTCAGAGTGGAGAGC	0.453																																																	0													102.0	94.0	97.0					6																	122743932		2203	4300	6503	SO:0001819	synonymous_variant	3298			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.900G>A	6.37:g.122743932G>A			B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.Q300	ENST00000368455.4	37	c.900	CCDS5124.1	6																																																																																			HSF2	-	pfam_Vert_HS_TF		0.453	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1	G	NM_004506		122743932	+1	no_errors	ENST00000368455	ensembl	human	known	70_37	silent	SNP	1.000	A
HSH2D	84941	genome.wustl.edu	37	19	16263369	16263369	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16263369G>A	ENST00000253680.6	+	5	664	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HSH2D_ENST00000593154.2_Missense_Mutation_p.E45K|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Missense_Mutation_p.E45K			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	45	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGGGATGCTGAGAACTTGCT	0.557																																																	0													71.0	69.0	70.0					19																	16263369		2038	4198	6236	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.133G>A	19.37:g.16263369G>A	ENSP00000253680:p.Glu45Lys		B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.E45K	ENST00000253680.6	37	c.133		19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659214	0.47467	.	.	ENSG00000196684	ENST00000253680	D	0.91740	-2.9	4.82	4.82	0.62117	SH2 motif (5);	0.000000	0.64402	D	0.000008	D	0.96423	0.8833	M	0.90425	3.115	0.24876	N	0.992254	D	0.76494	0.999	D	0.87578	0.998	D	0.91144	0.4948	10	0.87932	D	0	.	13.2833	0.60228	0.0:0.0:1.0:0.0	.	45	Q96JZ2	HSH2D_HUMAN	K	45	ENSP00000253680:E45K	ENSP00000253680:E45K	E	+	1	0	HSH2D	16124369	1.000000	0.71417	0.132000	0.22025	0.009000	0.06853	4.522000	0.60539	2.506000	0.84524	0.563000	0.77884	GAG	HSH2D	-	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2		0.557	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding		G	NM_032855		16263369	+1	no_errors	ENST00000253680	ensembl	human	known	70_37	missense	SNP	0.210	A
HSH2D	84941	genome.wustl.edu	37	19	16263980	16263980	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16263980G>C	ENST00000253680.6	+	6	874	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	HSH2D_ENST00000593154.2_Missense_Mutation_p.E115Q|HSH2D_ENST00000397372.4_Missense_Mutation_p.E26Q|HSH2D_ENST00000588246.1_Missense_Mutation_p.E115Q			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GAAGCCAATTGAGCCGCGCAG	0.637																																																	0													15.0	18.0	17.0					19																	16263980		1996	4145	6141	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.343G>C	19.37:g.16263980G>C	ENSP00000253680:p.Glu115Gln		B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.E115Q	ENST00000253680.6	37	c.343		19	.	.	.	.	.	.	.	.	.	.	G	1.606	-0.525377	0.04141	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.42900	0.96	4.63	-1.37	0.09056	SH2 motif (3);	1.707120	0.03675	N	0.244607	T	0.19167	0.0460	N	0.10809	0.05	0.09310	N	1	B;B	0.18013	0.025;0.002	B;B	0.14023	0.01;0.004	T	0.07046	-1.0793	10	0.15066	T	0.55	.	0.5553	0.00669	0.2943:0.3219:0.1825:0.2014	.	58;115	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	Q	26;115	ENSP00000253680:E115Q	ENSP00000253680:E115Q	E	+	1	0	HSH2D	16124980	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.750000	0.04808	-0.282000	0.09128	0.591000	0.81541	GAG	HSH2D	-	smart_SH2,pfscan_SH2		0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding		G	NM_032855		16263980	+1	no_errors	ENST00000253680	ensembl	human	known	70_37	missense	SNP	0.000	C
HSP90AA1	3320	genome.wustl.edu	37	14	102548615	102548615	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:102548615G>C	ENST00000216281.8	-	10	2127	c.1922C>G	c.(1921-1923)tCc>tGc	p.S641C	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.S763C	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	641					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CTCAATAATGGAATGGTCAGG	0.443																																																	0													179.0	180.0	180.0					14																	102548615		2203	4300	6503	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1922C>G	14.37:g.102548615G>C	ENSP00000216281:p.Ser641Cys		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.S763C	ENST00000216281.8	37	c.2288	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	g	22.9	4.349045	0.82132	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.11277	2.79;2.79	4.51	4.51	0.55191	.	0.065142	0.64402	U	0.000006	T	0.46983	0.1421	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.971	T	0.66681	-0.5862	10	0.62326	D	0.03	-21.9566	17.5881	0.87988	0.0:0.0:1.0:0.0	.	763;641	P07900-2;P07900	.;HS90A_HUMAN	C	641;763	ENSP00000216281:S641C;ENSP00000335153:S763C	ENSP00000216281:S641C	S	-	2	0	HSP90AA1	101618368	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.436000	0.97532	2.228000	0.72767	0.585000	0.79938	TCC	HSP90AA1	-	pirsf_Hsp90,pfam_Hsp90		0.443	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2	G	NM_005348		102548615	-1	no_errors	ENST00000334701	ensembl	human	known	70_37	missense	SNP	1.000	C
HSPBAP1	79663	genome.wustl.edu	37	3	122459521	122459521	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:122459521C>A	ENST00000306103.2	-	8	1281	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	380						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCCGGTTTGTCTGTTCCTGTG	0.502																																																	0													186.0	180.0	182.0					3																	122459521		2203	4300	6503	SO:0001583	missense	79663			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1138G>T	3.37:g.122459521C>A	ENSP00000302562:p.Asp380Tyr		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.D380Y	ENST00000306103.2	37	c.1138	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883787	0.17467	.	.	ENSG00000169087	ENST00000306103	T	0.30981	1.51	5.1	-1.02	0.10135	.	4.022440	0.00166	N	0.000011	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20371	-1.0277	10	0.15066	T	0.55	.	9.5206	0.39133	0.0:0.5757:0.0:0.4243	.	380	Q96EW2	HBAP1_HUMAN	Y	380	ENSP00000302562:D380Y	ENSP00000302562:D380Y	D	-	1	0	HSPBAP1	123942211	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-0.410000	0.07542	0.655000	0.94253	GAC	HSPBAP1	-	NULL		0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	C	NM_024610		122459521	-1	no_errors	ENST00000306103	ensembl	human	known	70_37	missense	SNP	0.000	A
HSPH1	10808	genome.wustl.edu	37	13	31717984	31717984	+	Missense_Mutation	SNP	G	G	C	rs201014398		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:31717984G>C	ENST00000320027.5	-	12	2005	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C	HSPH1_ENST00000380406.5_Missense_Mutation_p.S513C|HSPH1_ENST00000380405.4_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.S556C|HSPH1_ENST00000429785.2_Missense_Mutation_p.S373C	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	554					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGAAGGGGGAGACTGTGAGGT	0.438																																																	0													228.0	208.0	214.0					13																	31717984		2203	4300	6503	SO:0001583	missense	10808			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1661C>G	13.37:g.31717984G>C	ENSP00000318687:p.Ser554Cys		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.S556C	ENST00000320027.5	37	c.1667	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855506	0.32791	.	.	ENSG00000120694	ENST00000320027;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T	0.04917	4.93;4.84;4.79;3.53	5.75	4.87	0.63330	.	0.193203	0.44483	D	0.000441	T	0.04907	0.0132	N	0.10809	0.05	0.43583	D	0.995927	B;B;B;B	0.14805	0.011;0.001;0.006;0.006	B;B;B;B	0.15870	0.014;0.007;0.014;0.009	T	0.47315	-0.9127	10	0.44086	T	0.13	-20.8852	16.7961	0.85602	0.0:0.139:0.861:0.0	.	373;513;556;554	B4DY72;Q92598-3;B4DYH1;Q92598	.;.;.;HS105_HUMAN	C	554;513;556;373;605	ENSP00000318687:S554C;ENSP00000369769:S513C;ENSP00000396090:S556C;ENSP00000388778:S373C	ENSP00000318687:S554C	S	-	2	0	HSPH1	30615984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.045000	0.64220	2.716000	0.92895	0.655000	0.94253	TCT	HSPH1	-	pfam_Hsp_70_fam		0.438	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	G			31717984	-1	no_errors	ENST00000445273	ensembl	human	known	70_37	missense	SNP	1.000	C
HTR3B	9177	genome.wustl.edu	37	11	113813817	113813817	+	Missense_Mutation	SNP	G	G	C	rs549253438		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:113813817G>C	ENST00000260191.2	+	7	1067	c.810G>C	c.(808-810)agG>agC	p.R270S	HTR3B_ENST00000537778.1_Missense_Mutation_p.R259S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	270					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GCCGAGCCAGGATTGTGTTCA	0.572																																																	0													114.0	88.0	97.0					11																	113813817		2201	4296	6497	SO:0001583	missense	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.810G>C	11.37:g.113813817G>C	ENSP00000260191:p.Arg270Ser		B0YJ23|Q0VJC3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.R270S	ENST00000260191.2	37	c.810	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654660	0.67472	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.89681	-2.55;-2.55	5.41	4.49	0.54785	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.90145	3.09	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95595	0.8658	10	0.87932	D	0	-19.6737	13.2223	0.59894	0.0777:0.0:0.9223:0.0	.	259;270	O95264-2;O95264	.;5HT3B_HUMAN	S	270;259	ENSP00000260191:R270S;ENSP00000443118:R259S	ENSP00000260191:R270S	R	+	3	2	HTR3B	113319027	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	3.410000	0.52664	1.264000	0.44198	0.650000	0.86243	AGG	HTR3B	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	G	NM_006028		113813817	+1	no_errors	ENST00000260191	ensembl	human	known	70_37	missense	SNP	1.000	C
HTR7	3363	genome.wustl.edu	37	10	92508964	92508964	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:92508964G>A	ENST00000336152.3	-	2	953	c.927C>T	c.(925-927)ctC>ctT	p.L309L	HTR7_ENST00000371721.3_Silent_p.L309L|HTR7_ENST00000371719.2_Silent_p.L309L|HTR7_ENST00000277874.6_Silent_p.L309L	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	309					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTCATGCTTGAGGAGTCTCG	0.542																																																	0													84.0	69.0	74.0					10																	92508964		2203	4300	6503	SO:0001819	synonymous_variant	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.927C>T	10.37:g.92508964G>A			B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.L309	ENST00000336152.3	37	c.927	CCDS7408.1	10																																																																																			HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt		0.542	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	G	NM_000872		92508964	-1	no_errors	ENST00000336152	ensembl	human	known	70_37	silent	SNP	0.996	A
HEBP1	50865	genome.wustl.edu	37	12	13155782	13155782	+	5'Flank	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:13155782G>C	ENST00000014930.4	-	0	0				RP11-377D9.3_ENST00000543321.1_lincRNA|HEBP1_ENST00000536942.1_5'Flank	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGGGATAATGGAGATGAAATA	0.408																																																	0																																										SO:0001631	upstream_gene_variant	93164			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13155782G>C	Exception_encountered		A8K1G2|Q9Y5Z5	RNA	SNP	-	NULL	ENST00000014930.4	37	NULL	CCDS31749.1	12																																																																																			HTR7P1	-	-		0.408	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR7P1	HGNC	protein_coding	OTTHUMT00000401001.1	G			13155782	+1	no_errors	ENST00000535469	ensembl	human	known	70_37	rna	SNP	0.472	C
HYDIN	54768	genome.wustl.edu	37	16	71101200	71101200	+	Missense_Mutation	SNP	T	T	C	rs10744982	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71101200T>C	ENST00000393567.2	-	15	2218	c.2068A>G	c.(2068-2070)Aca>Gca	p.T690A	HYDIN_ENST00000541601.1_Missense_Mutation_p.T707A|HYDIN_ENST00000448691.1_Missense_Mutation_p.T690A|HYDIN_ENST00000288168.10_Missense_Mutation_p.T707A|HYDIN_ENST00000321489.5_Missense_Mutation_p.T690A|HYDIN_ENST00000448089.2_Missense_Mutation_p.T690A|HYDIN_ENST00000393550.2_Missense_Mutation_p.T705A|HYDIN_ENST00000538248.1_Missense_Mutation_p.T717A|HYDIN_ENST00000543639.1_5'Flank	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	690			T -> A (in dbSNP:rs10744982).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGTAATTAAGAGC	0.577																																																	0													68.0	59.0	62.0					16																	71101200		2198	4300	6498	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2068A>G	16.37:g.71101200T>C	ENSP00000377197:p.Thr690Ala		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.T690A	ENST00000393567.2	37	c.2068	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	t	17.02	3.281235	0.59758	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	4.99	4.99	0.66335	.	0.000000	0.33772	U	0.004580	T	0.24774	0.0601	M	0.77103	2.36	0.38436	D	0.946567	P;P;P;P;D	0.64830	0.767;0.767;0.544;0.767;0.994	P;P;B;P;D	0.64144	0.561;0.561;0.257;0.491;0.922	T	0.16217	-1.0410	10	0.17369	T	0.5	.	13.7486	0.62890	0.0:0.0:0.0:1.0	rs10744982;rs57923786	717;707;707;690;690	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	A	690;690;690;690;690;717;707;707;705	ENSP00000377197:T690A;ENSP00000398544:T690A;ENSP00000394826:T690A;ENSP00000314736:T690A;ENSP00000444970:T717A;ENSP00000437341:T707A;ENSP00000288168:T707A;ENSP00000377181:T705A	ENSP00000288168:T707A	T	-	1	0	HYDIN	69658701	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.820000	0.62671	1.891000	0.54761	0.491000	0.48974	ACA	HYDIN	-	NULL		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71101200	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	C
HYDIN	54768	genome.wustl.edu	37	16	71163621	71163621	+	Silent	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71163621T>C	ENST00000393567.2	-	9	1299	c.1149A>G	c.(1147-1149)cgA>cgG	p.R383R	HYDIN_ENST00000541601.1_Silent_p.R400R|HYDIN_ENST00000448691.1_Silent_p.R383R|HYDIN_ENST00000288168.10_Silent_p.R400R|HYDIN_ENST00000321489.5_Silent_p.R383R|HYDIN_ENST00000448089.2_Silent_p.R383R|HYDIN_ENST00000393550.2_Silent_p.R383R|HYDIN_ENST00000538248.1_Silent_p.R410R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	383					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCGCAAAGGTTCGGGACAGAA	0.448																																																	0													58.0	58.0	58.0					16																	71163621		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1149A>G	16.37:g.71163621T>C			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.R383	ENST00000393567.2	37	c.1149	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	T			71163621	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.637	C
ID3	3399	genome.wustl.edu	37	1	23885560	23885560	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:23885560G>A	ENST00000374561.5	-	2	668				ID3_ENST00000486541.1_Intron	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein						central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|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)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CGGGAGCTCCGAGGGTCCCGC	0.597																																																	0													55.0	60.0	59.0					1																	23885560		2203	4300	6503	SO:0001627	intron_variant	3399			X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.301-50C>T	1.37:g.23885560G>A			A8K1T8|O75641	RNA	SNP	-	NULL	ENST00000374561.5	37	NULL	CCDS237.1	1																																																																																			ID3	-	-		0.597	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID3	HGNC	protein_coding	OTTHUMT00000008904.1	G	NM_002167		23885560	-1	no_errors	ENST00000463312	ensembl	human	known	70_37	rna	SNP	0.000	A
IDH3B	3420	genome.wustl.edu	37	20	2644840	2644840	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:2644840C>T	ENST00000380843.4	-	0	25				IDH3B_ENST00000488299.1_5'Flank|IDH3B_ENST00000380851.5_5'UTR|RP4-686C3.7_ENST00000418739.1_RNA	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GCCATGTTTCCCGCAGGAAGT	0.652																																																	0													18.0	21.0	20.0					20																	2644840		2203	4299	6502	SO:0001623	5_prime_UTR_variant	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.-6G>A	20.37:g.2644840C>T			B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	RNA	SNP	-	NULL	ENST00000380843.4	37	NULL	CCDS13032.1	20																																																																																			IDH3B	-	-		0.652	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	C			2644840	-1	no_errors	ENST00000462967	ensembl	human	known	70_37	rna	SNP	0.000	T
IFI44L	10964	genome.wustl.edu	37	1	79106759	79106759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:79106759C>T	ENST00000370751.5	+	7	1281	c.1102C>T	c.(1102-1104)Caa>Taa	p.Q368*	IFI44L_ENST00000342282.3_Nonsense_Mutation_p.Q110*|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	368					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGAGGTTCTTCAAGACAACTT	0.313																																																	0													151.0	156.0	154.0					1																	79106759		2203	4299	6502	SO:0001587	stop_gained	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1102C>T	1.37:g.79106759C>T	ENSP00000359787:p.Gln368*		Q86TE1|Q96B64|Q99984	Nonsense_Mutation	SNP	NULL	p.Q368*	ENST00000370751.5	37	c.1102	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.498664	0.96355	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	.	.	.	4.25	0.964	0.19655	.	0.779075	0.11949	N	0.513926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8948	8.3166	0.32104	0.0:0.3092:0.5909:0.0999	.	.	.	.	X	368;110	.	ENSP00000342833:Q110X	Q	+	1	0	IFI44L	78879347	0.706000	0.27856	0.810000	0.32431	0.191000	0.23601	0.063000	0.14410	0.381000	0.24851	0.558000	0.71614	CAA	IFI44L	-	NULL		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3	C	NM_006820		79106759	+1	no_errors	ENST00000370751	ensembl	human	known	70_37	nonsense	SNP	0.797	T
IFIT1B	439996	genome.wustl.edu	37	10	91144451	91144451	+	Missense_Mutation	SNP	G	G	C	rs141192042		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:91144451G>C	ENST00000371809.3	+	2	1461	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	461										endometrium(2)|large_intestine(3)|lung(8)	13						GCTGTGCTATGAGAGGGCTCT	0.413																																																	0													155.0	162.0	160.0					10																	91144451		2203	4300	6503	SO:0001583	missense	439996				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1381G>C	10.37:g.91144451G>C	ENSP00000360874:p.Glu461Gln		A7E245	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E461Q	ENST00000371809.3	37	c.1381	CCDS31242.1	10	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155532	0.57259	.	.	ENSG00000204010	ENST00000371809	T	0.64260	-0.09	4.13	3.23	0.37069	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.207804	0.32533	N	0.005980	T	0.71804	0.3383	M	0.71581	2.175	0.30953	N	0.724529	D	0.71674	0.998	D	0.67382	0.951	T	0.70051	-0.4978	10	0.35671	T	0.21	.	7.7711	0.29008	0.19:0.0:0.81:0.0	.	461	Q5T764	IFT1B_HUMAN	Q	461	ENSP00000360874:E461Q	ENSP00000360874:E461Q	E	+	1	0	IFIT1B	91134431	1.000000	0.71417	0.079000	0.20413	0.352000	0.29268	1.606000	0.36826	0.958000	0.37956	0.558000	0.71614	GAG	IFIT1B	-	smart_TPR_repeat		0.413	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	G	NM_001010987		91144451	+1	no_errors	ENST00000371809	ensembl	human	known	70_37	missense	SNP	0.994	C
IGBP1	3476	genome.wustl.edu	37	X	69368661	69368661	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:69368661C>G	ENST00000342206.6	+	4	1228	c.729C>G	c.(727-729)ttC>ttG	p.F243L	IGBP1_ENST00000356413.4_Missense_Mutation_p.F243L|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	243	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGAAACCCTTCATTCTCACTC	0.428																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0													65.0	54.0	58.0					X																	69368661		2203	4300	6503	SO:0001583	missense	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.729C>G	X.37:g.69368661C>G	ENSP00000363661:p.Phe243Leu		Q8TAB2	Missense_Mutation	SNP	pfam_TAP42-like	p.F243L	ENST00000342206.6	37	c.729	CCDS14396.1	X	.	.	.	.	.	.	.	.	.	.	.	19.65	3.866612	0.72065	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.62788	-0.0;-0.0	4.98	0.107	0.14544	.	0.000000	0.85682	D	0.000000	T	0.76083	0.3938	M	0.84683	2.71	0.54753	D	0.999986	D	0.76494	0.999	D	0.74023	0.982	T	0.74999	-0.3472	10	0.87932	D	0	.	8.5452	0.33417	0.0:0.5095:0.0:0.4905	.	243	P78318	IGBP1_HUMAN	L	243	ENSP00000363661:F243L;ENSP00000348784:F243L	ENSP00000363661:F243L	F	+	3	2	IGBP1	69285386	1.000000	0.71417	0.895000	0.35142	0.983000	0.72400	0.763000	0.26517	-0.023000	0.13963	0.600000	0.82982	TTC	IGBP1	-	pfam_TAP42-like		0.428	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	C			69368661	+1	no_errors	ENST00000342206	ensembl	human	known	70_37	missense	SNP	0.970	G
IGF1R	3480	genome.wustl.edu	37	15	99442728	99442728	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99442728G>A	ENST00000268035.6	+	5	1736	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	IGF1R_ENST00000558762.1_Silent_p.E375E	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	375					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGAGCTGGAGAACTTCATGG	0.478																																																	0													183.0	169.0	174.0					15																	99442728		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1125G>A	15.37:g.99442728G>A			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E375	ENST00000268035.6	37	c.1125	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L		0.478	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99442728	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	A
IGF1R	3480	genome.wustl.edu	37	15	99442734	99442734	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99442734C>A	ENST00000268035.6	+	5	1742	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	IGF1R_ENST00000558762.1_Missense_Mutation_p.F377L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	377					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGGAGAACTTCATGGGGCTCA	0.483																																																	0													184.0	171.0	175.0					15																	99442734		2197	4297	6494	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1131C>A	15.37:g.99442734C>A	ENSP00000268035:p.Phe377Leu		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F377L	ENST00000268035.6	37	c.1131	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896068	0.91962	.	.	ENSG00000140443	ENST00000268035	T	0.80304	-1.36	5.44	4.52	0.55395	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000008	D	0.85314	0.5668	M	0.83774	2.66	0.80722	D	1	D;B	0.54964	0.969;0.357	P;B	0.51453	0.67;0.214	D	0.86563	0.1842	10	0.54805	T	0.06	.	12.3132	0.54940	0.0:0.8658:0.0:0.1342	.	377;377	C9J5X1;P08069	.;IGF1R_HUMAN	L	377	ENSP00000268035:F377L	ENSP00000268035:F377L	F	+	3	2	IGF1R	97260257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.134000	0.42102	2.712000	0.92718	0.563000	0.77884	TTC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L		0.483	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99442734	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	missense	SNP	1.000	A
IGF1R	3480	genome.wustl.edu	37	15	99482579	99482579	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:99482579C>G	ENST00000268035.6	+	18	4058	c.3447C>G	c.(3445-3447)gtC>gtG	p.V1149V	IGF1R_ENST00000558762.1_Silent_p.V1148V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATTTCACAGTCAAAATCGGAG	0.502																																																	0													146.0	137.0	140.0					15																	99482579		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3447C>G	15.37:g.99482579C>G			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V1149	ENST00000268035.6	37	c.3447	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99482579	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	G
IGSF9	57549	genome.wustl.edu	37	1	159897978	159897978	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:159897978C>T	ENST00000368094.1	-	19	3397	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1051Q|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1067					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R1051Q(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCTCCCTTCGGGGCCATCT	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											78.0	72.0	74.0					1																	159897978		2198	4294	6492	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3200G>A	1.37:g.159897978C>T	ENSP00000357073:p.Arg1067Gln			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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1067Q	ENST00000368094.1	37	c.3200	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112171	0.77210	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.73152	-0.72;-0.65	3.63	3.63	0.41609	.	0.000000	0.29266	U	0.012654	T	0.63558	0.2521	N	0.24115	0.695	0.37788	D	0.927261	D;D	0.89917	0.981;1.0	P;D	0.74023	0.551;0.982	T	0.64525	-0.6387	9	.	.	.	-5.1441	12.8415	0.57805	0.0:1.0:0.0:0.0	.	1067;605	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	1051;1067;605	ENSP00000355049:R1051Q;ENSP00000357073:R1067Q	.	R	-	2	0	IGSF9	158164602	0.982000	0.34865	0.996000	0.52242	0.941000	0.58515	2.978000	0.49305	1.852000	0.53769	0.563000	0.77884	CGA	IGSF9	-	NULL		0.667	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	C	NM_020789		159897978	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	1.000	T
IKBIP	121457	genome.wustl.edu	37	12	99008094	99008094	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:99008094C>T	ENST00000342502.2	-	3	733	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	IKBIP_ENST00000393042.3_Nonsense_Mutation_p.W68*|IKBIP_ENST00000420861.1_Missense_Mutation_p.E2K	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	108					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCAATTGTTCCATGATAGCT	0.279																																																	0													35.0	35.0	35.0					12																	99008094		2203	4294	6497	SO:0001583	missense	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.322G>A	12.37:g.99008094C>T	ENSP00000343471:p.Glu108Lys		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Nonsense_Mutation	SNP	NULL	p.W68*	ENST00000342502.2	37	c.204	CCDS9067.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.75|18.75	3.689818|3.689818	0.68271|0.68271	.|.	.|.	ENSG00000166130|ENSG00000166130	ENST00000342502;ENST00000420861|ENST00000393042	T;T|.	0.44881|.	0.93;0.91|.	5.76|5.76	3.63|3.63	0.41609|0.41609	.|.	.|.	.|.	.|.	.|.	T|.	0.18002|.	0.0432|.	.|.	.|.	.|.	0.26812|0.26812	N|N	0.968989|0.968989	B|.	0.15473|.	0.013|.	B|.	0.14023|.	0.01|.	T|.	0.13388|.	-1.0511|.	8|.	0.25751|0.07030	T|T	0.34|0.85	.|.	11.0239|11.0239	0.47734|0.47734	0.0:0.7296:0.0:0.2704|0.0:0.7296:0.0:0.2704	.|.	108|.	Q70UQ0|.	IKIP_HUMAN|.	K|X	108;2|68	ENSP00000343471:E108K;ENSP00000398023:E2K|.	ENSP00000343471:E108K|ENSP00000376762:W68X	E|W	-|-	1|3	0|0	IKBIP|IKBIP	97532225|97532225	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.807000|0.807000	0.45602|0.45602	1.542000|1.542000	0.36137|0.36137	1.448000|1.448000	0.47680|0.47680	-0.140000|-0.140000	0.14226|0.14226	GAA|TGG	IKBIP	-	NULL		0.279	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99008094	-1	no_errors	ENST00000393042	ensembl	human	known	70_37	nonsense	SNP	0.947	T
IKBIP	121457	genome.wustl.edu	37	12	99008106	99008106	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:99008106C>T	ENST00000342502.2	-	3	721	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	IKBIP_ENST00000393042.3_Silent_p.L64L|IKBIP_ENST00000420861.1_5'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	104					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATGATAGCTTCAGATTTCTGC	0.264																																																	0													28.0	29.0	29.0					12																	99008106		2201	4291	6492	SO:0001583	missense	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.310G>A	12.37:g.99008106C>T	ENSP00000343471:p.Glu104Lys		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E104K	ENST00000342502.2	37	c.310	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574060	0.45902	.	.	ENSG00000166130	ENST00000342502	T	0.50813	0.73	5.76	3.9	0.45041	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.18561	0.022	T	0.12708	-1.0537	8	0.34782	T	0.22	.	7.5366	0.27714	0.13:0.6885:0.1133:0.0682	.	104	Q70UQ0	IKIP_HUMAN	K	104	ENSP00000343471:E104K	ENSP00000343471:E104K	E	-	1	0	IKBIP	97532237	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.703000	0.25646	1.409000	0.46915	0.655000	0.94253	GAA	IKBIP	-	NULL		0.264	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99008106	-1	no_errors	ENST00000342502	ensembl	human	known	70_37	missense	SNP	0.938	T
IL1RAP	3556	genome.wustl.edu	37	3	190374011	190374011	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:190374011C>T	ENST00000317757.3	+	12	1885	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	IL1RAP_ENST00000443369.2_Missense_Mutation_p.S560F|RP11-268E23.2_ENST00000609508.1_lincRNA	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	562					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAGAGCTGCTCTTCCCAGTCT	0.512																																																	0													34.0	34.0	34.0					3																	190374011		692	1591	2283	SO:0001583	missense	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1679C>T	3.37:g.190374011C>T	ENSP00000314807:p.Ser560Phe		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.S560F	ENST00000317757.3	37	c.1679	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841542	0.71488	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.01629	4.72;4.72	5.51	5.51	0.81932	.	.	.	.	.	T	0.06781	0.0173	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.56860	-0.7909	9	0.10111	T	0.7	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	560	Q9NPH3-5	.	F	560	ENSP00000408893:S560F;ENSP00000314807:S560F	ENSP00000314807:S560F	S	+	2	0	IL1RAP	191856705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.175000	0.71949	2.577000	0.86979	0.561000	0.74099	TCT	IL1RAP	-	NULL		0.512	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374011	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	missense	SNP	1.000	T
IL4R	3566	genome.wustl.edu	37	16	27374353	27374353	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:27374353G>C	ENST00000395762.2	+	11	1939	c.1680G>C	c.(1678-1680)caG>caC	p.Q560H	IL4R_ENST00000170630.2_Missense_Mutation_p.Q560H|IL4R_ENST00000543915.2_Missense_Mutation_p.Q560H|IL4R_ENST00000380922.3_Missense_Mutation_p.Q545H	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	560	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGTCCTCCAGCATGGGGCAG	0.647																																																	0													28.0	33.0	31.0					16																	27374353		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1680G>C	16.37:g.27374353G>C	ENSP00000379111:p.Gln560His		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q560H	ENST00000395762.2	37	c.1680	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157067	0.38119	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.16	2.97	0.34412	.	3.706210	0.00714	N	0.000853	T	0.33962	0.0881	M	0.64997	1.995	0.28743	N	0.901877	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68192	0.956;0.956;0.956	T	0.02844	-1.1103	10	0.72032	D	0.01	-30.0301	4.8658	0.13607	0.3077:0.0:0.6923:0.0	.	545;560;560	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	H	560;560;545;560	ENSP00000379111:Q560H;ENSP00000441667:Q560H;ENSP00000370309:Q545H;ENSP00000170630:Q560H	ENSP00000170630:Q560H	Q	+	3	2	IL4R	27281854	0.975000	0.34042	0.968000	0.41197	0.055000	0.15305	1.473000	0.35387	1.189000	0.43028	0.555000	0.69702	CAG	IL4R	-	NULL		0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	G			27374353	+1	no_errors	ENST00000170630	ensembl	human	known	70_37	missense	SNP	0.917	C
IMPA2	3613	genome.wustl.edu	37	18	11999180	11999180	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:11999180C>T	ENST00000269159.3	+	2	466	c.224C>T	c.(223-225)tCa>tTa	p.S75L	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	75					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AGGTTTCCTTCACACAGGTAG	0.488																																																	0													107.0	112.0	110.0					18																	11999180		2203	4300	6503	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.224C>T	18.37:g.11999180C>T	ENSP00000269159:p.Ser75Leu		B0YJ29|Q9UJT3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.S75L	ENST00000269159.3	37	c.224	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032972	0.54790	.	.	ENSG00000141401	ENST00000269159;ENST00000383376	T;T	0.46819	0.86;0.86	5.38	5.38	0.77491	.	0.376195	0.25391	N	0.031017	T	0.51975	0.1706	M	0.79011	2.435	0.80722	D	1	B	0.22983	0.078	B	0.29077	0.098	T	0.54384	-0.8302	10	0.56958	D	0.05	-13.565	12.1658	0.54129	0.0:0.9208:0.0:0.0792	.	75	O14732	IMPA2_HUMAN	L	75	ENSP00000269159:S75L;ENSP00000372867:S75L	ENSP00000269159:S75L	S	+	2	0	IMPA2	11989180	0.996000	0.38824	0.996000	0.52242	0.899000	0.52679	3.650000	0.54424	2.529000	0.85273	0.655000	0.94253	TCA	IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase		0.488	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	C			11999180	+1	no_errors	ENST00000269159	ensembl	human	known	70_37	missense	SNP	0.990	T
INPP4A	3631	genome.wustl.edu	37	2	99162457	99162457	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99162457G>C	ENST00000523221.1	+	10	975	c.975G>C	c.(973-975)ttG>ttC	p.L325F	INPP4A_ENST00000074304.5_Missense_Mutation_p.L325F|INPP4A_ENST00000409851.3_Missense_Mutation_p.L325F|INPP4A_ENST00000545415.1_Missense_Mutation_p.L325F|INPP4A_ENST00000409016.4_Missense_Mutation_p.L325F|INPP4A_ENST00000409540.3_Missense_Mutation_p.L325F|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	325					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGCAGTTTGAAAGCAGATA	0.408																																																	0													79.0	73.0	75.0					2																	99162457		1866	4111	5977	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.975G>C	2.37:g.99162457G>C	ENSP00000427722:p.Leu325Phe		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L325F	ENST00000523221.1	37	c.975	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858659	0.71834	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.48019	-0.9071	10	0.52906	T	0.07	-15.1054	9.6021	0.39609	0.1564:0.0:0.8436:0.0	.	325;325;325;325	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	F	325	ENSP00000386704:L325F;ENSP00000386777:L325F;ENSP00000074304:L325F;ENSP00000442149:L325F;ENSP00000387294:L325F;ENSP00000427722:L325F	ENSP00000074304:L325F	L	+	3	2	INPP4A	98528889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.454000	0.60068	1.544000	0.49359	0.655000	0.94253	TTG	INPP4A	-	NULL		0.408	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	G	NM_001566		99162457	+1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	C
INPP4B	8821	genome.wustl.edu	37	4	143003324	143003324	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:143003324C>T	ENST00000513000.1	-	26	2935	c.2502G>A	c.(2500-2502)ctG>ctA	p.L834L	INPP4B_ENST00000508116.1_Silent_p.L834L|INPP4B_ENST00000262992.4_Silent_p.L834L|INPP4B_ENST00000509777.1_Silent_p.L834L|INPP4B_ENST00000308502.4_Silent_p.L834L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	834					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAATACCATTCAGTTTGCGGC	0.408																																																	0													146.0	129.0	135.0					4																	143003324		2203	4300	6503	SO:0001819	synonymous_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2502G>A	4.37:g.143003324C>T			Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L834	ENST00000513000.1	37	c.2502	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	c	9.386	1.074149	0.20227	.	.	ENSG00000109452	ENST00000542702	.	.	.	5.7	-3.71	0.04424	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59627	-0.7419	5	0.87932	D	0	.	3.7022	0.08387	0.0949:0.3269:0.3553:0.2229	.	.	.	.	K	649	.	ENSP00000446046:E649K	E	-	1	0	INPP4B	143222774	0.065000	0.20965	0.995000	0.50966	0.989000	0.77384	-0.747000	0.04823	-0.281000	0.09141	-0.381000	0.06696	GAA	INPP4B	-	NULL		0.408	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	C	NM_003866		143003324	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	silent	SNP	0.962	T
INTS1	26173	genome.wustl.edu	37	7	1512808	1512808	+	Silent	SNP	G	G	A	rs138397380	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:1512808G>A	ENST00000404767.3	-	43	6055	c.5970C>T	c.(5968-5970)ttC>ttT	p.F1990F	INTS1_ENST00000389470.4_Silent_p.F2194F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1990					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.F2194F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACTGTTGTCGAAGGACAGGT	0.627																																																	1	Substitution - coding silent(1)	lung(1)											46.0	50.0	48.0					7																	1512808		2116	4231	6347	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5970C>T	7.37:g.1512808G>A			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.F2194	ENST00000404767.3	37	c.6582	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1512808	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	0.942	A
INTS1	26173	genome.wustl.edu	37	7	1522299	1522299	+	Missense_Mutation	SNP	C	C	T	rs368845872		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:1522299C>T	ENST00000404767.3	-	27	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K	INTS1_ENST00000389470.4_Missense_Mutation_p.E1358K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1196					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGCTTCTCCTCCGGAAACCAG	0.637																																																	0									LYS/GLU	2,4184		0,2,2091	49.0	59.0	56.0		3586	4.7	0.9	7		56	0,8438		0,0,4219	no	missense	INTS1	NM_001080453.2	56	0,2,6310	TT,TC,CC		0.0,0.0478,0.0158	benign	1196/2191	1522299	2,12622	2093	4219	6312	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3586G>A	7.37:g.1522299C>T	ENSP00000385722:p.Glu1196Lys		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.E1358K	ENST00000404767.3	37	c.4072	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030772	0.35797	4.78E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.46819	0.86;0.86	4.67	4.67	0.58626	.	0.111978	0.32703	U	0.005747	T	0.39118	0.1066	L	0.31926	0.97	0.51767	D	0.999937	B	0.02656	0.0	B	0.04013	0.001	T	0.15723	-1.0427	10	0.27082	T	0.32	.	17.5786	0.87958	0.0:1.0:0.0:0.0	.	1196	Q8N201	INT1_HUMAN	K	1196;1358	ENSP00000385722:E1196K;ENSP00000374121:E1358K	ENSP00000374121:E1358K	E	-	1	0	INTS1	1488825	1.000000	0.71417	0.947000	0.38551	0.469000	0.32828	7.547000	0.82146	2.154000	0.67381	0.561000	0.74099	GAG	INTS1	-	NULL		0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1522299	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	1.000	T
INTS3	65123	genome.wustl.edu	37	1	153736609	153736609	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153736609G>C	ENST00000318967.2	+	18	2405	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	INTS3_ENST00000435409.2_Missense_Mutation_p.E613Q|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.E407Q|INTS3_ENST00000456435.1_Missense_Mutation_p.E407Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	614					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTGACTCGGAGCAGCTGTC	0.562																																																	0													136.0	127.0	130.0					1																	153736609		2203	4300	6503	SO:0001583	missense	65123			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1837G>C	1.37:g.153736609G>C	ENSP00000318641:p.Glu613Gln		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.E613Q	ENST00000318967.2	37	c.1837	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866958	0.72065	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.43152	1.355	0.53688	D	0.999972	D;D;D	0.67145	0.996;0.981;0.989	D;D;D	0.78314	0.991;0.932;0.969	T	0.58132	-0.7690	9	0.39692	T	0.17	.	13.3443	0.60564	0.0:0.0:1.0:0.0	.	407;614;613	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	Q	613;407;613;407	.	ENSP00000318641:E613Q	E	+	1	0	INTS3	152003233	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.369000	0.79578	2.526000	0.85167	0.462000	0.41574	GAG	INTS3	-	NULL		0.562	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	G	NM_023015		153736609	+1	no_errors	ENST00000318967	ensembl	human	known	70_37	missense	SNP	1.000	C
INTS6	26512	genome.wustl.edu	37	13	51943132	51943132	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:51943132C>T	ENST00000311234.4	-	16	2891	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	INTS6_ENST00000425000.1_Missense_Mutation_p.E375K|INTS6_ENST00000490542.1_Missense_Mutation_p.E491K|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.E794K|INTS6_ENST00000497989.1_Missense_Mutation_p.E629K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	807					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTATTGACCTCTTCATGGCTT	0.383																																																	0													152.0	141.0	144.0					13																	51943132		2203	4300	6503	SO:0001583	missense	26512			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2419G>A	13.37:g.51943132C>T	ENSP00000310260:p.Glu807Lys		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.E807K	ENST00000311234.4	37	c.2419	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358422	0.24598	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.22	5.22	0.72569	.	0.255861	0.45126	D	0.000381	T	0.55000	0.1893	L	0.47716	1.5	0.80722	D	1	B	0.16396	0.017	B	0.15484	0.013	T	0.52155	-0.8613	9	0.11485	T	0.65	-12.3447	17.7763	0.88510	0.0:1.0:0.0:0.0	.	807	Q9UL03	INT6_HUMAN	K	807;794;629;375;491	.	ENSP00000310260:E807K	E	-	1	0	INTS6	50841133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.267000	0.65530	2.420000	0.82092	0.557000	0.71058	GAG	INTS6	-	NULL		0.383	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	C	NM_012141		51943132	-1	no_errors	ENST00000311234	ensembl	human	known	70_37	missense	SNP	1.000	T
IPO4	79711	genome.wustl.edu	37	14	24650921	24650921	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:24650921G>A	ENST00000354464.6	-	27	3112	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	979					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCACCTGGGGCTCTGGTTT	0.632																																																	0													74.0	82.0	80.0					14																	24650921		2065	4204	6269	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2936C>T	14.37:g.24650921G>A	ENSP00000346453:p.Pro979Leu		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.P979L	ENST00000354464.6	37	c.2936	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340632	0.41498	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.68479	-0.33	5.44	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);	0.368899	0.28301	N	0.015847	T	0.58652	0.2137	L	0.40543	1.245	0.39656	D	0.970542	B;B	0.32101	0.294;0.356	B;B	0.36922	0.119;0.236	T	0.57825	-0.7744	10	0.33940	T	0.23	-24.8914	11.6425	0.51242	0.0:0.0:0.8241:0.1759	.	979;979	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	L	979;655	ENSP00000346453:P979L	ENSP00000346453:P979L	P	-	2	0	IPO4	23720761	0.911000	0.30947	1.000000	0.80357	0.658000	0.38924	0.913000	0.28611	2.837000	0.97791	0.655000	0.94253	CCC	IPO4	-	superfamily_ARM-type_fold		0.632	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	G	NM_024658		24650921	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	0.622	A
IPO7	10527	genome.wustl.edu	37	11	9431474	9431474	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:9431474G>C	ENST00000379719.3	+	4	462		c.e4-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGGCTTCCAGGGTACAGCTT	0.363																																																	0													143.0	125.0	131.0					11																	9431474		2201	4296	6497	SO:0001630	splice_region_variant	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.321-1G>C	11.37:g.9431474G>C			A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	-	e4-1	ENST00000379719.3	37	c.321-1	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046167	0.75846	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3378	0.94326	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9388050	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.832000	0.99423	2.547000	0.85894	0.650000	0.86243	.	IPO7	-	-		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391	Intron	9431474	+1	no_errors	ENST00000379719	ensembl	human	known	70_37	splice_site	SNP	1.000	C
IPO7	10527	genome.wustl.edu	37	11	9466668	9466668	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:9466668G>T	ENST00000379719.3	+	25	3186	c.3044G>T	c.(3043-3045)gGa>gTa	p.G1015V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1015					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCATGGAGGATACAAA	0.378																																																	0													72.0	73.0	73.0					11																	9466668		2201	4294	6495	SO:0001583	missense	10527			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3044G>T	11.37:g.9466668G>T	ENSP00000369042:p.Gly1015Val		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.G1015V	ENST00000379719.3	37	c.3044	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497889	0.44455	.	.	ENSG00000205339	ENST00000379719	T	0.33438	1.41	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	M	0.77313	2.365	0.80722	D	1	P	0.35411	0.5	B	0.32980	0.156	T	0.44345	-0.9334	10	0.72032	D	0.01	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1015	O95373	IPO7_HUMAN	V	1015	ENSP00000369042:G1015V	ENSP00000369042:G1015V	G	+	2	0	IPO7	9423244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.649000	0.89929	0.563000	0.77884	GGA	IPO7	-	NULL		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9466668	+1	no_errors	ENST00000379719	ensembl	human	known	70_37	missense	SNP	1.000	T
IQCF6	440956	genome.wustl.edu	37	3	51812702	51812702	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:51812702G>C	ENST00000398780.3	-	1	307	c.261C>G	c.(259-261)atC>atG	p.I87M		NM_001143833.3	NP_001137305.2	A8MYZ5	IQCF6_HUMAN	IQ motif containing F6	87										breast(1)	1						AGTGGCCCCGGATCAGGCCTC	0.632																																																	0													44.0	46.0	45.0					3																	51812702		692	1591	2283	SO:0001583	missense	440956				CCDS54590.1	3p21.1	2008-10-16			ENSG00000214686	ENSG00000214686			35158	protein-coding gene	gene with protein product							Standard	NM_001143833		Approved		uc021wyv.1	A8MYZ5		ENST00000398780.3:c.261C>G	3.37:g.51812702G>C	ENSP00000381760:p.Ile87Met			Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.I87M	ENST00000398780.3	37	c.261	CCDS54590.1	3	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101847	0.37048	.	.	ENSG00000214686	ENST00000398780	T	0.48522	0.81	4.58	3.63	0.41609	.	.	.	.	.	T	0.41789	0.1174	L	0.49778	1.585	0.25290	N	0.989366	B	0.13145	0.007	B	0.08055	0.003	T	0.26573	-1.0099	9	0.54805	T	0.06	-3.1663	10.0904	0.42443	0.0:0.2039:0.7961:0.0	.	110	A8MYZ5	IQCF6_HUMAN	M	87	ENSP00000381760:I87M	ENSP00000381760:I87M	I	-	3	3	IQCF6	51787742	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.390000	0.44416	2.564000	0.86499	0.655000	0.94253	ATC	IQCF6	-	NULL		0.632	IQCF6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF6	HGNC	protein_coding		G	XM_496643		51812702	-1	no_errors	ENST00000398780	ensembl	human	known	70_37	missense	SNP	0.997	C
IRF7	3665	genome.wustl.edu	37	11	614216	614216	+	Missense_Mutation	SNP	C	C	G	rs375250292		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:614216C>G	ENST00000397574.2	-	6	1006	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Missense_Mutation_p.E226Q|IRF7_ENST00000525445.1_Missense_Mutation_p.E107Q|IRF7_ENST00000397570.1_Missense_Mutation_p.E213Q|IRF7_ENST00000348655.6_Missense_Mutation_p.E213Q|IRF7_ENST00000397566.1_Missense_Mutation_p.E226Q	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	213					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTTGTCCCTCTCCAGGAGCC	0.687																																																	0									GLN/GLU,GLN/GLU,GLN/GLU	0,4404		0,0,2202	43.0	44.0	44.0		637,637,676	1.2	0.9	11		44	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	IRF7	NM_001572.3,NM_004029.2,NM_004031.2	29,29,29	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	benign,benign,benign	213/504,213/475,226/517	614216	1,12999	2202	4298	6500	SO:0001583	missense	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.637G>C	11.37:g.614216C>G	ENSP00000380704:p.Glu213Gln		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.E226Q	ENST00000397574.2	37	c.676	CCDS7703.1	11	.	.	.	.	.	.	.	.	.	.	c	11.82	1.751204	0.31046	0.0	1.16E-4	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.95885	-2.87;-3.83;-3.83;-3.81;-3.84;-3.81	3.15	1.21	0.21127	.	34.659500	0.00166	N	0.000000	D	0.88243	0.6384	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21606	0.035;0.007;0.005;0.058	B;B;B;B	0.16289	0.007;0.015;0.004;0.015	T	0.75187	-0.3406	10	0.12430	T	0.62	-5.496	7.066	0.25151	0.0:0.7675:0.0:0.2325	.	107;213;213;226	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	Q	107;213;213;226;213;226	ENSP00000434009:E107Q;ENSP00000331803:E213Q;ENSP00000380700:E213Q;ENSP00000380697:E226Q;ENSP00000380704:E213Q;ENSP00000329411:E226Q	ENSP00000329411:E226Q	E	-	1	0	IRF7	604216	0.987000	0.35691	0.914000	0.36105	0.415000	0.31203	0.473000	0.22132	0.338000	0.23692	0.556000	0.70494	GAG	IRF7	-	NULL		0.687	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	C	NM_001572		614216	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	missense	SNP	0.970	G
ITGA2	3673	genome.wustl.edu	37	5	52386428	52386428	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:52386428G>A	ENST00000296585.5	+	30	3688	c.3545G>A	c.(3544-3546)tGa>tAa	p.*1182*	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	0					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTCAGTAGCTGAACCAGCAGA	0.418																																																	0													54.0	56.0	55.0					5																	52386428		2203	4300	6503	SO:0001819	synonymous_variant	3673				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3545G>A	5.37:g.52386428G>A			Q14595	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.*1182	ENST00000296585.5	37	c.3545	CCDS3957.1	5																																																																																			ITGA2	-	NULL		0.418	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	G	NM_002203		52386428	+1	no_errors	ENST00000296585	ensembl	human	known	70_37	silent	SNP	0.999	A
ITGA7	3679	genome.wustl.edu	37	12	56090710	56090710	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56090710G>A	ENST00000555728.1	-	13	1870	c.1842C>T	c.(1840-1842)gtC>gtT	p.V614V	ITGA7_ENST00000452168.2_Silent_p.V477V|ITGA7_ENST00000394229.2_Silent_p.V570V|ITGA7_ENST00000553804.1_Silent_p.V574V|ITGA7_ENST00000394230.2_Silent_p.V574V|ITGA7_ENST00000347027.6_Silent_p.V564V|ITGA7_ENST00000257879.6_Silent_p.V570V|ITGA7_ENST00000257880.7_Silent_p.V614V			Q13683	ITA7_HUMAN	integrin, alpha 7	614					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGTCTCCACAGACTCGGTCAT	0.587																																																	0													81.0	72.0	75.0					12																	56090710		2203	4300	6503	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1842C>T	12.37:g.56090710G>A			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V614	ENST00000555728.1	37	c.1842		12																																																																																			ITGA7	-	pfam_Integrin_alpha-2		0.587	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56090710	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	silent	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15617594	15617594	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:15617594C>T	ENST00000378076.3	-	24	2726		c.e24-1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTGTGACACTCTGAAACATGA	0.438																																																	0													105.0	93.0	97.0					10																	15617594		2203	4300	6503	SO:0001630	splice_region_variant	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2373-1G>A	10.37:g.15617594C>T			B0YJ31|Q5VX94	Splice_Site	SNP	-	e24-1	ENST00000378076.3	37	c.2373-1	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040496	0.35989	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5323	0.90997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15657600	1.000000	0.71417	0.963000	0.40424	0.093000	0.18481	6.264000	0.72527	2.741000	0.93983	0.650000	0.86243	.	ITGA8	-	-		0.438	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	C	NM_003638	Intron	15617594	-1	no_errors	ENST00000378076	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4847939	4847939	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:4847939C>T	ENST00000443694.2	+	52	7215	c.7215C>T	c.(7213-7215)ttC>ttT	p.F2405F	ITPR1_ENST00000302640.8_Silent_p.F2405F|ITPR1_ENST00000354582.6_Silent_p.F2405F|ITPR1_ENST00000357086.4_Silent_p.F2372F|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.F2357F|ITPR1_ENST00000544951.1_Silent_p.F383F|ITPR1_ENST00000423119.2_Silent_p.F2372F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2420					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATGAATTCTTCTACAGTCTGC	0.458																																																	0													147.0	135.0	139.0					3																	4847939		1928	4148	6076	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7215C>T	3.37:g.4847939C>T			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F2405	ENST00000443694.2	37	c.7215	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ion_trans_dom		0.458	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	C	NM_002222		4847939	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	1.000	T
JAKMIP3	282973	genome.wustl.edu	37	10	133976803	133976803	+	Missense_Mutation	SNP	G	G	C	rs147886594		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:133976803G>C	ENST00000298622.4	+	19	2443	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	769						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGAGGAGCGCGAGAAGCTCAA	0.657																																																	0													63.0	46.0	51.0					10																	133976803		2198	4294	6492	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2305G>C	10.37:g.133976803G>C	ENSP00000298622:p.Glu769Gln		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E769Q	ENST00000298622.4	37	c.2305	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562416	0.65538	.	.	ENSG00000188385	ENST00000298622	T	0.27557	1.66	3.77	3.77	0.43336	.	.	.	.	.	T	0.32941	0.0846	L	0.52573	1.65	0.30730	N	0.747325	P;B	0.47841	0.901;0.036	B;B	0.42495	0.389;0.041	T	0.37798	-0.9690	9	0.48119	T	0.1	.	16.1886	0.81971	0.0:0.0:1.0:0.0	.	206;769	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	Q	769	ENSP00000298622:E769Q	ENSP00000298622:E769Q	E	+	1	0	JAKMIP3	133826793	1.000000	0.71417	0.924000	0.36721	0.608000	0.37181	4.831000	0.62752	2.102000	0.63906	0.460000	0.39030	GAG	JAKMIP3	-	NULL		0.657	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133976803	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	0.992	C
JMJD6	23210	genome.wustl.edu	37	17	74721712	74721712	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74721712C>T	ENST00000397625.4	-	2	469	c.355G>A	c.(355-357)Gag>Aag	p.E119K	JMJD6_ENST00000445478.2_Missense_Mutation_p.E119K|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.E119K|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	119					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCATGTACTCGATGTAGTAT	0.433																																																	0													190.0	183.0	186.0					17																	74721712		1971	4167	6138	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.355G>A	17.37:g.74721712C>T	ENSP00000380750:p.Glu119Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E119K	ENST00000397625.4	37	c.355	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794687	0.70452	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72051	-0.62;-0.62	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.54965	1.715	0.80722	D	1	B;B;B	0.29188	0.072;0.112;0.236	B;B;B	0.17433	0.012;0.011;0.018	T	0.63932	-0.6525	10	0.37606	T	0.19	-1.2839	19.7472	0.96257	0.0:1.0:0.0:0.0	.	119;119;119	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	119	ENSP00000394085:E119K;ENSP00000380750:E119K	ENSP00000302916:E119K	E	-	1	0	JMJD6	72233307	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.806000	0.86020	2.653000	0.90120	0.561000	0.74099	GAG	JMJD6	-	NULL		0.433	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74721712	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T
JMJD6	23210	genome.wustl.edu	37	17	74722527	74722527	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74722527C>T	ENST00000397625.4	-	1	145	c.31G>A	c.(31-33)Gag>Aag	p.E11K	JMJD6_ENST00000445478.2_Missense_Mutation_p.E11K|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.E11K|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	11					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTGGCCTCGCGGATGCGC	0.662																																																	0													31.0	37.0	35.0					17																	74722527		2034	4179	6213	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.31G>A	17.37:g.74722527C>T	ENSP00000380750:p.Glu11Lys		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E11K	ENST00000397625.4	37	c.31	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581168	0.46006	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	4.67	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.49256	1.55	0.80722	D	1	B;B;P	0.34780	0.151;0.184;0.468	B;B;B	0.21917	0.01;0.002;0.037	T	0.48352	-0.9043	9	0.42905	T	0.14	-1.0089	12.7816	0.57480	0.0:0.9205:0.0:0.0795	.	11;11;11	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	K	11	.	ENSP00000302916:E11K	E	-	1	0	JMJD6	72234122	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.149000	0.77396	1.199000	0.43173	-0.339000	0.08088	GAG	JMJD6	-	NULL		0.662	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74722527	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124376306	124376306	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:124376306G>C	ENST00000291478.5	+	7	943	c.780G>C	c.(778-780)aaG>aaC	p.K260N	KALRN_ENST00000360013.3_Missense_Mutation_p.K1957N|KALRN_ENST00000459915.1_Missense_Mutation_p.K49N|KALRN_ENST00000428018.2_Missense_Mutation_p.K228N|KALRN_ENST00000393496.1_Missense_Mutation_p.K298N	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1956					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						GCTTCATGAAGAGAATAGAAG	0.458																																																	0													104.0	93.0	97.0					3																	124376306		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	ENST00000291478.5:c.780G>C	3.37:g.124376306G>C	ENSP00000291478:p.Lys260Asn		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.K1957N	ENST00000291478.5	37	c.5871	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.29|16.29	3.081324|3.081324	0.55753|0.55753	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915|ENST00000354186	T;T;T;T;T|.	0.63580|.	-0.05;-0.05;-0.05;-0.05;-0.05|.	5.08|5.08	4.2|4.2	0.49525|0.49525	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43765|0.43765	0.1262|0.1262	L|L	0.42487|0.42487	1.325|1.325	0.33589|0.33589	D|D	0.60085|0.60085	B;D;D;P|.	0.65815|.	0.249;0.995;0.989;0.631|.	B;D;P;P|.	0.65773|.	0.348;0.938;0.827;0.486|.	T|T	0.54410|0.54410	-0.8298|-0.8298	10|5	0.62326|.	D|.	0.03|.	.|.	7.0001|7.0001	0.24805|0.24805	0.1529:0.1433:0.7038:0.0|0.1529:0.1433:0.7038:0.0	.|.	49;260;298;1956|.	E7EUZ8;C9JQ37;O60229-5;O60229|.	.;.;.;KALRN_HUMAN|.	N|T	1957;298;260;228;49|1926	ENSP00000353109:K1957N;ENSP00000377134:K298N;ENSP00000291478:K260N;ENSP00000402419:K228N;ENSP00000420318:K49N|.	ENSP00000291478:K260N|.	K|R	+|+	3|2	2|0	KALRN|KALRN	125858996|125858996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.666000|2.666000	0.46799|0.46799	1.335000|1.335000	0.45486|0.45486	0.655000|0.655000	0.94253|0.94253	AAG|AGA	KALRN	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.458	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	G	NM_003947		124376306	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	C
KAT5	10524	genome.wustl.edu	37	11	65482041	65482041	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65482041G>A	ENST00000377046.3	+	8	939	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KAT5_ENST00000341318.4_Missense_Mutation_p.D256N|KAT5_ENST00000352980.4_Missense_Mutation_p.D171N|KAT5_ENST00000530446.1_Missense_Mutation_p.D204N|KAT5_ENST00000534650.1_Missense_Mutation_p.D12N	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	223					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCGAAGCCACGACGACATCGT	0.592																																																	0													117.0	92.0	100.0					11																	65482041		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.667G>A	11.37:g.65482041G>A	ENSP00000366245:p.Asp223Asn		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.D256N	ENST00000377046.3	37	c.766	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764825	0.69878	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534104;ENST00000528198;ENST00000531880;ENST00000534650;ENST00000534681	T;T;T;T;T;T	0.49139	0.94;0.94;0.92;0.94;0.8;0.79	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.48218	1.51	0.80722	D	1	P;D;P;P	0.53745	0.646;0.962;0.87;0.879	B;P;B;B	0.45406	0.116;0.479;0.232;0.177	T	0.30238	-0.9985	10	0.31617	T	0.26	-27.098	13.2997	0.60317	0.0:0.0:1.0:0.0	.	204;256;171;223	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	N	223;171;256;204;12;165;217;12;12	ENSP00000366245:D223N;ENSP00000344955:D171N;ENSP00000340330:D256N;ENSP00000434765:D204N;ENSP00000436000:D165N;ENSP00000436012:D217N	ENSP00000340330:D256N	D	+	1	0	KAT5	65238617	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.029000	0.93718	2.498000	0.84270	0.462000	0.41574	GAC	KAT5	-	NULL		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65482041	+1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	A
KAT5	10524	genome.wustl.edu	37	11	65482375	65482375	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65482375G>C	ENST00000377046.3	+	9	1196	c.924G>C	c.(922-924)aaG>aaC	p.K308N	KAT5_ENST00000341318.4_Missense_Mutation_p.K341N|KAT5_ENST00000352980.4_Missense_Mutation_p.K256N|KAT5_ENST00000530446.1_Missense_Mutation_p.K289N|KAT5_ENST00000534650.1_Missense_Mutation_p.K97N	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	308	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						ATGGACGTAAGAACAAGGTTA	0.507																																																	0													102.0	83.0	89.0					11																	65482375		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.924G>C	11.37:g.65482375G>C	ENSP00000366245:p.Lys308Asn		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.K341N	ENST00000377046.3	37	c.1023	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315789	0.60524	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50548	0.76;0.78;0.74;0.77	5.1	-2.0	0.07433	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.80764	0.994;0.989;0.989;0.991	T	0.63879	-0.6537	10	0.66056	D	0.02	-18.7829	10.8126	0.46555	0.6771:0.0:0.3229:0.0	.	289;341;256;308	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	N	308;256;341;289;97	ENSP00000366245:K308N;ENSP00000344955:K256N;ENSP00000340330:K341N;ENSP00000434765:K289N	ENSP00000340330:K341N	K	+	3	2	KAT5	65238951	1.000000	0.71417	0.800000	0.32199	0.895000	0.52256	0.720000	0.25896	-0.603000	0.05767	-0.258000	0.10820	AAG	KAT5	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.507	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	G	NM_006388		65482375	+1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	0.981	C
KAT7	11143	genome.wustl.edu	37	17	47866104	47866104	+	5'UTR	SNP	G	G	C	rs111327802		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:47866104G>C	ENST00000259021.4	+	0	188				KAT7_ENST00000435742.2_5'Flank|KAT7_ENST00000424009.2_5'UTR|KAT7_ENST00000510819.1_5'UTR|KAT7_ENST00000503935.2_5'Flank|KAT7_ENST00000509773.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'Flank|KAT7_ENST00000454930.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7						chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GATTGGGACTGATACAGAGGC	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13732	0.0		0.0	False		,,,				2504	0.0																0													18.0	24.0	22.0					17																	47866104		692	1590	2282	SO:0001623	5_prime_UTR_variant	11143			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.-93G>C	17.37:g.47866104G>C			B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	RNA	SNP	-	NULL	ENST00000259021.4	37	NULL	CCDS11554.1	17																																																																																			KAT7	-	-		0.692	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	G	NM_007067		47866104	+1	no_errors	ENST00000509124	ensembl	human	known	70_37	rna	SNP	0.993	C
KATNAL1	84056	genome.wustl.edu	37	13	30805526	30805526	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:30805526G>A	ENST00000380615.3	-	7	977	c.810C>T	c.(808-810)ttC>ttT	p.F270F	KATNAL1_ENST00000380617.3_Silent_p.F270F	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ACGAAACGTTGAAGAATGTTG	0.413																																																	0													113.0	97.0	102.0					13																	30805526		2203	4300	6503	SO:0001819	synonymous_variant	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.810C>T	13.37:g.30805526G>A				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.F270	ENST00000380615.3	37	c.810	CCDS31956.1	13																																																																																			KATNAL1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.413	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	G	NM_032116		30805526	-1	no_errors	ENST00000380615	ensembl	human	known	70_37	silent	SNP	1.000	A
KATNAL1	84056	genome.wustl.edu	37	13	30829630	30829630	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:30829630G>C	ENST00000380615.3	-	4	613	c.446C>G	c.(445-447)tCt>tGt	p.S149C	KATNAL1_ENST00000380617.3_Missense_Mutation_p.S149C	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CCTACTTGTAGAAGGCTTTTC	0.488																																																	0													337.0	328.0	331.0					13																	30829630		2203	4300	6503	SO:0001583	missense	84056			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.446C>G	13.37:g.30829630G>C	ENSP00000369989:p.Ser149Cys			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.S149C	ENST00000380615.3	37	c.446	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161590	0.38119	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94613	-3.47;-3.47	5.05	5.05	0.67936	.	0.734859	0.13750	N	0.365351	D	0.91666	0.7366	N	0.14661	0.345	0.23309	N	0.997936	B	0.20261	0.043	B	0.35073	0.195	D	0.84937	0.0863	10	0.62326	D	0.03	-0.2906	18.4094	0.90546	0.0:0.0:1.0:0.0	.	149	Q9BW62	KATL1_HUMAN	C	149	ENSP00000369989:S149C;ENSP00000369991:S149C	ENSP00000369989:S149C	S	-	2	0	KATNAL1	29727630	0.071000	0.21146	0.069000	0.20011	0.701000	0.40568	2.882000	0.48546	2.340000	0.79590	0.650000	0.86243	TCT	KATNAL1	-	NULL		0.488	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	G	NM_032116		30829630	-1	no_errors	ENST00000380615	ensembl	human	known	70_37	missense	SNP	0.351	C
KBTBD7	84078	genome.wustl.edu	37	13	41766989	41766989	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:41766989G>A	ENST00000379483.3	-	1	1713	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	469										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGAGGGACAGGAGCCACCAAT	0.448																																																	0													85.0	78.0	80.0					13																	41766989		2203	4300	6503	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1405C>T	13.37:g.41766989G>A	ENSP00000368797:p.Pro469Ser		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P469S	ENST00000379483.3	37	c.1405	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	G	4.312	0.057155	0.08339	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.75589	-0.95	5.5	4.66	0.58398	Kelch-type beta propeller (1);	0.067898	0.64402	D	0.000014	T	0.65238	0.2672	L	0.41415	1.275	0.48762	D	0.999707	B	0.24426	0.103	B	0.23574	0.047	T	0.60561	-0.7239	10	0.32370	T	0.25	.	12.1333	0.53955	0.0837:0.0:0.9163:0.0	.	469	Q8WVZ9	KBTB7_HUMAN	S	469;371	ENSP00000368797:P469S	ENSP00000368797:P469S	P	-	1	0	KBTBD7	40664989	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	5.471000	0.66762	1.315000	0.45114	-0.145000	0.13849	CCT	KBTBD7	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.448	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41766989	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNC1	3746	genome.wustl.edu	37	11	17758017	17758017	+	Silent	SNP	G	G	A	rs200830147		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:17758017G>A	ENST00000379472.3	+	1	498	c.468G>A	c.(466-468)gcG>gcA	p.A156A	KCNC1_ENST00000265969.6_Silent_p.A156A	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	156					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	AGCGCCTGGCGCTCAGTGACT	0.731																																																	0													7.0	9.0	8.0					11																	17758017		2126	4144	6270	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.468G>A	11.37:g.17758017G>A			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.A156	ENST00000379472.3	37	c.468	CCDS7827.1	11																																																																																			KCNC1	-	NULL		0.731	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	G	NM_004976		17758017	+1	no_errors	ENST00000265969	ensembl	human	known	70_37	silent	SNP	0.992	A
KCNJ14	3770	genome.wustl.edu	37	19	48965260	48965260	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48965260C>G	ENST00000391884.1	+	1	755	c.279C>G	c.(277-279)ttC>ttG	p.F93L	KCNJ14_ENST00000342291.2_Missense_Mutation_p.F93L			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	93					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GCCTGCTCTTCTCCTGCTCCT	0.687																																					NSCLC(148;170 3504 35216)												0													74.0	42.0	52.0					19																	48965260		2203	4300	6503	SO:0001583	missense	3770			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.279C>G	19.37:g.48965260C>G	ENSP00000375756:p.Phe93Leu			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	p.F93L	ENST00000391884.1	37	c.279	CCDS12721.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713476	0.89112	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.96587	-4.06;-4.06	4.45	4.45	0.53987	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.113882	0.64402	D	0.000012	D	0.98501	0.9500	M	0.93241	3.395	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	.	14.9811	0.71311	0.0:1.0:0.0:0.0	.	93	Q9UNX9	IRK14_HUMAN	L	93	ENSP00000341479:F93L;ENSP00000375756:F93L	ENSP00000341479:F93L	F	+	3	2	KCNJ14	53657072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.886000	0.63149	2.205000	0.71048	0.591000	0.81541	TTC	KCNJ14	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.687	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ14	HGNC	protein_coding	OTTHUMT00000466127.1	C	NM_013348		48965260	+1	no_errors	ENST00000342291	ensembl	human	known	70_37	missense	SNP	1.000	G
KCTD1	284252	genome.wustl.edu	37	18	24127690	24127690	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:24127690C>G	ENST00000408011.3	-	1	545				KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Missense_Mutation_p.E271Q|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCCTGCTCCTCGAGCTTGCGG	0.677																																																	0													32.0	34.0	33.0					18																	24127690		692	1591	2283	SO:0001627	intron_variant	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1164G>C	18.37:g.24127690C>G			A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E271Q	ENST00000408011.3	37	c.811	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562120	0.65538	.	.	ENSG00000134504	ENST00000417602	T	0.77098	-1.07	4.53	4.53	0.55603	.	.	.	.	.	D	0.85673	0.5751	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87621	0.2510	6	0.62326	D	0.03	.	16.2892	0.82738	0.0:1.0:0.0:0.0	.	.	.	.	Q	271	ENSP00000408405:E271Q	ENSP00000408405:E271Q	E	-	1	0	KCTD1	22381688	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	7.001000	0.76297	2.073000	0.62155	0.563000	0.77884	GAG	KCTD1	-	NULL		0.677	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1	C	XM_209091		24127690	-1	no_errors	ENST00000417602	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM4B	23030	genome.wustl.edu	37	19	5144886	5144886	+	Silent	SNP	C	C	T	rs374475077		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5144886C>T	ENST00000159111.4	+	21	3212	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	KDM4B_ENST00000536461.1_Silent_p.I1032I	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	998	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCAAGTTCATCTCCTCCGTCA	0.622																																																	0													78.0	66.0	70.0					19																	5144886		2203	4300	6503	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2994C>T	19.37:g.5144886C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.I998	ENST00000159111.4	37	c.2994	CCDS12138.1	19																																																																																			KDM4B	-	smart_Tudor		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5144886	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	silent	SNP	0.971	T
KDM8	79831	genome.wustl.edu	37	16	27226287	27226287	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:27226287C>T	ENST00000286096.4	+	4	929	c.756C>T	c.(754-756)ctC>ctT	p.L252L	KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Silent_p.L290L|CTD-3203P2.1_ENST00000567108.1_RNA	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	252					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										CCCAGACCCTCATGACGGTCA	0.488																																																	0													200.0	165.0	177.0					16																	27226287		2197	4300	6497	SO:0001819	synonymous_variant	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.756C>T	16.37:g.27226287C>T			B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L290	ENST00000286096.4	37	c.870	CCDS10627.1	16																																																																																			KDM8	-	NULL		0.488	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	C	NM_024773		27226287	+1	no_errors	ENST00000441782	ensembl	human	known	70_37	silent	SNP	1.000	T
KDR	3791	genome.wustl.edu	37	4	55946116	55946116	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:55946116G>C	ENST00000263923.4	-	30	4358	c.4063C>G	c.(4063-4065)Cct>Gct	p.P1355A	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1355					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P1355del(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTAAACAGGAGGAGAGCTC	0.502			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Deletion - In frame(1)	lung(1)											141.0	137.0	139.0					4																	55946116		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.4063C>G	4.37:g.55946116G>C	ENSP00000263923:p.Pro1355Ala		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.P1355A	ENST00000263923.4	37	c.4063	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	5.472	0.272064	0.10349	.	.	ENSG00000128052	ENST00000263923	T	0.74421	-0.84	5.1	3.31	0.37934	.	0.064498	0.64402	N	0.000007	T	0.68668	0.3026	M	0.64997	1.995	0.38861	D	0.956473	B	0.06786	0.001	B	0.06405	0.002	T	0.69128	-0.5227	10	0.52906	T	0.07	.	9.6832	0.40082	0.0765:0.1394:0.7841:0.0	.	1355	P35968	VGFR2_HUMAN	A	1355	ENSP00000263923:P1355A	ENSP00000263923:P1355A	P	-	1	0	KDR	55640873	0.997000	0.39634	1.000000	0.80357	0.008000	0.06430	0.167000	0.16602	1.356000	0.45884	0.650000	0.86243	CCT	KDR	-	NULL		0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	G			55946116	-1	no_errors	ENST00000263923	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15715763	15715763	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:15715763C>G	ENST00000396368.3	-	12	2672	c.2466G>C	c.(2464-2466)aaG>aaC	p.K822N	KIAA0430_ENST00000344181.3_Missense_Mutation_p.K491N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K822N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K657N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K819N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K819N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	822	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTCAACACTCTTCACCTACA	0.458																																																	0													104.0	98.0	100.0					16																	15715763		1941	4145	6086	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2466G>C	16.37:g.15715763C>G	ENSP00000379654:p.Lys822Asn		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.K822N	ENST00000396368.3	37	c.2466	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387176	0.42308	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.79	2.8	0.32819	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.338270	0.33875	N	0.004479	T	0.67664	0.2917	L	0.56769	1.78	0.45502	D	0.998461	D;D;D;D	0.71674	0.989;0.998;0.998;0.991	P;P;P;P	0.62014	0.772;0.897;0.897;0.854	T	0.65504	-0.6152	9	0.49607	T	0.09	.	12.7052	0.57058	0.0:0.7347:0.0:0.2653	.	821;819;818;821	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	822;657;821;491;819;822;669	.	ENSP00000315718:K821N	K	-	3	2	KIAA0430	15623264	0.779000	0.28652	0.995000	0.50966	0.218000	0.24690	0.632000	0.24583	0.116000	0.18110	-0.797000	0.03246	AAG	KIAA0430	-	smart_RRM_dom,pfscan_RRM_dom		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	C	NM_014647		15715763	-1	no_errors	ENST00000396368	ensembl	human	known	70_37	missense	SNP	0.955	G
KIAA0754	643314	genome.wustl.edu	37	1	39878915	39878915	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:39878915G>C	ENST00000530275.1	+	1	2765	c.2570G>C	c.(2569-2571)aGa>aCa	p.R857T	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	857	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTGTCAGAGTGTCCACC	0.637																																																	0													23.0	28.0	26.0					1																	39878915		2011	4174	6185	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2570G>C	1.37:g.39878915G>C	ENSP00000431179:p.Arg857Thr		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.R857T	ENST00000530275.1	37	c.2570		1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123566	0.08931	.	.	ENSG00000255103	ENST00000530275	T	0.23348	1.91	4.11	-8.21	0.01041	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33214	-0.9877	9	0.26408	T	0.33	.	8.2722	0.31851	0.0849:0.1167:0.5879:0.2106	.	857	O94854	K0754_HUMAN	T	857	ENSP00000431179:R857T	ENSP00000431179:R857T	R	+	2	0	RP4-562N20.1	39651502	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-3.540000	0.00437	-2.232000	0.00717	0.313000	0.20887	AGA	KIAA0754	-	NULL		0.637	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39878915	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.000	C
KIAA1377	57562	genome.wustl.edu	37	11	101815077	101815077	+	Silent	SNP	G	G	A	rs376143192		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:101815077G>A	ENST00000263468.8	+	3	600	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	110										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAAACAGAAGTTTGAAGAAG	0.358																																																	0								G		0,4406		0,0,2203	77.0	78.0	78.0		330	1.9	1.0	11		78	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	KIAA1377	NM_020802.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		110/1118	101815077	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57562			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.330G>A	11.37:g.101815077G>A			Q4G0U6	Silent	SNP	NULL	p.K110	ENST00000263468.8	37	c.330	CCDS31658.1	11																																																																																			KIAA1377	-	NULL		0.358	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	G	NM_020802		101815077	+1	no_errors	ENST00000263468	ensembl	human	known	70_37	silent	SNP	0.998	A
KIAA1522	57648	genome.wustl.edu	37	1	33237475	33237475	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:33237475C>G	ENST00000373480.1	+	6	2621	c.2518C>G	c.(2518-2520)Ccc>Gcc	p.P840A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.P899A|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P851A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	840	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAGGGGCTCCCACCCCAGC	0.731																																																	0													8.0	10.0	10.0					1																	33237475		1906	4100	6006	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2518C>G	1.37:g.33237475C>G	ENSP00000362579:p.Pro840Ala		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	NULL	p.P899A	ENST00000373480.1	37	c.2695	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	4.011	-0.000581	0.07819	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.12255	2.7;2.7;2.7	4.98	1.94	0.25998	.	0.493569	0.18310	N	0.145153	T	0.14141	0.0342	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.19160	-1.0314	10	0.32370	T	0.25	-0.0059	12.4601	0.55727	0.0:0.711:0.2218:0.0672	.	851;840;899	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	A	899;851;840	ENSP00000383851:P899A;ENSP00000362580:P851A;ENSP00000362579:P840A	ENSP00000362579:P840A	P	+	1	0	KIAA1522	33010062	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.683000	0.05179	-0.033000	0.13736	-0.813000	0.03139	CCC	KIAA1522	-	NULL		0.731	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33237475	+1	no_errors	ENST00000401073	ensembl	human	known	70_37	missense	SNP	0.000	G
KIAA1522	57648	genome.wustl.edu	37	1	33237623	33237623	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:33237623C>G	ENST00000373480.1	+	6	2769	c.2666C>G	c.(2665-2667)tCa>tGa	p.S889*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Nonsense_Mutation_p.S948*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S900*	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	889	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAAGGCCTCTCAAGTGCTCAG	0.677																																																	0													16.0	19.0	18.0					1																	33237623		1971	4146	6117	SO:0001587	stop_gained	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2666C>G	1.37:g.33237623C>G	ENSP00000362579:p.Ser889*		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Nonsense_Mutation	SNP	NULL	p.S948*	ENST00000373480.1	37	c.2843	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136867	0.56936	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	.	.	.	5.21	-10.4	0.00318	.	2.859380	0.01174	N	0.006938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	8.865	15.8786	0.79185	0.0:0.5044:0.3853:0.1104	.	.	.	.	X	948;900;889	.	ENSP00000362579:S889X	S	+	2	0	KIAA1522	33010210	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-3.176000	0.00571	-3.154000	0.00230	-0.142000	0.14014	TCA	KIAA1522	-	NULL		0.677	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	C			33237623	+1	no_errors	ENST00000401073	ensembl	human	known	70_37	nonsense	SNP	0.000	G
KIF11	3832	genome.wustl.edu	37	10	94389984	94389984	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:94389984G>C	ENST00000260731.3	+	12	1447	c.1357G>C	c.(1357-1359)Gac>Cac	p.D453H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	453					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGTAAATCTGACCTGCAAAA	0.313																																					Colon(47;212 1003 2764 4062 8431)												0													56.0	56.0	56.0					10																	94389984		2203	4300	6503	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1357G>C	10.37:g.94389984G>C	ENSP00000260731:p.Asp453His		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D453H	ENST00000260731.3	37	c.1357	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	g	14.38	2.518928	0.44866	.	.	ENSG00000138160	ENST00000260731	T	0.74002	-0.8	5.82	5.82	0.92795	.	0.108390	0.64402	D	0.000009	T	0.78704	0.4325	L	0.56769	1.78	0.51233	D	0.999918	D	0.54397	0.966	P	0.53988	0.739	T	0.78006	-0.2373	10	0.44086	T	0.13	.	12.9752	0.58534	0.0743:0.0:0.9257:0.0	.	453	P52732	KIF11_HUMAN	H	453	ENSP00000260731:D453H	ENSP00000260731:D453H	D	+	1	0	KIF11	94379964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.630000	0.54273	2.751000	0.94390	0.650000	0.86243	GAC	KIF11	-	NULL		0.313	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	G	NM_004523		94389984	+1	no_errors	ENST00000260731	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF13A	63971	genome.wustl.edu	37	6	17826009	17826009	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:17826009C>T	ENST00000259711.6	-	16	1881	c.1776G>A	c.(1774-1776)ctG>ctA	p.L592L	KIF13A_ENST00000378814.5_Silent_p.L592L|KIF13A_ENST00000378826.2_Silent_p.L592L|KIF13A_ENST00000378843.2_Silent_p.L592L|KIF13A_ENST00000378816.5_Silent_p.L592L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	592					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATTACTATTCAGGGTTTTCA	0.498																																																	0													94.0	94.0	94.0					6																	17826009		1946	4138	6084	SO:0001819	synonymous_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1776G>A	6.37:g.17826009C>T			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L592	ENST00000259711.6	37	c.1776	CCDS47381.1	6																																																																																			KIF13A	-	NULL		0.498	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	C			17826009	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	silent	SNP	0.998	T
KIF13A	63971	genome.wustl.edu	37	6	17837725	17837725	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:17837725G>A	ENST00000259711.6	-	10	1025	c.920C>T	c.(919-921)tCa>tTa	p.S307L	KIF13A_ENST00000378814.5_Missense_Mutation_p.S307L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S307L|KIF13A_ENST00000378843.2_Missense_Mutation_p.S307L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S307L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	307	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGTGAGGACTGAATCTCGATA	0.428																																																	0													100.0	90.0	93.0					6																	17837725		1909	4112	6021	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.920C>T	6.37:g.17837725G>A	ENSP00000259711:p.Ser307Leu		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S307L	ENST00000259711.6	37	c.920	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.524798	0.96431	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.64	5.64	0.86602	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	D	0.96552	0.8875	H	0.98682	4.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97551	1.0092	10	0.87932	D	0	.	20.0585	0.97663	0.0:0.0:1.0:0.0	.	307;307;307;307	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	307	ENSP00000368091:S307L;ENSP00000259711:S307L;ENSP00000368103:S307L;ENSP00000368120:S307L;ENSP00000368093:S307L	ENSP00000259711:S307L	S	-	2	0	KIF13A	17945704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.812000	0.96745	0.557000	0.71058	TCA	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.428	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17837725	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF18A	81930	genome.wustl.edu	37	11	28112241	28112241	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:28112241C>G	ENST00000263181.6	-	5	912	c.622G>C	c.(622-624)Gat>Cat	p.D208H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTCCATTATCCAATAAATGT	0.333																																																	0													148.0	139.0	142.0					11																	28112241		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.622G>C	11.37:g.28112241C>G	ENSP00000263181:p.Asp208His		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D208H	ENST00000263181.6	37	c.622	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605219	0.87157	.	.	ENSG00000121621	ENST00000263181	T	0.75154	-0.91	5.41	5.41	0.78517	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.53249	1.67	0.80722	D	1	P	0.42248	0.774	P	0.48873	0.593	T	0.78383	-0.2225	10	0.45353	T	0.12	.	19.2036	0.93720	0.0:1.0:0.0:0.0	.	208	Q8NI77	KI18A_HUMAN	H	208	ENSP00000263181:D208H	ENSP00000263181:D208H	D	-	1	0	KIF18A	28068817	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.487000	0.81328	2.552000	0.86080	0.655000	0.94253	GAT	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.333	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28112241	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF18A	81930	genome.wustl.edu	37	11	28112262	28112262	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:28112262C>G	ENST00000263181.6	-	5	891	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AAAATTTCTTCTGAGGATTTG	0.299																																																	0													115.0	108.0	110.0					11																	28112262		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.601G>C	11.37:g.28112262C>G	ENSP00000263181:p.Glu201Gln		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E201Q	ENST00000263181.6	37	c.601	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673558	0.47781	.	.	ENSG00000121621	ENST00000263181	T	0.77877	-1.13	5.41	4.46	0.54185	Kinesin, motor domain (4);	0.150672	0.64402	D	0.000018	T	0.75759	0.3893	L	0.48935	1.535	0.58432	D	0.999999	B	0.25272	0.122	B	0.39152	0.292	T	0.68784	-0.5317	10	0.16420	T	0.52	.	15.3437	0.74317	0.0:0.7408:0.2592:0.0	.	201	Q8NI77	KI18A_HUMAN	Q	201	ENSP00000263181:E201Q	ENSP00000263181:E201Q	E	-	1	0	KIF18A	28068838	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.063000	0.49978	2.552000	0.86080	0.655000	0.94253	GAA	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.299	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	C	NM_031217		28112262	-1	no_errors	ENST00000263181	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF21A	55605	genome.wustl.edu	37	12	39730978	39730978	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:39730978C>T	ENST00000361418.5	-	17	2353	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	KIF21A_ENST00000544797.2_Missense_Mutation_p.E767K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E780K|KIF21A_ENST00000541463.2_Missense_Mutation_p.E767K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E767K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	780					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCTTGTTCTTCTTTCATT	0.348																																																	0													165.0	148.0	154.0					12																	39730978		2203	4298	6501	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2338G>A	12.37:g.39730978C>T	ENSP00000354878:p.Glu780Lys		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E780K	ENST00000361418.5	37	c.2338	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017021	0.93404	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000058	T	0.44582	0.1300	M	0.76574	2.34	0.50467	D	0.999871	P;D;P;D;D	0.71674	0.587;0.974;0.85;0.998;0.965	B;D;P;D;P	0.78314	0.225;0.969;0.507;0.991;0.672	T	0.41858	-0.9485	10	0.87932	D	0	.	18.0809	0.89441	0.0:1.0:0.0:0.0	.	767;767;780;767;780	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	K	767;780;780;767;780;767	ENSP00000354851:E767K;ENSP00000379029:E780K;ENSP00000445606:E767K;ENSP00000354878:E780K;ENSP00000438075:E767K	ENSP00000344501:E780K	E	-	1	0	KIF21A	38017245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.374000	0.59543	2.512000	0.84698	0.650000	0.86243	GAA	KIF21A	-	NULL		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	C	NM_017641		39730978	-1	no_errors	ENST00000395670	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF24	347240	genome.wustl.edu	37	9	34256848	34256848	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34256848C>G	ENST00000402558.2	-	10	2781	c.2757G>C	c.(2755-2757)tgG>tgC	p.W919C	KIF24_ENST00000379166.2_Missense_Mutation_p.W919C|KIF24_ENST00000345050.2_Missense_Mutation_p.W785C|KIF24_ENST00000379174.3_Missense_Mutation_p.W785C			Q5T7B8	KIF24_HUMAN	kinesin family member 24	919					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCTCTCTGCTCCAGTCCACGG	0.517																																																	0													79.0	86.0	84.0					9																	34256848		2203	4300	6503	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2757G>C	9.37:g.34256848C>G	ENSP00000384433:p.Trp919Cys		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.W919C	ENST00000402558.2	37	c.2757	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555058	0.45487	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.79749	-1.02;-1.3;-1.02;-1.3	5.71	5.71	0.89125	.	0.000000	0.39985	N	0.001212	T	0.76898	0.4052	M	0.66939	2.045	0.80722	D	1	P	0.41313	0.745	B	0.30646	0.118	T	0.80924	-0.1165	10	0.66056	D	0.02	.	16.1391	0.81512	0.1339:0.8661:0.0:0.0	.	919	Q5T7B8	KIF24_HUMAN	C	919;785;919;785;919	ENSP00000384433:W919C;ENSP00000368472:W785C;ENSP00000368464:W919C;ENSP00000340179:W785C	ENSP00000340179:W785C	W	-	3	0	KIF24	34246848	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	2.019000	0.41001	2.711000	0.92665	0.563000	0.77884	TGG	KIF24	-	NULL		0.517	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	C			34256848	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF6	221458	genome.wustl.edu	37	6	39398872	39398872	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:39398872C>T	ENST00000287152.7	-	14	1805	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	KIF6_ENST00000373215.3_Missense_Mutation_p.D571N|KIF6_ENST00000373213.4_Missense_Mutation_p.D410N|KIF6_ENST00000394362.1_Missense_Mutation_p.D22N|KIF6_ENST00000229913.5_Missense_Mutation_p.D22N|KIF6_ENST00000538893.1_Missense_Mutation_p.D515N|KIF6_ENST00000541946.1_Missense_Mutation_p.D22N|KIF6_ENST00000373216.3_Missense_Mutation_p.D571N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	571				CQEAFEIFKRDHADSVTIDDNKQILKQ -> NATILSSLTG PGLQHFGEKIQFAPQEN (in Ref. 4; CAD89950). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTAACGCTGTCAGCGTGGTCC	0.507																																																	0													144.0	119.0	127.0					6																	39398872		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1711G>A	6.37:g.39398872C>T	ENSP00000287152:p.Asp571Asn		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D571N	ENST00000287152.7	37	c.1711	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308738	0.81247	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T;T	0.70869	1.01;1.01;1.01;1.01;1.01;-0.52;1.01;1.01	5.84	5.84	0.93424	.	.	.	.	.	T	0.71762	0.3378	L	0.39020	1.185	0.46521	D	0.999085	D;B;B;D	0.89917	1.0;0.291;0.1;1.0	D;B;B;D	0.87578	0.998;0.058;0.023;0.996	T	0.64939	-0.6289	9	0.18276	T	0.48	.	18.9248	0.92540	0.0:1.0:0.0:0.0	.	571;515;571;571	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	N	571;22;571;410;22;571;515;22;22	ENSP00000287152:D571N;ENSP00000377889:D22N;ENSP00000362312:D571N;ENSP00000362309:D410N;ENSP00000229913:D22N;ENSP00000362311:D571N;ENSP00000441435:D515N;ENSP00000439064:D22N	ENSP00000229913:D22N	D	-	1	0	KIF6	39506850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.405000	0.66351	2.758000	0.94735	0.655000	0.94253	GAC	KIF6	-	NULL		0.507	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39398872	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	1.000	T
KIT	3815	genome.wustl.edu	37	4	55603353	55603353	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:55603353G>A	ENST00000288135.5	+	20	2806	c.2709G>A	c.(2707-2709)atG>atA	p.M903I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	903	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGACATAATGAAGACTTGCT	0.413		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0													125.0	109.0	114.0					4																	55603353		2203	4300	6503	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2709G>A	4.37:g.55603353G>A	ENSP00000288135:p.Met903Ile		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M903I	ENST00000288135.5	37	c.2709	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058650	0.76074	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85773	-2.03;-2.03	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.157328	0.43919	D	0.000511	D	0.87128	0.6100	L	0.32530	0.975	0.80722	D	1	P;P	0.50443	0.935;0.715	P;B	0.55508	0.777;0.351	D	0.88290	0.2942	10	0.87932	D	0	.	19.6218	0.95660	0.0:0.0:1.0:0.0	.	899;903	P10721-2;P10721	.;KIT_HUMAN	I	903;899	ENSP00000288135:M903I;ENSP00000390987:M899I	ENSP00000288135:M903I	M	+	3	0	KIT	55298110	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	ATG	KIT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	G			55603353	+1	no_errors	ENST00000288135	ensembl	human	known	70_37	missense	SNP	1.000	A
KLC1	3831	genome.wustl.edu	37	14	104120978	104120978	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:104120978C>G	ENST00000348520.6	+	2	396	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KLC1_ENST00000557575.1_Missense_Mutation_p.S26C|KLC1_ENST00000557450.1_Missense_Mutation_p.S26C|KLC1_ENST00000554280.1_Missense_Mutation_p.S26C|KLC1_ENST00000334553.6_Missense_Mutation_p.S26C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.S198C|KLC1_ENST00000347839.6_Missense_Mutation_p.S26C|KLC1_ENST00000389744.4_Missense_Mutation_p.S26C|KLC1_ENST00000553286.1_Missense_Mutation_p.S26C|KLC1_ENST00000246489.7_Missense_Mutation_p.S26C|KLC1_ENST00000452929.2_Missense_Mutation_p.S26C|KLC1_ENST00000445352.4_Missense_Mutation_p.S26C|KLC1_ENST00000555836.1_Missense_Mutation_p.S26C|KLC1_ENST00000380038.3_Missense_Mutation_p.S26C	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	26					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAAATTATTTCTAAGACAAAG	0.358																																																	0													73.0	73.0	73.0					14																	104120978		2203	4300	6503	SO:0001583	missense	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.77C>G	14.37:g.104120978C>G	ENSP00000341154:p.Ser26Cys		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.S26C	ENST00000348520.6	37	c.77	CCDS41996.1	14	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678076	0.14841	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;D;T;T;T;T;T;T;T;D;T;T;D;T	0.83837	0.85;-1.18;-1.75;-1.18;-1.17;-1.18;-1.17;-1.17;-1.18;-1.18;-1.77;-1.17;-1.18;-1.77;-0.43	5.47	2.66	0.31614	.	0.225114	0.47093	N	0.000244	T	0.74238	0.3690	L	0.35723	1.085	0.40085	D	0.976187	B;B;B;B;B	0.16802	0.019;0.001;0.01;0.002;0.002	B;B;B;B;B	0.23419	0.046;0.002;0.02;0.002;0.018	T	0.66204	-0.5982	10	0.49607	T	0.09	-3.6436	9.049	0.36365	0.0:0.7461:0.1217:0.1322	.	26;26;198;26;26	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	C	26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;198	ENSP00000450786:S26C;ENSP00000341154:S26C;ENSP00000369377:S26C;ENSP00000374394:S26C;ENSP00000450617:S26C;ENSP00000452487:S26C;ENSP00000334618:S26C;ENSP00000452481:S26C;ENSP00000334523:S26C;ENSP00000246489:S26C;ENSP00000450648:S26C;ENSP00000451242:S26C;ENSP00000414982:S26C;ENSP00000412693:S26C;ENSP00000439065:S198C	ENSP00000246489:S26C	S	+	2	0	KLC1;RP11-73M18.2	103190731	0.993000	0.37304	0.446000	0.26920	0.368000	0.29767	3.101000	0.50283	0.273000	0.22049	-0.781000	0.03364	TCT	KLC1	-	NULL		0.358	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	C	NM_005552		104120978	+1	no_errors	ENST00000334553	ensembl	human	known	70_37	missense	SNP	0.780	G
KLHL20	27252	genome.wustl.edu	37	1	173743497	173743497	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:173743497G>T	ENST00000209884.4	+	9	1485	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	KLHL20_ENST00000546011.1_Missense_Mutation_p.R261I	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	450					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGTACCAGAAGACTAGGTGTG	0.493																																					GBM(159;862 2695 6559 23041)												0													254.0	221.0	232.0					1																	173743497		2203	4300	6503	SO:0001583	missense	27252			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1349G>T	1.37:g.173743497G>T	ENSP00000209884:p.Arg450Ile		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R450I	ENST00000209884.4	37	c.1349	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.314359	0.95655	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.85171	-1.95;-1.95	5.27	5.27	0.74061	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97828	1.0261	10	0.87932	D	0	.	17.6701	0.88214	0.0:0.0:1.0:0.0	.	261;450	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	I	261;450	ENSP00000443121:R261I;ENSP00000209884:R450I	ENSP00000209884:R450I	R	+	2	0	KLHL20	172010120	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.576000	0.98192	2.456000	0.83038	0.655000	0.94253	AGA	KLHL20	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.493	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	G	NM_014458		173743497	+1	no_errors	ENST00000209884	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL3	26249	genome.wustl.edu	37	5	136997701	136997701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:136997701G>C	ENST00000309755.4	-	7	1099	c.656C>G	c.(655-657)tCa>tGa	p.S219*	KLHL3_ENST00000508657.1_Nonsense_Mutation_p.S187*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.S137*|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000394937.3_Nonsense_Mutation_p.S219*|KLHL3_ENST00000541417.1_Nonsense_Mutation_p.S99*	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	219	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATTGATCCATGAGATCACAGC	0.393																																																	0													114.0	100.0	105.0					5																	136997701		2203	4300	6503	SO:0001587	stop_gained	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.656C>G	5.37:g.136997701G>C	ENSP00000312397:p.Ser219*		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S219*	ENST00000309755.4	37	c.656	CCDS4192.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.832712	0.98513	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	.	.	.	4.99	4.99	0.66335	.	0.209839	0.42053	D	0.000765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.1994	0.54315	0.0779:0.0:0.9221:0.0	.	.	.	.	X	137;187;219;99;179;219	.	ENSP00000312397:S219X	S	-	2	0	KLHL3	137025600	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.753000	0.85153	2.767000	0.95098	0.655000	0.94253	TCA	KLHL3	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.393	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	G			136997701	-1	no_errors	ENST00000309755	ensembl	human	known	70_37	nonsense	SNP	0.997	C
KLHL31	401265	genome.wustl.edu	37	6	53519746	53519746	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:53519746G>C	ENST00000407079.1	-	1	324	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	KLHL31_ENST00000370905.3_Missense_Mutation_p.Q109E			Q9H511	KLH31_HUMAN	kelch-like family member 31	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCCACCCTCTGAATTGACGGG	0.418																																																	0													114.0	111.0	112.0					6																	53519746		2203	4300	6503	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.325C>G	6.37:g.53519746G>C	ENSP00000384644:p.Gln109Glu		A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q109E	ENST00000407079.1	37	c.325	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	G	0.961	-0.703148	0.03255	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.66280	-0.2;-0.2	6.03	4.2	0.49525	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.157447	0.64402	D	0.000015	T	0.23410	0.0566	N	0.16266	0.395	0.35688	D	0.814626	B	0.23735	0.09	B	0.28385	0.089	T	0.14117	-1.0484	10	0.02654	T	1	.	15.2889	0.73852	0.0:0.0:0.7369:0.2631	.	109	Q9H511	KLH31_HUMAN	E	109	ENSP00000359942:Q109E;ENSP00000384644:Q109E	ENSP00000359942:Q109E	Q	-	1	0	KLHL31	53627705	1.000000	0.71417	0.432000	0.26747	0.960000	0.62799	5.518000	0.67068	0.818000	0.34468	0.555000	0.69702	CAG	KLHL31	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.418	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	G	NM_001003760		53519746	-1	no_errors	ENST00000370905	ensembl	human	known	70_37	missense	SNP	1.000	C
KLRD1	3824	genome.wustl.edu	37	12	10464146	10464146	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:10464146A>G	ENST00000381907.4	+	5	449	c.247A>G	c.(247-249)Aac>Gac	p.N83D	KLRD1_ENST00000543420.1_Missense_Mutation_p.N83D|KLRD1_ENST00000381908.3_Missense_Mutation_p.N83D|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000543777.1_Missense_Mutation_p.N62D|KLRD1_ENST00000350274.5_Missense_Mutation_p.N52D|KLRD1_ENST00000336164.4_Missense_Mutation_p.N83D	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAAAACTTGGAACGAAAGTCG	0.428																																																	0													115.0	105.0	108.0					12																	10464146		2203	4300	6503	SO:0001583	missense	3824			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.247A>G	12.37:g.10464146A>G	ENSP00000371332:p.Asn83Asp		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.N83D	ENST00000381907.4	37	c.247	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601197	0.28534	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	T;T;T;T;T;T;T	0.40756	2.26;2.26;2.26;2.26;2.26;1.02;2.26	5.77	-7.66	0.01277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.615510	0.01023	N	0.004000	T	0.33000	0.0848	L	0.39085	1.19	0.09310	N	1	B;B;B;B	0.25312	0.012;0.012;0.123;0.058	B;B;B;B	0.20384	0.01;0.01;0.017;0.029	T	0.21143	-1.0254	10	0.13853	T	0.58	.	17.6305	0.88106	0.8879:0.0:0.1121:0.0	.	62;83;52;83	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	D	52;83;83;83;52;83;62	ENSP00000438669:N52D;ENSP00000371332:N83D;ENSP00000371333:N83D;ENSP00000338130:N83D;ENSP00000310929:N52D;ENSP00000441074:N83D;ENSP00000443584:N62D	ENSP00000338130:N83D	N	+	1	0	KLRD1	10355413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.724000	0.00809	-1.377000	0.02123	-0.912000	0.02778	AAC	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.428	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	A	NM_002262		10464146	+1	no_errors	ENST00000381908	ensembl	human	known	70_37	missense	SNP	0.001	G
KNDC1	85442	genome.wustl.edu	37	10	135011222	135011222	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:135011222C>G	ENST00000304613.3	+	12	1877	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.S619*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.S554*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	619					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACGCCTTCTCAGTGGTTGAA	0.667																																																	0													164.0	131.0	142.0					10																	135011222		2203	4300	6503	SO:0001587	stop_gained	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1856C>G	10.37:g.135011222C>G	ENSP00000304437:p.Ser619*		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S619*	ENST00000304613.3	37	c.1856	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.318294	0.98207	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.17	2.23	0.28157	.	0.601218	0.14271	N	0.330147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-3.8695	7.1679	0.25702	0.0:0.8616:0.0:0.1384	.	.	.	.	X	619;619;554	.	ENSP00000304437:S619X	S	+	2	0	KNDC1	134861212	0.002000	0.14202	0.011000	0.14972	0.186000	0.23388	0.186000	0.16978	0.634000	0.30469	0.313000	0.20887	TCA	KNDC1	-	NULL		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135011222	+1	no_errors	ENST00000368572	ensembl	human	known	70_37	nonsense	SNP	0.016	G
KNTC1	9735	genome.wustl.edu	37	12	123072416	123072416	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:123072416G>A	ENST00000333479.7	+	39	4066	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1297					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CACTTTGAGTGAAAAGGTATA	0.413																																																	0													98.0	85.0	89.0					12																	123072416		1858	4104	5962	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3889G>A	12.37:g.123072416G>A	ENSP00000328236:p.Glu1297Lys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E1297K	ENST00000333479.7	37	c.3889	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530834	0.27387	.	.	ENSG00000184445	ENST00000333479	T	0.15256	2.44	5.7	4.79	0.61399	.	0.501136	0.23183	N	0.050995	T	0.09642	0.0237	N	0.20685	0.6	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09357	-1.0678	10	0.07644	T	0.81	-4.9327	10.1345	0.42697	0.1565:0.0:0.8435:0.0	.	1297	P50748	KNTC1_HUMAN	K	1297	ENSP00000328236:E1297K	ENSP00000328236:E1297K	E	+	1	0	KNTC1	121638369	0.997000	0.39634	0.981000	0.43875	0.437000	0.31866	1.337000	0.33862	1.379000	0.46325	0.462000	0.41574	GAA	KNTC1	-	NULL		0.413	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123072416	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.987	A
KPNA3	3839	genome.wustl.edu	37	13	50275977	50275977	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:50275977C>G	ENST00000261667.3	-	17	1939	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	509					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GCTGTTGGATCAAAATTGTAG	0.363																																																	0													164.0	181.0	176.0					13																	50275977		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1525G>C	13.37:g.50275977C>G	ENSP00000261667:p.Asp509His		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D509H	ENST00000261667.3	37	c.1525	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737185	0.89482	.	.	ENSG00000102753	ENST00000261667	T	0.29917	1.55	6.17	6.17	0.99709	.	0.042170	0.85682	D	0.000000	T	0.48132	0.1483	M	0.63843	1.955	0.80722	D	1	P	0.37466	0.596	P	0.47470	0.548	T	0.28459	-1.0043	10	0.59425	D	0.04	-13.9303	20.8794	0.99867	0.0:1.0:0.0:0.0	.	509	O00505	IMA3_HUMAN	H	509	ENSP00000261667:D509H	ENSP00000261667:D509H	D	-	1	0	KPNA3	49173978	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.868000	0.63021	2.941000	0.99782	0.655000	0.94253	GAT	KPNA3	-	NULL		0.363	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50275977	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT23	25984	genome.wustl.edu	37	17	39079242	39079242	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39079242C>T	ENST00000209718.3	-	9	1692	c.1268G>A	c.(1267-1269)tGa>tAa	p.*423*	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.*286*	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	0						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCATTGGTCTCATGCGTGCTT	0.428																																																	0													144.0	124.0	131.0					17																	39079242		2203	4300	6503	SO:0001819	synonymous_variant	25984			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.1268G>A	17.37:g.39079242C>T			A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	pfam_F,prints_Keratin_I	p.*423	ENST00000209718.3	37	c.1268	CCDS11380.1	17																																																																																			KRT23	-	NULL		0.428	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	C			39079242	-1	no_errors	ENST00000209718	ensembl	human	known	70_37	silent	SNP	0.003	T
KRT33A	3883	genome.wustl.edu	37	17	39505616	39505616	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39505616G>A	ENST00000007735.3	-	2	457	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	138	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S138L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAAGTCATCTGAGGCCAGCTT	0.502																																																	1	Substitution - Missense(1)	urinary_tract(1)											111.0	102.0	105.0					17																	39505616		2203	4300	6503	SO:0001583	missense	3883			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.413C>T	17.37:g.39505616G>A	ENSP00000007735:p.Ser138Leu		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S138L	ENST00000007735.3	37	c.413	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030186	0.54790	.	.	ENSG00000006059	ENST00000007735	D	0.87179	-2.22	5.03	5.03	0.67393	Filament (1);	0.811364	0.10899	N	0.621819	T	0.76572	0.4006	N	0.02960	-0.455	0.28635	N	0.907452	B	0.06786	0.001	B	0.12837	0.008	T	0.68720	-0.5334	10	0.87932	D	0	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	138	O76009	KT33A_HUMAN	L	138	ENSP00000007735:S138L	ENSP00000007735:S138L	S	-	2	0	KRT33A	36759142	0.996000	0.38824	0.094000	0.20943	0.892000	0.51952	7.543000	0.82106	2.760000	0.94817	0.655000	0.94253	TCA	KRT33A	-	pfam_F,prints_Keratin_I		0.502	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	G	NM_004138		39505616	-1	no_errors	ENST00000007735	ensembl	human	known	70_37	missense	SNP	0.587	A
KRT14	3861	genome.wustl.edu	37	17	39742949	39742949	+	Silent	SNP	G	G	A	rs565122423	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:39742949G>A	ENST00000167586.6	-	1	224	c.138C>T	c.(136-138)taC>taT	p.Y46Y		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	46	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGCCGCCCCCGTAGGTGCTGG	0.731													G|||	3	0.000599042	0.0008	0.0	5008	,	,		12898	0.002		0.0	False		,,,				2504	0.0																0													13.0	17.0	16.0					17																	39742949		2155	4213	6368	SO:0001819	synonymous_variant	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.138C>T	17.37:g.39742949G>A			Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Y46	ENST00000167586.6	37	c.138	CCDS11400.1	17																																																																																			KRT14	-	NULL		0.731	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	G	NM_000526		39742949	-1	no_errors	ENST00000167586	ensembl	human	known	70_37	silent	SNP	0.086	A
KRT7	3855	genome.wustl.edu	37	12	52627214	52627214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:52627214C>G	ENST00000331817.5	+	1	317	c.134C>G	c.(133-135)tCa>tGa	p.S45*		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	45	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CTCGGCGCCTCACGGCCGCGC	0.766																																																	0													4.0	6.0	5.0					12																	52627214		1688	3537	5225	SO:0001587	stop_gained	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.134C>G	12.37:g.52627214C>G	ENSP00000329243:p.Ser45*		Q92676|Q9BUD8|Q9Y3R7	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II	p.S45*	ENST00000331817.5	37	c.134	CCDS8822.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584130	0.86748	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	.	.	.	4.48	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.1642	0.72807	0.0:0.8584:0.1416:0.0	.	.	.	.	X	45	.	ENSP00000329243:S45X	S	+	2	0	KRT7	50913481	0.004000	0.15560	0.258000	0.24420	0.584000	0.36387	0.640000	0.24705	2.502000	0.84385	0.457000	0.33378	TCA	KRT7	-	NULL		0.766	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	HGNC	protein_coding	OTTHUMT00000404897.1	C	NM_005556		52627214	+1	no_errors	ENST00000331817	ensembl	human	known	70_37	nonsense	SNP	0.145	G
KRT85	3891	genome.wustl.edu	37	12	52758934	52758934	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:52758934C>G	ENST00000257901.3	-	2	516	c.441G>C	c.(439-441)caG>caC	p.Q147H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	147	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Q147H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGCTTGTTCTGCTGCTCCA	0.612																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											37.0	36.0	36.0					12																	52758934		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.441G>C	12.37:g.52758934C>G	ENSP00000257901:p.Gln147His		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.Q147H	ENST00000257901.3	37	c.441	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780397	0.70222	.	.	ENSG00000135443	ENST00000257901	D	0.90133	-2.62	4.21	4.21	0.49690	Filament (1);	0.000000	0.56097	D	0.000030	D	0.94804	0.8322	M	0.88310	2.945	0.80722	D	1	P	0.51057	0.941	P	0.60286	0.872	D	0.95247	0.8356	10	0.87932	D	0	.	11.6914	0.51519	0.0:0.9133:0.0:0.0867	.	147	P78386	KRT85_HUMAN	H	147	ENSP00000257901:Q147H	ENSP00000257901:Q147H	Q	-	3	2	KRT85	51045201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.989000	0.40707	2.335000	0.79485	0.491000	0.48974	CAG	KRT85	-	pfam_F		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52758934	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	G
KRTAP10-3	386682	genome.wustl.edu	37	21	45977948	45977948	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:45977948C>T	ENST00000391620.1	-	1	695	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	217						keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGCTGGACTTCTGGCCTGAGG	0.662																																																	0													28.0	32.0	31.0					21																	45977948		2167	4262	6429	SO:0001819	synonymous_variant	386682			AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.651G>A	21.37:g.45977948C>T			A3KN67|Q70LJ4	Silent	SNP	NULL	p.Q217	ENST00000391620.1	37	c.651	CCDS42956.1	21																																																																																			KRTAP10-3	-	NULL		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	C			45977948	-1	no_errors	ENST00000391620	ensembl	human	known	70_37	silent	SNP	0.220	T
KRTAP10-6	386674	genome.wustl.edu	37	21	46012207	46012207	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:46012207C>G	ENST00000400368.1	-	1	179	c.159G>C	c.(157-159)ctG>ctC	p.L53L	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	53	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACCAGGCTCAGGCAGGGGG	0.687																																																	0													17.0	13.0	14.0					21																	46012207		1985	4085	6070	SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.159G>C	21.37:g.46012207C>G				Silent	SNP	NULL	p.L53	ENST00000400368.1	37	c.159	CCDS42959.1	21																																																																																			KRTAP10-6	-	NULL		0.687	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	C	NM_198688		46012207	-1	no_errors	ENST00000400368	ensembl	human	known	70_37	silent	SNP	0.841	G
KRTAP10-11	386678	genome.wustl.edu	37	21	46066404	46066404	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:46066404C>G	ENST00000334670.8	+	1	74	c.29C>G	c.(28-30)tCc>tGc	p.S10C	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	10						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGTCTGCTCCAGCGCTTAC	0.667																																																	0													71.0	75.0	74.0					21																	46066404		2203	4298	6501	SO:0001583	missense	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.29C>G	21.37:g.46066404C>G	ENSP00000334197:p.Ser10Cys		A2RRF9	Missense_Mutation	SNP	NULL	p.S10C	ENST00000334670.8	37	c.29	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	10.06	1.246216	0.22796	.	.	ENSG00000243489	ENST00000334670	T	0.14266	2.52	3.83	3.83	0.44106	.	.	.	.	.	T	0.34629	0.0904	M	0.69358	2.11	0.34147	D	0.667095	D	0.89917	1.0	D	0.83275	0.996	T	0.52366	-0.8585	9	0.87932	D	0	.	13.2262	0.59916	0.0:1.0:0.0:0.0	.	10	P60412	KR10B_HUMAN	C	10	ENSP00000334197:S10C	ENSP00000334197:S10C	S	+	2	0	KRTAP10-11	44890832	1.000000	0.71417	0.984000	0.44739	0.014000	0.08584	2.451000	0.44952	1.679000	0.50963	0.462000	0.41574	TCC	KRTAP10-11	-	NULL		0.667	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	C	NM_198692		46066404	+1	no_errors	ENST00000334670	ensembl	human	known	70_37	missense	SNP	1.000	G
KRTAP5-2	440021	genome.wustl.edu	37	11	1619458	1619458	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1619458C>G	ENST00000412090.1	-	1	66	c.23G>C	c.(22-24)aGa>aCa	p.R8T	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	8						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCTCTGGAGCAGCC	0.682																																																	0													64.0	74.0	71.0					11																	1619458		2195	4297	6492	SO:0001583	missense	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.23G>C	11.37:g.1619458C>G	ENSP00000400041:p.Arg8Thr		A9JTZ1	Missense_Mutation	SNP	NULL	p.R8T	ENST00000412090.1	37	c.23	CCDS31331.1	11	.	.	.	.	.	.	.	.	.	.	c	8.757	0.922668	0.18056	.	.	ENSG00000205867	ENST00000412090	T	0.00686	5.85	3.67	3.67	0.42095	.	.	.	.	.	T	0.00468	0.0015	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47114	-0.9142	9	0.22706	T	0.39	.	8.9341	0.35688	0.2227:0.7773:0.0:0.0	.	8	Q701N4	KRA52_HUMAN	T	8	ENSP00000400041:R8T	ENSP00000400041:R8T	R	-	2	0	KRTAP5-2	1576034	0.428000	0.25522	0.344000	0.25628	0.637000	0.38172	1.864000	0.39469	1.812000	0.52913	0.433000	0.28618	AGA	KRTAP5-2	-	NULL		0.682	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-2	HGNC	protein_coding	OTTHUMT00000384775.1	C	NM_001004325		1619458	-1	no_errors	ENST00000412090	ensembl	human	known	70_37	missense	SNP	0.035	G
L1CAM	3897	genome.wustl.edu	37	X	153133896	153133896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:153133896G>A	ENST00000370060.1	-	14	1753	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q522*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q522*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q517*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q517*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q524*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q524*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	522	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGCCCCTGAGTGATCTGA	0.612																																																	0													109.0	115.0	113.0					X																	153133896		2203	4300	6503	SO:0001587	stop_gained	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1564C>T	X.37:g.153133896G>A	ENSP00000359077:p.Gln522*		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q524*	ENST00000370060.1	37	c.1570	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192264	0.78902	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.62	2.39	0.29439	.	0.524378	0.17438	N	0.174217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5281	0.07766	0.0904:0.1325:0.4692:0.3079	.	.	.	.	X	522;524;522;524;517;517;522	.	ENSP00000355380:Q522X	Q	-	1	0	L1CAM	152787090	0.592000	0.26832	0.454000	0.27019	0.016000	0.09150	1.023000	0.30065	0.490000	0.27771	0.529000	0.55759	CAG	L1CAM	-	pfam_Ig_I-set,pfscan_Ig-like		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153133896	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	nonsense	SNP	0.158	A
LARGE	9215	genome.wustl.edu	37	22	33733679	33733679	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:33733679G>A	ENST00000354992.2	-	11	1811	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	LARGE_ENST00000452586.2_Missense_Mutation_p.R213W|LARGE_ENST00000397394.2_Missense_Mutation_p.R414W|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000437602.2_Missense_Mutation_p.R414W|LARGE_ENST00000402320.1_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	414					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AACAGTTCCCGCCTCAGAAGA	0.552																																					Colon(70;397 1175 4573 19089 45288)												0													78.0	69.0	72.0					22																	33733679		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1240C>T	22.37:g.33733679G>A	ENSP00000347088:p.Arg414Trp		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R414W	ENST00000354992.2	37	c.1240	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699250	0.68501	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000397394;ENST00000452586;ENST00000437602	T;T;T;T	0.57107	0.94;0.94;0.53;0.42	5.08	5.08	0.68730	.	0.062120	0.64402	D	0.000003	T	0.74230	0.3689	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.81914	0.995;0.976;0.945	T	0.78324	-0.2248	10	0.87932	D	0	-0.0154	18.5005	0.90879	0.0:0.0:1.0:0.0	.	414;213;414	B7Z2I9;E9PH73;O95461	.;.;LARGE_HUMAN	W	91;91;91;414;414;213;414	ENSP00000347088:R414W;ENSP00000380549:R414W;ENSP00000407917:R213W;ENSP00000388544:R414W	ENSP00000347088:R414W	R	-	1	2	LARGE	32063679	0.981000	0.34729	0.998000	0.56505	0.160000	0.22226	1.836000	0.39191	2.367000	0.80283	0.561000	0.74099	CGG	LARGE	-	NULL		0.552	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	G	NM_133642		33733679	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	A
LARP1	23367	genome.wustl.edu	37	5	154188117	154188117	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:154188117G>C	ENST00000336314.4	+	16	2590	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	933					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGATGTATGAGGAGTTCAA	0.532																																																	0													75.0	74.0	74.0					5																	154188117		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2566G>C	5.37:g.154188117G>C	ENSP00000336721:p.Glu856Gln		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E856Q	ENST00000336314.4	37	c.2566	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297626	0.81025	.	.	ENSG00000155506	ENST00000336314	T	0.26660	1.72	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	L	0.55743	1.74	0.80722	D	1	B;B	0.28667	0.053;0.219	B;B	0.30943	0.03;0.122	T	0.04281	-1.0963	10	0.52906	T	0.07	-13.3605	20.1082	0.97900	0.0:0.0:1.0:0.0	.	933;856	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	856	ENSP00000336721:E856Q	ENSP00000336721:E856Q	E	+	1	0	LARP1	154168310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.643000	0.98464	2.764000	0.94973	0.555000	0.69702	GAG	LARP1	-	smart_DM15		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154188117	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	C
LCE3C	353144	genome.wustl.edu	37	1	152573352	152573352	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152573352G>A	ENST00000333881.3	+	1	215	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	49					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCCCAGTTCTGAAAGTGGCTG	0.617																																																	0													61.0	56.0	58.0					1																	152573352		1817	2724	4541	SO:0001583	missense	353144			BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"""Late cornified envelopes"""	16612	protein-coding gene	gene with protein product		612615	"""small proline rich-like (epidermal differentiation complex) 3A"""	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.145G>A	1.37:g.152573352G>A	ENSP00000334644:p.Glu49Lys		A1L420	Missense_Mutation	SNP	NULL	p.E49K	ENST00000333881.3	37	c.145	CCDS1015.1	1	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713868	0.15306	.	.	ENSG00000244057	ENST00000333881	T	0.03920	3.76	3.86	3.86	0.44501	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.27909	N	0.938693	P	0.48162	0.906	B	0.43386	0.418	T	0.34700	-0.9818	8	0.87932	D	0	.	11.1394	0.48394	0.0:0.0:1.0:0.0	.	49	Q5T5A8	LCE3C_HUMAN	K	49	ENSP00000334644:E49K	ENSP00000334644:E49K	E	+	1	0	LCE3C	150839976	0.046000	0.20272	0.856000	0.33681	0.107000	0.19398	1.717000	0.37991	1.985000	0.57927	0.313000	0.20887	GAA	LCE3C	-	NULL		0.617	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3C	HGNC	protein_coding	OTTHUMT00000040061.2	G	NM_178434		152573352	+1	no_errors	ENST00000333881	ensembl	human	known	70_37	missense	SNP	0.927	A
LBR	3930	genome.wustl.edu	37	1	225592163	225592163	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:225592163G>A	ENST00000338179.2	-	13	1755	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	LBR_ENST00000272163.4_Missense_Mutation_p.R544C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	544					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTGGGGTGGCGAACAAAGCCC	0.413																																																	0													67.0	69.0	68.0					1																	225592163		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1630C>T	1.37:g.225592163G>A	ENSP00000339883:p.Arg544Cys		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.R544C	ENST00000338179.2	37	c.1630	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.274431	0.95459	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.98762	-5.12;-5.12	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97985	1.0351	10	0.87932	D	0	-19.7542	20.3316	0.98722	0.0:0.0:1.0:0.0	.	544	Q14739	LBR_HUMAN	C	544	ENSP00000272163:R544C;ENSP00000339883:R544C	ENSP00000272163:R544C	R	-	1	0	LBR	223658786	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.708000	0.98727	2.871000	0.98454	0.655000	0.94253	CGC	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295		0.413	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225592163	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	missense	SNP	1.000	A
LETM1	3954	genome.wustl.edu	37	4	1824792	1824792	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:1824792C>G	ENST00000302787.2	-	9	1695	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	467					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCGTGGCCTCCAGCTTGGCC	0.637																																																	0													90.0	83.0	86.0					4																	1824792		2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1399G>C	4.37:g.1824792C>G	ENSP00000305653:p.Glu467Gln		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.E467Q	ENST00000302787.2	37	c.1399	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.071323	0.93950	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85673	0.1296	9	0.72032	D	0.01	-42.8047	18.2177	0.89892	0.0:1.0:0.0:0.0	.	467	O95202	LETM1_HUMAN	Q	467	.	ENSP00000305653:E467Q	E	-	1	0	LETM1	1794590	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.344000	0.79328	2.299000	0.77371	0.491000	0.48974	GAG	LETM1	-	NULL		0.637	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	C			1824792	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	1.000	G
LGALS9	3965	genome.wustl.edu	37	17	25958316	25958316	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:25958316C>T	ENST00000395473.2	+	1	1493	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.P9S|LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.P9S|LGALS9_ENST00000302228.5_Missense_Mutation_p.P9S	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	9					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TTCCCAGGCTCCCTACCTGAG	0.607																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0													66.0	64.0	65.0					17																	25958316		2203	4300	6503	SO:0001583	missense	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.25C>T	17.37:g.25958316C>T	ENSP00000378856:p.Pro9Ser		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.P9S	ENST00000395473.2	37	c.25	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	C	3.198	-0.164364	0.06502	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000448970	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.57	-0.709	0.11237	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.363023	0.24384	N	0.038987	T	0.10208	0.0250	M	0.64630	1.985	0.22521	N	0.999025	P;B;B	0.37864	0.61;0.063;0.13	B;B;B	0.34991	0.193;0.015;0.023	T	0.16276	-1.0408	10	0.51188	T	0.08	.	1.2962	0.02070	0.2252:0.4167:0.2201:0.138	.	9;9;9	F8W9W4;Q3B8N1;O00182	.;.;LEG9_HUMAN	S	9	ENSP00000378856:P9S;ENSP00000306228:P9S;ENSP00000312259:P9S;ENSP00000318214:P9S	ENSP00000306228:P9S	P	+	1	0	LGALS9	22982443	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-0.039000	0.12124	-0.094000	0.12374	-1.452000	0.01034	CCC	LGALS9	-	superfamily_ConA-like_lec_gl_sf		0.607	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	C	NM_009587		25958316	+1	no_errors	ENST00000395473	ensembl	human	known	70_37	missense	SNP	0.013	T
LIN54	132660	genome.wustl.edu	37	4	83905683	83905683	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:83905683C>T	ENST00000340417.3	-	2	692	c.315G>A	c.(313-315)caG>caA	p.Q105Q	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000505397.1_Silent_p.Q105Q|LIN54_ENST00000395282.2_Silent_p.Q105Q|LIN54_ENST00000506560.1_Silent_p.Q105Q|LIN54_ENST00000395283.2_Silent_p.Q105Q	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	105					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCACAGGAGTCTGAGCACCAA	0.388																																																	0													222.0	222.0	222.0					4																	83905683		2203	4300	6503	SO:0001819	synonymous_variant	132660			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.315G>A	4.37:g.83905683C>T			Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	pfam_CRC	p.Q105	ENST00000340417.3	37	c.315	CCDS3599.1	4																																																																																			LIN54	-	NULL		0.388	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2	C	NM_194282		83905683	-1	no_errors	ENST00000340417	ensembl	human	known	70_37	silent	SNP	1.000	T
LINC00269	100996279	genome.wustl.edu	37	X	68428293	68428293	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:68428293C>G	ENST00000399711.1	+	0	699					NR_103715.1		Q8N2A0	CX062_HUMAN	long intergenic non-protein coding RNA 269																		aggctggtctcaaactcctga	0.532																																																	0																																												100996279			AK090929		Xq13.1	2013-06-14	2011-08-11	2011-08-11	ENSG00000215162	ENSG00000215162		"""Long non-coding RNAs"""	26586	non-coding RNA	RNA, long non-coding			"""chromosome X open reading frame 62"", ""non-protein coding RNA 269"""	CXorf62, NCRNA00269			Standard	NR_103715		Approved	FLJ33610	uc004dxj.1	Q8N2A0	OTTHUMG00000021754		X.37:g.68428293C>G				RNA	SNP	-	NULL	ENST00000399711.1	37	NULL		X																																																																																			LINC00269	-	-		0.532	LINC00269-001	KNOWN	basic	lincRNA	LINC00269	HGNC	lincRNA	OTTHUMT00000057035.2	C			68428293	+1	no_errors	ENST00000399711	ensembl	human	known	70_37	rna	SNP	0.013	G
FAM230C	26080	genome.wustl.edu	37	22	21663083	21663083	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:21663083G>A	ENST00000436681.1	-	0	1087																											GCTCGTTGGCGATGCCGTGGG	0.612																																																	0																																												26080																															22.37:g.21663083G>A				RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-		0.612	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	G			21663083	-1	no_errors	ENST00000436681	ensembl	human	known	70_37	rna	SNP	0.611	A
LINC00341	79686	genome.wustl.edu	37	14	95875614	95875614	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:95875614C>T	ENST00000464767.1	-	0	813					NR_026779.1		Q9H761	CN139_HUMAN	long intergenic non-protein coding RNA 341																		gatcatGACTCCATAGCACAG	0.522																																																	0																																												79686			AK024929		14q32.13	2012-10-12	2011-08-10	2011-08-10	ENSG00000229645			"""Long non-coding RNAs"""	20353	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 139"", ""non-protein coding RNA 341"""	C14orf139, NCRNA00341			Standard	NR_026779		Approved		uc001yeh.4	Q9H761	OTTHUMG00000028884		14.37:g.95875614C>T			Q6IA18	RNA	SNP	-	NULL	ENST00000464767.1	37	NULL		14																																																																																			LINC00341	-	-		0.522	LINC00341-001	KNOWN	basic	lincRNA	LINC00341	HGNC	lincRNA	OTTHUMT00000072103.2	C	NR_026779		95875614	-1	no_errors	ENST00000464767	ensembl	human	known	70_37	rna	SNP	0.000	T
LIPA	3988	genome.wustl.edu	37	10	90983552	90983552	+	Silent	SNP	A	A	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:90983552A>G	ENST00000336233.5	-	7	1033	c.711T>C	c.(709-711)agT>agC	p.S237S	LIPA_ENST00000371837.1_Silent_p.S181S|LIPA_ENST00000456827.1_Silent_p.S237S			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	237					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCAAAAACGCACTCTGGGGAA	0.418																																																	0													86.0	89.0	88.0					10																	90983552		2203	4300	6503	SO:0001819	synonymous_variant	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.711T>C	10.37:g.90983552A>G			B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Silent	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.S239	ENST00000336233.5	37	c.717	CCDS7401.1	10																																																																																			LIPA	-	pfam_AB_hydrolase_1		0.418	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	A	NM_000235		90983552	-1	no_errors	ENST00000425287	ensembl	human	known	70_37	silent	SNP	0.011	G
TBC1D14	57533	genome.wustl.edu	37	4	7033827	7033827	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:7033827C>G	ENST00000409757.4	+	0	3914				TBC1D14_ENST00000448507.1_3'UTR|RP11-367J11.2_ENST00000500031.1_RNA|TBC1D14_ENST00000410031.1_3'UTR|TBC1D14_ENST00000451522.2_3'UTR	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14						negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AGACCACTTTCTGCCTCGGCC	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	100129931			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.*1708C>G	4.37:g.7033827C>G			B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	RNA	SNP	-	NULL	ENST00000409757.4	37	NULL	CCDS3394.2	4																																																																																			RP11-367J11.2	-	-		0.587	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129931	Clone_based_vega_gene	protein_coding	OTTHUMT00000206981.3	C	NM_020773		7033827	-1	no_errors	ENST00000500031	ensembl	human	known	70_37	rna	SNP	0.002	G
LINC00910	100130581	genome.wustl.edu	37	17	41456625	41456625	+	IGR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:41456625C>T								LINC00854 (73287 upstream) : LINC00910 (7968 downstream)																							TGAGCAACTGCGTTGCCTGCG	0.537																																																	0																																										SO:0001628	intergenic_variant	100130581																															17.37:g.41456625C>T				RNA	SNP	-	NULL		37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	7.896	0.733312	0.15574	.	.	ENSG00000188825	ENST00000341011;ENST00000418911	.	.	.	1.03	-2.07	0.07276	.	.	.	.	.	T	0.36853	0.0982	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47484	-0.9114	4	0.87932	D	0	.	4.3363	0.11089	0.0:0.5271:0.0:0.4729	.	.	.	.	H	22	.	ENSP00000342423:R22H	R	-	2	0	AC087650.1	38812151	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.099000	0.03343	-0.553000	0.06158	-0.628000	0.03992	CGC	CTD-3014M21.4	-	-	0	0.537					LOC100130581	Clone_based_vega_gene			C			41456625	-1	no_errors	ENST00000341011	ensembl	human	known	70_37	rna	SNP	0.000	T
VAC14	55697	genome.wustl.edu	37	16	70789069	70789069	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:70789069C>G	ENST00000261776.5	-	12	1632				VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCACCGGCCTCAGCGCTTCTG	0.687																																																	0																																										SO:0001627	intron_variant	100130894			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1371+7373G>C	16.37:g.70789069C>G			B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	RNA	SNP	-	NULL	ENST00000261776.5	37	NULL	CCDS10896.1	16																																																																																			RP11-394B2.4	-	-		0.687	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100130894	Clone_based_vega_gene	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70789069	+1	no_errors	ENST00000398177	ensembl	human	known	70_37	rna	SNP	0.000	G
GTF3C2	2976	genome.wustl.edu	37	2	27560101	27560101	+	Intron	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:27560101C>A	ENST00000359541.2	-	7	1557				AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Intron|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGATGTGCAATCTTCACC	0.468																																																	0													54.0	48.0	50.0					2																	27560101		2203	4300	6503	SO:0001627	intron_variant	100505624			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1127+9G>T	2.37:g.27560101C>A			D6W557|Q16632|Q9BWI7	RNA	SNP	-	NULL	ENST00000359541.2	37	NULL	CCDS1749.1	2																																																																																			AC109828.1	-	-		0.468	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100505624	Clone_based_vega_gene	protein_coding	OTTHUMT00000215028.2	C			27560101	+1	no_errors	ENST00000416453	ensembl	human	known	70_37	rna	SNP	0.000	A
PTPRG	5793	genome.wustl.edu	37	3	62262567	62262567	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:62262567C>G	ENST00000474889.1	+	25	3936				PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Intron|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGTTATTCATCAAGCAAATCT	0.363																																																	0																																										SO:0001627	intron_variant	100506994			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3560-80C>G	3.37:g.62262567C>G			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	RNA	SNP	-	NULL	ENST00000474889.1	37	NULL	CCDS2895.1	3																																																																																			RP11-204J18.3	-	-		0.363	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506994	Clone_based_vega_gene	protein_coding	OTTHUMT00000351674.1	C	NM_002841		62262567	-1	no_errors	ENST00000466893	ensembl	human	known	70_37	rna	SNP	0.000	G
MAMDC2	256691	genome.wustl.edu	37	9	72787636	72787636	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:72787636C>T	ENST00000377182.4	+	11	2268				MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GACCTCTTTTCTTGCTGCTTC	0.478																																																	0																																										SO:0001627	intron_variant	100507244			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1651+2089C>T	9.37:g.72787636C>T			Q5VW47|Q8WX43|Q96BM4	RNA	SNP	-	NULL	ENST00000377182.4	37	NULL	CCDS6631.1	9																																																																																			RP11-195E11.2	-	-		0.478	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507244	Clone_based_vega_gene	protein_coding	OTTHUMT00000052600.1	C	NM_153267		72787636	-1	no_errors	ENST00000420573	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC100507431	100507431	genome.wustl.edu	37	11	130724712	130724712	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:130724712C>T	ENST00000533812.2	-	0	1021																											TCTCTTTCTTCGGCACCAAGT	0.473																																																	0																																												100507431																															11.37:g.130724712C>T				RNA	SNP	-	NULL	ENST00000533812.2	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	6.517	0.463661	0.12402	.	.	ENSG00000254842	ENST00000533812	.	.	.	2.52	-3.55	0.04639	.	.	.	.	.	T	0.24392	0.0591	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.27905	-1.0060	6	0.87932	D	0	.	0.6658	0.00850	0.1738:0.2541:0.1715:0.4007	.	66	G5EA22	.	Q	66	.	ENSP00000436275:R66Q	R	-	2	0	RP11-890B15.2	130229922	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.004000	0.01461	-0.982000	0.03515	-0.216000	0.12614	CGA	RP11-890B15.2	-	-		0.473	RP11-890B15.2-001	KNOWN	basic|exp_conf	lincRNA	LOC100507431	Clone_based_vega_gene	lincRNA	OTTHUMT00000385642.2	C			130724712	-1	no_errors	ENST00000533812	ensembl	human	known	70_37	rna	SNP	0.000	T
TIMP2	7077	genome.wustl.edu	37	17	76887930	76887930	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:76887930G>A	ENST00000262768.7	-	2	429				DDC8_ENST00000322630.2_Missense_Mutation_p.P219L|TIMP2_ENST00000536189.2_Intron	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CTTCTCAGGCGGGGCCAGGTG	0.607																																																	0																																										SO:0001627	intron_variant	100653515				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.131-17929C>T	17.37:g.76887930G>A			Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	NULL	p.P219L	ENST00000262768.7	37	c.656	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122568	0.08931	.	.	ENSG00000178404	ENST00000322630	T	0.29655	1.56	3.5	0.351	0.16042	.	1.235200	0.06270	N	0.695524	T	0.16514	0.0397	.	.	.	0.09310	N	1	B	0.30179	0.271	B	0.17722	0.019	T	0.23797	-1.0178	9	0.19147	T	0.46	0.0085	8.1789	0.31298	0.3111:0.0:0.6889:0.0	.	219	Q96MC4	.	L	219	ENSP00000312767:P219L	ENSP00000312767:P219L	P	-	2	0	AC100788.1	74399525	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.021000	0.30040	-0.089000	0.12484	-1.134000	0.01955	CCG	CTD-2373H9.6	-	NULL		0.607	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100653515	Clone_based_vega_gene	protein_coding	OTTHUMT00000335662.1	G	NM_003255		76887930	-1	no_errors	ENST00000322630	ensembl	human	putative	70_37	missense	SNP	0.000	A
PROSER2	254427	genome.wustl.edu	37	10	11911485	11911485	+	Intron	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:11911485C>A	ENST00000277570.5	+	4	545				PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_5'Flank	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2																		CCCTTGTCTTCCAGGGCCTGC	0.597																																																	0													31.0	35.0	33.0					10																	11911485		2201	4298	6499	SO:0001627	intron_variant	219731			BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.392-4C>A	10.37:g.11911485C>A			D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	RNA	SNP	-	NULL	ENST00000277570.5	37	NULL	CCDS7085.1	10																																																																																			RP11-401F24.4	-	-		0.597	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC219731	Clone_based_vega_gene	protein_coding	OTTHUMT00000090189.2	C	NM_153256		11911485	-1	no_errors	ENST00000445498	ensembl	human	known	70_37	rna	SNP	0.053	A
LINC01342	254099	genome.wustl.edu	37	1	1078148	1078148	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1078148G>A	ENST00000416774.1	+	0	332					NR_038869.1																						GTCAGGGGCCGGCTCACCCCT	0.642																																																	0																																												254099																															1.37:g.1078148G>A				RNA	SNP	-	NULL	ENST00000416774.1	37	NULL		1																																																																																			RP11-465B22.5	-	-		0.642	RP11-465B22.5-001	KNOWN	basic	lincRNA	LOC254099	Clone_based_vega_gene	lincRNA	OTTHUMT00000002221.1	G			1078148	+1	no_errors	ENST00000416774	ensembl	human	known	70_37	rna	SNP	0.014	A
METTL16	79066	genome.wustl.edu	37	17	2310167	2310167	+	IGR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2310167G>C	ENST00000609667.1	-	0	573																											TGGGATCCAGGAGCTCGCAGG	0.517																																																	0																																										SO:0001628	intergenic_variant	284009																															17.37:g.2310167G>C				RNA	SNP	-	NULL	ENST00000609667.1	37	NULL		17																																																																																			RP1-59D14.3	-	-		0.517	AC006435.1-201	KNOWN	basic|appris_principal	protein_coding	LOC284009	Clone_based_vega_gene	protein_coding		G			2310167	-1	no_errors	ENST00000571332	ensembl	human	putative	70_37	rna	SNP	0.000	C
YWHAEP7	284100	genome.wustl.edu	37	17	36214063	36214063	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36214063C>T	ENST00000590732.1	-	0	389					NR_024178.1																						AAGCTGTTCTCTGCCACCTCC	0.403																																																	0																																												284100																															17.37:g.36214063C>T				RNA	SNP	-	NULL	ENST00000590732.1	37	NULL		17																																																																																			RP11-115K3.2	-	-		0.403	RP11-115K3.2-002	KNOWN	basic	processed_transcript	LOC284100	Clone_based_vega_gene	pseudogene	OTTHUMT00000451947.1	C			36214063	-1	no_errors	ENST00000586509	ensembl	human	known	70_37	rna	SNP	1.000	T
LOC344967	344967	genome.wustl.edu	37	4	40045257	40045257	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:40045257G>A	ENST00000381811.2	-	0	892					NR_027277.1																						CTGGCTGGACGATGTCCCCGT	0.592																																																	0																																												344967																															4.37:g.40045257G>A				RNA	SNP	-	NULL	ENST00000381811.2	37	NULL		4																																																																																			RP11-333E13.4	-	-		0.592	RP11-333E13.4-002	KNOWN	basic	processed_transcript	LOC344967	Clone_based_vega_gene	pseudogene	OTTHUMT00000361278.1	G			40045257	-1	no_errors	ENST00000381811	ensembl	human	known	70_37	rna	SNP	0.001	A
RNU1-5P	107105261	genome.wustl.edu	37	1	17198686	17198686	+	lincRNA	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:17198686C>A	ENST00000362684.1	+	0	0																											GCGTCTGGGTCCTTTATGATG	0.657																																																	0																																												440570																															1.37:g.17198686C>A				RNA	SNP	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			RP11-108M9.3	-	-		0.657	U1.1-201	KNOWN	basic	snRNA	LOC440570	Clone_based_vega_gene	lincRNA		C			17198686	+1	no_errors	ENST00000438002	ensembl	human	known	70_37	rna	SNP	0.005	A
TMPRSS11F	389208	genome.wustl.edu	37	4	68928799	68928799	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:68928799G>C	ENST00000356291.2	-	8	1075				UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTGTATTCTGAACCAAGATC	0.383																																																	0													80.0	79.0	79.0					4																	68928799		2201	4299	6500	SO:0001627	intron_variant	550112			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1015+1603C>G	4.37:g.68928799G>C			A8MXX2	RNA	SNP	-	NULL	ENST00000356291.2	37	NULL	CCDS3520.1	4																																																																																			RP11-453E17.1	-	-		0.383	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC550112	Clone_based_vega_gene	protein_coding	OTTHUMT00000251439.1	G	NM_207407		68928799	+1	no_errors	ENST00000499180	ensembl	human	known	70_37	rna	SNP	0.370	C
LOC100996415	100996415	genome.wustl.edu	37	22	20343203	20343203	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:20343203C>T	ENST00000454636.1	+	0	1896				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						TACAAGGCATCGCTAACGATG	0.413																																																	0																																												729444																															22.37:g.20343203C>T				RNA	SNP	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			XXbac-B33L19.3	-	-		0.413	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC729444	Clone_based_vega_gene	antisense	OTTHUMT00000319010.2	C			20343203	+1	no_errors	ENST00000454636	ensembl	human	known	70_37	rna	SNP	0.410	T
PLPPR2	64748	genome.wustl.edu	37	19	11470166	11470166	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11470166C>T	ENST00000586431.1	+	0	417				DKFZP761J1410_ENST00000251473.5_Intron|DKFZP761J1410_ENST00000591608.1_Intron																							TGACCTCTCTCTTCTCTCTCC	0.562																																																	0													48.0	38.0	41.0					19																	11470166		2203	4300	6503	SO:0001624	3_prime_UTR_variant	64748																														ENST00000586431.1:c.*414C>T	19.37:g.11470166C>T				RNA	SNP	-	NULL	ENST00000586431.1	37	NULL		19																																																																																			LPPR2	-	-		0.562	DKFZP761J1410-005	NOVEL	basic	processed_transcript	LPPR2	Uniprot_genename	protein_coding	OTTHUMT00000458781.1	C			11470166	+1	no_errors	ENST00000586431	ensembl	human	novel	70_37	rna	SNP	0.003	T
LRIF1	55791	genome.wustl.edu	37	1	111494338	111494338	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:111494338G>C	ENST00000369763.4	-	2	1558	c.1168C>G	c.(1168-1170)Cca>Gca	p.P390A	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCTTACTGGAGTATCAGGA	0.378																																																	0													176.0	181.0	179.0					1																	111494338		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1168C>G	1.37:g.111494338G>C	ENSP00000358778:p.Pro390Ala		Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.P390A	ENST00000369763.4	37	c.1168	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766203	0.31228	.	.	ENSG00000121931	ENST00000369763	T	0.22336	1.96	5.7	3.58	0.41010	.	0.272302	0.32655	N	0.005818	T	0.09862	0.0242	L	0.27053	0.805	0.80722	D	1	P	0.50156	0.932	P	0.50659	0.647	T	0.03483	-1.1032	10	0.44086	T	0.13	-8.5656	3.6925	0.08351	0.175:0.0:0.6069:0.2181	.	390	Q5T3J3	LRIF1_HUMAN	A	390	ENSP00000358778:P390A	ENSP00000358778:P390A	P	-	1	0	LRIF1	111295861	0.925000	0.31364	1.000000	0.80357	0.962000	0.63368	1.377000	0.34317	2.705000	0.92388	0.591000	0.81541	CCA	LRIF1	-	NULL		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	G	NM_018372		111494338	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.992	C
LRP2	4036	genome.wustl.edu	37	2	169995136	169995136	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:169995136C>G	ENST00000263816.3	-	75	13754	c.13469G>C	c.(13468-13470)gGa>gCa	p.G4490A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4490					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCAGACACTCCAATATCCAT	0.408																																																	0													121.0	95.0	104.0					2																	169995136		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13469G>C	2.37:g.169995136C>G	ENSP00000263816:p.Gly4490Ala		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G4490A	ENST00000263816.3	37	c.13469	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758831	0.69763	.	.	ENSG00000081479	ENST00000263816	D	0.89681	-2.55	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	N	0.24115	0.695	0.80722	D	1	P	0.49635	0.926	P	0.44394	0.448	T	0.80841	-0.1202	10	0.11485	T	0.65	.	18.978	0.92745	0.0:1.0:0.0:0.0	.	4490	P98164	LRP2_HUMAN	A	4490	ENSP00000263816:G4490A	ENSP00000263816:G4490A	G	-	2	0	LRP2	169703382	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	4.328000	0.59253	2.558000	0.86282	0.655000	0.94253	GGA	LRP2	-	NULL		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	C	NM_004525		169995136	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170011056	170011056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170011056G>C	ENST00000263816.3	-	66	12494	c.12209C>G	c.(12208-12210)tCa>tGa	p.S4070*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4070					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCTCTCAGATGAGAGATTATA	0.383																																																	0													82.0	82.0	82.0					2																	170011056		2203	4300	6503	SO:0001587	stop_gained	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12209C>G	2.37:g.170011056G>C	ENSP00000263816:p.Ser4070*		O00711|Q16215	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4070*	ENST00000263816.3	37	c.12209	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	55	23.956529	0.99958	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.7	5.7	0.88788	.	0.058797	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.8457	0.96706	0.0:0.0:1.0:0.0	.	.	.	.	X	4070	.	ENSP00000263816:S4070X	S	-	2	0	LRP2	169719302	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	9.605000	0.98321	2.662000	0.90505	0.655000	0.94253	TCA	LRP2	-	superfamily_Growth_fac_rcpt		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170011056	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	nonsense	SNP	1.000	C
LRP5	4041	genome.wustl.edu	37	11	68173992	68173992	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68173992G>A	ENST00000294304.7	+	9	1908	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	601	Beta-propeller 2.|EGF-like 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGCTTCCAGGAACCAACCCG	0.627																																																	0													58.0	59.0	59.0					11																	68173992		2200	4294	6494	SO:0001630	splice_region_variant	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1802-1G>A	11.37:g.68173992G>A			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G601E	ENST00000294304.7	37	c.1802	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633593	0.67015	.	.	ENSG00000162337	ENST00000294304	D	0.95447	-3.71	4.11	4.11	0.48088	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48286	U	0.000200	D	0.97717	0.9251	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.98147	1.0439	9	.	.	.	.	16.9499	0.86242	0.0:0.0:1.0:0.0	.	601;601	Q9UES7;O75197	.;LRP5_HUMAN	E	601	ENSP00000294304:G601E	.	G	+	2	0	LRP5	67930568	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	9.335000	0.96500	2.304000	0.77564	0.555000	0.69702	GGA	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	G	NM_002335	Missense_Mutation	68173992	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC37A16P	651250	genome.wustl.edu	37	17	66137465	66137465	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:66137465C>T	ENST00000590019.1	-	0	182									leucine rich repeat containing 37, member A16, pseudogene																		TACGGATCTTCAACAGCTGTC	0.338																																																	0																																												651250					17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66137465C>T				RNA	SNP	-	NULL	ENST00000590019.1	37	NULL		17																																																																																			LRRC37A16P	-	-		0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	LRRC37A16P	HGNC	pseudogene	OTTHUMT00000450078.1	C			66137465	-1	no_errors	ENST00000590019	ensembl	human	known	70_37	rna	SNP	0.124	T
LRRC41	10489	genome.wustl.edu	37	1	46745946	46745946	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:46745946C>G	ENST00000343304.6	-	7	2223	c.1938G>C	c.(1936-1938)ctG>ctC	p.L646L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	646					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCAGTCTTTTCAGGGCTAGGT	0.493																																																	0													127.0	117.0	120.0					1																	46745946		2203	4300	6503	SO:0001819	synonymous_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1938G>C	1.37:g.46745946C>G			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L646	ENST00000343304.6	37	c.1938	CCDS533.1	1																																																																																			LRRC41	-	NULL		0.493	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46745946	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	silent	SNP	0.999	G
LRRC42	115353	genome.wustl.edu	37	1	54417789	54417789	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:54417789G>A	ENST00000371370.3	+	3	638	c.117G>A	c.(115-117)caG>caA	p.Q39Q	LRRC42_ENST00000319223.4_Silent_p.Q39Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	39										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTAGCCTGCAGAAGCCAAGGC	0.522																																																	0													79.0	79.0	79.0					1																	54417789		2203	4300	6503	SO:0001819	synonymous_variant	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.117G>A	1.37:g.54417789G>A			D3DQ46|Q8N2Q8	Silent	SNP	NULL	p.Q39	ENST00000371370.3	37	c.117	CCDS585.1	1																																																																																			LRRC42	-	NULL		0.522	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	G	NM_052940		54417789	+1	no_errors	ENST00000319223	ensembl	human	known	70_37	silent	SNP	0.985	A
LRRC58	116064	genome.wustl.edu	37	3	120067653	120067653	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:120067653C>G	ENST00000295628.3	-	1	533	c.438G>C	c.(436-438)caG>caC	p.Q146H	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	146										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GGCTCAGGGTCTGCAGCGCGC	0.672																																																	0													13.0	16.0	15.0					3																	120067653		1979	4171	6150	SO:0001583	missense	116064			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.438G>C	3.37:g.120067653C>G	ENSP00000295628:p.Gln146His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q146H	ENST00000295628.3	37	c.438	CCDS46892.1	3	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595911	0.46318	.	.	ENSG00000163428	ENST00000295628	T	0.10005	2.92	4.69	1.71	0.24356	.	0.176493	0.51477	N	0.000086	T	0.15262	0.0368	M	0.66939	2.045	0.50467	D	0.999873	B	0.09022	0.002	B	0.10450	0.005	T	0.13202	-1.0518	10	0.62326	D	0.03	-2.2372	16.3252	0.82977	0.0:0.4967:0.5033:0.0	.	146	Q96CX6	LRC58_HUMAN	H	146	ENSP00000295628:Q146H	ENSP00000295628:Q146H	Q	-	3	2	LRRC58	121550343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.108000	0.31123	0.244000	0.21351	0.655000	0.94253	CAG	LRRC58	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.672	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	HGNC	protein_coding	OTTHUMT00000355142.1	C	XM_057296		120067653	-1	no_errors	ENST00000295628	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC63	220416	genome.wustl.edu	37	13	46824540	46824540	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:46824540C>T	ENST00000595396.1	+	6	1140	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	LRRC63_ENST00000446175.1_Silent_p.I380I|RN7SKP5_ENST00000517045.1_RNA			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	380										lung(1)|ovary(1)	2						ATAATCCTATCAAAGAAATTC	0.299																																																	0																																										SO:0001819	synonymous_variant	220416				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1140C>T	13.37:g.46824540C>T			Q5TBN0	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I380	ENST00000595396.1	37	c.1140		13																																																																																			LRRC63	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.299	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	HGNC	protein_coding	OTTHUMT00000463266.1	C	XM_001718341		46824540	+1	no_errors	ENST00000446175	ensembl	human	known	70_37	silent	SNP	1.000	T
LRRC63	220416	genome.wustl.edu	37	13	46824562	46824562	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:46824562C>G	ENST00000595396.1	+	6	1162	c.1162C>G	c.(1162-1164)Caa>Gaa	p.Q388E	LRRC63_ENST00000446175.1_Missense_Mutation_p.Q388E|RN7SKP5_ENST00000517045.1_RNA			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	388										lung(1)|ovary(1)	2						TTCTGAAATTCAACAACTTGA	0.289																																																	0																																										SO:0001583	missense	220416				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1162C>G	13.37:g.46824562C>G	ENSP00000469337:p.Gln388Glu		Q5TBN0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q388E	ENST00000595396.1	37	c.1162		13	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375595	0.24857	.	.	ENSG00000173988	ENST00000378805;ENST00000446175	T;T	0.00940	5.52;5.52	5.65	0.405	0.16361	.	.	.	.	.	T	0.00637	0.0021	N	0.10916	0.065	0.09310	N	1	P	0.43542	0.81	B	0.43478	0.421	T	0.47209	-0.9135	9	0.13470	T	0.59	-4.5584	4.2093	0.10503	0.3982:0.4042:0.118:0.0796	.	388	Q05C16	LRC63_HUMAN	E	388	ENSP00000368082:Q388E;ENSP00000408828:Q388E	ENSP00000368082:Q388E	Q	+	1	0	LRRC63	45722563	0.093000	0.21703	0.435000	0.26784	0.874000	0.50279	0.021000	0.13489	0.275000	0.22094	0.655000	0.94253	CAA	LRRC63	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.289	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	HGNC	protein_coding	OTTHUMT00000463266.1	C	XM_001718341		46824562	+1	no_errors	ENST00000446175	ensembl	human	known	70_37	missense	SNP	0.026	G
LRSAM1	90678	genome.wustl.edu	37	9	130257502	130257502	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130257502G>A	ENST00000323301.4	+	21	2203				LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Intron|LRSAM1_ENST00000373322.1_Intron|LRSAM1_ENST00000483302.1_Intron	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1						cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						aaagtgctgggattacaggca	0.512																																																	0																																										SO:0001627	intron_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1600-97G>A	9.37:g.130257502G>A			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	RNA	SNP	-	NULL	ENST00000323301.4	37	NULL	CCDS6873.1	9																																																																																			LRSAM1	-	-		0.512	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130257502	+1	no_errors	ENST00000472592	ensembl	human	known	70_37	rna	SNP	0.001	A
LSM4	25804	genome.wustl.edu	37	19	18418061	18418061	+	3'UTR	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18418061C>A	ENST00000593829.1	-	0	886				LSM4_ENST00000252816.6_3'UTR	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						ACGGCCGTTTCACAAAACCAA	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	25804			AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.*213G>T	19.37:g.18418061C>A				RNA	SNP	-	NULL	ENST00000593829.1	37	NULL	CCDS12374.1	19																																																																																			LSM4	-	-		0.478	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM4	HGNC	protein_coding	OTTHUMT00000466321.1	C			18418061	-1	no_errors	ENST00000252816	ensembl	human	known	70_37	rna	SNP	0.099	A
LSM14A	26065	genome.wustl.edu	37	19	34712417	34712417	+	Missense_Mutation	SNP	G	G	A	rs201032730		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:34712417G>A	ENST00000433627.5	+	9	1217	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	LSM14A_ENST00000540746.2_Missense_Mutation_p.R340Q|LSM14A_ENST00000544216.3_Missense_Mutation_p.R381Q	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	381					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATAGAGAACGGAGACCAACC	0.423																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1142,1142	4.9	1.0	19		49	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LSM14A	NM_001114093.1,NM_015578.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	381/464,381/464	34712417	1,13005	2203	4300	6503	SO:0001583	missense	26065			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1142G>A	19.37:g.34712417G>A	ENSP00000413964:p.Arg381Gln		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.R381Q	ENST00000433627.5	37	c.1142	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	g	23.6	4.429957	0.83776	0.0	1.16E-4	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32023	1.47;1.47;1.49	5.96	4.93	0.64822	FFD/TFG box motif (1);	0.055636	0.64402	N	0.000001	T	0.16727	0.0402	N	0.11255	0.115	0.54753	D	0.999983	P;P;P	0.42757	0.789;0.496;0.643	B;B;B	0.38264	0.269;0.062;0.106	T	0.06006	-1.0851	10	0.15066	T	0.55	-1.8085	15.0274	0.71680	0.0679:0.0:0.9321:0.0	.	340;381;381	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	Q	381;381;340	ENSP00000446271:R381Q;ENSP00000413964:R381Q;ENSP00000446451:R340Q	ENSP00000314768:R381Q	R	+	2	0	LSM14A	39404257	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	7.521000	0.81832	1.533000	0.49186	0.655000	0.94253	CGG	LSM14A	-	NULL		0.423	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	G	NM_015578		34712417	+1	no_errors	ENST00000433627	ensembl	human	known	70_37	missense	SNP	0.993	A
LSS	4047	genome.wustl.edu	37	21	47635106	47635106	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:47635106G>C	ENST00000397728.3	-	9	1077	c.999C>G	c.(997-999)atC>atG	p.I333M	LSS_ENST00000356396.4_Missense_Mutation_p.I333M|LSS_ENST00000457828.2_Missense_Mutation_p.I253M|LSS_ENST00000522411.1_Missense_Mutation_p.I322M|LSS_ENST00000464357.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	333					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGCCGATGCTGATGCTCTTGG	0.632																																					Pancreas(114;955 2313 34923 50507)												0													77.0	71.0	73.0					21																	47635106		2203	4300	6503	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.999C>G	21.37:g.47635106G>C	ENSP00000380837:p.Ile333Met		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.I333M	ENST00000397728.3	37	c.999	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089932	0.76756	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.68	2.88	0.33553	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (2);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.89904	3.07	0.54753	D	0.999985	D;D	0.76494	0.999;0.998	D;D	0.73380	0.98;0.955	T	0.70270	-0.4918	10	0.66056	D	0.02	.	8.8204	0.35023	0.1374:0.1244:0.7382:0.0	.	322;333	E9PEI9;P48449	.;ERG7_HUMAN	M	333;253;333;322	ENSP00000348762:I333M;ENSP00000409191:I253M;ENSP00000380837:I333M;ENSP00000429133:I322M	ENSP00000348762:I333M	I	-	3	3	LSS	46459534	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	5.562000	0.67346	0.328000	0.23435	0.555000	0.69702	ATC	LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase		0.632	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	G			47635106	-1	no_errors	ENST00000356396	ensembl	human	known	70_37	missense	SNP	1.000	C
LURAP1L	286343	genome.wustl.edu	37	9	12775994	12775994	+	Missense_Mutation	SNP	G	G	C	rs202014896		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:12775994G>C	ENST00000319264.3	+	1	975	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	97																	GGAGAGGCTAGAAACCAAGCT	0.627																																																	0													19.0	14.0	16.0					9																	12775994		2197	4295	6492	SO:0001583	missense	286343			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.280G>C	9.37:g.12775994G>C	ENSP00000321026:p.Glu94Gln		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	NULL	p.E94Q	ENST00000319264.3	37	c.280	CCDS6473.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201065	0.79015	.	.	ENSG00000153714	ENST00000319264	T	0.47528	0.84	5.1	5.1	0.69264	.	2.348820	0.02174	N	0.059963	T	0.64681	0.2620	L	0.34521	1.04	0.40706	D	0.982524	D	0.67145	0.996	D	0.75484	0.986	T	0.44757	-0.9307	10	0.40728	T	0.16	.	15.4289	0.75077	0.0:0.0:1.0:0.0	.	97	Q8IV03	CI150_HUMAN	Q	94	ENSP00000321026:E94Q	ENSP00000321026:E94Q	E	+	1	0	C9orf150	12765994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.377000	0.59562	2.378000	0.81104	0.484000	0.47621	GAA	LURAP1L	-	NULL		0.627	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LURAP1L	HGNC	protein_coding	OTTHUMT00000051730.1	G	NM_203403		12775994	+1	no_errors	ENST00000319264	ensembl	human	known	70_37	missense	SNP	1.000	C
LY6G5B	58496	genome.wustl.edu	37	6	31638730	31638730	+	Start_Codon_SNP	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31638730G>C	ENST00000375864.4	+	1	787	c.3G>C	c.(1-3)atG>atC	p.M1I	CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|LY6G5B_ENST00000409525.1_5'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	1						extracellular region (GO:0005576)				lung(4)	4						ATTCCAAAATGAAGGTCCATA	0.547																																																	0													186.0	164.0	171.0					6																	31638730		2203	4300	6503	SO:0001582	initiator_codon_variant	58496			AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.3G>C	6.37:g.31638730G>C	ENSP00000365024:p.Met1Ile		B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	NULL	p.M1I	ENST00000375864.4	37	c.3	CCDS34400.1	6	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482416	0.26598	.	.	ENSG00000240053	ENST00000375864	T	0.25749	1.78	4.63	3.76	0.43208	.	.	.	.	.	T	0.10895	0.0266	.	.	.	.	.	.	P	0.36909	0.573	B	0.36666	0.23	T	0.07290	-1.0780	7	0.62326	D	0.03	-39.0706	8.9837	0.35980	0.1018:0.0:0.8982:0.0	.	1	Q8NDX9	LY65B_HUMAN	I	1	ENSP00000365024:M1I	ENSP00000365024:M1I	M	+	3	0	LY6G5B	31746709	0.997000	0.39634	0.018000	0.16275	0.003000	0.03518	4.082000	0.57635	1.318000	0.45170	-0.291000	0.09656	ATG	LY6G5B	-	NULL		0.547	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G5B	HGNC	protein_coding	OTTHUMT00000124389.4	G		Missense_Mutation	31638730	+1	no_errors	ENST00000375864	ensembl	human	known	70_37	missense	SNP	0.048	C
LYPD6	130574	genome.wustl.edu	37	2	150327251	150327251	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:150327251G>A	ENST00000334166.4	+	5	660	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	LYPD6_ENST00000409381.1_Missense_Mutation_p.E135K	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	135	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		GCCCCGAAATGAAACTGATGC	0.443																																																	0													256.0	221.0	233.0					2																	150327251		2203	4300	6503	SO:0001583	missense	130574			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.403G>A	2.37:g.150327251G>A	ENSP00000334463:p.Glu135Lys		B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	pfam_LY6_UPAR	p.E135K	ENST00000334166.4	37	c.403	CCDS2188.1	2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463260	0.63513	.	.	ENSG00000187123	ENST00000409381;ENST00000334166	T;T	0.13538	2.58;2.58	5.18	5.18	0.71444	Ly-6 antigen / uPA receptor -like (1);	0.314836	0.38111	N	0.001805	T	0.15955	0.0384	L	0.47716	1.5	0.58432	D	0.999999	B	0.33266	0.404	B	0.33620	0.167	T	0.01863	-1.1258	10	0.49607	T	0.09	-24.6863	16.2173	0.82238	0.0:0.0:1.0:0.0	.	135	Q86Y78	LYPD6_HUMAN	K	135	ENSP00000386413:E135K;ENSP00000334463:E135K	ENSP00000334463:E135K	E	+	1	0	LYPD6	150035497	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.848000	0.69458	2.686000	0.91538	0.655000	0.94253	GAA	LYPD6	-	NULL		0.443	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD6	HGNC	protein_coding	OTTHUMT00000254800.2	G	NM_194317		150327251	+1	no_errors	ENST00000334166	ensembl	human	known	70_37	missense	SNP	1.000	A
MAB21L1	4081	genome.wustl.edu	37	13	36050012	36050012	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:36050012G>A	ENST00000379919.4	-	1	820	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	88					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CATCGTCCACGAAGTTGAACA	0.577																																																	0													83.0	83.0	83.0					13																	36050012		2203	4300	6503	SO:0001819	synonymous_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.264C>T	13.37:g.36050012G>A			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.F88	ENST00000379919.4	37	c.264	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom		0.577	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	G	NM_005584		36050012	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	silent	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39853530	39853530	+	Nonsense_Mutation	SNP	G	G	T	rs372693965		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:39853530G>T	ENST00000372915.3	+	57	15118	c.15031G>T	c.(15031-15033)Gaa>Taa	p.E5011*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3446*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E2944*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E2923*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5043*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E2944*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E5006*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E2944*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5011					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCACTCGAAGAAATGAC	0.463																																																	0													66.0	68.0	67.0					1																	39853530		2203	4300	6503	SO:0001587	stop_gained	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15031G>T	1.37:g.39853530G>T	ENSP00000362006:p.Glu5011*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2944*	ENST00000372915.3	37	c.8830		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.698022|12.698022	0.99689|0.99689	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.088183|.	0.49305|.	D|.	0.000160|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.31617|.	T|.	0.26|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2944;5011;2944;2944;2923;3446|2056	.|.	ENSP00000289893:E3446X|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39626117|39626117	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.974000|0.974000	0.67602|0.67602	9.750000|9.750000	0.98875|0.98875	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39853530	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MAD2L1BP	9587	genome.wustl.edu	37	6	43608105	43608105	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43608105C>T	ENST00000372171.4	+	3	717	c.660C>T	c.(658-660)aaC>aaT	p.N220N	MAD2L1BP_ENST00000451025.2_Silent_p.N252N	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	220					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACACCGCAACTGTGGAGAAG	0.567																																																	0													53.0	45.0	48.0					6																	43608105		2203	4300	6503	SO:0001819	synonymous_variant	9587			BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.660C>T	6.37:g.43608105C>T			B4DLV3|E9PAT7|Q6IBB1	Silent	SNP	pfam_MAD1/Cdc20-bound-Mad2-bd	p.N252	ENST00000372171.4	37	c.756	CCDS4904.1	6																																																																																			MAD2L1BP	-	pfam_MAD1/Cdc20-bound-Mad2-bd		0.567	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1BP	HGNC	protein_coding	OTTHUMT00000040692.2	C	NM_014628		43608105	+1	no_errors	ENST00000451025	ensembl	human	known	70_37	silent	SNP	0.993	T
MYBPC3	4607	genome.wustl.edu	37	11	47350214	47350214	+	IGR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:47350214G>A	ENST00000545968.1	-	0	4217				MADD_ENST00000311027.5_Missense_Mutation_p.E1600K|MADD_ENST00000407859.3_Missense_Mutation_p.E1518K|MADD_ENST00000342922.4_Missense_Mutation_p.E1541K|MADD_ENST00000402799.1_Missense_Mutation_p.E1498K|MADD_ENST00000349238.3_Missense_Mutation_p.E1561K|MADD_ENST00000406482.1_Silent_p.L1474L|MADD_ENST00000402192.2_Missense_Mutation_p.E1540K|MADD_ENST00000395336.3_Silent_p.L1576L|MADD_ENST00000395344.3_Missense_Mutation_p.E1494K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTTAGTTCCTGAAATTAAAGA	0.577																																																	0													102.0	86.0	91.0					11																	47350214		2201	4298	6499	SO:0001628	intergenic_variant	8567			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350214G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1600K	ENST00000545968.1	37	c.4798	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934749	0.52866	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.04454	3.74;3.62;3.75;3.63;3.62;3.62;3.74	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	N	0.02225	-0.63	0.80722	D	1	P;P;P;D;D;D;D	0.76494	0.615;0.671;0.734;0.999;0.999;0.997;0.999	B;B;B;D;D;D;D	0.83275	0.1;0.134;0.203;0.996;0.994;0.991;0.996	T	0.47674	-0.9099	10	0.02654	T	1	-17.1731	20.1363	0.98032	0.0:0.0:1.0:0.0	.	1494;1494;1498;1561;1518;1600;1541	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	K	1541;1498;1561;1600;1518;1494;1540	ENSP00000343902:E1541K;ENSP00000385585:E1498K;ENSP00000304505:E1561K;ENSP00000310933:E1600K;ENSP00000384204:E1518K;ENSP00000378753:E1494K;ENSP00000384287:E1540K	ENSP00000310933:E1600K	E	+	1	0	MADD	47306790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.167000	0.94773	2.774000	0.95407	0.484000	0.47621	GAA	MADD	-	NULL		0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000392271.3	G			47350214	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A
MAEA	10296	genome.wustl.edu	37	4	1316232	1316232	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:1316232G>A	ENST00000303400.4	+	4	583	c.520G>A	c.(520-522)Gag>Aag	p.E174K	MAEA_ENST00000510794.1_Missense_Mutation_p.E173K|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.E126K|MAEA_ENST00000452175.2_Missense_Mutation_p.E95K|MAEA_ENST00000505177.2_Missense_Mutation_p.E174K	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	174	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GGAGAGGCGTGAGACGGCCAC	0.597																																																	0													84.0	85.0	84.0					4																	1316232		2203	4300	6503	SO:0001583	missense	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.520G>A	4.37:g.1316232G>A	ENSP00000302830:p.Glu174Lys		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E174K	ENST00000303400.4	37	c.520	CCDS33936.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.088093	0.97271	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.47528	0.91;0.89;0.84;0.86;0.9;0.91	5.94	5.94	0.96194	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	L	0.58810	1.83	0.80722	D	1	D;P;P	0.59767	0.986;0.909;0.647	P;P;P	0.61003	0.882;0.837;0.688	T	0.61783	-0.6992	10	0.49607	T	0.09	-26.9369	20.3544	0.98835	0.0:0.0:1.0:0.0	.	173;174;174	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	K	174;174;174;153;106;95;173;126	ENSP00000302830:E174K;ENSP00000422215:E174K;ENSP00000421644:E174K;ENSP00000426903:E106K;ENSP00000411415:E95K;ENSP00000426807:E173K	ENSP00000302830:E174K	E	+	1	0	MAEA	1306232	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	9.307000	0.96226	2.817000	0.96982	0.655000	0.94253	GAG	MAEA	-	smart_CTLH_C,pfscan_CTLH_C		0.597	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	G	NM_005882		1316232	+1	no_errors	ENST00000303400	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEA8	4107	genome.wustl.edu	37	X	149013328	149013328	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:149013328G>T	ENST00000542674.1	+	3	803	c.282G>T	c.(280-282)ggG>ggT	p.G94G	MAGEA8_ENST00000535454.1_Silent_p.G94G|MAGEA8_ENST00000286482.1_Silent_p.G94G|MAGEA8_ENST00000493910.1_3'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	94										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGAGGGGCCAAGCACCT	0.582																																																	0													83.0	80.0	81.0					X																	149013328		2203	4298	6501	SO:0001819	synonymous_variant	4107				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.282G>T	X.37:g.149013328G>T			Q9BUN9	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G94	ENST00000542674.1	37	c.282	CCDS14692.1	X																																																																																			MAGEA8	-	pfam_Melanoma_ass_antigen_N		0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	G	NM_005364		149013328	+1	no_errors	ENST00000286482	ensembl	human	known	70_37	silent	SNP	0.008	T
MAGEL2	54551	genome.wustl.edu	37	15	23890745	23890745	+	Missense_Mutation	SNP	C	C	T	rs369371337		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:23890745C>T	ENST00000532292.1	-	1	430	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGATGGAGTCATCAATGATT	0.612																																																	0									ILE/MET	0,3710		0,0,1855	20.0	20.0	20.0		2145	3.8	1.0	15		20	1,8193		0,1,4096	no	missense	MAGEL2	NM_019066.4	10	0,1,5951	TT,TC,CC		0.0122,0.0,0.0084	benign	715/1250	23890745	1,11903	1855	4097	5952	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.336G>A	15.37:g.23890745C>T	ENSP00000433433:p.Met112Ile			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M112I	ENST00000532292.1	37	c.336		15																																																																																			MAGEL2	-	NULL		0.612	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23890745	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.992	T
MAGI1	9223	genome.wustl.edu	37	3	65415613	65415613	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:65415613C>T	ENST00000497477.2	-	12	1748	c.1749G>A	c.(1747-1749)gtG>gtA	p.V583V	MAGI1_ENST00000470990.1_5'Flank|MAGI1_ENST00000330909.8_Silent_p.V583V|MAGI1_ENST00000402939.2_Silent_p.V583V|MAGI1_ENST00000483466.1_Silent_p.V583V			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	583					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)		CTTGCCCATTCACAATAATTG	0.473																																																	0													137.0	125.0	129.0					3																	65415613		2203	4300	6503	SO:0001819	synonymous_variant	9223			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.1749G>A	3.37:g.65415613C>T			A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.V583	ENST00000497477.2	37	c.1749		3																																																																																			MAGI1	-	NULL		0.473	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	C	NM_004742		65415613	-1	no_errors	ENST00000402939	ensembl	human	known	70_37	silent	SNP	1.000	T
MAGT1	84061	genome.wustl.edu	37	X	77150956	77150956	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:77150956G>A	ENST00000358075.6	-	1	134	c.48C>T	c.(46-48)ctC>ctT	p.L16L	MAGT1_ENST00000373336.3_5'Flank	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	0					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCTAGGTCTGAGGGTGGGGC	0.597																																																	0													70.0	48.0	55.0					X																	77150956		2202	4294	6496	SO:0001819	synonymous_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.48C>T	X.37:g.77150956G>A			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.L16	ENST00000358075.6	37	c.48	CCDS14436.2	X																																																																																			MAGT1	-	NULL		0.597	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	G	NM_032121		77150956	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	silent	SNP	0.008	A
MAMLD1	10046	genome.wustl.edu	37	X	149680410	149680410	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:149680410G>C	ENST00000370401.2	+	0	2816				MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q688H|MAMLD1_ENST00000426613.2_3'UTR|MAMLD1_ENST00000262858.5_3'UTR|MAMLD1_ENST00000455522.2_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCACCAGAGCTGCGAGG	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*181G>C	X.37:g.149680410G>C			B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q688H	ENST00000370401.2	37	c.2064	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613042	0.46631	.	.	ENSG00000013619	ENST00000432680	T	0.67698	-0.28	4.8	1.91	0.25777	.	.	.	.	.	T	0.52805	0.1757	L	0.34521	1.04	0.18873	N	0.999985	B	0.26809	0.16	B	0.25291	0.059	T	0.36578	-0.9742	9	0.37606	T	0.19	0.4688	9.2695	0.37661	0.078:0.2661:0.6559:0.0	.	688	Q13495-3	.	H	688	ENSP00000414517:Q688H	ENSP00000414517:Q688H	Q	+	3	2	MAMLD1	149431068	0.658000	0.27402	0.000000	0.03702	0.020000	0.10135	0.406000	0.21032	-0.026000	0.13895	0.513000	0.50165	CAG	MAMLD1	-	NULL		0.567	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	G	NM_005491		149680410	+1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.126	C
MANF	7873	genome.wustl.edu	37	3	51423719	51423719	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:51423719G>C	ENST00000528157.1	+	2	471	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	59					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						TATTGAAAACGAACTTATAAA	0.478																																																	0													69.0	69.0	69.0					3																	51423719		1893	4123	6016	SO:0001583	missense	7873			M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"""arginine-rich, mutated in early stage tumors"""	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.175G>C	3.37:g.51423719G>C	ENSP00000432799:p.Glu59Gln		Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	pfam_Armet_prot,superfamily_Saposin-like	p.E59Q	ENST00000528157.1	37	c.175	CCDS46836.2	3	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428143	0.83667	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.41	5.41	0.78517	.	0.051123	0.85682	D	0.000000	T	0.78162	0.4240	M	0.77313	2.365	0.54753	D	0.999984	P	0.50369	0.934	P	0.60886	0.88	T	0.75642	-0.3247	9	0.31617	T	0.26	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	59	P55145	MANF_HUMAN	Q	59;62	.	ENSP00000273628:E62Q	E	+	1	0	MANF	51398759	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	7.179000	0.77665	2.540000	0.85666	0.563000	0.77884	GAA	MANF	-	pfam_Armet_prot,superfamily_Saposin-like		0.478	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANF	HGNC	protein_coding	OTTHUMT00000346490.3	G	NM_006010		51423719	+1	no_errors	ENST00000528157	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP1B	4131	genome.wustl.edu	37	5	71491658	71491658	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:71491658G>C	ENST00000296755.7	+	5	2774	c.2476G>C	c.(2476-2478)Gag>Cag	p.E826Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	826					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)			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)		ACTCGAAGCTGAGAGGTCCCT	0.537																																					Melanoma(17;367 822 11631 31730 47712)												0													73.0	74.0	74.0					5																	71491658		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.2476G>C	5.37:g.71491658G>C	ENSP00000296755:p.Glu826Gln		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E826Q	ENST00000296755.7	37	c.2476	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411084	0.42817	.	.	ENSG00000131711	ENST00000296755	T	0.03181	4.02	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.12944	0.0314	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66716	0.946;0.946	T	0.00807	-1.1558	10	0.59425	D	0.04	-22.6437	19.4736	0.94973	0.0:0.0:1.0:0.0	.	700;826	A2BDK6;P46821	.;MAP1B_HUMAN	Q	826	ENSP00000296755:E826Q	ENSP00000296755:E826Q	E	+	1	0	MAP1B	71527414	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	9.407000	0.97325	2.596000	0.87737	0.591000	0.81541	GAG	MAP1B	-	NULL		0.537	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71491658	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP1S	55201	genome.wustl.edu	37	19	17838524	17838524	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17838524G>A	ENST00000324096.4	+	5	2482	c.2331G>A	c.(2329-2331)ctG>ctA	p.L777L	MAP1S_ENST00000544059.2_Silent_p.L751L|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	777	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGGTGGGCTGGGGGCCGAGG	0.687																																																	0													19.0	20.0	19.0					19																	17838524		2194	4294	6488	SO:0001819	synonymous_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2331G>A	19.37:g.17838524G>A			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	NULL	p.L777	ENST00000324096.4	37	c.2331	CCDS32954.1	19																																																																																			MAP1S	-	NULL		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17838524	+1	no_errors	ENST00000324096	ensembl	human	known	70_37	silent	SNP	0.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56155681	56155681	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:56155681C>T	ENST00000399503.3	+	3	773	c.773C>T	c.(772-774)tCa>tTa	p.S258L	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	258					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AACTCCCCATCAGGTCGCACA	0.468																																																	0													39.0	40.0	40.0					5																	56155681		1912	4126	6038	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.773C>T	5.37:g.56155681C>T	ENSP00000382423:p.Ser258Leu			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S258L	ENST00000399503.3	37	c.773	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033222	0.75504	.	.	ENSG00000095015	ENST00000399503	T	0.69926	-0.44	5.72	5.72	0.89469	.	0.319686	0.29791	N	0.011188	T	0.56645	0.1999	L	0.29908	0.895	0.58432	D	0.999996	P	0.43094	0.799	B	0.35039	0.194	T	0.63686	-0.6581	10	0.72032	D	0.01	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	258	Q13233	M3K1_HUMAN	L	258	ENSP00000382423:S258L	ENSP00000382423:S258L	S	+	2	0	MAP3K1	56191438	0.999000	0.42202	0.169000	0.22859	0.964000	0.63967	6.180000	0.71981	2.865000	0.98341	0.655000	0.94253	TCA	MAP3K1	-	NULL		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	C	XM_042066		56155681	+1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	0.915	T
MAP3K19	80122	genome.wustl.edu	37	2	135738993	135738993	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135738993C>G	ENST00000375845.3	-	9	3348	c.3318G>C	c.(3316-3318)cgG>cgC	p.R1106R	MAP3K19_ENST00000392917.3_Silent_p.R238R|MAP3K19_ENST00000358371.4_Silent_p.R993R|MAP3K19_ENST00000375844.3_Silent_p.R288R|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CCTGTAGTTTCCGGTATTCCT	0.413																																																	0													123.0	111.0	115.0					2																	135738993		2203	4300	6503	SO:0001819	synonymous_variant	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3318G>C	2.37:g.135738993C>G			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R1106	ENST00000375845.3	37	c.3318	CCDS2176.2	2																																																																																			MAP3K19	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	C	NM_025052		135738993	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	silent	SNP	0.982	G
MAP3K19	80122	genome.wustl.edu	37	2	135744028	135744028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135744028G>C	ENST00000375845.3	-	7	2444	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.S692*|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.S822*|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	805							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGATAAATCTGAGACAGGAGG	0.398																																																	0													70.0	69.0	69.0					2																	135744028		2203	4300	6503	SO:0001587	stop_gained	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2414C>G	2.37:g.135744028G>C	ENSP00000365005:p.Ser805*		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S805*	ENST00000375845.3	37	c.2414	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.328941	0.95733	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	.	.	.	4.67	3.8	0.43715	.	0.000000	0.38217	N	0.001776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.1686	0.48558	0.0855:0.0:0.9145:0.0	.	.	.	.	X	805;692;822;195	.	ENSP00000351140:S692X	S	-	2	0	YSK4	135460498	1.000000	0.71417	0.985000	0.45067	0.323000	0.28346	4.387000	0.59626	1.182000	0.42928	0.462000	0.41574	TCA	MAP3K19	-	NULL		0.398	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135744028	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	nonsense	SNP	0.997	C
MAP3K5	4217	genome.wustl.edu	37	6	136934374	136934374	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:136934374G>A	ENST00000359015.4	-	17	2659	c.2299C>T	c.(2299-2301)Cgt>Tgt	p.R767C	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R14C	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CATTTGGAACGAAGGAGAGCA	0.318																																																	0													89.0	84.0	86.0					6																	136934374		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2299C>T	6.37:g.136934374G>A	ENSP00000351908:p.Arg767Cys		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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.R767C	ENST00000359015.4	37	c.2299	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684138	0.68157	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66815	-0.23;-0.23	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101256	0.64402	D	0.000003	T	0.75236	0.3822	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.76575	0.988;0.896	T	0.78011	-0.2371	10	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.7227:0.2773	.	847;767	Q59GL6;Q99683	.;M3K5_HUMAN	C	767;14;847	ENSP00000351908:R767C;ENSP00000348104:R14C	ENSP00000348104:R14C	R	-	1	0	MAP3K5	136976067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.620000	0.36976	2.667000	0.90743	0.655000	0.94253	CGT	MAP3K5	-	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		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	G			136934374	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	0.997	A
MAPKAPK3	7867	genome.wustl.edu	37	3	50684590	50684590	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:50684590G>A	ENST00000446044.1	+	12	1548	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.A318T	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	318	Autoinhibitory helix. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		ACTCCACACGGCCCGAGTGCT	0.602																																																	0													47.0	43.0	44.0					3																	50684590		2192	4291	6483	SO:0001583	missense	7867			U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.952G>A	3.37:g.50684590G>A	ENSP00000396467:p.Ala318Thr		B5BU67	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A318T	ENST00000446044.1	37	c.952	CCDS2832.1	3	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342196	0.61073	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.48836	0.8;0.8;0.8	6.04	6.04	0.98038	Protein kinase-like domain (1);	0.127606	0.53938	D	0.000051	T	0.35422	0.0931	N	0.12471	0.22	0.50632	D	0.999885	B	0.17268	0.021	B	0.15484	0.013	T	0.07927	-1.0747	10	0.40728	T	0.16	-33.3334	20.1896	0.98226	0.0:0.0:1.0:0.0	.	318	Q16644	MAPK3_HUMAN	T	318	ENSP00000396467:A318T;ENSP00000410970:A318T;ENSP00000350639:A318T	ENSP00000350639:A318T	A	+	1	0	MAPKAPK3	50659594	0.694000	0.27738	0.998000	0.56505	0.652000	0.38707	2.494000	0.45329	2.873000	0.98535	0.561000	0.74099	GCC	MAPKAPK3	-	superfamily_Kinase-like_dom		0.602	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAPKAPK3	HGNC	protein_coding	OTTHUMT00000346237.1	G	NM_004635		50684590	+1	no_errors	ENST00000357955	ensembl	human	known	70_37	missense	SNP	0.997	A
MAST1	22983	genome.wustl.edu	37	19	12954416	12954416	+	Missense_Mutation	SNP	G	G	A	rs138461183	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12954416G>A	ENST00000251472.4	+	4	361	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	MAST1_ENST00000591495.1_Missense_Mutation_p.V104I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.V108I(4)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGTTCCACCGTCTCGGTGAG	0.652																																																	4	Substitution - Missense(4)	prostate(4)						G	ILE/VAL	0,4406		0,0,2203	58.0	46.0	50.0		322	4.4	0.9	19	dbSNP_134	50	4,8596	3.0+/-9.4	0,4,4296	yes	missense	MAST1	NM_014975.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	108/1571	12954416	4,13002	2203	4300	6503	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.322G>A	19.37:g.12954416G>A	ENSP00000251472:p.Val108Ile			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V108I	ENST00000251472.4	37	c.322	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359345	0.82353	0.0	4.65E-4	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.31247	1.5	4.43	4.43	0.53597	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.626691	0.14633	N	0.307666	T	0.34308	0.0893	M	0.64260	1.97	0.43527	D	0.9958	P;B	0.41475	0.751;0.119	B;B	0.38296	0.27;0.063	T	0.38757	-0.9646	10	0.72032	D	0.01	-33.8126	14.9453	0.71026	0.0:0.0:1.0:0.0	.	108;108	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	108	ENSP00000251472:V108I	ENSP00000251472:V108I	V	+	1	0	MAST1	12815416	1.000000	0.71417	0.926000	0.36857	0.988000	0.76386	7.498000	0.81546	2.189000	0.69895	0.655000	0.94253	GTC	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom		0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12954416	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.993	A
MAST3	23031	genome.wustl.edu	37	19	18255336	18255336	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:18255336C>G	ENST00000262811.6	+	22	2558	c.2558C>G	c.(2557-2559)tCc>tGc	p.S853C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	853							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCGACACTCCACACCAAGG	0.682																																																	0													14.0	20.0	18.0					19																	18255336		1967	4152	6119	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2558C>G	19.37:g.18255336C>G	ENSP00000262811:p.Ser853Cys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.S853C	ENST00000262811.6	37	c.2558	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641260	0.47153	.	.	ENSG00000099308	ENST00000262811	T	0.68765	-0.35	4.57	3.45	0.39498	.	0.000000	0.64402	D	0.000001	T	0.78698	0.4324	M	0.76328	2.33	0.47245	D	0.999367	D	0.89917	1.0	D	0.69142	0.962	T	0.79918	-0.1600	10	0.46703	T	0.11	-26.7746	13.0731	0.59072	0.0:0.8376:0.1624:0.0	.	853	O60307	MAST3_HUMAN	C	853	ENSP00000262811:S853C	ENSP00000262811:S853C	S	+	2	0	MAST3	18116336	0.998000	0.40836	0.913000	0.36048	0.042000	0.13812	2.896000	0.48656	2.100000	0.63781	0.491000	0.48974	TCC	MAST3	-	NULL		0.682	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	C	XM_038150		18255336	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.995	G
MAST4	375449	genome.wustl.edu	37	5	66084548	66084548	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:66084548G>A	ENST00000403625.2	+	3	863	c.568G>A	c.(568-570)Gca>Aca	p.A190T	MAST4_ENST00000404260.3_Missense_Mutation_p.A190T|MAST4_ENST00000406039.1_Missense_Mutation_p.A190T|MAST4_ENST00000406374.1_Missense_Mutation_p.A190T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	190						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGCCTCTGCAGAGACGTC	0.652																																																	0													36.0	38.0	37.0					5																	66084548		1891	4111	6002	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.568G>A	5.37:g.66084548G>A	ENSP00000385727:p.Ala190Thr		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A190T	ENST00000403625.2	37	c.568	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285173	0.80803	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817	T;T;T;T;T	0.67523	-0.27;-0.26;1.26;1.25;0.8	5.67	4.73	0.59995	.	0.283398	0.27185	N	0.020535	T	0.51702	0.1690	L	0.39898	1.24	0.09310	N	1	B;B	0.33940	0.433;0.42	B;B	0.29176	0.068;0.099	T	0.37957	-0.9683	10	0.21540	T	0.41	.	9.3477	0.38118	0.1786:0.0:0.8214:0.0	.	190;190	E7EX28;O15021-4	.;.	T	190;190;190;190;62	ENSP00000385048:A190T;ENSP00000385727:A190T;ENSP00000385088:A190T;ENSP00000384547:A190T;ENSP00000413573:A62T	ENSP00000385727:A190T	A	+	1	0	MAST4	66120304	0.031000	0.19500	0.019000	0.16419	0.953000	0.61014	1.156000	0.31712	1.254000	0.44035	0.557000	0.71058	GCA	MAST4	-	NULL		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66084548	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.029	A
MBD5	55777	genome.wustl.edu	37	2	149226147	149226147	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:149226147C>G	ENST00000407073.1	+	9	1632	c.635C>G	c.(634-636)tCt>tGt	p.S212C	MBD5_ENST00000404807.1_Missense_Mutation_p.S212C	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	212					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGACAGAAATCTCCATTCCGT	0.532																																																	0													113.0	110.0	111.0					2																	149226147		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.635C>G	2.37:g.149226147C>G	ENSP00000386049:p.Ser212Cys		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.S212C	ENST00000407073.1	37	c.635	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301062	0.60195	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.60797	0.16;0.22	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	T	0.65417	0.2689	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70630	-0.4819	10	0.72032	D	0.01	-6.7601	19.0076	0.92857	0.0:1.0:0.0:0.0	.	212	Q9P267	MBD5_HUMAN	C	212	ENSP00000386049:S212C;ENSP00000384672:S212C	ENSP00000384672:S212C	S	+	2	0	MBD5	148942617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.571000	0.86741	0.591000	0.81541	TCT	MBD5	-	NULL		0.532	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	C			149226147	+1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	1.000	G
MBOAT7	79143	genome.wustl.edu	37	19	54677796	54677796	+	Missense_Mutation	SNP	C	C	T	rs548203729	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:54677796C>T	ENST00000245615.1	-	8	1841	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R381Q|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R381Q	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	454					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGCCTTCCGCCGGCTGGGGCT	0.657																																					NSCLC(97;826 2151 10470 22540)												0													22.0	24.0	23.0					19																	54677796		2203	4298	6501	SO:0001583	missense	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1361G>A	19.37:g.54677796C>T	ENSP00000245615:p.Arg454Gln		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R454Q	ENST00000245615.1	37	c.1361	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108760	0.37242	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.18502	2.21;2.21;2.24	4.79	2.64	0.31445	.	0.511841	0.14279	U	0.329638	T	0.12518	0.0304	L	0.36672	1.1	0.19575	N	0.999964	B;B;B	0.14805	0.002;0.011;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.24368	-1.0162	10	0.34782	T	0.22	-17.9345	6.9309	0.24442	0.0:0.709:0.0:0.291	.	436;381;454	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	Q	381;381;454	ENSP00000410503:R381Q;ENSP00000344377:R381Q;ENSP00000245615:R454Q	ENSP00000245615:R454Q	R	-	2	0	MBOAT7	59369608	0.496000	0.26059	0.956000	0.39512	0.895000	0.52256	0.734000	0.26101	0.539000	0.28788	0.480000	0.44947	CGG	MBOAT7	-	NULL		0.657	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	C	NM_024298		54677796	-1	no_errors	ENST00000245615	ensembl	human	known	70_37	missense	SNP	0.587	T
MC2R	4158	genome.wustl.edu	37	18	13885164	13885164	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:13885164G>C	ENST00000327606.3	-	2	534	c.354C>G	c.(352-354)atC>atG	p.I118M		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	118					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGCTGAAGATGGAGCCAA	0.542																																					Colon(141;1584 1782 35999 48227 48692)												0													118.0	82.0	94.0					18																	13885164		2203	4300	6503	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.354C>G	18.37:g.13885164G>C	ENSP00000333821:p.Ile118Met		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.I118M	ENST00000327606.3	37	c.354	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950844	0.34471	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.76316	2.08;-1.01	4.97	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	M	0.72479	2.2	0.33880	D	0.636007	D	0.89917	1.0	D	0.81914	0.995	T	0.83237	-0.0060	10	0.24483	T	0.36	.	15.0187	0.71609	0.3033:0.0:0.6967:0.0	.	118	Q01718	ACTHR_HUMAN	M	118	ENSP00000333821:I118M;ENSP00000382718:I118M	ENSP00000333821:I118M	I	-	3	3	MC2R	13875164	0.907000	0.30839	0.945000	0.38365	0.760000	0.43138	0.017000	0.13399	-0.706000	0.05028	-0.157000	0.13467	ATC	MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	G			13885164	-1	no_errors	ENST00000327606	ensembl	human	known	70_37	missense	SNP	0.702	C
MCC	4163	genome.wustl.edu	37	5	112363160	112363160	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:112363160C>G	ENST00000302475.4	-	17	2892	c.2329G>C	c.(2329-2331)Gag>Cag	p.E777Q	MCC_ENST00000408903.3_Missense_Mutation_p.E967Q|MCC_ENST00000515367.2_Missense_Mutation_p.E714Q|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	777					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTTGCTTTCTCATAGGCAGCC	0.458																																																	0													182.0	159.0	166.0					5																	112363160		2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2329G>C	5.37:g.112363160C>G	ENSP00000305617:p.Glu777Gln		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.E777Q	ENST00000302475.4	37	c.2329	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938390	0.92526	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39056	2.27;2.27;1.1	5.83	5.83	0.93111	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	L	0.55481	1.735	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.75484	0.986;0.982	T	0.52102	-0.8620	10	0.29301	T	0.29	-26.7144	20.1374	0.98035	0.0:1.0:0.0:0.0	.	967;777	P23508-2;P23508	.;CRCM_HUMAN	Q	777;714;967	ENSP00000305617:E777Q;ENSP00000421615:E714Q;ENSP00000386227:E967Q	ENSP00000305617:E777Q	E	-	1	0	MCC	112391059	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.942000	0.70203	2.763000	0.94921	0.563000	0.77884	GAG	MCC	-	pfam_USH1C-bd_PDZ_domain		0.458	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112363160	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	missense	SNP	1.000	G
MDN1	23195	genome.wustl.edu	37	6	90383069	90383069	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:90383069C>G	ENST00000369393.3	-	80	13475	c.13360G>C	c.(13360-13362)Gac>Cac	p.D4454H	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.D4454H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4454					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTTGTGAGTCTCTTTGCTCA	0.458																																																	0													104.0	97.0	100.0					6																	90383069		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13360G>C	6.37:g.90383069C>G	ENSP00000358400:p.Asp4454His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4454H	ENST00000369393.3	37	c.13360	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236868	0.39498	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	6.06	5.19	0.71726	.	0.326590	0.30999	N	0.008456	T	0.01800	0.0057	L	0.59436	1.845	0.09310	N	1	P	0.38642	0.641	B	0.32289	0.143	T	0.39292	-0.9621	10	0.41790	T	0.15	.	12.1833	0.54223	0.0:0.8639:0.0:0.1361	.	4454	Q9NU22	MDN1_HUMAN	H	4454	ENSP00000358400:D4454H;ENSP00000413970:D4454H	ENSP00000358400:D4454H	D	-	1	0	MDN1	90439790	0.100000	0.21855	0.294000	0.24946	0.897000	0.52465	1.136000	0.31467	1.576000	0.49790	0.655000	0.94253	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383069	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.028	G
MDN1	23195	genome.wustl.edu	37	6	90383842	90383842	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:90383842C>G	ENST00000369393.3	-	79	13343	c.13228G>C	c.(13228-13230)Gag>Cag	p.E4410Q	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.E4410Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4410					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAGAGTCTCACAAGACTGC	0.413																																																	0													81.0	75.0	77.0					6																	90383842		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13228G>C	6.37:g.90383842C>G	ENSP00000358400:p.Glu4410Gln		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4410Q	ENST00000369393.3	37	c.13228	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150820	0.78001	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03745	3.82;3.82	6.17	6.17	0.99709	.	0.064380	0.64402	D	0.000010	T	0.10551	0.0258	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.25293	-1.0136	10	0.25106	T	0.35	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4410	Q9NU22	MDN1_HUMAN	Q	4410	ENSP00000358400:E4410Q;ENSP00000413970:E4410Q	ENSP00000358400:E4410Q	E	-	1	0	MDN1	90440563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.760000	0.62235	2.941000	0.99782	0.655000	0.94253	GAG	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90383842	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G
MDS2	259283	genome.wustl.edu	37	1	23908023	23908023	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:23908023C>G	ENST00000477916.1	+	0	39							Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated							extracellular space (GO:0005615)				breast(1)|ovary(2)	3						CAACGCTCATCTGCAAGTTGG	0.597			T	ETV6	MDS																																			Dom	yes		1	1p36	259283	myelodysplastic syndrome 2		L	0													19.0	17.0	18.0					1																	23908023		876	1991	2867	SO:0001624	3_prime_UTR_variant	259283			AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927	ENST00000477916.1:c.*36C>G	1.37:g.23908023C>G				RNA	SNP	-	NULL	ENST00000477916.1	37	NULL		1																																																																																			MDS2	-	-		0.597	MDS2-002	KNOWN	basic	processed_transcript	MDS2	HGNC	protein_coding	OTTHUMT00000008173.1	C	NM_148895		23908023	+1	no_errors	ENST00000477916	ensembl	human	known	70_37	rna	SNP	0.539	G
MED11	400569	genome.wustl.edu	37	17	4636385	4636385	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4636385C>T	ENST00000293777.5	+	3	313	c.257C>T	c.(256-258)tCg>tTg	p.S86L	MED11_ENST00000575284.1_3'UTR|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	86						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						AGCTACTCTTCGAGGAAGGAC	0.557																																																	0													94.0	80.0	85.0					17																	4636385		2203	4300	6503	SO:0001583	missense	400569			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.257C>T	17.37:g.4636385C>T	ENSP00000293777:p.Ser86Leu		Q6NS89	Missense_Mutation	SNP	pfam_Mediator_Med11	p.S86L	ENST00000293777.5	37	c.257	CCDS32533.1	17	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816690	0.70912	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.74	4.74	0.60224	.	0.163543	0.37669	N	0.001992	T	0.47040	0.1424	L	0.38175	1.15	0.41743	D	0.989629	B	0.34313	0.448	B	0.29440	0.102	T	0.51631	-0.8681	9	0.66056	D	0.02	-22.7906	14.2205	0.65823	0.0:0.8492:0.1508:0.0	.	86	Q9P086	MED11_HUMAN	L	86	.	ENSP00000293777:S86L	S	+	2	0	MED11	4583134	0.999000	0.42202	0.893000	0.35052	0.967000	0.64934	4.595000	0.61048	1.365000	0.46057	0.655000	0.94253	TCG	MED11	-	pfam_Mediator_Med11		0.557	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED11	HGNC	protein_coding	OTTHUMT00000439574.1	C	NM_001001683		4636385	+1	no_errors	ENST00000293777	ensembl	human	known	70_37	missense	SNP	0.989	T
MED24	9862	genome.wustl.edu	37	17	38182491	38182491	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38182491C>T	ENST00000394128.2	-	19	1984	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	MED24_ENST00000501516.3_Missense_Mutation_p.E654K|MED24_ENST00000356271.3_Missense_Mutation_p.E622K|MED24_ENST00000394127.2_Missense_Mutation_p.E622K|MED24_ENST00000394126.1_Missense_Mutation_p.E660K|SNORD124_ENST00000459577.1_RNA	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	635					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTCTCACGCTCATCCAGCCCC	0.562																																																	0													151.0	135.0	141.0					17																	38182491		2203	4300	6503	SO:0001583	missense	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1903G>A	17.37:g.38182491C>T	ENSP00000377686:p.Glu635Lys		A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.E635K	ENST00000394128.2	37	c.1903	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714861	0.68844	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.60797	0.16;0.16;0.16	4.79	4.79	0.61399	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	M	0.66939	2.045	0.80722	D	1	B;D;D;D;D	0.69078	0.447;0.996;0.996;0.997;0.996	B;D;D;D;D	0.79108	0.168;0.99;0.987;0.992;0.99	T	0.75371	-0.3341	10	0.48119	T	0.1	-25.9413	18.0401	0.89316	0.0:1.0:0.0:0.0	.	585;545;622;635;577	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	K	635;635;635;585;622;577;106;545	ENSP00000377686:E635K;ENSP00000443344:E585K;ENSP00000377685:E622K	ENSP00000348610:E635K	E	-	1	0	MED24	35436017	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.645000	0.83430	2.478000	0.83669	0.655000	0.94253	GAG	MED24	-	pfam_Mediator_Med24_N		0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	C	NM_014815		38182491	-1	no_errors	ENST00000394128	ensembl	human	known	70_37	missense	SNP	1.000	T
MEF2D	4209	genome.wustl.edu	37	1	156446854	156446854	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:156446854C>A	ENST00000348159.4	-	7	1285	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	MEF2D_ENST00000464356.2_Missense_Mutation_p.D268Y|MEF2D_ENST00000340875.5_Missense_Mutation_p.D268Y|MEF2D_ENST00000360595.3_Missense_Mutation_p.D269Y|MEF2D_ENST00000368240.2_Missense_Mutation_p.D269Y|MEF2D_ENST00000353795.3_Missense_Mutation_p.D223Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	269					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCGCAGGTCGGGCTTGCGG	0.607																																																	0													81.0	79.0	80.0					1																	156446854		2203	4300	6503	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.805G>T	1.37:g.156446854C>A	ENSP00000271555:p.Asp269Tyr		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.D269Y	ENST00000348159.4	37	c.805	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895339	0.91962	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.984;0.996	T	0.63686	-0.6581	10	0.87932	D	0	-22.21	17.7508	0.88432	0.0:1.0:0.0:0.0	.	274;269;269	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Y	269;268;269;223;269;268	ENSP00000271555:D269Y;ENSP00000343159:D268Y;ENSP00000357223:D269Y;ENSP00000344705:D223Y;ENSP00000353803:D269Y;ENSP00000388505:D268Y	ENSP00000343159:D268Y	D	-	1	0	MEF2D	154713478	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.298000	0.78815	2.524000	0.85096	0.655000	0.94253	GAC	MEF2D	-	NULL		0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	C	NM_005920		156446854	-1	no_errors	ENST00000348159	ensembl	human	known	70_37	missense	SNP	1.000	A
MEGF9	1955	genome.wustl.edu	37	9	123370233	123370233	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:123370233C>T	ENST00000373930.3	-	5	1254	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	MEGF9_ENST00000426959.1_Silent_p.P418P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	381	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TATTGCAGTTCGGGCCTATGT	0.393																																																	0													135.0	127.0	129.0					9																	123370233		1886	4106	5992	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1143G>A	9.37:g.123370233C>T			B7Z315|O75098	Silent	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.P418	ENST00000373930.3	37	c.1254	CCDS48010.2	9																																																																																			MEGF9	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin		0.393	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	C	NM_001080497		123370233	-1	no_errors	ENST00000426959	ensembl	human	known	70_37	silent	SNP	0.803	T
MEPE	56955	genome.wustl.edu	37	4	88767194	88767194	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:88767194G>A	ENST00000424957.3	+	4	1247	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	MEPE_ENST00000560249.1_Missense_Mutation_p.E279K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.E392K|MEPE_ENST00000540395.1_Missense_Mutation_p.E279K|MEPE_ENST00000497649.2_Missense_Mutation_p.E368K|MEPE_ENST00000395102.4_Missense_Mutation_p.E423K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	392					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGATGCAGCTGAAAGTACCAA	0.413																																																	0													71.0	69.0	70.0					4																	88767194		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1174G>A	4.37:g.88767194G>A	ENSP00000416984:p.Glu392Lys		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.E392K	ENST00000424957.3	37	c.1174	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385376	0.25031	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.56611	4.36;0.48;0.45;0.47;4.36	4.99	-0.0862	0.13682	.	0.820976	0.10720	N	0.641892	T	0.41026	0.1141	L	0.55834	1.745	0.09310	N	1	B	0.29805	0.257	B	0.23275	0.045	T	0.20273	-1.0280	10	0.35671	T	0.21	-6.7865	6.0794	0.19933	0.1875:0.4557:0.3568:0.0	.	392	Q9NQ76	MEPE_HUMAN	K	392;423;368;279;392	ENSP00000416984:E392K;ENSP00000378534:E423K;ENSP00000422747:E368K;ENSP00000443491:E279K;ENSP00000354341:E392K	ENSP00000354341:E392K	E	+	1	0	MEPE	88986218	0.013000	0.17824	0.000000	0.03702	0.009000	0.06853	0.266000	0.18534	-0.248000	0.09583	-0.165000	0.13383	GAA	MEPE	-	NULL		0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88767194	+1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.000	A
METTL13	51603	genome.wustl.edu	37	1	171753007	171753007	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:171753007G>A	ENST00000361735.3	+	2	547	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	METTL13_ENST00000367737.5_Missense_Mutation_p.R94Q|METTL13_ENST00000458517.1_Missense_Mutation_p.R93Q|METTL13_ENST00000362019.3_Missense_Mutation_p.R8Q	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	94							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AATGCCACCCGACGGCCCCAG	0.507																																																	0													133.0	122.0	126.0					1																	171753007		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.281G>A	1.37:g.171753007G>A	ENSP00000354920:p.Arg94Gln		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.R94Q	ENST00000361735.3	37	c.281	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770407	0.31320	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.42131	0.98;0.98;2.91;0.98;0.98	5.13	4.22	0.49857	Methyltransferase type 11 (1);	0.061551	0.64402	D	0.000004	T	0.14874	0.0359	L	0.52364	1.645	0.20403	N	0.999908	P;B;P	0.47409	0.895;0.105;0.795	B;B;B	0.41440	0.271;0.013;0.357	T	0.06826	-1.0805	10	0.13853	T	0.58	-7.229	6.4666	0.21985	0.1592:0.0:0.692:0.1487	.	93;94;94	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	Q	93;8;94;94;11;8	ENSP00000401955:R93Q;ENSP00000355393:R8Q;ENSP00000356711:R94Q;ENSP00000354920:R94Q;ENSP00000356710:R11Q	ENSP00000341732:R8Q	R	+	2	0	METTL13	170019630	0.028000	0.19301	0.193000	0.23327	0.263000	0.26337	2.029000	0.41098	1.133000	0.42147	-0.136000	0.14681	CGA	METTL13	-	pfam_Methyltransf_11		0.507	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	G	NM_014955		171753007	+1	no_errors	ENST00000361735	ensembl	human	known	70_37	missense	SNP	0.092	A
MFAP1	4236	genome.wustl.edu	37	15	44106778	44106778	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44106778C>T	ENST00000267812.3	-	4	770	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	180					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GACTCTGATTCTGACTCCTCT	0.493																																																	0													211.0	201.0	204.0					15																	44106778		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.538G>A	15.37:g.44106778C>T	ENSP00000267812:p.Glu180Lys		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E180K	ENST00000267812.3	37	c.538	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252500	0.80135	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.88906	2.99	0.80722	D	1	P	0.41748	0.761	B	0.42112	0.376	T	0.76942	-0.2772	9	0.46703	T	0.11	-23.7233	19.5698	0.95407	0.0:1.0:0.0:0.0	.	180	P55081	MFAP1_HUMAN	K	180	.	ENSP00000267812:E180K	E	-	1	0	MFAP1	41894070	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.670000	0.68088	2.797000	0.96272	0.563000	0.77884	GAA	MFAP1	-	pfam_MFAP1_C		0.493	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44106778	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T
MFAP1	4236	genome.wustl.edu	37	15	44106805	44106805	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44106805C>T	ENST00000267812.3	-	4	743	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	171					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CGACCCTCATCTTCCACTTCC	0.468																																																	0													200.0	193.0	195.0					15																	44106805		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.511G>A	15.37:g.44106805C>T	ENSP00000267812:p.Asp171Asn		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.D171N	ENST00000267812.3	37	c.511	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874496	0.91664	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.74	5.74	0.90152	.	0.093120	0.64402	D	0.000001	T	0.67297	0.2878	M	0.71581	2.175	0.80722	D	1	P	0.41784	0.762	B	0.42245	0.381	T	0.66512	-0.5905	9	0.37606	T	0.19	-27.2361	19.9085	0.97016	0.0:1.0:0.0:0.0	.	171	P55081	MFAP1_HUMAN	N	171	.	ENSP00000267812:D171N	D	-	1	0	MFAP1	41894097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.873000	0.98535	0.563000	0.77884	GAT	MFAP1	-	pfam_MFAP1_C		0.468	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44106805	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T
MFAP1	4236	genome.wustl.edu	37	15	44109624	44109624	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44109624C>T	ENST00000267812.3	-	2	334	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	34					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTTACCTTCACTTTTTCCA	0.433																																																	0													97.0	90.0	92.0					15																	44109624		2198	4298	6496	SO:0001819	synonymous_variant	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.102G>A	15.37:g.44109624C>T			Q86TG6	Silent	SNP	pfam_MFAP1_C	p.V34	ENST00000267812.3	37	c.102	CCDS10105.1	15																																																																																			MFAP1	-	NULL		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44109624	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	silent	SNP	1.000	T
MFAP4	4239	genome.wustl.edu	37	17	19290081	19290081	+	Missense_Mutation	SNP	C	C	T	rs372745312		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:19290081C>T	ENST00000299610.4	-	2	161	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Missense_Mutation_p.R51Q|MFAP4_ENST00000395592.2_Missense_Mutation_p.R50Q	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	26					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACCATCTCCTCGGATCCCGGA	0.667																																																	0								C	GLN/ARG,GLN/ARG	0,4352		0,0,2176	13.0	14.0	14.0		149,77	4.0	1.0	17		14	1,8559		0,1,4279	no	missense,missense	MFAP4	NM_001198695.1,NM_002404.2	43,43	0,1,6455	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	50/280,26/256	19290081	1,12911	2176	4280	6456	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.77G>A	17.37:g.19290081C>T	ENSP00000299610:p.Arg26Gln		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R50Q	ENST00000299610.4	37	c.149	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235907	0.58886	0.0	1.17E-4	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.54479	0.57;0.58	5.02	4.04	0.47022	.	0.494869	0.17154	N	0.184957	T	0.31071	0.0785	N	0.19112	0.55	0.30895	N	0.72992	B;D	0.58620	0.01;0.983	B;B	0.37731	0.001;0.257	T	0.14839	-1.0458	10	0.14252	T	0.57	.	11.1069	0.48207	0.1852:0.8148:0.0:0.0	.	26;50	P55083;A8MVM2	MFAP4_HUMAN;.	Q	50;26	ENSP00000378957:R50Q;ENSP00000299610:R26Q	ENSP00000299610:R26Q	R	-	2	0	MFAP4	19230674	0.910000	0.30920	0.999000	0.59377	0.847000	0.48162	1.513000	0.35823	1.236000	0.43740	0.549000	0.68633	CGA	MFAP4	-	NULL		0.667	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19290081	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	1.000	T
MFSD11	79157	genome.wustl.edu	37	17	74735031	74735031	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74735031C>T	ENST00000588460.1	+	2	2150	c.108C>T	c.(106-108)atC>atT	p.I36I	MFSD11_ENST00000586622.1_Silent_p.I36I|MFSD11_ENST00000590514.1_Silent_p.I36I|SRSF2_ENST00000392485.2_5'Flank|SRSF2_ENST00000508921.3_5'Flank|MFSD11_ENST00000593181.1_Silent_p.I36I|MFSD11_ENST00000336509.4_Silent_p.I36I|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000355954.3_Silent_p.I36I|MIR636_ENST00000384825.1_RNA	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	36						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						AAACTGTCATCAGGAGCTTAA	0.403																																																	0													117.0	104.0	108.0					17																	74735031		2203	4300	6503	SO:0001819	synonymous_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.108C>T	17.37:g.74735031C>T			O43442|Q9NXI5	Silent	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I36	ENST00000588460.1	37	c.108	CCDS11750.1	17																																																																																			MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.403	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	C	NM_024311		74735031	+1	no_errors	ENST00000336509	ensembl	human	known	70_37	silent	SNP	1.000	T
MFSD11	79157	genome.wustl.edu	37	17	74740547	74740547	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74740547G>A	ENST00000588460.1	+	7	2682	c.640G>A	c.(640-642)Gag>Aag	p.E214K	MFSD11_ENST00000586622.1_Splice_Site_p.E214K|MFSD11_ENST00000590514.1_Splice_Site_p.E214K|MFSD11_ENST00000593181.1_Splice_Site_p.E162K|MFSD11_ENST00000336509.4_Splice_Site_p.E214K|MFSD11_ENST00000355954.3_Splice_Site_p.E162K	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	214						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GGAAGTCAACGAGTAAGATGT	0.388																																																	0													87.0	81.0	83.0					17																	74740547		2203	4300	6503	SO:0001630	splice_region_variant	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.641+1G>A	17.37:g.74740547G>A			O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E214K	ENST00000588460.1	37	c.640	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932446	0.34096	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.08896	3.39;3.04	5.41	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);	0.955933	0.08846	N	0.885109	T	0.07143	0.0181	L	0.49126	1.545	0.24566	N	0.993943	B;B	0.15719	0.014;0.01	B;B	0.09377	0.003;0.004	T	0.50825	-0.8782	10	0.07990	T	0.79	-6.4673	3.3447	0.07131	0.2013:0.0:0.5559:0.2428	.	162;214	O43934-2;O43934	.;MFS11_HUMAN	K	214;162	ENSP00000337240:E214K;ENSP00000348225:E162K	ENSP00000337240:E214K	E	+	1	0	MFSD11	72252142	0.950000	0.32346	0.931000	0.37212	0.942000	0.58702	2.748000	0.47483	2.709000	0.92574	0.655000	0.94253	GAG	MFSD11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.388	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	G	NM_024311	Missense_Mutation	74740547	+1	no_errors	ENST00000336509	ensembl	human	known	70_37	missense	SNP	0.544	A
MGAM	8972	genome.wustl.edu	37	7	141727450	141727450	+	Missense_Mutation	SNP	G	G	C	rs191269779	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:141727450G>C	ENST00000549489.2	+	10	1231	c.1136G>C	c.(1135-1137)gGa>gCa	p.G379A	MGAM_ENST00000475668.2_Missense_Mutation_p.G379A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	379	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGCGCTTGGATTTCACCTC	0.438																																																	0													64.0	63.0	63.0					7																	141727450		1859	4094	5953	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1136G>C	7.37:g.141727450G>C	ENSP00000447378:p.Gly379Ala		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G379A	ENST00000549489.2	37	c.1136	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854537	0.91355	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.98207	-4.79	5.55	5.55	0.83447	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000046	D	0.99036	0.9670	M	0.86420	2.815	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	379	O43451	MGA_HUMAN	A	379;379;256	ENSP00000447378:G379A	ENSP00000316431:G256A	G	+	2	0	MGAM	141373919	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.176000	0.94839	2.885000	0.99019	0.655000	0.94253	GGA	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141727450	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	1.000	C
MGAT5	4249	genome.wustl.edu	37	2	135206278	135206278	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:135206278G>A	ENST00000409645.1	+	17	2338	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	MGAT5_ENST00000281923.2_Missense_Mutation_p.D696N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	696					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCCCTCCTTTGACCCTAAGAA	0.567																																																	0													206.0	197.0	200.0					2																	135206278		2203	4300	6503	SO:0001583	missense	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.2086G>A	2.37:g.135206278G>A	ENSP00000386377:p.Asp696Asn		D3DP70	Missense_Mutation	SNP	NULL	p.D696N	ENST00000409645.1	37	c.2086	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605245	0.14002	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.09	4.18	0.49190	.	0.170007	0.64402	D	0.000005	T	0.37433	0.1003	L	0.37630	1.12	0.40875	D	0.983942	P	0.36535	0.557	B	0.28305	0.088	T	0.19712	-1.0297	9	0.13853	T	0.58	-9.2577	14.7381	0.69430	0.0:0.0:0.8495:0.1504	.	696	Q09328	MGT5A_HUMAN	N	696	.	ENSP00000281923:D696N	D	+	1	0	MGAT5	134922748	1.000000	0.71417	0.909000	0.35828	0.996000	0.88848	4.940000	0.63533	1.215000	0.43411	0.655000	0.94253	GAC	MGAT5	-	NULL		0.567	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	G	NM_002410		135206278	+1	no_errors	ENST00000281923	ensembl	human	known	70_37	missense	SNP	0.997	A
MGEA5	10724	genome.wustl.edu	37	10	103552510	103552510	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:103552510G>A	ENST00000361464.3	-	12	2571				MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000482611.1_Intron|MGEA5_ENST00000357797.5_Intron	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AAGACAGAAGGATTCCTTTAA	0.348																																																	0																																										SO:0001627	intron_variant	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2175+85C>T	10.37:g.103552510G>A			B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	RNA	SNP	-	NULL	ENST00000361464.3	37	NULL	CCDS7520.1	10																																																																																			MGEA5	-	-		0.348	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	G	NM_012215		103552510	-1	no_errors	ENST00000492204	ensembl	human	known	70_37	rna	SNP	0.000	A
MGRN1	23295	genome.wustl.edu	37	16	4738831	4738831	+	3'UTR	SNP	C	C	T	rs376895162		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:4738831C>T	ENST00000399577.5	+	0	4283				MGRN1_ENST00000262370.7_Silent_p.L551L|MGRN1_ENST00000586183.1_3'UTR|MGRN1_ENST00000588994.1_Silent_p.L529L|MGRN1_ENST00000415496.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L551L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCACGGCCTCGCCACCACCA	0.716																																																	1	Substitution - coding silent(1)	endometrium(1)						C	,,,	2,3940		0,2,1969	6.0	11.0	9.0		1587,,,1653	1.6	0.1	16		9	0,8096		0,0,4048	no	coding-synonymous,utr-3,utr-3,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,2,6017	TT,TC,CC		0.0,0.0507,0.0166	,,,	529/555,,,551/577	4738831	2,12036	1971	4048	6019	SO:0001624	3_prime_UTR_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.*2531C>T	16.37:g.4738831C>T			A4URL3|A4URL4|Q86W76	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L551	ENST00000399577.5	37	c.1653	CCDS45402.1	16																																																																																			MGRN1	-	NULL		0.716	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	C			4738831	+1	no_errors	ENST00000262370	ensembl	human	known	70_37	silent	SNP	0.218	T
MIA3	375056	genome.wustl.edu	37	1	222794559	222794559	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:222794559G>A	ENST00000344922.5	+	2	217	c.192G>A	c.(190-192)gtG>gtA	p.V64V	MIA3_ENST00000344507.1_Silent_p.V64V|MIA3_ENST00000344441.6_Silent_p.V64V|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	64	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCGTTTTGTGAATTTTAAAA	0.378																																																	0													134.0	129.0	131.0					1																	222794559		1833	4078	5911	SO:0001819	synonymous_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.192G>A	1.37:g.222794559G>A			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain	p.V64	ENST00000344922.5	37	c.192	CCDS41470.1	1																																																																																			MIA3	-	pfam_SH3_2,superfamily_SH3_domain		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222794559	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	silent	SNP	0.997	A
MINK1	50488	genome.wustl.edu	37	17	4795728	4795728	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4795728C>T	ENST00000355280.6	+	18	2315	c.2119C>T	c.(2119-2121)Ctg>Ttg	p.L707L	MINK1_ENST00000347992.7_Intron|MINK1_ENST00000453408.3_Silent_p.L687L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAAATCTATCTGCAAAGGCG	0.682																																																	0													5.0	7.0	6.0					17																	4795728		1774	3996	5770	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2119C>T	17.37:g.4795728C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L707	ENST00000355280.6	37	c.2119	CCDS45588.1	17																																																																																			MINK1	-	NULL		0.682	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	C	NM_015716		4795728	+1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	1.000	T
ID1	3397	genome.wustl.edu	37	20	30195015	30195015	+	IGR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:30195015G>A	ENST00000376112.3	+	0	994				MIR3193_ENST00000578262.1_RNA	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein						angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGGAGTGGACGAGTCTCATTA	0.537																																					NSCLC(123;1618 1779 21803 28680 33854)												0																																										SO:0001628	intergenic_variant	100422904				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181		20.37:g.30195015G>A			A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	RNA	SNP	-	NULL	ENST00000376112.3	37	NULL	CCDS13185.1	20																																																																																			MIR3193	-	-		0.537	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3193	HGNC	protein_coding	OTTHUMT00000078550.1	G	NM_002165		30195015	+1	no_errors	ENST00000578262	ensembl	human	known	70_37	rna	SNP	0.000	A
MKLN1	4289	genome.wustl.edu	37	7	131155656	131155656	+	Missense_Mutation	SNP	G	G	T	rs550493200		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:131155656G>T	ENST00000352689.6	+	16	2024	c.1984G>T	c.(1984-1986)Gat>Tat	p.D662Y	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.D570Y	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	662					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTTACAAAATGATCTTTATAT	0.323																																																	0													69.0	73.0	72.0					7																	131155656		2203	4294	6497	SO:0001583	missense	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1984G>T	7.37:g.131155656G>T	ENSP00000323527:p.Asp662Tyr		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.D662Y	ENST00000352689.6	37	c.1984	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745800	0.89663	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.31247	1.5;1.5	5.87	5.87	0.94306	.	0.045312	0.85682	N	0.000000	T	0.48607	0.1509	L	0.48642	1.525	0.80722	D	1	P;D;D;D	0.63880	0.935;0.981;0.981;0.993	P;P;P;P	0.60682	0.556;0.592;0.592;0.878	T	0.39121	-0.9629	10	0.72032	D	0.01	-18.3873	19.2041	0.93723	0.0:0.0:1.0:0.0	.	662;639;570;152	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	Y	570;662;152	ENSP00000398094:D570Y;ENSP00000323527:D662Y	ENSP00000323527:D662Y	D	+	1	0	MKLN1	130806196	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.124000	0.94394	2.784000	0.95788	0.549000	0.68633	GAT	MKLN1	-	NULL		0.323	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	G	NM_013255		131155656	+1	no_errors	ENST00000352689	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118362470	118362470	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:118362470G>A	ENST00000389506.5	+	15	4822	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	KMT2A_ENST00000534358.1_Missense_Mutation_p.E1611K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1570K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1608					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGAGATGTATGAGATTCTATC	0.438																																																	0													99.0	93.0	95.0					11																	118362470		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4822G>A	11.37:g.118362470G>A	ENSP00000374157:p.Glu1608Lys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.E1608K	ENST00000389506.5	37	c.4822	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735361	0.89482	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	T;D;D;T	0.85013	-0.06;-1.93;-1.93;1.56	5.76	5.76	0.90799	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.987;0.999	D;D	0.83275	0.951;0.996	D	0.91844	0.5486	10	0.72032	D	0.01	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1611;1608	E9PQG7;Q03164	.;MLL1_HUMAN	K	1611;1608;1570;518;320	ENSP00000436786:E1611K;ENSP00000374157:E1608K;ENSP00000346516:E1570K;ENSP00000376612:E320K	ENSP00000346516:E1570K	E	+	1	0	MLL	117867680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	GAG	MLL	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118362470	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36217210	36217210	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:36217210G>C	ENST00000222270.7	+	14	3959	c.3959G>C	c.(3958-3960)gGa>gCa	p.G1320A	KMT2B_ENST00000420124.1_Missense_Mutation_p.G1320A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1320					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGTGGTCTGGAGATTACAGC	0.617																																																	0													65.0	69.0	68.0					19																	36217210		1956	4154	6110	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3959G>C	19.37:g.36217210G>C	ENSP00000222270:p.Gly1320Ala		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.G1320A	ENST00000222270.7	37	c.3959	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334014	0.60853	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82893	-1.66;-1.66	5.14	5.14	0.70334	.	0.000000	0.40818	N	0.001014	T	0.71143	0.3305	N	0.22421	0.69	0.38319	D	0.943473	D	0.57257	0.979	P	0.46718	0.525	T	0.68640	-0.5355	10	0.10377	T	0.69	.	7.6158	0.28156	0.171:0.0:0.829:0.0	.	1320	Q9UMN6	MLL4_HUMAN	A	1320	ENSP00000222270:G1320A;ENSP00000398837:G1320A	ENSP00000222270:G1320A	G	+	2	0	AD000671.1	40909050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.025000	0.70864	2.677000	0.91161	0.655000	0.94253	GGA	WBP7	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36217210	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	C
MLLT11	10962	genome.wustl.edu	37	1	151039932	151039932	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:151039932C>T	ENST00000368921.3	+	2	3034	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	78					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)				upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGAGAGCTCCCATTGCCAG	0.532																																																	0													138.0	133.0	135.0					1																	151039932		2203	4300	6503	SO:0001583	missense	10962			BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"""ALL1 fused gene from chromosome 1q"""	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.232C>T	1.37:g.151039932C>T	ENSP00000357917:p.Pro78Ser			Missense_Mutation	SNP	NULL	p.P78S	ENST00000368921.3	37	c.232	CCDS982.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.458325	0.96240	.	.	ENSG00000213190	ENST00000368921	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	U	0.000016	T	0.81735	0.4885	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82232	-0.0559	8	0.87932	D	0	-8.0706	19.4432	0.94831	0.0:1.0:0.0:0.0	.	78	Q13015	AF1Q_HUMAN	S	78	.	ENSP00000357917:P78S	P	+	1	0	MLLT11	149306556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.454000	0.73493	2.941000	0.99782	0.655000	0.94253	CCC	MLLT11	-	NULL		0.532	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT11	HGNC	protein_coding	OTTHUMT00000085103.1	C	NM_006818		151039932	+1	no_errors	ENST00000368921	ensembl	human	known	70_37	missense	SNP	1.000	T
MMAA	166785	genome.wustl.edu	37	4	146567305	146567305	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:146567305G>A	ENST00000281317.5	+	4	1940	c.730G>A	c.(730-732)Gtt>Att	p.V244I	MMAA_ENST00000541599.1_De_novo_Start_InFrame|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	244					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGAAACCGTTGGTGAGTG	0.353																																																	0													157.0	147.0	150.0					4																	146567305		2203	4300	6503	SO:0001583	missense	166785			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.730G>A	4.37:g.146567305G>A	ENSP00000281317:p.Val244Ile		B3KX40|Q495G7	Missense_Mutation	SNP	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK	p.V244I	ENST00000281317.5	37	c.730	CCDS3766.1	4	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483520	0.84854	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.92595	-3.07	5.42	4.54	0.55810	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.95816	3.725	0.80722	D	1	D;P	0.89917	1.0;0.889	D;B	0.71656	0.974;0.22	D	0.97875	1.0288	10	0.66056	D	0.02	-21.1711	15.5666	0.76298	0.0:0.0:0.8618:0.1382	.	244;244	Q8IVH4;D6RIS5	MMAA_HUMAN;.	I	244	ENSP00000281317:V244I	ENSP00000281317:V244I	V	+	1	0	MMAA	146786755	1.000000	0.71417	0.761000	0.31378	0.706000	0.40770	7.315000	0.78998	2.529000	0.85273	0.650000	0.86243	GTT	MMAA	-	pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK		0.353	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	HGNC	protein_coding	OTTHUMT00000364668.2	G			146567305	+1	no_errors	ENST00000281317	ensembl	human	known	70_37	missense	SNP	1.000	A
MMP2	4313	genome.wustl.edu	37	16	55523672	55523672	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:55523672G>C	ENST00000219070.4	+	7	1625	c.1116G>C	c.(1114-1116)aaG>aaC	p.K372N	MMP2_ENST00000437642.2_Missense_Mutation_p.K322N|MMP2_ENST00000543485.1_Missense_Mutation_p.K296N|MMP2_ENST00000570308.1_Missense_Mutation_p.K296N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	372	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GTGACGGAAAGATGTGGTGTG	0.587																																																	0													111.0	95.0	101.0					16																	55523672		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1116G>C	16.37:g.55523672G>C	ENSP00000219070:p.Lys372Asn		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.K372N	ENST00000219070.4	37	c.1116	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068331	0.55539	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.53206	0.63;0.63;0.63	5.05	4.08	0.47627	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.68002	-0.5524	10	0.72032	D	0.01	.	8.9338	0.35686	0.2516:0.0:0.7484:0.0	.	322;372	E9PE45;P08253	.;MMP2_HUMAN	N	372;296;322	ENSP00000219070:K372N;ENSP00000444143:K296N;ENSP00000394237:K322N	ENSP00000219070:K372N	K	+	3	2	MMP2	54081173	0.961000	0.32948	0.956000	0.39512	0.594000	0.36715	1.413000	0.34725	2.504000	0.84457	0.655000	0.94253	AAG	MMP2	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.587	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	G			55523672	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.970	C
MN1	4330	genome.wustl.edu	37	22	28146820	28146820	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:28146820G>C	ENST00000302326.4	-	0	5000				MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1						intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAAATTAACAgaggggtgggg	0.483			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0																																										SO:0001624	3_prime_UTR_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.*83C>G	22.37:g.28146820G>C			A9Z1V9	RNA	SNP	-	NULL	ENST00000302326.4	37	NULL	CCDS42998.1	22																																																																																			MN1	-	-		0.483	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28146820	-1	no_errors	ENST00000497225	ensembl	human	putative	70_37	rna	SNP	0.000	C
MN1	4330	genome.wustl.edu	37	22	28146942	28146942	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:28146942G>C	ENST00000302326.4	-	2	4878	c.3924C>G	c.(3922-3924)atC>atG	p.I1308M	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1308					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCTGTTGGAGATGTCAGAAT	0.587			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													71.0	80.0	77.0					22																	28146942		2033	4187	6220	SO:0001583	missense	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3924C>G	22.37:g.28146942G>C	ENSP00000304956:p.Ile1308Met		A9Z1V9	Missense_Mutation	SNP	NULL	p.I1308M	ENST00000302326.4	37	c.3924	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062814	0.55432	.	.	ENSG00000169184	ENST00000302326	T	0.54479	0.57	3.41	1.13	0.20643	.	0.000000	0.64402	D	0.000003	T	0.52741	0.1753	N	0.19112	0.55	0.37189	D	0.903859	D	0.76494	0.999	D	0.83275	0.996	T	0.58405	-0.7642	10	0.87932	D	0	-13.789	8.8394	0.35133	0.1776:0.0:0.8224:0.0	.	1308	Q10571	MN1_HUMAN	M	1308	ENSP00000304956:I1308M	ENSP00000304956:I1308M	I	-	3	3	MN1	26476942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.567000	0.45956	0.348000	0.23949	0.561000	0.74099	ATC	MN1	-	NULL		0.587	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	G	NM_002430		28146942	-1	no_errors	ENST00000302326	ensembl	human	known	70_37	missense	SNP	1.000	C
MNT	4335	genome.wustl.edu	37	17	2291254	2291254	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2291254G>C	ENST00000174618.4	-	5	1302	c.897C>G	c.(895-897)ctC>ctG	p.L299L	MNT_ENST00000575394.1_3'UTR|MNT_ENST00000575374.1_5'UTR|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	299	Leucine-zipper.				cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCTCGTGCTTGAGCTCTGCCA	0.617																																																	0													64.0	49.0	54.0					17																	2291254		2200	4300	6500	SO:0001819	synonymous_variant	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.897C>G	17.37:g.2291254G>C			A8K6D1|D3DTI7|Q1ED38	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L299	ENST00000174618.4	37	c.897	CCDS11018.1	17																																																																																			MNT	-	superfamily_HLH_dom		0.617	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	G	NM_020310		2291254	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	silent	SNP	1.000	C
MORC3	23515	genome.wustl.edu	37	21	37728969	37728969	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:37728969G>C	ENST00000400485.1	+	10	1231	c.1155G>C	c.(1153-1155)atG>atC	p.M385I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	385					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGAATGAAATGAAAGTGAAGA	0.259																																																	0													79.0	78.0	78.0					21																	37728969		1807	4058	5865	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1155G>C	21.37:g.37728969G>C	ENSP00000383333:p.Met385Ile		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.M385I	ENST00000400485.1	37	c.1155	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133099	0.37630	.	.	ENSG00000159256	ENST00000400485	T	0.12774	2.65	5.92	5.92	0.95590	.	0.074122	0.85682	D	0.000000	T	0.09862	0.0242	N	0.14661	0.345	0.47659	D	0.999488	B	0.24721	0.11	B	0.22386	0.039	T	0.24584	-1.0156	10	0.09843	T	0.71	-27.0725	20.3151	0.98650	0.0:0.0:1.0:0.0	.	385	Q14149	MORC3_HUMAN	I	385	ENSP00000383333:M385I	ENSP00000383333:M385I	M	+	3	0	MORC3	36650839	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.955000	0.87856	2.809000	0.96659	0.467000	0.42956	ATG	MORC3	-	NULL		0.259	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	G	NM_015358		37728969	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	missense	SNP	1.000	C
MORF4L2	9643	genome.wustl.edu	37	X	102941730	102941730	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:102941730G>C	ENST00000422154.2	-	0	16				MORF4L2_ENST00000441076.2_5'Flank|MORF4L2-AS1_ENST00000435306.1_RNA|MORF4L2_ENST00000433176.2_Intron|MORF4L2_ENST00000423833.2_5'Flank|MORF4L2_ENST00000451301.1_5'UTR|MORF4L2_ENST00000360458.1_Intron|MORF4L2_ENST00000492116.1_Intron	NM_001142418.1|NM_001142424.1|NM_001142429.1	NP_001135890.1|NP_001135896.1|NP_001135901.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTAAGTTTTAGAATGTTCCAT	0.493																																																	0																																										SO:0001623	5_prime_UTR_variant	9643			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000422154.2:c.-488C>G	X.37:g.102941730G>C			B3KP92|D3DXA5|Q567V0|Q8J026	RNA	SNP	-	NULL	ENST00000422154.2	37	NULL	CCDS14512.1	X																																																																																			MORF4L2	-	-		0.493	MORF4L2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MORF4L2	HGNC	protein_coding		G	NM_012286		102941730	-1	no_errors	ENST00000498064	ensembl	human	known	70_37	rna	SNP	1.000	C
MPDZ	8777	genome.wustl.edu	37	9	13126745	13126745	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:13126745G>A	ENST00000319217.7	-	33	4738	c.4491C>T	c.(4489-4491)atC>atT	p.I1497I	MPDZ_ENST00000541718.1_Silent_p.I1497I|MPDZ_ENST00000546205.1_Silent_p.I1511I|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.I1497I|MPDZ_ENST00000381015.4_Silent_p.I1497I|MPDZ_ENST00000447879.1_Silent_p.I1464I|MPDZ_ENST00000538841.1_Silent_p.I356I|MPDZ_ENST00000536827.1_Silent_p.I1464I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1497	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTCTTCGCTGATAGCAATAC	0.403																																																	0													105.0	99.0	101.0					9																	13126745		1891	4117	6008	SO:0001819	synonymous_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4491C>T	9.37:g.13126745G>A			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.I1497	ENST00000319217.7	37	c.4491		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	G	NM_003829		13126745	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	silent	SNP	1.000	A
MPDZ	8777	genome.wustl.edu	37	9	13140004	13140004	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:13140004C>T	ENST00000319217.7	-	28	4232	c.3985G>A	c.(3985-3987)Gag>Aag	p.E1329K	MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1329K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1343K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1329K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1329K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1296K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E188K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1296K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1329					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAACCAAACTCATCCTCTTTG	0.438																																																	0													167.0	172.0	171.0					9																	13140004		1945	4148	6093	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3985G>A	9.37:g.13140004C>T	ENSP00000320006:p.Glu1329Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E1329K	ENST00000319217.7	37	c.3985		9	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695554	0.68386	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.50001	2.81;2.76;2.76;2.66;2.72;2.78;2.82;2.81;2.8;0.76	5.94	5.94	0.96194	.	0.000000	0.47455	D	0.000227	T	0.63827	0.2544	L	0.51422	1.61	0.80722	D	1	D;B;P;D;P	0.76494	0.991;0.415;0.945;0.999;0.945	P;B;P;D;P	0.65684	0.772;0.334;0.641;0.937;0.641	T	0.55860	-0.8074	10	0.33141	T	0.24	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1296;188;1296;1209;1329	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	K	1329;1329;1329;265;188;1296;1296;1329;1209;1343;151	ENSP00000320006:E1329K;ENSP00000439807:E1329K;ENSP00000370410:E1329K;ENSP00000444230:E265K;ENSP00000444717:E188K;ENSP00000444151:E1296K;ENSP00000415208:E1296K;ENSP00000370403:E1329K;ENSP00000446358:E1343K;ENSP00000389705:E151K	ENSP00000320006:E1329K	E	-	1	0	MPDZ	13130004	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.416000	0.73332	2.812000	0.96745	0.557000	0.71058	GAG	MPDZ	-	superfamily_PDZ		0.438	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13140004	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T
MPHOSPH8	54737	genome.wustl.edu	37	13	20240607	20240607	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:20240607G>C	ENST00000361479.5	+	10	2130	c.2062G>C	c.(2062-2064)Gaa>Caa	p.E688Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E688Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	688					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACTCGTAATTGAATGTGGAGC	0.433																																																	0													191.0	162.0	172.0					13																	20240607		2203	4300	6503	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2062G>C	13.37:g.20240607G>C	ENSP00000355388:p.Glu688Gln		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.E688Q	ENST00000361479.5	37	c.2062	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638903	0.67130	.	.	ENSG00000196199	ENST00000414242;ENST00000360754;ENST00000361479	T;T	0.64991	-0.13;-0.13	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	L	0.31845	0.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74979	-0.3479	10	0.87932	D	0	.	19.9944	0.97379	0.0:0.0:1.0:0.0	.	688;688	Q99549;Q99549-2	MPP8_HUMAN;.	Q	688;17;688	ENSP00000414663:E688Q;ENSP00000355388:E688Q	ENSP00000353982:E17Q	E	+	1	0	MPHOSPH8	19138607	1.000000	0.71417	0.976000	0.42696	0.342000	0.28953	9.121000	0.94375	2.720000	0.93068	0.557000	0.71058	GAA	MPHOSPH8	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.433	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	G	NM_017520		20240607	+1	no_errors	ENST00000414242	ensembl	human	known	70_37	missense	SNP	1.000	C
MRGPRF	116535	genome.wustl.edu	37	11	68773105	68773105	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:68773105C>T	ENST00000309099.6	-	3	1055	c.673G>A	c.(673-675)Gag>Aag	p.E225K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E225K|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	225						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCACTCCACGTGCAGG	0.647																																																	0													28.0	22.0	24.0					11																	68773105		2167	4243	6410	SO:0001583	missense	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.673G>A	11.37:g.68773105C>T	ENSP00000309782:p.Glu225Lys		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E225K	ENST00000309099.6	37	c.673	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510272	0.64522	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.34275	1.37;1.37	5.25	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000703	T	0.29093	0.0723	L	0.42245	1.32	0.09310	N	1	P	0.38280	0.625	B	0.43658	0.426	T	0.15521	-1.0434	10	0.08179	T	0.78	-21.036	8.1354	0.31052	0.17:0.5006:0.3294:0.0	.	225	Q96AM1	MRGRF_HUMAN	K	225;225;197	ENSP00000403660:E225K;ENSP00000309782:E225K	ENSP00000309782:E225K	E	-	1	0	MRGPRF	68529681	0.000000	0.05858	0.175000	0.22980	0.992000	0.81027	0.084000	0.14891	0.603000	0.29913	0.561000	0.74099	GAG	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.647	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	C	NM_145015		68773105	-1	no_errors	ENST00000309099	ensembl	human	known	70_37	missense	SNP	0.023	T
CCDC130	81576	genome.wustl.edu	37	19	13875437	13875437	+	IGR	SNP	C	C	A	rs137877795	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13875437C>A	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.S12Y|MRI1_ENST00000040663.6_Missense_Mutation_p.S12Y			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCGCGGGGCTCCCTGCAGATC	0.692																																																	0													27.0	30.0	29.0					19																	13875437		2198	4293	6491	SO:0001628	intergenic_variant	84245			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875437C>A			Q9BQ72	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.S12Y	ENST00000586600.1	37	c.35	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756698	0.49362	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.31247	1.5;1.5	5.08	5.08	0.68730	.	0.137927	0.48286	D	0.000187	T	0.62527	0.2435	M	0.91090	3.175	0.58432	D	0.999996	D;P	0.76494	0.999;0.761	D;P	0.69479	0.964;0.511	T	0.68454	-0.5404	10	0.45353	T	0.12	-21.3713	15.9996	0.80285	0.0:1.0:0.0:0.0	.	12;12	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	Y	12	ENSP00000040663:S12Y;ENSP00000314871:S12Y	ENSP00000040663:S12Y	S	+	2	0	MRI1	13736437	0.998000	0.40836	0.984000	0.44739	0.257000	0.26127	4.001000	0.57046	2.651000	0.90000	0.655000	0.94253	TCC	MRI1	-	tigrfam_IF-2BI_MTNA		0.692	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	C	NM_030818		13875437	+1	no_errors	ENST00000040663	ensembl	human	known	70_37	missense	SNP	0.998	A
MRPS24	64951	genome.wustl.edu	37	7	43908607	43908607	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43908607G>A	ENST00000317534.5	-	3	236	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	MRPS24_ENST00000467084.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Missense_Mutation_p.A104V	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	59					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGTAGTGCGGCGCGTGTGCC	0.617																																																	0													88.0	79.0	82.0					7																	43908607		2203	4300	6503	SO:0001583	missense	64951			AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.175C>T	7.37:g.43908607G>A	ENSP00000318158:p.Pro59Ser		A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	NULL	p.P59S	ENST00000317534.5	37	c.175	CCDS5473.1	7	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723864	0.89298	.	.	ENSG00000062582	ENST00000317534	T	0.69040	-0.37	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85020	0.0911	9	0.72032	D	0.01	.	15.2475	0.73517	0.0:0.0:1.0:0.0	.	59	Q96EL2	RT24_HUMAN	S	59	ENSP00000318158:P59S	ENSP00000318158:P59S	P	-	1	0	MRPS24	43875132	1.000000	0.71417	0.993000	0.49108	0.458000	0.32498	6.960000	0.76036	2.177000	0.69029	0.563000	0.77884	CCG	MRPS24	-	NULL		0.617	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS24	HGNC	protein_coding	OTTHUMT00000250949.1	G	NM_032014		43908607	-1	no_errors	ENST00000317534	ensembl	human	known	70_37	missense	SNP	1.000	A
MSH4	4438	genome.wustl.edu	37	1	76282183	76282183	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76282183C>T	ENST00000263187.3	+	6	1045	c.941C>T	c.(940-942)tCa>tTa	p.S314L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	314					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATGATAGATTCATCATCAGCC	0.279								Mismatch excision repair (MMR)																																									0													60.0	62.0	61.0					1																	76282183		2203	4300	6503	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.941C>T	1.37:g.76282183C>T	ENSP00000263187:p.Ser314Leu		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.S314L	ENST00000263187.3	37	c.941	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731580	0.30684	.	.	ENSG00000057468	ENST00000263187	D	0.91792	-2.91	5.44	5.44	0.79542	DNA mismatch repair protein MutS, connector (1);DNA mismatch repair protein MutS, core (1);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.47716	1.5	0.50632	D	0.999885	B	0.25486	0.127	B	0.31869	0.137	D	0.86630	0.1885	10	0.72032	D	0.01	-7.6423	19.2675	0.93996	0.0:1.0:0.0:0.0	.	314	O15457	MSH4_HUMAN	L	314	ENSP00000263187:S314L	ENSP00000263187:S314L	S	+	2	0	MSH4	76054771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.573000	0.86826	0.655000	0.94253	TCA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt		0.279	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	C	NM_002440		76282183	+1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	T
MSI1	4440	genome.wustl.edu	37	12	120789175	120789175	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:120789175C>T	ENST00000257552.2	-	11	850	c.762G>A	c.(760-762)ccG>ccA	p.P254P	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	254					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGGCGCTCGGGAGAGGGG	0.562																																																	0													39.0	41.0	40.0					12																	120789175		2203	4300	6503	SO:0001819	synonymous_variant	4440			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.762G>A	12.37:g.120789175C>T			Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P254	ENST00000257552.2	37	c.762	CCDS9196.1	12																																																																																			MSI1	-	NULL		0.562	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	C	NM_002442		120789175	-1	no_errors	ENST00000257552	ensembl	human	known	70_37	silent	SNP	1.000	T
MTMR11	10903	genome.wustl.edu	37	1	149903282	149903282	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:149903282G>A	ENST00000439741.2	-	13	1410	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.S315L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	387	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGGACGAGTGAAGAGAGGAG	0.537																																																	0													68.0	64.0	65.0					1																	149903282		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1160C>T	1.37:g.149903282G>A	ENSP00000391668:p.Ser387Leu		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.S387L	ENST00000439741.2	37	c.1160	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556088	0.86231	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.96136	-3.92;-3.92	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.136711	0.51477	D	0.000093	D	0.97977	0.9334	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98070	1.0398	10	0.87932	D	0	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	315;387	A4FU01-4;A4FU01	.;MTMRB_HUMAN	L	315;387	ENSP00000358136:S315L;ENSP00000391668:S387L	ENSP00000358136:S315L	S	-	2	0	MTMR11	148169906	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.953000	0.63624	2.941000	0.99782	0.655000	0.94253	TCA	MTMR11	-	NULL		0.537	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149903282	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	1.000	A
MTMR3	8897	genome.wustl.edu	37	22	30394787	30394787	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:30394787G>A	ENST00000401950.2	+	8	840	c.498G>A	c.(496-498)gaG>gaA	p.E166E	MTMR3_ENST00000351488.3_Silent_p.E166E|MTMR3_ENST00000333027.3_Silent_p.E166E|MTMR3_ENST00000323630.5_Silent_p.E30E|MTMR3_ENST00000406629.1_Silent_p.E166E	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	166	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACGAGGTGGAGAGGATGGGTT	0.428																																																	0													120.0	106.0	111.0					22																	30394787		2203	4300	6503	SO:0001819	synonymous_variant	8897			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.498G>A	22.37:g.30394787G>A			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E166	ENST00000401950.2	37	c.498	CCDS13870.1	22																																																																																			MTMR3	-	NULL		0.428	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	G	NM_021090		30394787	+1	no_errors	ENST00000401950	ensembl	human	known	70_37	silent	SNP	1.000	A
MTO1	25821	genome.wustl.edu	37	6	74192328	74192328	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:74192328G>T	ENST00000370300.4	+	10	1787	c.1697G>T	c.(1696-1698)aGa>aTa	p.R566I	MTO1_ENST00000498286.1_Missense_Mutation_p.R541I|MTO1_ENST00000415954.2_Missense_Mutation_p.R581I|MTO1_ENST00000370305.1_Missense_Mutation_p.R492I	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	566					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGTACTAGTAGAAGTCTGCCT	0.313																																																	0													47.0	51.0	49.0					6																	74192328		2199	4299	6498	SO:0001583	missense	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1697G>T	6.37:g.74192328G>T	ENSP00000359323:p.Arg566Ile		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.R581I	ENST00000370300.4	37	c.1742	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851442	0.32699	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300;ENST00000521156	.	.	.	5.37	-0.901	0.10540	.	0.337883	0.34046	N	0.004318	T	0.04679	0.0127	N	0.01809	-0.71	0.09310	N	0.999999	B;P;B;B	0.46220	0.017;0.874;0.004;0.005	B;P;B;B	0.45071	0.062;0.468;0.039;0.017	T	0.49643	-0.8918	9	0.21014	T	0.42	-4.7248	12.9	0.58121	0.3197:0.0:0.6803:0.0	.	581;444;541;566	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	I	581;541;444;492;566;96	.	ENSP00000350506:R444I	R	+	2	0	MTO1	74249049	0.375000	0.25089	0.028000	0.17463	0.962000	0.63368	0.604000	0.24164	-0.300000	0.08895	0.460000	0.39030	AGA	MTO1	-	NULL		0.313	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	G	NM_012123		74192328	+1	no_errors	ENST00000415954	ensembl	human	known	70_37	missense	SNP	0.000	T
MTTP	4547	genome.wustl.edu	37	4	100516030	100516030	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:100516030G>A	ENST00000265517.5	+	7	1102	c.899G>A	c.(898-900)gGa>gAa	p.G300E	MTTP_ENST00000511045.1_Missense_Mutation_p.G327E|MTTP_ENST00000457717.1_Missense_Mutation_p.G300E|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	300	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CACTGTAAAGGATGTCCTTCT	0.433																																																	0													97.0	90.0	92.0					4																	100516030		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.899G>A	4.37:g.100516030G>A	ENSP00000265517:p.Gly300Glu		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G300E	ENST00000265517.5	37	c.899	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610851	0.14066	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.39056	1.1;1.1;1.1	4.96	2.25	0.28309	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (1);	0.521762	0.23211	N	0.050677	T	0.32436	0.0829	M	0.64997	1.995	0.29750	N	0.836428	B;B	0.14012	0.009;0.004	B;B	0.17098	0.017;0.007	T	0.33828	-0.9853	10	0.07030	T	0.85	-27.7151	7.4397	0.27176	0.3943:0.0:0.6057:0.0	.	327;300	E9PBP6;P55157	.;MTP_HUMAN	E	327;300;300;300	ENSP00000427679:G327E;ENSP00000400821:G300E;ENSP00000265517:G300E	ENSP00000265517:G300E	G	+	2	0	MTTP	100735053	0.947000	0.32204	0.841000	0.33234	0.184000	0.23303	2.748000	0.47483	0.603000	0.29913	0.563000	0.77884	GGA	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	G			100516030	+1	no_errors	ENST00000265517	ensembl	human	known	70_37	missense	SNP	0.506	A
MUC16	94025	genome.wustl.edu	37	19	9065029	9065029	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9065029G>A	ENST00000397910.4	-	3	22620	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7475	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGAGAAAGGATGAATTTTC	0.473																																																	0													194.0	178.0	183.0					19																	9065029		1949	4149	6098	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22417C>T	19.37:g.9065029G>A	ENSP00000381008:p.Pro7473Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P7473S	ENST00000397910.4	37	c.22417	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	5.137	0.210868	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.26957	1.7	2.52	-0.00975	0.13999	.	.	.	.	.	T	0.26774	0.0655	N	0.24115	0.695	.	.	.	D	0.55172	0.97	P	0.57324	0.818	T	0.38156	-0.9674	8	0.87932	D	0	.	7.852	0.29459	0.0:0.5154:0.4846:0.0	.	7473	B5ME49	.	S	7473	ENSP00000381008:P7473S	ENSP00000381008:P7473S	P	-	1	0	MUC16	8926029	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.093000	0.03362	0.073000	0.16731	0.494000	0.49563	CCT	MUC16	-	NULL		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9065029	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC16	94025	genome.wustl.edu	37	19	9071439	9071439	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9071439G>A	ENST00000397910.4	-	3	16210	c.16007C>T	c.(16006-16008)tCt>tTt	p.S5336F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5338	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCAGGGAAGACACAGAGCT	0.542																																																	0													104.0	108.0	106.0					19																	9071439		2042	4197	6239	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16007C>T	19.37:g.9071439G>A	ENSP00000381008:p.Ser5336Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5336F	ENST00000397910.4	37	c.16007	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	3.028	-0.200244	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.36520	1.25	2.21	1.1	0.20463	.	.	.	.	.	T	0.26738	0.0654	N	0.17082	0.46	.	.	.	D	0.59357	0.985	P	0.49477	0.612	T	0.31916	-0.9926	8	0.87932	D	0	.	5.9334	0.19152	0.0:0.0:0.6908:0.3092	.	5336	B5ME49	.	F	5336	ENSP00000381008:S5336F	ENSP00000381008:S5336F	S	-	2	0	MUC16	8932439	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.265000	0.18515	0.450000	0.26774	0.305000	0.20034	TCT	MUC16	-	NULL		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071439	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.005	A
MUC16	94025	genome.wustl.edu	37	19	9077593	9077593	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:9077593G>C	ENST00000397910.4	-	3	10056	c.9853C>G	c.(9853-9855)Ctc>Gtc	p.L3285V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3286	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGGGAGAGGGAGACCCTT	0.547																																																	0													104.0	107.0	106.0					19																	9077593		2072	4195	6267	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9853C>G	19.37:g.9077593G>C	ENSP00000381008:p.Leu3285Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L3285V	ENST00000397910.4	37	c.9853	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.034	0.374551	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.92	0.821	0.18799	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	.	.	.	P	0.50710	0.938	P	0.50754	0.649	T	0.46005	-0.9222	8	0.87932	D	0	.	6.2141	0.20646	0.0:0.3186:0.6814:0.0	.	3285	B5ME49	.	V	3285	ENSP00000381008:L3285V	ENSP00000381008:L3285V	L	-	1	0	MUC16	8938593	0.000000	0.05858	0.029000	0.17559	0.496000	0.33645	-1.176000	0.03099	0.340000	0.23745	0.313000	0.20887	CTC	MUC16	-	NULL		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9077593	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.042	C
MUC17	140453	genome.wustl.edu	37	7	100676823	100676823	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100676823C>G	ENST00000306151.4	+	3	2190	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	709	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCCTTTCAACAACTCCT	0.502																																																	0													335.0	339.0	338.0					7																	100676823		2203	4300	6503	SO:0001587	stop_gained	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2126C>G	7.37:g.100676823C>G	ENSP00000302716:p.Ser709*		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S709*	ENST00000306151.4	37	c.2126	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511819	0.85389	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.33	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.7039	0.34343	0.0:1.0:0.0:0.0	.	.	.	.	X	709	.	ENSP00000302716:S709X	S	+	2	0	MUC17	100463543	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.159000	0.10056	1.080000	0.41073	0.395000	0.25975	TCA	MUC17	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100676823	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	nonsense	SNP	0.029	G
MUC4	4585	genome.wustl.edu	37	3	195513270	195513270	+	Silent	SNP	C	C	T	rs2432528	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:195513270C>T	ENST00000463781.3	-	2	5640	c.5181G>A	c.(5179-5181)acG>acA	p.T1727T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T1727T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGGCGTGGTGTCAC	0.602																																																	0													24.0	24.0	24.0					3																	195513270		685	1583	2268	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5181G>A	3.37:g.195513270C>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T1727	ENST00000463781.3	37	c.5181	CCDS54700.1	3																																																																																			MUC4	-	NULL		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195513270	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.669	T
MUC5B	727897	genome.wustl.edu	37	11	1268333	1268333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1268333C>G	ENST00000529681.1	+	31	10281	c.10223C>G	c.(10222-10224)tCa>tGa	p.S3408*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.S3411*|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3408	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		aacccctcctcaactccaggg	0.637																																																	0													155.0	187.0	176.0					11																	1268333		2094	4141	6235	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10223C>G	11.37:g.1268333C>G	ENSP00000436812:p.Ser3408*		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3411*	ENST00000529681.1	37	c.10232	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	50	16.738244	0.99870	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000538459	.	.	.	3.87	-7.09	0.01553	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.8412	0.13491	0.1076:0.3238:0.4233:0.1452	.	.	.	.	X	3408;3411;3380;287	.	ENSP00000343037:S3380X	S	+	2	0	MUC5B	1224909	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.041000	0.12084	-1.438000	0.01965	0.305000	0.20034	TCA	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1268333	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.000	G
MUC5B	727897	genome.wustl.edu	37	11	1275346	1275346	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1275346C>T	ENST00000529681.1	+	34	15300	c.15242C>T	c.(15241-15243)tCc>tTc	p.S5081F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S5084F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5081	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGGGCGGCTCCCACTATTCC	0.622																																																	0													51.0	60.0	57.0					11																	1275346		2119	4241	6360	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15242C>T	11.37:g.1275346C>T	ENSP00000436812:p.Ser5081Phe		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S5084F	ENST00000529681.1	37	c.15251	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	2.972	-0.212321	0.06140	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60672	0.17;0.17	4.35	2.35	0.29111	.	.	.	.	.	T	0.66356	0.2781	L	0.46157	1.445	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.60949	0.881;0.881	T	0.59263	-0.7487	9	0.87932	D	0	.	13.1543	0.59508	0.0:0.7055:0.2945:0.0	.	5416;5084	A7Y9J9;E9PBJ0	.;.	F	5081;5084;5025;4793	ENSP00000436812:S5081F;ENSP00000415793:S5084F	ENSP00000343037:S5025F	S	+	2	0	MUC5B	1231922	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.453000	0.21811	0.351000	0.24027	0.400000	0.26472	TCC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1275346	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.048	T
MUC5B	727897	genome.wustl.edu	37	11	1276305	1276305	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:1276305C>G	ENST00000529681.1	+	36	15757	c.15699C>G	c.(15697-15699)ctC>ctG	p.L5233L	MUC5B_ENST00000447027.1_Silent_p.L5236L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5233	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGACTGTCTCCAGCGGGACG	0.672																																																	0													20.0	27.0	25.0					11																	1276305		2099	4184	6283	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15699C>G	11.37:g.1276305C>G			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L5236	ENST00000529681.1	37	c.15708	CCDS44515.2	11																																																																																			MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1276305	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.727	G
MYBBP1A	10514	genome.wustl.edu	37	17	4455782	4455782	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:4455782C>T	ENST00000254718.4	-	6	1007	c.701G>A	c.(700-702)gGa>gAa	p.G234E	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G234E			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	234	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTTCACGGATCCCACCAGCTT	0.572																																																	0													66.0	61.0	63.0					17																	4455782		2203	4300	6503	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.701G>A	17.37:g.4455782C>T	ENSP00000254718:p.Gly234Glu		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.G234E	ENST00000254718.4	37	c.701	CCDS11046.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486418	0.84854	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.19532	2.14;2.14	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06197	-1.0840	10	0.15952	T	0.53	-18.0522	17.084	0.86605	0.0:1.0:0.0:0.0	.	234;234	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	E	234	ENSP00000370968:G234E;ENSP00000254718:G234E	ENSP00000254718:G234E	G	-	2	0	MYBBP1A	4402531	1.000000	0.71417	0.928000	0.36995	0.487000	0.33371	6.229000	0.72294	2.894000	0.99253	0.655000	0.94253	GGA	MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold		0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2	C	NM_014520		4455782	-1	no_errors	ENST00000381556	ensembl	human	known	70_37	missense	SNP	1.000	T
MYBPC2	4606	genome.wustl.edu	37	19	50965290	50965290	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:50965290G>A	ENST00000357701.5	+	26	3276	c.3225G>A	c.(3223-3225)ccG>ccA	p.P1075P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1075	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGGCCACCCGAAGGTGCCAG	0.592																																																	0													24.0	25.0	24.0					19																	50965290		2040	4184	6224	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.3225G>A	19.37:g.50965290G>A			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1075	ENST00000357701.5	37	c.3225	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50965290	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.005	A
MYH10	4628	genome.wustl.edu	37	17	8397165	8397165	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:8397165C>G	ENST00000269243.4	-	30	4140	c.4002G>C	c.(4000-4002)ctG>ctC	p.L1334L	MYH10_ENST00000360416.3_Silent_p.L1365L|MYH10_ENST00000396239.1_Silent_p.L1355L|MYH10_ENST00000379980.4_Silent_p.L1350L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1334					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGACTGCTCAGGTTTAGTT	0.493																																																	0													120.0	115.0	116.0					17																	8397165		2203	4300	6503	SO:0001819	synonymous_variant	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4002G>C	17.37:g.8397165C>G			B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1355	ENST00000269243.4	37	c.4065	CCDS11144.1	17																																																																																			MYH10	-	pfam_Myosin_tail		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8397165	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	silent	SNP	0.985	G
MYH13	8735	genome.wustl.edu	37	17	10261124	10261124	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10261124G>C	ENST00000418404.3	-	7	829	c.666C>G	c.(664-666)atC>atG	p.I222M	MYH13_ENST00000252172.4_Missense_Mutation_p.I222M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	222	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCCTGGATGATCTGATCCT	0.443																																																	0													89.0	96.0	94.0					17																	10261124		2175	4293	6468	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.666C>G	17.37:g.10261124G>C	ENSP00000404570:p.Ile222Met		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I222M	ENST00000418404.3	37	c.666	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457429	0.43634	.	.	ENSG00000006788	ENST00000252172	D	0.90261	-2.64	3.94	0.698	0.18087	Myosin head, motor domain (2);	.	.	.	.	D	0.96275	0.8785	H	0.98133	4.155	0.33543	D	0.595184	D	0.53312	0.959	D	0.72338	0.977	D	0.94208	0.7456	9	0.87932	D	0	.	6.5345	0.22346	0.1595:0.0:0.696:0.1444	.	222	Q9UKX3	MYH13_HUMAN	M	222	ENSP00000252172:I222M	ENSP00000252172:I222M	I	-	3	3	MYH13	10201849	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	2.594000	0.46189	0.087000	0.17167	-0.363000	0.07495	ATC	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.443	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	G	NM_003802		10261124	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH2	4620	genome.wustl.edu	37	17	10429087	10429087	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10429087C>T	ENST00000245503.5	-	31	4678	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1432Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAGGTCCTCGACCTCATTC	0.542																																																	1	Substitution - Missense(1)	lung(1)											87.0	81.0	83.0					17																	10429087		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4294G>A	17.37:g.10429087C>T	ENSP00000245503:p.Glu1432Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1432K	ENST00000245503.5	37	c.4294	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.362439	0.95877	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.81659	-1.52;-1.52	4.9	4.9	0.64082	Myosin tail (1);	0.000000	0.39687	U	0.001290	D	0.89914	0.6853	M	0.91872	3.25	0.58432	D	0.999999	P	0.52316	0.952	P	0.54238	0.746	D	0.92366	0.5901	10	0.87932	D	0	.	18.2698	0.90064	0.0:1.0:0.0:0.0	.	1432	Q9UKX2	MYH2_HUMAN	K	1432	ENSP00000245503:E1432K;ENSP00000380367:E1432K	ENSP00000245503:E1432K	E	-	1	0	MYH2	10369812	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.651000	0.83577	2.558000	0.86282	0.313000	0.20887	GAG	MYH2	-	pfam_Myosin_tail		0.542	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10429087	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	T
MYCBPAP	84073	genome.wustl.edu	37	17	48600348	48600348	+	Missense_Mutation	SNP	G	G	A	rs376168122		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:48600348G>A	ENST00000323776.5	+	11	1597	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E442K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTAGAAGGCGAGAAAACCTC	0.522																																																	0													104.0	102.0	102.0					17																	48600348		2203	4300	6503	SO:0001583	missense	84073			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1435G>A	17.37:g.48600348G>A	ENSP00000323184:p.Glu479Lys			Missense_Mutation	SNP	NULL	p.E479K	ENST00000323776.5	37	c.1435	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792862	0.50102	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.49139	0.79;0.79	5.83	3.77	0.43336	.	0.053672	0.64402	D	0.000001	T	0.49115	0.1538	M	0.67953	2.075	0.40732	D	0.982753	P	0.51449	0.945	B	0.41691	0.364	T	0.59161	-0.7506	10	0.66056	D	0.02	-26.3012	16.3622	0.83271	0.0:0.2492:0.7508:0.0	.	442	Q8TBZ2	MYBPP_HUMAN	K	479;442	ENSP00000323184:E479K;ENSP00000397209:E442K	ENSP00000323184:E479K	E	+	1	0	MYCBPAP	45955347	0.999000	0.42202	0.826000	0.32828	0.004000	0.04260	2.745000	0.47459	0.739000	0.32628	0.655000	0.94253	GAG	MYCBPAP	-	NULL		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	G	NM_032133		48600348	+1	no_errors	ENST00000323776	ensembl	human	known	70_37	missense	SNP	0.984	A
MYH6	4624	genome.wustl.edu	37	14	23863481	23863481	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:23863481C>G	ENST00000356287.3	-	20	2510	c.2481G>C	c.(2479-2481)aaG>aaC	p.K827N	MYH6_ENST00000405093.3_Missense_Mutation_p.K827N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	827					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGGCCAATTCTTGACCCCCA	0.557																																																	0													81.0	76.0	78.0					14																	23863481		2203	4297	6500	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2481G>C	14.37:g.23863481C>G	ENSP00000348634:p.Lys827Asn		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K827N	ENST00000356287.3	37	c.2481	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	c	18.47	3.630424	0.67015	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.76186	-1.0;-1.0	4.57	4.57	0.56435	.	.	.	.	.	D	0.88797	0.6534	H	0.94847	3.59	0.54753	D	0.999981	D	0.76494	0.999	D	0.87578	0.998	D	0.90954	0.4807	9	0.87932	D	0	.	11.2931	0.49263	0.0:0.9157:0.0:0.0843	.	827	P13533	MYH6_HUMAN	N	827	ENSP00000386041:K827N;ENSP00000348634:K827N	ENSP00000348634:K827N	K	-	3	2	MYH6	22933321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	2.274000	0.75844	0.555000	0.69702	AAG	MYH6	-	NULL		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23863481	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10297722	10297722	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10297722G>A	ENST00000403437.2	-	35	5104	c.5010C>T	c.(5008-5010)ctC>ctT	p.L1670L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1670					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGTTCCTTGAGGTCCTCCT	0.522									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													78.0	73.0	74.0					17																	10297722		2203	4300	6503	SO:0001819	synonymous_variant	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5010C>T	17.37:g.10297722G>A			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1670	ENST00000403437.2	37	c.5010	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail		0.522	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10297722	-1	no_errors	ENST00000403437	ensembl	human	known	70_37	silent	SNP	0.999	A
MYL12A	10627	genome.wustl.edu	37	18	3255744	3255744	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:3255744G>A	ENST00000217652.3	+	4	739	c.344G>A	c.(343-345)gGc>gAc	p.G115D	MYL12A_ENST00000578611.1_Splice_Site_p.G115D|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Splice_Site_p.G121D|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Splice_Site_p.G115D|MYL12A_ENST00000536605.1_Splice_Site_p.G115D	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	115	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						TATTCTCCAGGCACCATACAG	0.398																																																	0													78.0	73.0	75.0					18																	3255744		2203	4300	6503	SO:0001630	splice_region_variant	10627			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.344-1G>A	18.37:g.3255744G>A			Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G115D	ENST00000217652.3	37	c.344	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403755	0.83230	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	D;D	0.85484	-1.99;-1.99	5.11	5.11	0.69529	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.98089	4.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.97177	0.9848	9	.	.	.	.	18.7353	0.91751	0.0:0.0:1.0:0.0	.	115;115	Q53X45;P19105	.;ML12A_HUMAN	D	115	ENSP00000217652:G115D;ENSP00000441231:G115D	.	G	+	2	0	MYL12A	3245744	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.263000	0.95617	2.657000	0.90304	0.555000	0.69702	GGC	MYL12A	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.398	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	G	NM_006471	Missense_Mutation	3255744	+1	no_errors	ENST00000217652	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO1C	4641	genome.wustl.edu	37	17	1371352	1371352	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:1371352G>C	ENST00000575158.1	-	28	2897	c.2721C>G	c.(2719-2721)ctC>ctG	p.L907L	MYO1C_ENST00000361007.2_Silent_p.L907L|MYO1C_ENST00000438665.2_Silent_p.L923L|MYO1C_ENST00000359786.5_Silent_p.L942L|MYO1C_ENST00000545534.2_Silent_p.L918L			Q12965	MYO1E_HUMAN	myosin IC	786	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGTTGGGCGTGAGCAGCAGCT	0.637																																																	0													62.0	57.0	59.0					17																	1371352		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2721C>G	17.37:g.1371352G>C			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L942	ENST00000575158.1	37	c.2826	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_tail_2		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1371352	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	C
MYO1D	4642	genome.wustl.edu	37	17	31048064	31048064	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:31048064C>T	ENST00000318217.5	-	15	2194	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q	MYO1D_ENST00000579584.1_Silent_p.Q630Q|MYO1D_ENST00000394649.4_Silent_p.Q542Q	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	630	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTCGTATGTCTGGCGGAAGG	0.488																																																	0													137.0	136.0	136.0					17																	31048064		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1890G>A	17.37:g.31048064C>T			A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q630	ENST00000318217.5	37	c.1890	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.488	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	C			31048064	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO7A	4647	genome.wustl.edu	37	11	76871234	76871234	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:76871234G>A	ENST00000409709.3	+	11	1378	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	MYO7A_ENST00000409619.2_Missense_Mutation_p.C358Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.C369Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.C369Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	369	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGATGAGCTGCCTGACTAGC	0.662																																																	0													25.0	35.0	32.0					11																	76871234		2084	4179	6263	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1106G>A	11.37:g.76871234G>A	ENSP00000386331:p.Cys369Tyr		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.C369Y	ENST00000409709.3	37	c.1106	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	24.7	4.559068	0.86335	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.11	5.11	0.69529	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.77616	2.38	0.80722	D	1	D;D;D	0.61697	0.99;0.96;0.971	P;P;P	0.62560	0.871;0.844;0.904	D	0.93850	0.7144	10	0.87932	D	0	.	18.5314	0.90993	0.0:0.0:1.0:0.0	.	369;369;369	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Y	369;369;369;358;368;368;291;368	ENSP00000386331:C369Y;ENSP00000386689:C369Y;ENSP00000392185:C369Y;ENSP00000386635:C358Y	ENSP00000345075:C291Y	C	+	2	0	MYO7A	76548882	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.816000	0.99350	2.357000	0.79964	0.586000	0.80456	TGC	MYO7A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.662	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76871234	+1	no_errors	ENST00000409709	ensembl	human	known	70_37	missense	SNP	1.000	A
MYOF	26509	genome.wustl.edu	37	10	95121295	95121295	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:95121295G>A	ENST00000359263.4	-	28	2887	c.2888C>T	c.(2887-2889)tCa>tTa	p.S963L	MYOF_ENST00000358334.5_Missense_Mutation_p.S950L|MYOF_ENST00000371501.4_Missense_Mutation_p.S963L|MYOF_ENST00000371502.4_Missense_Mutation_p.S963L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	963					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGCTGGGTGATGCTGCTTT	0.423																																																	0													177.0	170.0	172.0					10																	95121295		1983	4160	6143	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2888C>T	10.37:g.95121295G>A	ENSP00000352208:p.Ser963Leu		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.S963L	ENST00000359263.4	37	c.2888	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245422	0.80024	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.292679	0.34435	N	0.003965	D	0.88366	0.6417	M	0.68593	2.085	0.46654	D	0.999149	P;P	0.44241	0.645;0.829	P;P	0.52267	0.694;0.511	D	0.87674	0.2543	10	0.52906	T	0.07	-13.2223	20.0912	0.97820	0.0:0.0:1.0:0.0	.	950;963	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	950;963;963;963	ENSP00000351094:S950L;ENSP00000352208:S963L;ENSP00000360556:S963L;ENSP00000360557:S963L	ENSP00000351094:S950L	S	-	2	0	MYOF	95111285	0.879000	0.30193	0.999000	0.59377	0.896000	0.52359	4.707000	0.61852	2.746000	0.94184	0.591000	0.81541	TCA	MYOF	-	smart_Peroxin/Ferlin		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	G	NM_013451		95121295	-1	no_errors	ENST00000359263	ensembl	human	known	70_37	missense	SNP	0.930	A
MYOM3	127294	genome.wustl.edu	37	1	24384003	24384003	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:24384003C>T	ENST00000374434.3	-	37	4327	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E282K|MYOM3_ENST00000330966.7_Missense_Mutation_p.E1392K|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1389	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATGGTGACCTCTGTCCCCCTC	0.557																																																	0													103.0	102.0	102.0					1																	24384003		2020	4187	6207	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4165G>A	1.37:g.24384003C>T	ENSP00000363557:p.Glu1389Lys		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1392K	ENST00000374434.3	37	c.4174	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149898	0.37923	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.66995	-0.24;-0.24;-0.24	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.469233	0.22724	N	0.056401	T	0.41373	0.1156	N	0.02665	-0.54	0.25585	N	0.986759	P;B	0.35923	0.528;0.024	B;B	0.38156	0.266;0.061	T	0.29640	-1.0005	10	0.16896	T	0.51	.	13.258	0.60089	0.0:0.9209:0.0:0.0791	.	1389;282	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	282;1389;1392;283	ENSP00000342689:E282K;ENSP00000363557:E1389K;ENSP00000332670:E1392K	ENSP00000332670:E1392K	E	-	1	0	MYOM3	24256590	0.893000	0.30496	0.943000	0.38184	0.740000	0.42216	2.940000	0.49003	2.436000	0.82500	0.655000	0.94253	GAG	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.557	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	C	NM_152372		24384003	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	missense	SNP	0.336	T
MYT1L	23040	genome.wustl.edu	37	2	2057784	2057784	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:2057784G>A	ENST00000399161.2	-	0	556				MYT1L_ENST00000428368.2_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATACGTCTGTGAGACCAACTG	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.-192C>T	2.37:g.2057784G>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.368	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	G	NM_015025		2057784	-1	no_errors	ENST00000479156	ensembl	human	known	70_37	rna	SNP	0.000	A
MZB1	51237	genome.wustl.edu	37	5	138723467	138723467	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138723467C>G	ENST00000302125.8	-	4	614	c.557G>C	c.(556-558)aGa>aCa	p.R186T	MZB1_ENST00000412103.2_Missense_Mutation_p.R94T	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	186					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											GAGCTCTTCTCTTGTGGCTGA	0.607																																																	0													69.0	73.0	71.0					5																	138723467		1936	4150	6086	SO:0001583	missense	51237			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"""plasma cell-induced ER protein 1"", ""proapoptotic caspase adaptor protein"", ""mesenteric oestrogen-dependent adipose gene- 7"""	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.557G>C	5.37:g.138723467C>G	ENSP00000303920:p.Arg186Thr		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	NULL	p.R94T	ENST00000302125.8	37	c.281	CCDS47273.1	5	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787522	0.49997	.	.	ENSG00000170476	ENST00000302125;ENST00000412103	.	.	.	4.53	1.77	0.24775	.	.	.	.	.	T	0.25457	0.0619	L	0.34521	1.04	0.09310	N	0.999994	B;B;B	0.33694	0.421;0.403;0.18	B;B;B	0.33295	0.112;0.161;0.077	T	0.20806	-1.0264	8	0.87932	D	0	-16.922	5.9741	0.19369	0.0:0.6773:0.0:0.3227	.	186;94;186	D2IYS0;Q8WU39-3;Q8WU39	.;.;PERP1_HUMAN	T	186;94	.	ENSP00000303920:R186T	R	-	2	0	RP11-1280I22.1	138751366	0.010000	0.17322	0.067000	0.19924	0.011000	0.07611	0.634000	0.24614	0.648000	0.30732	0.462000	0.41574	AGA	MZB1	-	NULL		0.607	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1	C	NM_016459		138723467	-1	no_errors	ENST00000412103	ensembl	human	known	70_37	missense	SNP	0.019	G
MZB1	51237	genome.wustl.edu	37	5	138723536	138723536	+	Missense_Mutation	SNP	C	C	A	rs372851416		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:138723536C>A	ENST00000302125.8	-	4	545	c.488G>T	c.(487-489)cGa>cTa	p.R163L	MZB1_ENST00000412103.2_Missense_Mutation_p.R71L	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	163					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											CAGAGCCCCTCGGCCTTGTTG	0.592																																																	0													69.0	72.0	71.0					5																	138723536		1875	4104	5979	SO:0001583	missense	51237			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"""plasma cell-induced ER protein 1"", ""proapoptotic caspase adaptor protein"", ""mesenteric oestrogen-dependent adipose gene- 7"""	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.488G>T	5.37:g.138723536C>A	ENSP00000303920:p.Arg163Leu		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	Missense_Mutation	SNP	NULL	p.R71L	ENST00000302125.8	37	c.212	CCDS47273.1	5	.	.	.	.	.	.	.	.	.	.	C	5.774	0.327225	0.10900	.	.	ENSG00000170476	ENST00000302125;ENST00000412103	T	0.36520	1.25	4.7	-9.41	0.00613	.	.	.	.	.	T	0.25975	0.0633	L	0.40543	1.245	0.22918	N	0.998569	B;B;P	0.36282	0.174;0.275;0.546	B;B;B	0.30105	0.1;0.099;0.111	T	0.08269	-1.0730	9	0.33141	T	0.24	5.077	20.244	0.98389	0.0:0.7964:0.0:0.2036	.	163;71;163	D2IYS0;Q8WU39-3;Q8WU39	.;.;PERP1_HUMAN	L	163;71	ENSP00000303920:R163L	ENSP00000303920:R163L	R	-	2	0	RP11-1280I22.1	138751435	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.898000	0.00339	-2.142000	0.00804	-1.360000	0.01215	CGA	MZB1	-	NULL		0.592	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1	C	NM_016459		138723536	-1	no_errors	ENST00000412103	ensembl	human	known	70_37	missense	SNP	0.000	A
N4BP2L2	10443	genome.wustl.edu	37	13	33110303	33110303	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:33110303G>C	ENST00000267068.3	-	2	1026	c.862C>G	c.(862-864)Cat>Gat	p.H288D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.H288D|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	288					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGTTTAAATGATAGTTCAAA	0.373																																																	0													59.0	59.0	59.0					13																	33110303		2203	4300	6503	SO:0001583	missense	10443			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.862C>G	13.37:g.33110303G>C	ENSP00000267068:p.His288Asp		A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain	p.H288D	ENST00000267068.3	37	c.862	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357746	0.41801	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.50548	0.78;0.74;0.76	4.63	4.63	0.57726	.	.	.	.	.	T	0.59569	0.2203	L	0.59436	1.845	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.54544	0.755;0.755	T	0.65582	-0.6133	9	0.72032	D	0.01	-4.1963	17.5165	0.87775	0.0:0.0:1.0:0.0	.	288;288	D6R968;Q92802	.;N42L2_HUMAN	D	288	ENSP00000394239:H288D;ENSP00000423362:H288D;ENSP00000267068:H288D	ENSP00000267068:H288D	H	-	1	0	N4BP2L2	32008303	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.658000	0.68003	2.116000	0.64780	0.557000	0.71058	CAT	N4BP2L2	-	NULL		0.373	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1	G	NM_014887		33110303	-1	no_errors	ENST00000267068	ensembl	human	known	70_37	missense	SNP	0.997	C
N6AMT1	29104	genome.wustl.edu	37	21	30255320	30255320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:30255320G>A	ENST00000303775.5	-	2	233	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	N6AMT1_ENST00000351429.3_Nonsense_Mutation_p.Q70*	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	70					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TACAAAGCCTGAGGGCCTATC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											92.0	85.0	88.0					21																	30255320		2203	4300	6503	SO:0001587	stop_gained	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.208C>T	21.37:g.30255320G>A	ENSP00000303584:p.Gln70*		Q96F73	Nonsense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch	p.Q70*	ENST00000303775.5	37	c.208	CCDS33526.1	21	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689870	0.88735	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	.	.	.	5.34	5.34	0.76211	.	0.698726	0.14737	N	0.301410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.3943	11.3879	0.49796	0.0:0.0:0.7284:0.2716	.	.	.	.	X	70	.	ENSP00000303584:Q70X	Q	-	1	0	N6AMT1	29177191	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	3.005000	0.49521	2.781000	0.95711	0.650000	0.86243	CAG	N6AMT1	-	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch		0.343	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	HGNC	protein_coding	OTTHUMT00000171738.1	G	NM_013240		30255320	-1	no_errors	ENST00000303775	ensembl	human	known	70_37	nonsense	SNP	0.772	A
NAA15	80155	genome.wustl.edu	37	4	140270728	140270728	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:140270728C>G	ENST00000296543.5	+	7	1127	c.804C>G	c.(802-804)ctC>ctG	p.L268L	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.L268L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	268					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGCACTCAAGCCAGGTA	0.328																																																	0													48.0	45.0	46.0					4																	140270728		1795	4071	5866	SO:0001819	synonymous_variant	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.804C>G	4.37:g.140270728C>G			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L268	ENST00000296543.5	37	c.804	CCDS43270.1	4																																																																																			NAA15	-	pirsf_NatA_aux_su		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	C	NM_057175		140270728	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	silent	SNP	0.059	G
NAA35	60560	genome.wustl.edu	37	9	88633650	88633650	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:88633650C>G	ENST00000361671.5	+	21	2084	c.1951C>G	c.(1951-1953)Cag>Gag	p.Q651E		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	651					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CCCTCCTCCTCAGTCTCCTGA	0.388																																																	0													116.0	120.0	119.0					9																	88633650		2203	4300	6503	SO:0001583	missense	60560			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1951C>G	9.37:g.88633650C>G	ENSP00000354972:p.Gln651Glu		Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	pfam_NatC_AcTrfase_Mak10	p.Q651E	ENST00000361671.5	37	c.1951	CCDS6673.1	9	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163144	0.21538	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.5	5.5	0.81552	.	0.120353	0.64402	D	0.000016	T	0.36496	0.0969	N	0.04508	-0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28138	-1.0053	9	0.11182	T	0.66	-8.4641	19.3871	0.94563	0.0:1.0:0.0:0.0	.	651	Q5VZE5	NAA35_HUMAN	E	651	.	ENSP00000354972:Q651E	Q	+	1	0	NAA35	87823470	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.087000	0.71362	2.594000	0.87642	0.491000	0.48974	CAG	NAA35	-	NULL		0.388	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1	C	NM_024635		88633650	+1	no_errors	ENST00000361671	ensembl	human	known	70_37	missense	SNP	1.000	G
NAF1	92345	genome.wustl.edu	37	4	164069547	164069547	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:164069547C>T	ENST00000274054.2	-	3	773	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	NAF1_ENST00000422287.2_Missense_Mutation_p.E194K	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	194					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAATATCTTCAGGCAGAATA	0.299																																																	0													92.0	107.0	102.0					4																	164069547		2203	4291	6494	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.580G>A	4.37:g.164069547C>T	ENSP00000274054:p.Glu194Lys		D3DP28|E9PAZ2	Missense_Mutation	SNP	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel	p.E194K	ENST00000274054.2	37	c.580	CCDS3803.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338768	0.81911	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.38240	1.22;1.15	5.1	4.25	0.50352	.	0.064485	0.64402	D	0.000013	T	0.55449	0.1921	M	0.72894	2.215	0.44142	D	0.996937	D;D	0.64830	0.994;0.994	D;D	0.66716	0.926;0.946	T	0.54873	-0.8228	10	0.38643	T	0.18	-14.867	12.7254	0.57168	0.0:0.9201:0.0:0.0799	.	194;194	E9PAZ2;Q96HR8	.;NAF1_HUMAN	K	194	ENSP00000408963:E194K;ENSP00000274054:E194K	ENSP00000274054:E194K	E	-	1	0	NAF1	164288997	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.562000	0.60816	1.146000	0.42352	0.467000	0.42956	GAA	NAF1	-	pfam_H/ACA_rnp_Gar1/Naf1		0.299	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2	C	NM_138386		164069547	-1	no_errors	ENST00000274054	ensembl	human	known	70_37	missense	SNP	1.000	T
NAIF1	203245	genome.wustl.edu	37	9	130825812	130825812	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:130825812G>A	ENST00000373078.4	-	2	1098	c.879C>T	c.(877-879)atC>atT	p.I293I	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	293					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAATCTTTGATCATAGGCC	0.657																																																	0													62.0	66.0	65.0					9																	130825812		2203	4300	6503	SO:0001819	synonymous_variant	203245			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.879C>T	9.37:g.130825812G>A			B3KV81|Q8WU12	Silent	SNP	NULL	p.I293	ENST00000373078.4	37	c.879	CCDS6889.1	9																																																																																			NAIF1	-	NULL		0.657	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	G	NM_197956		130825812	-1	no_errors	ENST00000373078	ensembl	human	known	70_37	silent	SNP	0.458	A
NANOGP1	404635	genome.wustl.edu	37	12	8050863	8050863	+	RNA	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:8050863G>A	ENST00000607111.1	+	0	266							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						tcctgcaggtgaagacctggt	0.383																																																	0																																												404635			AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8050863G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V82	ENST00000607111.1	37	c.246		12																																																																																			NANOGP1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.383	NANOGP1-002	KNOWN	basic	processed_transcript	NANOGP1	HGNC	pseudogene	OTTHUMT00000470953.1	G			8050863	+1	no_errors	ENST00000530989	ensembl	human	known	70_37	silent	SNP	0.858	A
NAV1	89796	genome.wustl.edu	37	1	201781717	201781717	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:201781717G>A	ENST00000367296.4	+	27	5569	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N	NAV1_ENST00000295624.6_Missense_Mutation_p.D1714N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.D1670N|NAV1_ENST00000367297.4_Missense_Mutation_p.D1709N|NAV1_ENST00000367300.3_Missense_Mutation_p.D1657N|NAV1_ENST00000367295.1_Missense_Mutation_p.D1323N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1717					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCGGGTGCTCGACTGGGTACC	0.572																																																	0													200.0	175.0	184.0					1																	201781717		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5149G>A	1.37:g.201781717G>A	ENSP00000356265:p.Asp1717Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D1717N	ENST00000367296.4	37	c.5149	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.847040	0.97023	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.09073	3.11;3.02;3.03;3.03;3.11;3.03	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00168	-1.1963	10	0.62326	D	0.03	-33.8786	20.2501	0.98402	0.0:0.0:1.0:0.0	.	1323;1714	Q8NEY1-5;Q8NEY1-3	.;.	N	1670;1717;1714;1709;1657;1323;126	ENSP00000356271:D1670N;ENSP00000356265:D1717N;ENSP00000295624:D1714N;ENSP00000356266:D1709N;ENSP00000356269:D1657N;ENSP00000356264:D1323N	ENSP00000295624:D1714N	D	+	1	0	NAV1	200048340	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.761000	0.98940	2.880000	0.98712	0.650000	0.86243	GAC	NAV1	-	NULL		0.572	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201781717	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A
NAV2	89797	genome.wustl.edu	37	11	20078079	20078079	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:20078079C>T	ENST00000396087.3	+	21	5003	c.4904C>T	c.(4903-4905)tCa>tTa	p.S1635L	NAV2_ENST00000311043.8_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000540292.1_Missense_Mutation_p.S1566L|NAV2_ENST00000527559.2_Missense_Mutation_p.S1564L|NAV2_ENST00000349880.4_Intron	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1635	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAATCAGAATCATGGGAGAAA	0.378																																																	0													129.0	122.0	124.0					11																	20078079		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4904C>T	11.37:g.20078079C>T	ENSP00000379396:p.Ser1635Leu		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1635L	ENST00000396087.3	37	c.4904	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932791	0.34096	.	.	ENSG00000166833	ENST00000396087;ENST00000527559;ENST00000540292	T;T;T	0.28895	1.7;1.59;1.59	4.17	3.02	0.34903	.	2.292210	0.02269	N	0.068301	T	0.23451	0.0567	.	.	.	0.21527	N	0.999654	.	.	.	.	.	.	T	0.21109	-1.0255	6	.	.	.	.	5.3343	0.15949	0.0:0.1436:0.0:0.8564	.	.	.	.	L	1635;1564;1566	ENSP00000379396:S1635L;ENSP00000435395:S1564L;ENSP00000443489:S1566L	.	S	+	2	0	NAV2	20034655	0.001000	0.12720	0.119000	0.21687	0.695000	0.40330	0.022000	0.13511	0.909000	0.36697	0.467000	0.42956	TCA	NAV2	-	NULL		0.378	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20078079	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	0.203	T
NBEAL1	65065	genome.wustl.edu	37	2	203972541	203972541	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:203972541G>C	ENST00000449802.1	+	13	1825	c.1492G>C	c.(1492-1494)Gac>Cac	p.D498H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	498										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAAACCCTTGACTTGCATTC	0.418																																																	0													161.0	135.0	143.0					2																	203972541		692	1591	2283	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1492G>C	2.37:g.203972541G>C	ENSP00000399903:p.Asp498His		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D498H	ENST00000449802.1	37	c.1492	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853400	0.32791	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.72505	-0.66	5.84	2.79	0.32731	Armadillo-type fold (1);	.	.	.	.	T	0.47210	0.1433	N	0.08118	0	0.23966	N	0.996321	B	0.25609	0.13	B	0.34138	0.176	T	0.37033	-0.9723	9	0.26408	T	0.33	.	1.3987	0.02266	0.2586:0.1488:0.4405:0.1521	.	498	Q6ZS30	NBEL1_HUMAN	H	498	ENSP00000399903:D498H	ENSP00000344985:D498H	D	+	1	0	NBEAL1	203680786	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.452000	0.44961	0.713000	0.32060	0.555000	0.69702	GAC	NBEAL1	-	superfamily_ARM-type_fold		0.418	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			203972541	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.947	C
NBL1	4681	genome.wustl.edu	37	1	19981643	19981643	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:19981643C>T	ENST00000375136.3	+	2	423	c.120C>T	c.(118-120)atC>atT	p.I40I	MINOS1-NBL1_ENST00000602662.1_Silent_p.I40I|NBL1_ENST00000548815.1_Silent_p.I39I|NBL1_ENST00000289749.2_Silent_p.I75I	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	40	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGAACATCACCCAGATCG	0.632																																																	0													41.0	33.0	36.0					1																	19981643		2203	4300	6503	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.120C>T	1.37:g.19981643C>T			A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.I75	ENST00000375136.3	37	c.225	CCDS196.2	1																																																																																			NBL1	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C		0.632	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	C	NM_005380		19981643	+1	no_errors	ENST00000289749	ensembl	human	known	70_37	silent	SNP	1.000	T
NCAM2	4685	genome.wustl.edu	37	21	22906976	22906976	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:22906976G>C	ENST00000400546.1	+	17	2650	c.2401G>C	c.(2401-2403)Gaa>Caa	p.E801Q	NCAM2_ENST00000284894.7_Splice_Site_p.E659Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	801					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACAGAACCTGAGTATGTGGC	0.358																																																	0													99.0	95.0	96.0					21																	22906976		1926	4132	6058	SO:0001630	splice_region_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2402+1G>C	21.37:g.22906976G>C			A8MQ06|B7Z841|Q7Z7F2	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,prints_Neural_cell_adh	p.E801Q	ENST00000400546.1	37	c.2401	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885099	0.72410	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53857	0.6;0.6	5.49	5.49	0.81192	.	0.303457	0.35320	N	0.003296	T	0.51398	0.1672	L	0.53249	1.67	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.37144	0.242;0.242	T	0.57254	-0.7843	10	0.62326	D	0.03	-28.9126	17.9371	0.89015	0.0:0.0:1.0:0.0	.	659;801	B7Z5K2;O15394	.;NCAM2_HUMAN	Q	801;659	ENSP00000383392:E801Q;ENSP00000284894:E659Q	ENSP00000284894:E659Q	E	+	1	0	NCAM2	21828847	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.096000	0.94182	2.584000	0.87258	0.460000	0.39030	GAA	NCAM2	-	NULL		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540	Missense_Mutation	22906976	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	C
NCAPH	23397	genome.wustl.edu	37	2	97019969	97019969	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:97019969G>C	ENST00000240423.4	+	9	1094	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	NCAPH_ENST00000455200.1_Missense_Mutation_p.D340H|NCAPH_ENST00000427946.1_Missense_Mutation_p.D215H	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	351					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGTATTTGACATCAATGC	0.493																																																	0													175.0	173.0	174.0					2																	97019969		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1051G>C	2.37:g.97019969G>C	ENSP00000240423:p.Asp351His		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.D351H	ENST00000240423.4	37	c.1051	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051648	0.75960	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.80847	2.515	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;1.0;1.0	T	0.82655	-0.0350	10	0.66056	D	0.02	-26.7825	16.6203	0.84928	0.0:0.0:1.0:0.0	.	327;340;340;351	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	H	351;215;340;340	ENSP00000240423:D351H;ENSP00000400774:D215H;ENSP00000405237:D340H;ENSP00000407308:D340H	ENSP00000240423:D351H	D	+	1	0	NCAPH	96383696	1.000000	0.71417	0.547000	0.28179	0.815000	0.46073	5.641000	0.67881	2.534000	0.85438	0.561000	0.74099	GAC	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2		0.493	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	G	NM_015341		97019969	+1	no_errors	ENST00000240423	ensembl	human	known	70_37	missense	SNP	1.000	C
NCF1B	654816	genome.wustl.edu	37	7	72640045	72640045	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:72640045C>T	ENST00000423083.1	+	0	158					NR_003186.1		A6NI72	NCF1B_HUMAN	neutrophil cytosolic factor 1B pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175)										TTGACTTCTTCAAGGTGCGCC	0.612																																																	0																																												654816					7q11.23	2014-03-20	2006-09-19		ENSG00000182487	ENSG00000182487			32522	pseudogene	pseudogene			"""neutrophil cytosolic factor 1B"""				Standard	NR_003186		Approved	SH3PXD1B	uc011ker.1	A6NI72	OTTHUMG00000156804		7.37:g.72640045C>T				RNA	SNP	-	NULL	ENST00000423083.1	37	NULL		7																																																																																			NCF1B	-	-		0.612	NCF1B-003	KNOWN	basic	processed_transcript	NCF1B	HGNC	pseudogene	OTTHUMT00000345924.1	C	NR_003186		72640045	+1	no_errors	ENST00000432102	ensembl	human	known	70_37	rna	SNP	0.994	T
NCOA1	8648	genome.wustl.edu	37	2	24930054	24930054	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:24930054G>C	ENST00000406961.1	+	13	2367	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	NCOA1_ENST00000407230.1_Missense_Mutation_p.R421T|NCOA1_ENST00000395856.3_Missense_Mutation_p.R572T|NCOA1_ENST00000405141.1_Missense_Mutation_p.R572T|NCOA1_ENST00000348332.3_Missense_Mutation_p.R572T|NCOA1_ENST00000538539.1_Missense_Mutation_p.R572T|NCOA1_ENST00000288599.5_Missense_Mutation_p.R572T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	572	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCTAGCAGATTAAATATA	0.413			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													46.0	48.0	47.0					2																	24930054		2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1715G>C	2.37:g.24930054G>C	ENSP00000385216:p.Arg572Thr		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.R572T	ENST00000406961.1	37	c.1715	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157808	0.57368	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01963	4.64;4.64;4.53;4.64;4.64;4.64;4.64	5.43	5.43	0.79202	.	0.160179	0.53938	D	0.000053	T	0.08403	0.0209	L	0.53249	1.67	0.48135	D	0.999598	D;D;D;P	0.67145	0.99;0.985;0.996;0.915	P;P;P;B	0.61874	0.852;0.728;0.895;0.438	T	0.50127	-0.8864	10	0.15952	T	0.53	.	19.0206	0.92912	0.0:0.0:1.0:0.0	.	572;572;572;421	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	T	572;572;421;572;572;572;572	ENSP00000385216:R572T;ENSP00000385097:R572T;ENSP00000385195:R421T;ENSP00000444039:R572T;ENSP00000320940:R572T;ENSP00000288599:R572T;ENSP00000379197:R572T	ENSP00000288599:R572T	R	+	2	0	NCOA1	24783558	0.995000	0.38212	1.000000	0.80357	0.789000	0.44602	4.394000	0.59671	2.824000	0.97209	0.655000	0.94253	AGA	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.413	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24930054	+1	no_errors	ENST00000348332	ensembl	human	known	70_37	missense	SNP	0.997	C
NCOA7	135112	genome.wustl.edu	37	6	126249855	126249855	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:126249855G>A	ENST00000368357.3	+	17	3119	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N	NCOA7_ENST00000229634.9_Missense_Mutation_p.D808N|NCOA7_ENST00000392477.2_Missense_Mutation_p.D923N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	923	TLD.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTCAATAATGATATTCTTTC	0.353																																																	0													107.0	111.0	110.0					6																	126249855		2203	4300	6503	SO:0001583	missense	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2767G>A	6.37:g.126249855G>A	ENSP00000357341:p.Asp923Asn		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.D923N	ENST00000368357.3	37	c.2767	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885456	0.51908	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634	T;T;T	0.43688	0.94;0.94;0.94	6.17	6.17	0.99709	TLDc (2);	0.098280	0.64402	D	0.000001	T	0.49813	0.1579	L	0.43923	1.385	0.53005	D	0.999966	D;B;D;D	0.89917	0.997;0.096;1.0;1.0	D;B;D;D	0.91635	0.951;0.115;0.999;0.999	T	0.09185	-1.0686	10	0.20046	T	0.44	-23.3334	20.8794	0.99867	0.0:0.0:1.0:0.0	.	912;217;912;923	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.;.;.;NCOA7_HUMAN	N	923;923;808	ENSP00000357341:D923N;ENSP00000376269:D923N;ENSP00000229634:D808N	ENSP00000229634:D808N	D	+	1	0	NCOA7	126291548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.263000	0.58853	2.941000	0.99782	0.655000	0.94253	GAT	NCOA7	-	pfam_TLDc,smart_TLDc		0.353	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	G	XM_059748		126249855	+1	no_errors	ENST00000368357	ensembl	human	known	70_37	missense	SNP	1.000	A
NDRG3	57446	genome.wustl.edu	37	20	35288785	35288785	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:35288785G>A	ENST00000349004.1	-	13	894	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NDRG3_ENST00000373803.2_Silent_p.V271V|NDRG3_ENST00000373773.3_Silent_p.V176V|NDRG3_ENST00000540765.1_Silent_p.V167V|NDRG3_ENST00000359675.2_Silent_p.V259V	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	271					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V271V(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353																																																	1	Substitution - coding silent(1)	large_intestine(1)											82.0	82.0	82.0					20																	35288785		2203	4300	6503	SO:0001819	synonymous_variant	57446			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.813C>T	20.37:g.35288785G>A			A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	pfam_Ndr,pfam_AB_hydrolase_1	p.V271	ENST00000349004.1	37	c.813	CCDS13285.1	20																																																																																			NDRG3	-	pfam_Ndr		0.353	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDRG3	HGNC	protein_coding	OTTHUMT00000079053.2	G			35288785	-1	no_errors	ENST00000349004	ensembl	human	known	70_37	silent	SNP	1.000	A
NDST4	64579	genome.wustl.edu	37	4	115891599	115891599	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:115891599T>C	ENST00000264363.2	-	4	1886	c.1208A>G	c.(1207-1209)aAg>aGg	p.K403R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	403	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCAAATTCCTTGTTGAGAAT	0.413																																																	0													115.0	104.0	108.0					4																	115891599		2203	4300	6503	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1208A>G	4.37:g.115891599T>C	ENSP00000264363:p.Lys403Arg		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.K403R	ENST00000264363.2	37	c.1208	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732389	0.30684	.	.	ENSG00000138653	ENST00000264363	T	0.38401	1.14	5.49	4.27	0.50696	.	0.091594	0.64402	D	0.000001	T	0.26738	0.0654	N	0.26042	0.785	0.41835	D	0.990092	B	0.17038	0.02	B	0.25405	0.06	T	0.04737	-1.0930	10	0.29301	T	0.29	.	11.7503	0.51845	0.0:0.0701:0.0:0.9298	.	403	Q9H3R1	NDST4_HUMAN	R	403	ENSP00000264363:K403R	ENSP00000264363:K403R	K	-	2	0	NDST4	116111048	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.654000	0.37334	0.981000	0.38548	0.482000	0.46254	AAG	NDST4	-	pfam_Heparan_SO4_deacetylase		0.413	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	T	NM_022569		115891599	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	C
NDUFV1	4723	genome.wustl.edu	37	11	67374475	67374475	+	5'UTR	SNP	G	G	C	rs11540008		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:67374475G>C	ENST00000322776.6	+	0	153				RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000415352.2_5'UTR|NDUFV1_ENST00000529927.1_5'UTR|C11orf72_ENST00000446232.1_5'Flank|C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_5'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						GGCCCGCCGCGATGCTGGCAA	0.672											OREG0021132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	19.0	19.0					11																	67374475		2196	4289	6485	SO:0001623	5_prime_UTR_variant	4723			AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.-1G>C	11.37:g.67374475G>C		1099	O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	RNA	SNP	-	NULL	ENST00000322776.6	37	NULL	CCDS8173.1	11																																																																																			NDUFV1	-	-		0.672	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NDUFV1	HGNC	protein_coding	OTTHUMT00000388406.1	G	NM_007103		67374475	+1	no_errors	ENST00000524876	ensembl	human	known	70_37	rna	SNP	0.993	C
NEK1	4750	genome.wustl.edu	37	4	170398404	170398404	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:170398404G>C	ENST00000439128.2	-	24	2861	c.2221C>G	c.(2221-2223)Cat>Gat	p.H741D	NEK1_ENST00000507142.1_Missense_Mutation_p.H769D|NEK1_ENST00000510533.1_Missense_Mutation_p.H697D|NEK1_ENST00000512193.1_Missense_Mutation_p.H672D|NEK1_ENST00000511633.1_Missense_Mutation_p.H725D	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	741					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCATCTTCATGAACATTTATC	0.368																																																	0													79.0	69.0	72.0					4																	170398404		1857	4093	5950	SO:0001583	missense	4750			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2221C>G	4.37:g.170398404G>C	ENSP00000408020:p.His741Asp		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	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.H769D	ENST00000439128.2	37	c.2305	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.282806	0.00251	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.67523	-0.26;-0.25;-0.26;-0.27;-0.25	5.3	-1.3	0.09259	.	0.875750	0.10167	N	0.707639	T	0.41050	0.1142	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.0	T	0.22452	-1.0216	10	0.40728	T	0.16	.	0.2355	0.00185	0.2416:0.193:0.2097:0.3557	.	672;725;769;697;741	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	D	741;725;697;769;672	ENSP00000408020:H741D;ENSP00000423332:H725D;ENSP00000427653:H697D;ENSP00000424757:H769D;ENSP00000424938:H672D	ENSP00000408020:H741D	H	-	1	0	NEK1	170634979	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	0.019000	0.15079	-0.136000	0.14681	CAT	NEK1	-	NULL		0.368	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	G			170398404	-1	no_errors	ENST00000507142	ensembl	human	known	70_37	missense	SNP	0.000	C
NFASC	23114	genome.wustl.edu	37	1	204985893	204985893	+	3'UTR	SNP	C	C	T	rs576545816		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:204985893C>T	ENST00000401399.1	+	0	4148				NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000513543.1_3'UTR|NFASC_ENST00000339876.6_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGCTGGAGCCGTGGCTGAGC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		13529	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*226C>T	1.37:g.204985893C>T			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			NFASC	-	-		0.687	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	C	NM_001005388		204985893	+1	no_errors	ENST00000495396	ensembl	human	known	70_37	rna	SNP	0.007	T
NFATC1	4772	genome.wustl.edu	37	18	77170762	77170762	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:77170762G>A	ENST00000427363.2	+	2	487	c.487G>A	c.(487-489)Gag>Aag	p.E163K	NFATC1_ENST00000587635.1_Missense_Mutation_p.E163K|NFATC1_ENST00000318065.5_Missense_Mutation_p.E150K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E150K|NFATC1_ENST00000592223.1_Missense_Mutation_p.E150K|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.E163K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E163K|NFATC1_ENST00000329101.4_Missense_Mutation_p.E150K|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.E163K			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	163	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCCCAGCCTGGAGGCCTACAG	0.622																																					GBM(151;1210 2593 28719 45011)												0													36.0	37.0	37.0					18																	77170762		2203	4298	6501	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.487G>A	18.37:g.77170762G>A	ENSP00000389377:p.Glu163Lys		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E163K	ENST00000427363.2	37	c.487		18	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810708	0.90707	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.79033	-1.23;-1.23;-1.23	4.46	4.46	0.54185	.	0.058532	0.64402	D	0.000002	T	0.82033	0.4949	M	0.70275	2.135	0.80722	D	1	P;P;P;P;P;P;P	0.48911	0.917;0.917;0.917;0.917;0.917;0.917;0.917	P;P;P;P;P;P;P	0.49140	0.524;0.524;0.524;0.601;0.601;0.524;0.524	D	0.84491	0.0611	10	0.52906	T	0.07	-34.8409	17.2844	0.87137	0.0:0.0:1.0:0.0	.	150;150;163;163;163;150;163	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	K	163;163;163;150;150;127	ENSP00000253506:E163K;ENSP00000442435:E163K;ENSP00000327850:E150K	ENSP00000253506:E163K	E	+	1	0	NFATC1	75271750	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	8.901000	0.92560	2.293000	0.77203	0.561000	0.74099	GAG	NFATC1	-	NULL		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77170762	+1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	1.000	A
NHS	4810	genome.wustl.edu	37	X	17710460	17710460	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:17710460C>T	ENST00000380060.3	+	3	1062	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	NHS_ENST00000398097.3_Missense_Mutation_p.R65W	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	242	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTCAGAACACCGGAGCCGGAG	0.512																																																	0													68.0	66.0	67.0					X																	17710460		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.724C>T	X.37:g.17710460C>T	ENSP00000369400:p.Arg242Trp		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.R242W	ENST00000380060.3	37	c.724	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093548	0.76756	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48522	0.82;0.81	5.55	5.55	0.83447	.	0.065506	0.64402	D	0.000010	T	0.56834	0.2012	L	0.60455	1.87	0.47374	D	0.999408	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.56700	0.804;0.804;0.804;0.804	T	0.59695	-0.7406	10	0.66056	D	0.02	-12.6446	10.6025	0.45375	0.0:0.9102:0.0:0.0898	.	242;63;65;242	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	W	242;65;63	ENSP00000369400:R242W;ENSP00000381170:R65W	ENSP00000369397:R63W	R	+	1	2	NHS	17620381	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.709000	0.54853	2.562000	0.86427	0.600000	0.82982	CGG	NHS	-	NULL		0.512	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17710460	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.997	T
NLRP12	91662	genome.wustl.edu	37	19	54313719	54313719	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:54313719G>A	ENST00000324134.6	-	3	1362	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	NLRP12_ENST00000535162.1_Silent_p.F398F|NLRP12_ENST00000391773.1_Silent_p.F398F|NLRP12_ENST00000351894.4_Silent_p.F398F|NLRP12_ENST00000354278.3_Silent_p.F398F|NLRP12_ENST00000345770.5_Silent_p.F398F|NLRP12_ENST00000391775.3_Silent_p.F398F|NLRP12_ENST00000391772.1_Silent_p.F398F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACATGGTGAAGAGAGGCT	0.562																																																	0													178.0	171.0	173.0					19																	54313719		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1194C>T	19.37:g.54313719G>A			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F398	ENST00000324134.6	37	c.1194	CCDS12864.1	19																																																																																			NLRP12	-	pfscan_NACHT_NTPase		0.562	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54313719	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	1.000	A
NLRP5	126206	genome.wustl.edu	37	19	56539277	56539277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56539277G>T	ENST00000390649.3	+	7	1678	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	560	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGGGAGTCTGAGCTCCGTGC	0.547																																																	0													57.0	61.0	60.0					19																	56539277		2116	4238	6354	SO:0001587	stop_gained	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1678G>T	19.37:g.56539277G>T	ENSP00000375063:p.Glu560*		A8MTY4|Q86W29	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E560*	ENST00000390649.3	37	c.1678	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172223	0.78452	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.97	1.93	0.25924	.	0.000000	0.37437	N	0.002098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.9285	0.19126	0.1451:0.0:0.8549:0.0	.	.	.	.	X	560	.	ENSP00000375063:E560X	E	+	1	0	NLRP5	61231089	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.088000	0.11198	0.822000	0.34565	0.555000	0.69702	GAG	NLRP5	-	NULL		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	G	NM_153447		56539277	+1	no_errors	ENST00000390649	ensembl	human	known	70_37	nonsense	SNP	0.002	T
NOA1	84273	genome.wustl.edu	37	4	57829794	57829794	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57829794C>G	ENST00000264230.4	-	7	3156	c.1919G>C	c.(1918-1920)aGa>aCa	p.R640T	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	640					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GAGATGCAGTCTGTCCTTAAA	0.423																																																	0													74.0	77.0	76.0					4																	57829794		2203	4300	6503	SO:0001583	missense	84273			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1919G>C	4.37:g.57829794C>G	ENSP00000264230:p.Arg640Thr		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.R640T	ENST00000264230.4	37	c.1919	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231785	0.22626	.	.	ENSG00000084092	ENST00000264230	T	0.31510	1.49	5.41	-2.36	0.06663	.	0.484715	0.22562	N	0.058445	T	0.13030	0.0316	N	0.17474	0.49	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29852	-0.9998	10	0.13853	T	0.58	.	7.343	0.26648	0.0:0.1786:0.5283:0.2931	.	640	Q8NC60	CD014_HUMAN	T	640	ENSP00000264230:R640T	ENSP00000264230:R640T	R	-	2	0	C4orf14	57524551	0.944000	0.32072	0.853000	0.33588	0.858000	0.48976	0.107000	0.15375	-0.165000	0.10908	0.655000	0.94253	AGA	NOA1	-	NULL		0.423	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	C	NM_032313		57829794	-1	no_errors	ENST00000264230	ensembl	human	known	70_37	missense	SNP	0.355	G
NOTO	344022	genome.wustl.edu	37	2	73430134	73430134	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:73430134C>T	ENST00000398468.3	+	1	749	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_001134462.1	NP_001127934.1	A8MTQ0	NOTO_HUMAN	notochord homeobox	114					cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|notochord development (GO:0030903)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)	2						GCCAGGGCCGCGCGTGGCTCC	0.726																																																	0													2.0	3.0	3.0					2																	73430134		575	1392	1967	SO:0001583	missense	344022				CCDS46335.1	2p13.2	2011-06-20	2007-02-15		ENSG00000214513	ENSG00000214513		"""Homeoboxes / ANTP class : NKL subclass"""	31839	protein-coding gene	gene with protein product			"""notochord homolog (Xenopus laevis)"""			15231714	Standard	NM_001134462		Approved		uc010yrd.2	A8MTQ0	OTTHUMG00000164128	ENST00000398468.3:c.340C>T	2.37:g.73430134C>T	ENSP00000381486:p.Arg114Cys		B4DJ59|B7ZAU5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R114C	ENST00000398468.3	37	c.340	CCDS46335.1	2	.	.	.	.	.	.	.	.	.	.	C	7.274	0.607659	0.14002	.	.	ENSG00000214513	ENST00000398468	D	0.93019	-3.15	2.67	0.713	0.18173	.	.	.	.	.	T	0.80592	0.4652	N	0.03608	-0.345	0.09310	N	1	B	0.16166	0.016	B	0.04013	0.001	T	0.70008	-0.4990	9	0.51188	T	0.08	-2.1904	3.1436	0.06464	0.2731:0.5741:0.0:0.1528	.	114	A8MTQ0	NOTO_HUMAN	C	114	ENSP00000381486:R114C	ENSP00000381486:R114C	R	+	1	0	NOTO	73283642	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.191000	0.17076	0.167000	0.19631	-0.424000	0.05967	CGC	NOTO	-	NULL		0.726	NOTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTO	HGNC	protein_coding	OTTHUMT00000377385.2	C	XM_292889		73430134	+1	no_errors	ENST00000398468	ensembl	human	known	70_37	missense	SNP	0.000	T
NOXO1	124056	genome.wustl.edu	37	16	2029514	2029514	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2029514C>T	ENST00000397280.4	-	7	748	c.745G>A	c.(745-747)Gag>Aag	p.E249K	NOXO1_ENST00000566005.1_Missense_Mutation_p.E248K|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000354249.4_Missense_Mutation_p.E243K|NOXO1_ENST00000356120.4_Missense_Mutation_p.E244K|AC005606.1_ENST00000598236.1_5'Flank			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	249	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGGCTGCTCTCGTAGGCGCGG	0.697																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													20.0	24.0	22.0					16																	2029514		2164	4239	6403	SO:0001583	missense	124056			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.745G>A	16.37:g.2029514C>T	ENSP00000380450:p.Glu249Lys		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.E249K	ENST00000397280.4	37	c.745	CCDS42101.1	16	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870316	0.51588	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.49432	0.78;0.78;0.78	5.1	-2.74	0.05932	Src homology-3 domain (4);	0.468197	0.25022	N	0.033756	T	0.25865	0.0630	L	0.41824	1.3	0.25017	N	0.991362	B;P;P;B	0.35307	0.348;0.494;0.494;0.364	B;B;B;B	0.29440	0.083;0.083;0.083;0.102	T	0.33343	-0.9872	10	0.13108	T	0.6	-10.3672	7.1419	0.25560	0.0:0.521:0.111:0.3681	.	248;243;244;249	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	K	243;244;249	ENSP00000346195:E243K;ENSP00000348435:E244K;ENSP00000380450:E249K	ENSP00000346195:E243K	E	-	1	0	NOXO1	1969515	0.011000	0.17503	0.011000	0.14972	0.836000	0.47400	0.386000	0.20702	-0.126000	0.11682	0.561000	0.74099	GAG	NOXO1	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.697	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	C			2029514	-1	no_errors	ENST00000397280	ensembl	human	known	70_37	missense	SNP	0.407	T
NPAP1	23742	genome.wustl.edu	37	15	24923152	24923152	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:24923152C>T	ENST00000329468.2	+	1	2612	c.2138C>T	c.(2137-2139)tCt>tTt	p.S713F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	713					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATCTTGCAGTCTGCCTCTGTC	0.517																																																	0													154.0	146.0	149.0					15																	24923152		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2138C>T	15.37:g.24923152C>T	ENSP00000333735:p.Ser713Phe			Missense_Mutation	SNP	NULL	p.S713F	ENST00000329468.2	37	c.2138	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	7.172	0.587886	0.13812	.	.	ENSG00000185823	ENST00000329468	T	0.11277	2.79	2.77	-2.93	0.05598	.	3.894270	0.00567	N	0.000285	T	0.08447	0.0210	L	0.38175	1.15	0.09310	N	1	B	0.27594	0.182	B	0.13407	0.009	T	0.29792	-1.0000	10	0.66056	D	0.02	.	3.3792	0.07248	0.1847:0.3923:0.0:0.423	.	713	Q9NZP6	CO002_HUMAN	F	713	ENSP00000333735:S713F	ENSP00000333735:S713F	S	+	2	0	C15orf2	22474245	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.111000	0.10807	-0.674000	0.05253	-0.465000	0.05216	TCT	NPAP1	-	NULL		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923152	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	T
NPR3	4883	genome.wustl.edu	37	5	32710861	32710861	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:32710861C>T	ENST00000265074.8	+	0	0				NPR3_ENST00000415167.2_5'Flank|NPR3_ENST00000434067.2_Silent_p.F31F|NPR3_ENST00000415685.2_Silent_p.F31F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTCGGTGCTTCAGGAGGGAAT	0.587																																																	0																																										SO:0001631	upstream_gene_variant	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316		5.37:g.32710861C>T	Exception_encountered		A2RRD1|B4DT84|E7EPG9	Silent	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.F31	ENST00000265074.8	37	c.93	CCDS56357.1	5																																																																																			NPR3	-	NULL		0.587	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	C	NM_000908		32710861	+1	no_errors	ENST00000415685	ensembl	human	known	70_37	silent	SNP	0.005	T
NPTN	27020	genome.wustl.edu	37	15	73925521	73925521	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:73925521G>C	ENST00000345330.4	-	1	233	c.36C>G	c.(34-36)ctC>ctG	p.L12L	NPTN_ENST00000563691.1_Silent_p.L12L|NPTN_ENST00000545878.1_Silent_p.L12L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000562924.1_Silent_p.L12L|NPTN_ENST00000542234.1_Silent_p.L12L|NPTN_ENST00000287226.8_Silent_p.L12L|NPTN_ENST00000351217.6_Silent_p.L12L	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	12					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GCAACAGCGAGAGGGCCAGGG	0.746																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												0													26.0	28.0	27.0					15																	73925521		2158	4246	6404	SO:0001819	synonymous_variant	27020			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.36C>G	15.37:g.73925521G>C			B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L12	ENST00000345330.4	37	c.36	CCDS10249.1	15																																																																																			NPTN	-	NULL		0.746	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	G	NM_012428		73925521	-1	no_errors	ENST00000345330	ensembl	human	known	70_37	silent	SNP	1.000	C
NPY1R	4886	genome.wustl.edu	37	4	164246841	164246841	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:164246841C>T	ENST00000296533.2	-	3	1300	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NPY1R_ENST00000509586.1_Missense_Mutation_p.E14K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	257					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTTGGTTTCACTGGACCTG	0.373																																																	0													82.0	78.0	80.0					4																	164246841		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.769G>A	4.37:g.164246841C>T	ENSP00000354652:p.Glu257Lys		B2R6H5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E257K	ENST00000296533.2	37	c.769	CCDS34089.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002064	0.74932	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391;ENST00000512819	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	1.866750	0.03428	N	0.207348	T	0.79149	0.4397	L	0.35487	1.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.65755	-0.6091	10	0.18710	T	0.47	.	20.1512	0.98086	0.0:1.0:0.0:0.0	.	257	P25929	NPY1R_HUMAN	K	257;14;14;79	ENSP00000354652:E257K;ENSP00000427284:E14K;ENSP00000422963:E14K;ENSP00000421618:E79K	ENSP00000354652:E257K	E	-	1	0	NPY1R	164466291	0.994000	0.37717	1.000000	0.80357	0.979000	0.70002	3.102000	0.50291	2.771000	0.95319	0.655000	0.94253	GAA	NPY1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt		0.373	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	C			164246841	-1	no_errors	ENST00000296533	ensembl	human	known	70_37	missense	SNP	0.998	T
NR2C1	7181	genome.wustl.edu	37	12	95422188	95422188	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:95422188C>T	ENST00000333003.5	-	12	1836	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	502					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTATTGCCTTCAGGTAGGCAT	0.348																																																	0													116.0	103.0	108.0					12																	95422188		2203	4300	6503	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1506G>A	12.37:g.95422188C>T			A8K5K4|Q15625|Q15626	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L502	ENST00000333003.5	37	c.1506	CCDS9051.1	12																																																																																			NR2C1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.348	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2	C	NM_003297		95422188	-1	no_errors	ENST00000333003	ensembl	human	known	70_37	silent	SNP	1.000	T
NRG3	10718	genome.wustl.edu	37	10	84738789	84738789	+	Missense_Mutation	SNP	G	G	A	rs560019942		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:84738789G>A	ENST00000404547.1	+	8	1496	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	NRG3_ENST00000372142.2_Missense_Mutation_p.R278Q|NRG3_ENST00000537893.1_Missense_Mutation_p.R149Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R499Q|NRG3_ENST00000404576.2_Missense_Mutation_p.R303Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R329Q|NRG3_ENST00000545131.1_Missense_Mutation_p.R149Q			P56975	NRG3_HUMAN	neuregulin 3	499					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCGTCACCCCGAAGTAGGCTA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17950	0.0		0.0	False		,,,				2504	0.001																0													98.0	86.0	90.0					10																	84738789		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1496G>A	10.37:g.84738789G>A	ENSP00000384796:p.Arg499Gln		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.R499Q	ENST00000404547.1	37	c.1496	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841292	0.91197	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62498	0.51;0.97;0.96;0.02;0.02;0.02;0.02	5.79	5.79	0.91817	.	0.275525	0.25494	N	0.030290	T	0.78007	0.4216	L	0.61218	1.895	0.48341	D	0.999637	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.99;0.996;0.996;0.99	T	0.78811	-0.2057	10	0.87932	D	0	-40.3534	17.6117	0.88055	0.0:0.0:1.0:0.0	.	498;499;278;499	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	Q	499;499;498;278;303;329;149;149	ENSP00000361214:R499Q;ENSP00000384796:R499Q;ENSP00000361215:R278Q;ENSP00000385804:R303Q;ENSP00000451376:R329Q;ENSP00000441201:R149Q;ENSP00000440377:R149Q	ENSP00000361214:R499Q	R	+	2	0	NRG3	84728769	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	6.664000	0.74437	2.759000	0.94783	0.558000	0.71614	CGA	NRG3	-	NULL		0.527	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		84738789	+1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	0.988	A
NRXN2	9379	genome.wustl.edu	37	11	64428387	64428387	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64428387C>T	ENST00000377551.1	-	9	2234	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	NRXN2_ENST00000265459.6_Missense_Mutation_p.E675K|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.E644K|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.E668K			Q9P2S2	NRX2A_HUMAN	neurexin 2	675	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCTGAGCCTCAGCCAGGCCC	0.672																																																	0													40.0	40.0	40.0					11																	64428387		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2023G>A	11.37:g.64428387C>T	ENSP00000366774:p.Glu675Lys		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E675K	ENST00000377551.1	37	c.2023	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938583	0.73557	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43110	U	0.000601	D	0.82444	0.5038	L	0.46885	1.475	0.58432	D	0.999998	D;P;P	0.63046	0.992;0.765;0.881	D;B;P	0.63488	0.915;0.325;0.471	T	0.81931	-0.0707	10	0.40728	T	0.16	.	14.8054	0.69952	0.0:1.0:0.0:0.0	.	644;675;421	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	675;644;675;644;668	ENSP00000366774:E675K;ENSP00000366782:E644K;ENSP00000265459:E675K;ENSP00000386416:E668K	ENSP00000265459:E675K	E	-	1	0	NRXN2	64184963	1.000000	0.71417	0.904000	0.35570	0.740000	0.42216	5.752000	0.68728	2.355000	0.79922	0.555000	0.69702	GAG	NRXN2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.672	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	C	NM_015080		64428387	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	missense	SNP	0.998	T
NSF	4905	genome.wustl.edu	37	17	44770331	44770331	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:44770331G>A	ENST00000398238.4	+	10	1115	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	NSF_ENST00000575068.1_Silent_p.Q331Q|NSF_ENST00000225282.8_Silent_p.Q242Q	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	336					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TCTGCAAGCAGAGAGGGAGCA	0.428																																					Ovarian(25;472 742 1472 36813 50223)												0													28.0	26.0	27.0					17																	44770331		1845	4077	5922	SO:0001819	synonymous_variant	4905				CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1008G>A	17.37:g.44770331G>A			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.Q336	ENST00000398238.4	37	c.1008	CCDS42354.1	17																																																																																			NSF	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.428	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSF	HGNC	protein_coding	OTTHUMT00000259348.2	G	NM_006178		44770331	+1	no_errors	ENST00000398238	ensembl	human	known	70_37	silent	SNP	1.000	A
NTS	4922	genome.wustl.edu	37	12	86276129	86276129	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:86276129C>G	ENST00000256010.6	+	4	596	c.489C>G	c.(487-489)ctC>ctG	p.L163L	NTS_ENST00000551529.1_Silent_p.L88L	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	163					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						CCTACATACTCAAAAGAGATT	0.294																																																	0													92.0	106.0	101.0					12																	86276129		2202	4295	6497	SO:0001819	synonymous_variant	4922				CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.489C>G	12.37:g.86276129C>G				Silent	SNP	pfam_NeurotensiN,prints_NeurotensiN	p.L163	ENST00000256010.6	37	c.489	CCDS9029.1	12																																																																																			NTS	-	pfam_NeurotensiN,prints_NeurotensiN		0.294	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTS	HGNC	protein_coding	OTTHUMT00000406111.2	C			86276129	+1	no_errors	ENST00000256010	ensembl	human	known	70_37	silent	SNP	1.000	G
NUDT10	170685	genome.wustl.edu	37	X	51075857	51075857	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:51075857G>A	ENST00000376006.3	+	2	260	c.40G>A	c.(40-42)Gag>Aag	p.E14K	NUDT10_ENST00000356450.2_Missense_Mutation_p.E14K	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					CTACGACCCCGAGGGGTTCAA	0.667																																					NSCLC(90;1817 2035 37909 38249)												0													42.0	32.0	35.0					X																	51075857		2203	4300	6503	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.40G>A	X.37:g.51075857G>A	ENSP00000365174:p.Glu14Lys		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E14K	ENST00000376006.3	37	c.40	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699486	0.88830	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.32515	1.45;1.45	2.61	2.61	0.31194	NUDIX hydrolase domain-like (1);	0.056324	0.64402	D	0.000001	T	0.28699	0.0711	L	0.59436	1.845	0.36113	D	0.844964	D	0.57257	0.979	B	0.42462	0.388	T	0.50634	-0.8805	9	0.44086	T	0.13	-28.8812	10.5502	0.45083	0.0:0.0:1.0:0.0	.	14	Q8NFP7	NUD10_HUMAN	K	14	ENSP00000365174:E14K;ENSP00000348831:E14K	ENSP00000348831:E14K	E	+	1	0	NUDT10	51092597	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	8.274000	0.89889	1.602000	0.50124	0.429000	0.28392	GAG	NUDT10	-	superfamily_NUDIX_hydrolase_dom-like		0.667	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	G	NM_153183		51075857	+1	no_errors	ENST00000356450	ensembl	human	known	70_37	missense	SNP	1.000	A
NUP62	23636	genome.wustl.edu	37	19	50412866	50412866	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:50412866G>C	ENST00000596217.1	-	2	2086	c.199C>G	c.(199-201)Ccg>Gcg	p.P67A	NUP62_ENST00000597029.1_Missense_Mutation_p.P67A|NUP62_ENST00000597723.1_Missense_Mutation_p.P67A|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.P67A|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.P67A|NUP62_ENST00000413454.1_Missense_Mutation_p.P67A|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	67	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTGTGGCCGGAGTCTGGGTG	0.547																																																	0													151.0	154.0	153.0					19																	50412866		2203	4300	6503	SO:0001583	missense	23636			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.199C>G	19.37:g.50412866G>C	ENSP00000471191:p.Pro67Ala		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.P67A	ENST00000596217.1	37	c.199	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	6.975	0.549837	0.13374	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37584	1.19;1.19;1.19	4.26	3.2	0.36748	Nucleoporin, NSP1-like, C-terminal (1);	0.403038	0.21678	U	0.070777	T	0.22437	0.0541	N	0.24115	0.695	0.21355	N	0.999717	B;B	0.21520	0.053;0.057	B;B	0.17722	0.019;0.008	T	0.12993	-1.0526	10	0.37606	T	0.19	-4.6212	8.5664	0.33543	0.1053:0.0:0.8947:0.0	.	67;67	Q8WYU3;P37198	.;NUP62_HUMAN	A	67	ENSP00000305503:P67A;ENSP00000407331:P67A;ENSP00000387991:P67A	ENSP00000321866:P67A	P	-	1	0	NUP62	55104678	0.001000	0.12720	0.017000	0.16124	0.021000	0.10359	0.457000	0.21875	1.355000	0.45865	0.655000	0.94253	CCG	NUP62	-	NULL		0.547	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	G	NM_153719		50412866	-1	no_errors	ENST00000352066	ensembl	human	known	70_37	missense	SNP	0.045	C
NUP85	79902	genome.wustl.edu	37	17	73208116	73208116	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:73208116C>T	ENST00000245544.4	+	4	391	c.320C>T	c.(319-321)tCa>tTa	p.S107L	NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.S107L|NUP85_ENST00000541827.1_Missense_Mutation_p.S61L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	107					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AACTACCGATCAGTCATCAGA	0.458																																																	0													133.0	108.0	117.0					17																	73208116		2203	4300	6503	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.320C>T	17.37:g.73208116C>T	ENSP00000245544:p.Ser107Leu		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.S107L	ENST00000245544.4	37	c.320	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659549	0.88154	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.84326	2.69	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.57720	0.792;0.826	T	0.77064	-0.2726	9	0.38643	T	0.18	-8.5403	14.3518	0.66708	0.0:0.8517:0.1483:0.0	.	61;107	B4DMQ3;Q9BW27	.;NUP85_HUMAN	L	107;61;61	.	ENSP00000245544:S107L	S	+	2	0	NUP85	70719711	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	6.071000	0.71229	2.513000	0.84729	0.591000	0.81541	TCA	NUP85	-	pfam_Nucleoporin_Nup85		0.458	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	C	NM_024844		73208116	+1	no_errors	ENST00000245544	ensembl	human	known	70_37	missense	SNP	0.992	T
OIP5	11339	genome.wustl.edu	37	15	41625063	41625063	+	5'Flank	SNP	C	C	G	rs141522981		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:41625063C>G	ENST00000220514.3	-	0	0				NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000450318.1_5'UTR|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000260359.6_5'UTR|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5						cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAATTTCTGCCTAGTCAAAGT	0.468																																																	0																																										SO:0001631	upstream_gene_variant	51203			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251		15.37:g.41625063C>G	Exception_encountered		Q96BX7	RNA	SNP	-	NULL	ENST00000220514.3	37	NULL	CCDS10074.1	15																																																																																			NUSAP1	-	-		0.468	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000252576.2	C	NM_007280		41625063	+1	no_errors	ENST00000558123	ensembl	human	known	70_37	rna	SNP	0.000	G
NWD1	284434	genome.wustl.edu	37	19	16890254	16890254	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:16890254C>T	ENST00000552788.1	+	10	2709	c.2709C>T	c.(2707-2709)atC>atT	p.I903I	NWD1_ENST00000339803.6_Silent_p.I768I|NWD1_ENST00000523826.1_Silent_p.I697I|NWD1_ENST00000379808.3_Silent_p.I903I|NWD1_ENST00000524140.2_Silent_p.I903I|NWD1_ENST00000549814.1_Silent_p.I903I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	903							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCATGTGATCCACATGCTAA	0.547											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													194.0	154.0	168.0					19																	16890254		2203	4300	6503	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2709C>T	19.37:g.16890254C>T		713	C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I903	ENST00000552788.1	37	c.2709		19																																																																																			NWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	C	NM_001007525		16890254	+1	no_errors	ENST00000379808	ensembl	human	known	70_37	silent	SNP	0.055	T
NXF5	55998	genome.wustl.edu	37	X	101096477	101096477	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:101096477C>T	ENST00000361708.2	-	6	653	c.294G>A	c.(292-294)ttG>ttA	p.L98L	NXF5_ENST00000537026.1_Silent_p.L98L|NXF5_ENST00000473265.2_Silent_p.L98L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	98					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GGCCTGGCTTCAACTTATTCT	0.478																																																	0													137.0	115.0	123.0					X																	101096477		2203	4300	6503	SO:0001819	synonymous_variant	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.294G>A	X.37:g.101096477C>T			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	pfam_Tap_RNA-bd	p.L98	ENST00000361708.2	37	c.294		X																																																																																			NXF5	-	NULL		0.478	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		C			101096477	-1	no_errors	ENST00000263032	ensembl	human	known	70_37	silent	SNP	0.948	T
NXF4	55999	genome.wustl.edu	37	X	101818872	101818872	+	RNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:101818872C>G	ENST00000360035.2	+	0	1156					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						TAGCTGAAGTCGGCTTGGGAG	0.557																																																	0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101818872C>G				RNA	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			NXF4	-	-		0.557	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	C			101818872	+1	no_errors	ENST00000360035	ensembl	human	known	70_37	rna	SNP	0.031	G
NXPH2	11249	genome.wustl.edu	37	2	139428861	139428861	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:139428861G>A	ENST00000272641.3	-	2	532	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	142	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AATACACACTGAAGGTTCCAT	0.433																																																	0													51.0	46.0	48.0					2																	139428861		1888	4122	6010	SO:0001819	synonymous_variant	11249			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.426C>T	2.37:g.139428861G>A			B7WP24|Q494R1|Q75QC3	Silent	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.F142	ENST00000272641.3	37	c.426	CCDS46421.1	2																																																																																			NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin		0.433	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	G			139428861	-1	no_errors	ENST00000272641	ensembl	human	known	70_37	silent	SNP	1.000	A
OAS1	4938	genome.wustl.edu	37	12	113355471	113355471	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113355471G>C	ENST00000202917.5	+	5	1267	c.1004G>C	c.(1003-1005)tGg>tCg	p.W335S	OAS1_ENST00000551241.1_Missense_Mutation_p.W335S|OAS1_ENST00000452357.2_Missense_Mutation_p.W335S|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.W335S	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	335					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TTTAAGAATTGGGATGGGTCC	0.562																																																	0													135.0	142.0	140.0					12																	113355471		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1004G>C	12.37:g.113355471G>C	ENSP00000202917:p.Trp335Ser		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.W335S	ENST00000202917.5	37	c.1004	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607623	0.03717	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000553152	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.05	-2.43	0.06522	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	3.720810	0.00531	N	0.000213	T	0.28928	0.0718	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.25772	0.134;0.061;0.059;0.022	B;B;B;B	0.23275	0.045;0.038;0.039;0.022	T	0.03240	-1.1057	10	0.10902	T	0.67	3.7158	0.7308	0.00956	0.1869:0.2737:0.2611:0.2783	.	335;335;335;335	F8VXY3;P00973;P00973-3;P00973-2	.;OAS1_HUMAN;.;.	S	335;335;335;335;335;81	ENSP00000202917:W335S;ENSP00000388001:W335S;ENSP00000415721:W335S;ENSP00000448790:W335S;ENSP00000449053:W81S	ENSP00000202917:W335S	W	+	2	0	OAS1	111839854	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.513000	0.06305	-0.274000	0.09232	0.655000	0.94253	TGG	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.562	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113355471	+1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.006	C
OBP2B	29989	genome.wustl.edu	37	9	136081736	136081736	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:136081736G>C	ENST00000372034.3	-	5	497	c.456C>G	c.(454-456)ctC>ctG	p.L152L	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	152					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCTCCTCCGAGAGTCCCTTGC	0.587																																																	0													150.0	140.0	143.0					9																	136081736		2203	4300	6503	SO:0001819	synonymous_variant	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.456C>G	9.37:g.136081736G>C			Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	p.L152	ENST00000372034.3	37	c.456	CCDS6961.1	9																																																																																			OBP2B	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth		0.587	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	G	NM_014581		136081736	-1	no_errors	ENST00000372034	ensembl	human	known	70_37	silent	SNP	0.013	C
OBSCN	84033	genome.wustl.edu	37	1	228402796	228402796	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:228402796C>A	ENST00000422127.1	+	5	1869	c.1825C>A	c.(1825-1827)Ctg>Atg	p.L609M	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000284548.11_Missense_Mutation_p.L609M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.L609M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	609	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACTGTCCACCTGGGTAAGTG	0.632																																																	0													30.0	35.0	33.0					1																	228402796		2002	4175	6177	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1825C>A	1.37:g.228402796C>A	ENSP00000409493:p.Leu609Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L609M	ENST00000422127.1	37	c.1825	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670967	0.47781	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.36699	1.24;1.24	5.55	3.67	0.42095	Fibronectin, type III (1);	0.000000	0.64402	D	0.000008	T	0.56441	0.1985	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.53387	-0.8446	10	0.33940	T	0.23	.	11.3391	0.49523	0.0:0.8509:0.0:0.1491	.	609;609	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	609	ENSP00000284548:L609M;ENSP00000409493:L609M	ENSP00000284548:L609M	L	+	1	2	OBSCN	226469419	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	3.812000	0.55628	0.702000	0.31825	0.655000	0.94253	CTG	OBSCN	-	superfamily_Fibronectin_type3		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228402796	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228559841	228559841	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:228559841C>T	ENST00000422127.1	+	94	21406	c.21362C>T	c.(21361-21363)tCc>tTc	p.S7121F	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4755F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S8078F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7121					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGTCAGCCTCCCAGGCGAGC	0.662																																																	0													9.0	10.0	10.0					1																	228559841		1836	4069	5905	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21362C>T	1.37:g.228559841C>T	ENSP00000409493:p.Ser7121Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S7121F	ENST00000422127.1	37	c.21362	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022015	0.35701	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.64085	-0.08;0.01	1.54	-2.33	0.06724	.	.	.	.	.	T	0.39462	0.1079	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.41790	T	0.15	.	2.2917	0.04140	0.0:0.2362:0.3069:0.4569	.	7121	Q5VST9	OBSCN_HUMAN	F	7121;4755	ENSP00000409493:S7121F;ENSP00000355668:S4755F	ENSP00000355668:S4755F	S	+	2	0	OBSCN	226626464	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.253000	0.08794	-1.065000	0.03168	-0.834000	0.03071	TCC	OBSCN	-	NULL		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559841	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T
OBSL1	23363	genome.wustl.edu	37	2	220419452	220419452	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220419452C>T	ENST00000404537.1	-	15	4676	c.4620G>A	c.(4618-4620)ctG>ctA	p.L1540L	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.L1448L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1540					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGCACCCTCAGCTGCCTCG	0.667																																																	0													9.0	11.0	11.0					2																	220419452		2087	4208	6295	SO:0001819	synonymous_variant	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4620G>A	2.37:g.220419452C>T			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1540	ENST00000404537.1	37	c.4620	CCDS46520.1	2																																																																																			OBSL1	-	NULL		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220419452	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	silent	SNP	0.041	T
OCM2	4951	genome.wustl.edu	37	7	97617814	97617814	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97617814G>C	ENST00000257627.4	-	2	199	c.108C>G	c.(106-108)ctC>ctG	p.L36L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	36							calcium ion binding (GO:0005509)			lung(4)	4						ACATCTTGGAGAGGCCTGACG	0.453																																																	0													169.0	159.0	163.0					7																	97617814		2203	4300	6503	SO:0001819	synonymous_variant	4951			BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.108C>G	7.37:g.97617814G>C			P32930|Q6ISI5|Q75MW0	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	p.L36	ENST00000257627.4	37	c.108	CCDS5653.1	7																																																																																			OCM2	-	prints_Parvalbumin		0.453	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM2	HGNC	protein_coding	OTTHUMT00000334188.1	G	NM_006188		97617814	-1	no_errors	ENST00000257627	ensembl	human	known	70_37	silent	SNP	0.999	C
OGG1	4968	genome.wustl.edu	37	3	9791867	9791867	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:9791867G>A	ENST00000344629.7	+	0	240				OGG1_ENST00000302008.8_5'UTR|OGG1_ENST00000302003.7_5'UTR|OGG1_ENST00000339511.5_5'UTR|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000349503.5_5'UTR|OGG1_ENST00000302036.7_5'UTR|OGG1_ENST00000383826.5_5'UTR|OGG1_ENST00000449570.2_5'UTR			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCGTGTGGGCGAGGCCTTAAG	0.622								Base excision repair (BER), DNA glycosylases																																									0																																										SO:0001623	5_prime_UTR_variant	4968			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.-104G>A	3.37:g.9791867G>A			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	RNA	SNP	-	NULL	ENST00000344629.7	37	NULL	CCDS2581.1	3																																																																																			OGG1	-	-		0.622	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	G	NM_016821		9791867	+1	no_errors	ENST00000436092	ensembl	human	putative	70_37	rna	SNP	0.000	A
OPRM1	4988	genome.wustl.edu	37	6	154412697	154412697	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:154412697G>C	ENST00000330432.7	+	3	1401				OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000428397.2_3'UTR|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000524163.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCATTATAGAGGATGAGAA	0.353																																																	0																																										SO:0001627	intron_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+90G>C	6.37:g.154412697G>C			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	RNA	SNP	-	NULL	ENST00000330432.7	37	NULL	CCDS55070.1	6																																																																																			OPRM1	-	-		0.353	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154412697	+1	no_errors	ENST00000522382	ensembl	human	known	70_37	rna	SNP	0.000	C
OR10G2	26534	genome.wustl.edu	37	14	22102290	22102290	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:22102290C>T	ENST00000542433.1	-	1	806	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	237						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(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGCCTCCCATCAGCGGTGCGT	0.542																																																	0													37.0	39.0	39.0					14																	22102290		2186	4253	6439	SO:0001583	missense	26534				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.709G>A	14.37:g.22102290C>T	ENSP00000445383:p.Asp237Asn		B2RPD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D237N	ENST00000542433.1	37	c.709	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081269	0.20309	.	.	ENSG00000255582	ENST00000542433	T	0.00115	8.71	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.645425	0.13545	N	0.379926	T	0.00144	0.0004	N	0.26042	0.785	0.24797	N	0.992727	B	0.18610	0.029	B	0.24269	0.052	T	0.44544	-0.9321	10	0.72032	D	0.01	-1.6495	13.4661	0.61254	0.0:1.0:0.0:0.0	.	237	Q8NGC3	O10G2_HUMAN	N	237	ENSP00000445383:D237N	ENSP00000445383:D237N	D	-	1	0	OR10G2	21172130	0.001000	0.12720	0.996000	0.52242	0.290000	0.27261	0.325000	0.19628	2.027000	0.59764	0.557000	0.71058	GAT	OR10G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	C			22102290	-1	no_errors	ENST00000542433	ensembl	human	known	70_37	missense	SNP	0.772	T
OR1I1	126370	genome.wustl.edu	37	19	15198871	15198871	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:15198871G>C	ENST00000209540.2	+	1	1081	c.995G>C	c.(994-996)aGg>aCg	p.R332T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ttggctgctagggacacagag	0.512																																																	0													70.0	49.0	56.0					19																	15198871		2203	4300	6503	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.995G>C	19.37:g.15198871G>C	ENSP00000209540:p.Arg332Thr		Q96R92	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R332T	ENST00000209540.2	37	c.995	CCDS32937.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921915	0.33908	.	.	ENSG00000094661	ENST00000209540	T	0.00626	6.13	2.8	-1.66	0.08265	.	.	.	.	.	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.46386	-0.9195	9	0.87932	D	0	.	7.0325	0.24975	0.6003:0.0:0.3997:0.0	.	332	O60431	OR1I1_HUMAN	T	332	ENSP00000209540:R332T	ENSP00000209540:R332T	R	+	2	0	OR1I1	15059871	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.384000	0.07389	-0.225000	0.09913	0.305000	0.20034	AGG	OR1I1	-	NULL		0.512	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	HGNC	protein_coding	OTTHUMT00000465665.1	G			15198871	+1	no_errors	ENST00000209540	ensembl	human	known	70_37	missense	SNP	0.000	C
OR1S1	219959	genome.wustl.edu	37	11	57982586	57982586	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57982586G>A	ENST00000309433.6	+	1	370	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTCGTCATTGACAATTTGCT	0.448																																																	0													183.0	172.0	175.0					11																	57982586		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.370G>A	11.37:g.57982586G>A	ENSP00000311688:p.Asp124Asn		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D124N	ENST00000309433.6	37	c.370	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	G	7.296	0.611963	0.14066	.	.	ENSG00000172774	ENST00000309433	T	0.00627	6.12	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.128601	0.34580	N	0.003848	T	0.01156	0.0038	M	0.62016	1.91	0.09310	N	1	B	0.21520	0.057	B	0.23852	0.049	T	0.36407	-0.9749	10	0.87932	D	0	.	14.1	0.65049	0.0:0.0:1.0:0.0	.	124	Q8NH92	OR1S1_HUMAN	N	124	ENSP00000311688:D124N	ENSP00000311688:D124N	D	+	1	0	OR1S1	57739162	0.160000	0.22878	0.874000	0.34290	0.149000	0.21700	2.066000	0.41452	1.770000	0.52166	0.479000	0.44913	GAC	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	G	NM_001004458		57982586	+1	no_errors	ENST00000309433	ensembl	human	known	70_37	missense	SNP	0.004	A
OR1S1	219959	genome.wustl.edu	37	11	57983057	57983057	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57983057G>C	ENST00000309433.6	+	1	841	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CACTCACCCTGAGGACACTGA	0.478																																																	0													134.0	120.0	125.0					11																	57983057		2201	4295	6496	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.841G>C	11.37:g.57983057G>C	ENSP00000311688:p.Glu281Gln		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E281Q	ENST00000309433.6	37	c.841	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188178	0.21954	.	.	ENSG00000172774	ENST00000309433	T	0.00099	8.73	3.23	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.584260	0.15309	N	0.269171	T	0.00073	0.0002	N	0.02266	-0.62	0.09310	N	1	P	0.41546	0.754	B	0.42959	0.403	T	0.22941	-1.0202	10	0.72032	D	0.01	.	4.2686	0.10775	0.1375:0.2402:0.6222:0.0	.	281	Q8NH92	OR1S1_HUMAN	Q	281	ENSP00000311688:E281Q	ENSP00000311688:E281Q	E	+	1	0	OR1S1	57739633	0.000000	0.05858	0.014000	0.15608	0.782000	0.44232	0.697000	0.25556	0.561000	0.29186	0.479000	0.44913	GAG	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.478	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	G	NM_001004458		57983057	+1	no_errors	ENST00000309433	ensembl	human	known	70_37	missense	SNP	0.000	C
OR2AK2	391191	genome.wustl.edu	37	1	248128661	248128661	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:248128661G>C	ENST00000366480.3	+	1	127	c.28G>C	c.(28-30)Gat>Cat	p.D10H	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			catctCCTTTGATATTTTGGT	0.328																																					Melanoma(45;390 1181 23848 28461 41504)												0													95.0	89.0	91.0					1																	248128661		2203	4300	6503	SO:0001583	missense	391191			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.28G>C	1.37:g.248128661G>C	ENSP00000355436:p.Asp10His		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D10H	ENST00000366480.3	37	c.28	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306263	0.23736	.	.	ENSG00000187080	ENST00000366480	T	0.06294	3.32	2.48	-4.96	0.03038	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43278	-0.9401	9	0.45353	T	0.12	.	2.2667	0.04080	0.1247:0.1277:0.1939:0.5537	.	10	Q8NG84	O2AK2_HUMAN	H	10	ENSP00000355436:D10H	ENSP00000355436:D10H	D	+	1	0	OR2AK2	246195284	0.030000	0.19436	0.002000	0.10522	0.113000	0.19764	-0.436000	0.06922	-0.848000	0.04163	0.407000	0.27541	GAT	OR2AK2	-	NULL		0.328	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	G	NM_001004491		248128661	+1	no_errors	ENST00000366480	ensembl	human	known	70_37	missense	SNP	0.000	C
OR2T33	391195	genome.wustl.edu	37	1	248437015	248437015	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:248437015C>G	ENST00000318021.2	-	1	123	c.102G>C	c.(100-102)ttG>ttC	p.L34F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGGGAGGTCAAAACGATAC	0.493																																																	0													38.0	40.0	39.0					1																	248437015		2197	4296	6493	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.102G>C	1.37:g.248437015C>G	ENSP00000324687:p.Leu34Phe		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34F	ENST00000318021.2	37	c.102	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	4.198	0.035478	0.08148	.	.	ENSG00000177212	ENST00000318021	T	0.17213	2.29	2.7	-5.39	0.02664	.	1.429120	0.05131	U	0.492658	T	0.11580	0.0282	L	0.47016	1.485	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31998	-0.9923	10	0.24483	T	0.36	.	1.3917	0.02252	0.3472:0.2553:0.2747:0.1228	.	34	Q8NG76	O2T33_HUMAN	F	34	ENSP00000324687:L34F	ENSP00000324687:L34F	L	-	3	2	OR2T33	246503638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.770000	0.01791	-1.235000	0.02545	-0.599000	0.04106	TTG	OR2T33	-	prints_GPCR_Rhodpsn		0.493	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	C	NM_001004695		248437015	-1	no_errors	ENST00000318021	ensembl	human	known	70_37	missense	SNP	0.000	G
OR4C3	256144	genome.wustl.edu	37	11	48346555	48346555	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:48346555C>G	ENST00000319856.4	+	1	84	c.63C>G	c.(61-63)ttC>ttG	p.F21L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTGCATTCTCAGTGACCT	0.388																																																	0													124.0	126.0	125.0					11																	48346555		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.63C>G	11.37:g.48346555C>G	ENSP00000321419:p.Phe21Leu		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F21L	ENST00000319856.4	37	c.63	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	c	11.74	1.730020	0.30684	.	.	ENSG00000176547	ENST00000319856	T	0.06849	3.25	5.23	-1.75	0.08031	.	1.377790	0.05168	N	0.499122	T	0.02767	0.0083	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40459	-0.9562	7	0.07813	T	0.8	.	2.0468	0.03562	0.1257:0.4421:0.1229:0.3093	.	.	.	.	L	21	ENSP00000321419:F21L	ENSP00000321419:F21L	F	+	3	2	OR4C3	48303131	0.004000	0.15560	0.000000	0.03702	0.113000	0.19764	0.878000	0.28126	-0.141000	0.11374	-1.033000	0.02402	TTC	OR4C3	-	NULL		0.388	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48346555	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.000	G
OR4A16	81327	genome.wustl.edu	37	11	55111510	55111510	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:55111510C>T	ENST00000314721.2	+	1	884	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTATCACACTCATGTTGAATC	0.313																																																	0													86.0	81.0	83.0					11																	55111510		2201	4296	6497	SO:0001819	synonymous_variant	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.834C>T	11.37:g.55111510C>T			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L278	ENST00000314721.2	37	c.834	CCDS31499.1	11																																																																																			OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	C	NM_001005274		55111510	+1	no_errors	ENST00000314721	ensembl	human	known	70_37	silent	SNP	0.992	T
OR4F13P	390651	genome.wustl.edu	37	15	102389537	102389537	+	RNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:102389537C>G	ENST00000560066.1	+	0	1064					NR_046417.1				olfactory receptor, family 4, subfamily F, member 13 pseudogene																		AAACACTCCTCAGGAGGCTCA	0.428																																																	0																																												390651			AB065564, AY792621		15q26.3	2012-08-09			ENSG00000214344	ENSG00000214344		"""GPCR / Class A : Olfactory receptors"""	15076	pseudogene	pseudogene							Standard	NR_046417		Approved		uc021szj.1		OTTHUMG00000154399		15.37:g.102389537C>G				RNA	SNP	-	NULL	ENST00000560066.1	37	NULL		15																																																																																			OR4F13P	-	-		0.428	OR4F13P-002	KNOWN	basic	processed_transcript	OR4F13P	HGNC	pseudogene	OTTHUMT00000417595.1	C	NR_046417		102389537	+1	no_errors	ENST00000560066	ensembl	human	known	70_37	rna	SNP	0.001	G
OR4K13	390433	genome.wustl.edu	37	14	20502384	20502384	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20502384G>T	ENST00000315693.2	-	1	535	c.534C>A	c.(532-534)ttC>ttA	p.F178L	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAAGGTCACAGAAAAAGCTGT	0.473																																																	0													134.0	126.0	128.0					14																	20502384		2203	4300	6503	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.534C>A	14.37:g.20502384G>T	ENSP00000319322:p.Phe178Leu		Q6IF13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F178L	ENST00000315693.2	37	c.534	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485798	0.44147	.	.	ENSG00000176253	ENST00000315693	T	0.00220	8.52	3.61	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	U	0.000977	T	0.00328	0.0010	M	0.74258	2.255	0.30306	N	0.788984	P	0.50943	0.94	P	0.55011	0.766	T	0.38564	-0.9655	10	0.87932	D	0	.	6.3743	0.21499	0.3309:0.0:0.6691:0.0	.	178	Q8NH42	OR4KD_HUMAN	L	178	ENSP00000319322:F178L	ENSP00000319322:F178L	F	-	3	2	OR4K13	19572224	0.992000	0.36948	0.993000	0.49108	0.279000	0.26890	0.102000	0.15272	0.229000	0.21039	0.514000	0.50259	TTC	OR4K13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	G			20502384	-1	no_errors	ENST00000315693	ensembl	human	known	70_37	missense	SNP	1.000	T
OR8H3	390152	genome.wustl.edu	37	11	55890695	55890695	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:55890695C>G	ENST00000313472.3	+	1	847	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TATTGTGATTCCCATGCTGAA	0.363																																																	0													102.0	105.0	104.0					11																	55890695		2201	4296	6497	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.847C>G	11.37:g.55890695C>G	ENSP00000323928:p.Pro283Ala		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P283A	ENST00000313472.3	37	c.847	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101995	0.56183	.	.	ENSG00000181761	ENST00000313472	T	0.00340	8.04	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.00815	0.0027	M	0.90369	3.11	0.40407	D	0.979715	P	0.51057	0.941	P	0.54924	0.764	T	0.65327	-0.6195	10	0.87932	D	0	.	15.6872	0.77421	0.0:1.0:0.0:0.0	.	283	Q8N146	OR8H3_HUMAN	A	283	ENSP00000323928:P283A	ENSP00000323928:P283A	P	+	1	0	OR8H3	55647271	0.997000	0.39634	0.993000	0.49108	0.697000	0.40408	4.070000	0.57548	1.734000	0.51633	0.173000	0.16961	CCC	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.363	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	C	NM_001005201		55890695	+1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	0.992	G
OR5M1	390168	genome.wustl.edu	37	11	56380559	56380559	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:56380559G>C	ENST00000526538.1	-	1	419	c.420C>G	c.(418-420)atC>atG	p.I140M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I140I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GACAGACACAGATGTTCTTGG	0.448																																																	1	Substitution - coding silent(1)	lung(1)											138.0	120.0	126.0					11																	56380559		1979	4175	6154	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.420C>G	11.37:g.56380559G>C	ENSP00000435416:p.Ile140Met		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I140M	ENST00000526538.1	37	c.420	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	3.407	-0.120963	0.06838	.	.	ENSG00000255012	ENST00000526538	T	0.00174	8.62	3.71	-7.41	0.01392	GPCR, rhodopsin-like superfamily (1);	1.203820	0.06409	N	0.720185	T	0.00109	0.0003	N	0.11106	0.095	0.09310	N	1	B	0.18166	0.026	B	0.29176	0.099	T	0.27673	-1.0067	10	0.66056	D	0.02	-24.1449	7.9344	0.29920	0.2373:0.3199:0.4428:0.0	.	140	Q8NGP8	OR5M1_HUMAN	M	140	ENSP00000435416:I140M	ENSP00000435416:I140M	I	-	3	3	OR5M1	56137135	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-4.528000	0.00220	-0.974000	0.03550	0.280000	0.19369	ATC	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380559	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	missense	SNP	0.000	C
OR9Q1	219956	genome.wustl.edu	37	11	57947066	57947066	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:57947066C>T	ENST00000335397.3	+	3	466	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTCTGATCCTCATGGATCACC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											260.0	239.0	246.0					11																	57947066		2201	4296	6497	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.150C>T	11.37:g.57947066C>T			Q2TAN3|Q96RA7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000335397.3	37	c.150	CCDS31543.1	11																																																																																			OR9Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	HGNC	protein_coding	OTTHUMT00000394538.2	C	NM_001005212		57947066	+1	no_errors	ENST00000335397	ensembl	human	known	70_37	silent	SNP	0.000	T
OSBPL9	114883	genome.wustl.edu	37	1	52179728	52179728	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:52179728C>G	ENST00000428468.1	+	4	297	c.295C>G	c.(295-297)Ctt>Gtt	p.L99V	OSBPL9_ENST00000371714.1_Missense_Mutation_p.L99V|OSBPL9_ENST00000453295.1_Missense_Mutation_p.L82V|OSBPL9_ENST00000530544.1_Missense_Mutation_p.L31V|OSBPL9_ENST00000337809.4_Missense_Mutation_p.L117V|OSBPL9_ENST00000371710.3_Missense_Mutation_p.L117V|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000447887.1_Missense_Mutation_p.L99V			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L99I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AGAAACAATTCTTCGACATAC	0.328																																																	1	Substitution - Missense(1)	ovary(1)											88.0	84.0	85.0					1																	52179728		1849	4096	5945	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.295C>G	1.37:g.52179728C>G	ENSP00000407168:p.Leu99Val		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L117V	ENST00000428468.1	37	c.349	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860068	0.71834	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544	T;T;T;T;T	0.15139	2.46;2.67;2.69;2.54;2.45	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.78801	2.425	0.80722	D	1	B;D;P;B	0.89917	0.411;1.0;0.878;0.211	B;D;B;B	0.85130	0.101;0.997;0.396;0.111	T	0.12967	-1.0527	10	0.49607	T	0.09	-16.659	12.465	0.55753	0.0:0.9222:0.0:0.0778	.	82;105;99;117	Q86YQ3;B1AKJ7;Q96SU4;B1AKJ6	.;.;OSBL9_HUMAN;.	V	99;117;117;99;99;82;31	ENSP00000360779:L99V;ENSP00000360775:L117V;ENSP00000337265:L117V;ENSP00000412733:L99V;ENSP00000407168:L99V	ENSP00000337265:L117V	L	+	1	0	OSBPL9	51952316	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.962000	0.56766	2.890000	0.99128	0.650000	0.86243	CTT	OSBPL9	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.328	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	C			52179728	+1	no_errors	ENST00000371710	ensembl	human	known	70_37	missense	SNP	1.000	G
OTOF	9381	genome.wustl.edu	37	2	26702252	26702252	+	Splice_Site	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:26702252C>A	ENST00000272371.2	-	18	2220	c.2094G>T	c.(2092-2094)agG>agT	p.R698S	OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Splice_Site_p.R698S|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	698					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGTAGTTCCTGGGGTGGG	0.657																																					GBM(102;732 1451 20652 24062 31372)												0													27.0	29.0	29.0					2																	26702252		2202	4294	6496	SO:0001630	splice_region_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2094-1G>T	2.37:g.26702252C>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R698S	ENST00000272371.2	37	c.2094	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486980	0.63962	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80214	-1.35;-1.35	4.4	2.4	0.29515	.	0.088452	0.85682	D	0.000000	T	0.76456	0.3990	M	0.68952	2.095	0.48185	D	0.999603	P	0.48764	0.915	P	0.45071	0.468	T	0.69614	-0.5098	10	0.19147	T	0.46	.	8.2618	0.31790	0.0:0.7797:0.0:0.2203	.	698	Q9HC10	OTOF_HUMAN	S	698	ENSP00000272371:R698S;ENSP00000385255:R698S	ENSP00000272371:R698S	R	-	3	2	OTOF	26555756	0.996000	0.38824	0.984000	0.44739	0.980000	0.70556	0.493000	0.22451	0.233000	0.21120	0.555000	0.69702	AGG	OTOF	-	NULL		0.657	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	C		Missense_Mutation	26702252	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	missense	SNP	1.000	A
OSGEPL1	64172	genome.wustl.edu	37	2	190618675	190618675	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:190618675C>G	ENST00000264151.5	-	5	1032	c.930G>C	c.(928-930)caG>caC	p.Q310H	OSGEPL1_ENST00000519810.1_Missense_Mutation_p.Q310H|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.Q310H|Y_RNA_ENST00000411317.1_RNA	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACAAGTCTCTCTGCTTACAAA	0.373																																																	0													61.0	60.0	60.0					2																	190618675		1890	4106	5996	SO:0001583	missense	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.930G>C	2.37:g.190618675C>G	ENSP00000264151:p.Gln310His			Missense_Mutation	SNP	pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD	p.Q310H	ENST00000264151.5	37	c.930	CCDS46472.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962201	0.34659	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350	T;T;T;D	0.99042	2.24;2.24;2.24;-5.36	5.38	2.44	0.29823	Peptidase M22, glycoprotease (1);	0.501813	0.23295	N	0.049750	D	0.96278	0.8786	L	0.46947	1.48	0.36064	D	0.841642	P	0.42161	0.772	B	0.34722	0.188	D	0.95196	0.8312	10	0.46703	T	0.11	-6.0566	7.3258	0.26555	0.0:0.5965:0.0:0.4035	.	310	Q9H4B0	OSGP2_HUMAN	H	310;310;310;163	ENSP00000264151:Q310H;ENSP00000428859:Q310H;ENSP00000429697:Q310H;ENSP00000430062:Q163H	ENSP00000264151:Q310H	Q	-	3	2	OSGEPL1	190326920	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	1.272000	0.33109	0.842000	0.35045	0.650000	0.86243	CAG	OSGEPL1	-	pfam_Gcp-like_dom,tigrfam_KAE1/YgjD		0.373	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEPL1	HGNC	protein_coding	OTTHUMT00000377257.1	C	NM_022353		190618675	-1	no_errors	ENST00000264151	ensembl	human	known	70_37	missense	SNP	0.999	G
OTOGL	283310	genome.wustl.edu	37	12	80647248	80647248	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:80647248C>T	ENST00000547103.1	+	13	1267	c.1261C>T	c.(1261-1263)Ctc>Ttc	p.L421F	OTOGL_ENST00000458043.2_Missense_Mutation_p.L421F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	421	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCAATTAGGCCTCGTAATGGA	0.333																																																	0													138.0	127.0	130.0					12																	80647248		1821	4070	5891	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1261C>T	12.37:g.80647248C>T	ENSP00000447211:p.Leu421Phe		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L421F	ENST00000547103.1	37	c.1261		12	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525556	0.64860	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90261	-2.64;-2.64	5.71	5.71	0.89125	.	.	.	.	.	D	0.89770	0.6811	L	0.37507	1.11	0.51482	D	0.999927	.	.	.	.	.	.	D	0.89011	0.3428	7	0.46703	T	0.11	.	13.1107	0.59270	0.0:0.9269:0.0:0.0731	.	.	.	.	F	421	ENSP00000447211:L421F;ENSP00000400895:L421F	ENSP00000400895:L421F	L	+	1	0	OTOGL	79171379	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	4.144000	0.58057	2.699000	0.92147	0.650000	0.86243	CTC	OTOGL	-	pfam_TIL_dom,superfamily_TIL_dom		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80647248	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	T
OTOP1	133060	genome.wustl.edu	37	4	4190672	4190672	+	Missense_Mutation	SNP	C	C	G	rs554408396		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:4190672C>G	ENST00000296358.4	-	6	1721	c.1697G>C	c.(1696-1698)cGa>cCa	p.R566P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	566					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATACTCAGGTCGACAGCCAAA	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											58.0	61.0	60.0					4																	4190672		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1697G>C	4.37:g.4190672C>G	ENSP00000296358:p.Arg566Pro		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R566P	ENST00000296358.4	37	c.1697	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757936	0.69648	.	.	ENSG00000163982	ENST00000296358	T	0.22539	1.95	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55095	-0.8194	10	0.87932	D	0	0.0829	15.7183	0.77688	0.0:1.0:0.0:0.0	.	566	Q7RTM1	OTOP1_HUMAN	P	566	ENSP00000296358:R566P	ENSP00000296358:R566P	R	-	2	0	OTOP1	4241573	1.000000	0.71417	0.968000	0.41197	0.763000	0.43281	5.386000	0.66238	1.998000	0.58463	0.536000	0.68110	CGA	OTOP1	-	pfam_Otopetrin		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	C	NM_177998		4190672	-1	no_errors	ENST00000296358	ensembl	human	known	70_37	missense	SNP	1.000	G
OTUD7B	56957	genome.wustl.edu	37	1	149921607	149921607	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:149921607G>A	ENST00000369135.4	-	9	1342	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	350	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L350V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCGAGCACCAGAGGGGAGCGG	0.512																																																	1	Substitution - Missense(1)	lung(1)											71.0	73.0	72.0					1																	149921607		1980	4171	6151	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1048C>T	1.37:g.149921607G>A			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L350	ENST00000369135.4	37	c.1048	CCDS41389.1	1																																																																																			OTUD7B	-	pfam_OTU,pfscan_OTU		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	G	NM_020205		149921607	-1	no_errors	ENST00000369135	ensembl	human	known	70_37	silent	SNP	1.000	A
OXSR1	9943	genome.wustl.edu	37	3	38240323	38240323	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38240323G>A	ENST00000446845.1	+	4	775	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	OXSR1_ENST00000311806.3_Missense_Mutation_p.E135K					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGAAGGGCTGGAATATCTGCA	0.403																																																	0													162.0	149.0	154.0					3																	38240323		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.403G>A	3.37:g.38240323G>A	ENSP00000415851:p.Glu135Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E135K	ENST00000446845.1	37	c.403		3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947357	0.92593	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.65549	-0.16;-0.16	4.58	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049009	0.85682	D	0.000000	T	0.61261	0.2333	N	0.12569	0.235	0.80722	D	1	P;P	0.48911	0.917;0.861	P;P	0.58013	0.831;0.614	T	0.69573	-0.5109	10	0.72032	D	0.01	-19.2803	16.7656	0.85523	0.0:0.0:1.0:0.0	.	135;135	C9JIG9;O95747	.;OXSR1_HUMAN	K	135	ENSP00000415851:E135K;ENSP00000311713:E135K	ENSP00000311713:E135K	E	+	1	0	OXSR1	38215327	1.000000	0.71417	0.988000	0.46212	0.731000	0.41821	9.072000	0.93986	2.251000	0.74343	0.563000	0.77884	GAA	OXSR1	-	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		0.403	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	G	NM_005109		38240323	+1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	A
PADI1	29943	genome.wustl.edu	37	1	17567243	17567243	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:17567243C>T	ENST00000375471.4	+	15	1838	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Silent_p.F53F|PADI1_ENST00000537499.1_Silent_p.F139F|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	582					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CGGAAGCCTTCTTCCCAGACA	0.607																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													91.0	91.0	91.0					1																	17567243		2203	4300	6503	SO:0001819	synonymous_variant	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1746C>T	1.37:g.17567243C>T			A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.F582	ENST00000375471.4	37	c.1746	CCDS178.1	1																																																																																			PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.607	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	C	NM_013358		17567243	+1	no_errors	ENST00000375471	ensembl	human	known	70_37	silent	SNP	1.000	T
PAFAH1B1	5048	genome.wustl.edu	37	17	2585020	2585020	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2585020C>T	ENST00000397195.5	+	11	1610				PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000572915.2_Intron|RP11-74E22.5_ENST00000610120.1_RNA|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTTTTTCTTTCAGATTTCCAC	0.413																																																	0													105.0	90.0	95.0					17																	2585020		2203	4300	6503	SO:0001627	intron_variant	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1160-3C>T	17.37:g.2585020C>T				RNA	SNP	-	NULL	ENST00000397195.5	37	NULL	CCDS32528.1	17																																																																																			PAFAH1B1	-	-		0.413	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	C	NM_000430		2585020	+1	no_errors	ENST00000574213	ensembl	human	putative	70_37	rna	SNP	1.000	T
PAGE2B	389860	genome.wustl.edu	37	X	55102509	55102509	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:55102509C>T	ENST00000374971.1	+	2	87	c.35C>T	c.(34-36)tCa>tTa	p.S12L	PAGE2B_ENST00000374974.3_Missense_Mutation_p.S12L	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	12										lung(3)	3						TCCCAATCCTCAGAAAGAGGA	0.338																																																	0													117.0	97.0	104.0					X																	55102509		2203	4300	6503	SO:0001583	missense	389860				CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.35C>T	X.37:g.55102509C>T	ENSP00000364110:p.Ser12Leu		A1L414	Missense_Mutation	SNP	pfam_GAGE	p.S12L	ENST00000374971.1	37	c.35	CCDS35304.1	X	.	.	.	.	.	.	.	.	.	.	c	7.629	0.678515	0.14841	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.09817	2.94;2.94	1.29	-2.58	0.06228	.	.	.	.	.	T	0.09949	0.0244	M	0.63428	1.95	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.33214	-0.9877	9	0.44086	T	0.13	.	3.3251	0.07064	0.4774:0.2838:0.2388:0.0	.	12	Q5JRK9	GGEE3_HUMAN	L	12	ENSP00000364113:S12L;ENSP00000364110:S12L	ENSP00000364110:S12L	S	+	2	0	PAGE2B	55119234	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.773000	0.01786	-1.144000	0.02862	0.287000	0.19450	TCA	PAGE2B	-	pfam_GAGE		0.338	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE2B	HGNC	protein_coding	OTTHUMT00000056849.1	C	XM_372224		55102509	+1	no_errors	ENST00000374971	ensembl	human	known	70_37	missense	SNP	0.000	T
PAICS	10606	genome.wustl.edu	37	4	57312951	57312951	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57312951G>A	ENST00000512576.1	+	3	466	c.305G>A	c.(304-306)aGa>aAa	p.R102K	PAICS_ENST00000399688.3_Missense_Mutation_p.R109K|PAICS_ENST00000514888.1_Missense_Mutation_p.R10K|PAICS_ENST00000264221.2_Missense_Mutation_p.R102K	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	102	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	GTTTGCAGAAGAATAGCAACT	0.378																																					GBM(53;429 1144 8755 40726)												0													47.0	45.0	46.0					4																	57312951		1843	4089	5932	SO:0001583	missense	10606			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.305G>A	4.37:g.57312951G>A	ENSP00000421096:p.Arg102Lys		E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.R102K	ENST00000512576.1	37	c.305	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469418	0.84533	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.43	5.43	0.79202	ATP-grasp fold, subdomain 2 (1);SAICAR synthetase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.65498	2.005	0.80722	D	1	B;B;B	0.24675	0.109;0.089;0.109	B;B;B	0.37451	0.25;0.162;0.25	T	0.54125	-0.8340	10	0.62326	D	0.03	-18.2181	19.6103	0.95602	0.0:0.0:1.0:0.0	.	102;109;102	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	K	10;102;102;109;102	ENSP00000424907:R10K;ENSP00000264221:R102K;ENSP00000424053:R102K;ENSP00000382595:R109K;ENSP00000421096:R102K	ENSP00000264221:R102K	R	+	2	0	PAICS	57007708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.718000	0.92993	0.585000	0.79938	AGA	PAICS	-	pfam_SAICAR_synth		0.378	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	G	NM_006452		57312951	+1	no_errors	ENST00000264221	ensembl	human	known	70_37	missense	SNP	1.000	A
PALB2	79728	genome.wustl.edu	37	16	23619253	23619253	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:23619253C>G	ENST00000261584.4	-	12	3434	c.3282G>C	c.(3280-3282)gtG>gtC	p.V1094V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1094	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAGGGTTAATCACAATGAGCT	0.498			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													134.0	102.0	113.0					16																	23619253		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3282G>C	16.37:g.23619253C>G			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.V1094	ENST00000261584.4	37	c.3282	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom		0.498	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23619253	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	silent	SNP	0.088	G
PANK3	79646	genome.wustl.edu	37	5	167990942	167990942	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:167990942C>T	ENST00000239231.6	-	4	1080	c.764G>A	c.(763-765)gGa>gAa	p.G255E	PANK3_ENST00000520504.1_Intron|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	255					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ATAATCTCCTCCATAAATATC	0.383																																																	0													127.0	134.0	132.0					5																	167990942		2203	4300	6503	SO:0001583	missense	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.764G>A	5.37:g.167990942C>T	ENSP00000239231:p.Gly255Glu		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.G255E	ENST00000239231.6	37	c.764	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937117	0.92458	.	.	ENSG00000120137	ENST00000239231	D	0.99745	-6.61	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.87932	D	0	-13.4297	17.4478	0.87583	0.0:1.0:0.0:0.0	.	255	Q9H999	PANK3_HUMAN	E	255	ENSP00000239231:G255E	ENSP00000239231:G255E	G	-	2	0	PANK3	167923520	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.669000	0.83911	2.432000	0.82394	0.591000	0.81541	GGA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	C	NM_024594		167990942	-1	no_errors	ENST00000239231	ensembl	human	known	70_37	missense	SNP	1.000	T
PAPSS2	9060	genome.wustl.edu	37	10	89419750	89419750	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:89419750C>G	ENST00000361175.4	+	1	381	c.12C>G	c.(10-12)atC>atG	p.I4M	PAPSS2_ENST00000427144.2_5'Flank|RP11-57C13.3_ENST00000354527.2_RNA|PAPSS2_ENST00000456849.1_Missense_Mutation_p.I4M|RP11-57C13.6_ENST00000438082.1_lincRNA	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCGGGGATCAAGAAGCAAA	0.721																																																	0													16.0	21.0	19.0					10																	89419750		2194	4286	6480	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.12C>G	10.37:g.89419750C>G	ENSP00000354436:p.Ile4Met		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.I4M	ENST00000361175.4	37	c.12	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028894	0.54790	.	.	ENSG00000198682	ENST00000361175;ENST00000456849	T;T	0.27256	1.68;1.68	4.43	2.54	0.30619	.	.	.	.	.	T	0.15435	0.0372	L	0.29908	0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08269	-1.0730	9	0.25751	T	0.34	16.5473	5.8805	0.18852	0.0:0.6989:0.1951:0.106	.	4;4	O95340;O95340-2	PAPS2_HUMAN;.	M	4	ENSP00000354436:I4M;ENSP00000406157:I4M	ENSP00000354436:I4M	I	+	3	3	PAPSS2	89409730	1.000000	0.71417	0.915000	0.36163	0.908000	0.53690	1.140000	0.31516	0.471000	0.27319	0.462000	0.41574	ATC	PAPSS2	-	NULL		0.721	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	C			89419750	+1	no_errors	ENST00000456849	ensembl	human	known	70_37	missense	SNP	0.965	G
PARD3	56288	genome.wustl.edu	37	10	34649003	34649003	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:34649003G>C	ENST00000374789.3	-	13	2217	c.1892C>G	c.(1891-1893)tCt>tGt	p.S631C	PARD3_ENST00000374773.1_Missense_Mutation_p.S631C|PARD3_ENST00000374794.3_Missense_Mutation_p.S574C|PARD3_ENST00000544292.1_Missense_Mutation_p.S348C|PARD3_ENST00000340077.5_Missense_Mutation_p.S631C|PARD3_ENST00000346874.4_Missense_Mutation_p.S631C|PARD3_ENST00000374776.1_Missense_Mutation_p.S618C|PARD3_ENST00000374788.3_Missense_Mutation_p.S631C|PARD3_ENST00000545260.1_Missense_Mutation_p.S574C|PARD3_ENST00000374790.3_Missense_Mutation_p.S574C|PARD3_ENST00000545693.1_Missense_Mutation_p.S618C|PARD3_ENST00000374768.1_Missense_Mutation_p.S69C|PARD3_ENST00000350537.4_Missense_Mutation_p.S618C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	631	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACTCACTTTAGATGCTGCTCC	0.378																																																	0													123.0	114.0	117.0					10																	34649003		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1892C>G	10.37:g.34649003G>C	ENSP00000363921:p.Ser631Cys		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S631C	ENST00000374789.3	37	c.1892	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990573	0.74589	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.95	5.95	0.96441	PDZ/DHR/GLGF (4);	0.093191	0.85682	D	0.000000	T	0.57829	0.2080	M	0.72894	2.215	0.53688	D	0.999973	P;D;D;P;D;P;P;P;P;P;P;B;P;B;B	0.89917	0.803;1.0;1.0;0.803;1.0;0.803;0.803;0.707;0.764;0.836;0.716;0.167;0.831;0.167;0.214	P;D;D;P;D;P;P;B;P;P;P;B;P;B;B	0.97110	0.504;0.999;1.0;0.504;1.0;0.504;0.504;0.314;0.527;0.637;0.485;0.124;0.459;0.187;0.175	T	0.49969	-0.8882	10	0.38643	T	0.18	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	574;574;618;618;618;631;631;631;574;618;631;631;618;631;348	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	618;574;631;631;631;574;618;574;618;631;631;348;69	ENSP00000443147:S618C;ENSP00000440857:S574C;ENSP00000363921:S631C;ENSP00000363920:S631C;ENSP00000340591:S631C;ENSP00000363926:S574C;ENSP00000311986:S618C;ENSP00000363922:S574C;ENSP00000363908:S618C;ENSP00000341844:S631C;ENSP00000363905:S631C;ENSP00000444429:S348C;ENSP00000363900:S69C	ENSP00000341844:S631C	S	-	2	0	PARD3	34689009	1.000000	0.71417	0.988000	0.46212	0.947000	0.59692	5.980000	0.70516	2.817000	0.96982	0.563000	0.77884	TCT	PARD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34649003	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	0.999	C
PAPSS2	9060	genome.wustl.edu	37	10	89473852	89473852	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:89473852G>C	ENST00000361175.4	+	4	802	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E149Q|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E145Q	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	145					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GCCATTCTTTGAAATATTTGT	0.393																																																	0													89.0	98.0	95.0					10																	89473852		2203	4300	6503	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.433G>C	10.37:g.89473852G>C	ENSP00000354436:p.Glu145Gln		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.E145Q	ENST00000361175.4	37	c.433	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.269755	0.95429	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.80214	-1.35;-1.35;-1.35	5.9	5.9	0.94986	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94883	0.8346	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96485	0.9359	10	0.87932	D	0	-31.961	20.2822	0.98520	0.0:0.0:1.0:0.0	.	145;145	O95340;O95340-2	PAPS2_HUMAN;.	Q	145;145;149;144	ENSP00000354436:E145Q;ENSP00000406157:E145Q;ENSP00000397123:E149Q	ENSP00000354436:E145Q	E	+	1	0	PAPSS2	89463832	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.445000	0.97587	2.806000	0.96561	0.655000	0.94253	GAA	PAPSS2	-	pfam_APS_kinase,tigrfam_APS_kinase		0.393	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	G			89473852	+1	no_errors	ENST00000456849	ensembl	human	known	70_37	missense	SNP	1.000	C
PARVB	29780	genome.wustl.edu	37	22	44547423	44547423	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:44547423G>A	ENST00000338758.7	+	10	898	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PARVB_ENST00000406477.3_Missense_Mutation_p.E312K|PARVB_ENST00000404989.1_Missense_Mutation_p.E242K	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	279	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GACGGAACTGGAGACCCAGGT	0.507																																																	0													141.0	116.0	124.0					22																	44547423		2203	4300	6503	SO:0001583	missense	29780			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.835G>A	22.37:g.44547423G>A	ENSP00000342492:p.Glu279Lys		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E312K	ENST00000338758.7	37	c.934	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031331	0.93575	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.58358	0.34;0.34;0.34	5.19	5.19	0.71726	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.82056	2.57	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.996	D;D;D	0.71656	0.935;0.974;0.952	T	0.77648	-0.2509	10	0.72032	D	0.01	-27.1467	16.1844	0.81939	0.0:0.0:1.0:0.0	.	242;279;312	B0QYM8;Q9HBI1;Q9HBI1-2	.;PARVB_HUMAN;.	K	312;279;242	ENSP00000384515:E312K;ENSP00000342492:E279K;ENSP00000384353:E242K	ENSP00000342492:E279K	E	+	1	0	PARVB	42878756	1.000000	0.71417	0.973000	0.42090	0.876000	0.50452	9.077000	0.94016	2.387000	0.81309	0.609000	0.83330	GAG	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.507	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	G	NM_001003828		44547423	+1	no_errors	ENST00000406477	ensembl	human	known	70_37	missense	SNP	1.000	A
PATL1	219988	genome.wustl.edu	37	11	59426377	59426377	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:59426377C>G	ENST00000300146.9	-	4	472	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	130	Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCAGAACTTCAGATCCATCC	0.373																																																	0													71.0	64.0	66.0					11																	59426377		692	1591	2283	SO:0001583	missense	219988			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.388G>C	11.37:g.59426377C>G	ENSP00000300146:p.Glu130Gln		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.E130Q	ENST00000300146.9	37	c.388	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632784	0.29068	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.44083	0.93	5.0	5.0	0.66597	.	0.235335	0.41605	D	0.000853	T	0.21427	0.0516	N	0.08118	0	0.29839	N	0.829415	B;B	0.31413	0.232;0.322	B;B	0.30316	0.07;0.114	T	0.12319	-1.0552	10	0.13853	T	0.58	-15.9172	12.188	0.54250	0.1704:0.8296:0.0:0.0	.	130;130	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Q	130	ENSP00000300146:E130Q	ENSP00000300146:E130Q	E	-	1	0	PATL1	59182953	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.026000	0.41069	2.319000	0.78375	0.644000	0.83932	GAA	PATL1	-	pfam_Topo_II-assoc_PAT1		0.373	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	C	NM_152716		59426377	-1	no_errors	ENST00000300146	ensembl	human	known	70_37	missense	SNP	1.000	G
PBXIP1	57326	genome.wustl.edu	37	1	154924206	154924206	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154924206G>C	ENST00000368463.3	-	3	250				PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000368460.3_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGAAACTGAGAAACCCCA	0.458																																																	0																																										SO:0001627	intron_variant	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.178+64C>G	1.37:g.154924206G>C			Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	RNA	SNP	-	NULL	ENST00000368463.3	37	NULL	CCDS1074.1	1																																																																																			PBXIP1	-	-		0.458	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	G	NM_020524		154924206	-1	no_errors	ENST00000493133	ensembl	human	known	70_37	rna	SNP	0.000	C
PCCB	5096	genome.wustl.edu	37	3	135980905	135980905	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:135980905C>T	ENST00000251654.4	+	5	611	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	PCCB_ENST00000490504.1_Intron|PCCB_ENST00000462637.1_Silent_p.L158L|PCCB_ENST00000483687.1_Silent_p.L162L|PCCB_ENST00000471595.1_Silent_p.L181L|PCCB_ENST00000478469.1_Silent_p.L181L|PCCB_ENST00000469217.1_Silent_p.L201L|PCCB_ENST00000482086.1_Silent_p.L65L|PCCB_ENST00000468777.1_Silent_p.L212L|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Silent_p.L181L	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	181	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AGACATCTTTCTGGTGAGAAA	0.498																																																	0													35.0	35.0	35.0					3																	135980905		2190	4258	6448	SO:0001819	synonymous_variant	5096				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.541C>T	3.37:g.135980905C>T			B7Z2Z4|Q16813|Q96CX0	Silent	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.L181	ENST00000251654.4	37	c.541	CCDS3089.1	3																																																																																			PCCB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N		0.498	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1	C			135980905	+1	no_errors	ENST00000251654	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDH19	57526	genome.wustl.edu	37	X	99597021	99597021	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:99597021C>T	ENST00000373034.4	-	5	4403	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E863K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E862K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	910					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACTCTCCTCATGTCCACTA	0.493																																																	0													213.0	195.0	201.0					X																	99597021		2125	4198	6323	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2728G>A	X.37:g.99597021C>T	ENSP00000362125:p.Glu910Lys		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E910K	ENST00000373034.4	37	c.2728	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.147246	0.94603	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.57436	0.48;0.55;0.4	5.99	5.99	0.97316	.	0.102852	0.64402	D	0.000003	T	0.52964	0.1767	N	0.08118	0	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.972	D;P;P	0.73380	0.98;0.893;0.784	T	0.51965	-0.8638	10	0.12766	T	0.61	.	19.4045	0.94643	0.0:1.0:0.0:0.0	.	910;863;862	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	862;910;863	ENSP00000400327:E862K;ENSP00000362125:E910K;ENSP00000255531:E863K	ENSP00000255531:E863K	E	-	1	0	PCDH19	99483677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.412000	0.80091	2.536000	0.85505	0.600000	0.82982	GAG	PCDH19	-	NULL		0.493	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	C	NM_020766		99597021	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140249474	140249474	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140249474C>G	ENST00000398640.2	+	1	786	c.786C>G	c.(784-786)ctC>ctG	p.L262L	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	262	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTGTGCTCAAACTAAACG	0.398																																																	0													34.0	33.0	33.0					5																	140249474		1920	4142	6062	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.786C>G	5.37:g.140249474C>G			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L262	ENST00000398640.2	37	c.786	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.398	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	C	NM_018902		140249474	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	0.000	G
PCDHA5	56143	genome.wustl.edu	37	5	140201806	140201806	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140201806C>G	ENST00000529859.1	+	1	446	c.446C>G	c.(445-447)tCg>tGg	p.S149W	PCDHA5_ENST00000378126.3_Missense_Mutation_p.S149W|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S149W|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	149					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGATTCGCGGTTTCCG	0.423																																																	0													49.0	54.0	52.0					5																	140201806		2203	4300	6503	SO:0001583	missense	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.446C>G	5.37:g.140201806C>G	ENSP00000436557:p.Ser149Trp		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S149W	ENST00000529859.1	37	c.446	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503938	0.64410	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.21932	1.98;1.98;1.98	4.02	4.02	0.46733	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.60470	0.2271	H	0.95884	3.735	0.35496	D	0.799391	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.955;0.977	T	0.81437	-0.0933	9	0.87932	D	0	.	16.5119	0.84288	0.0:1.0:0.0:0.0	.	149;149;149	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	W	149	ENSP00000433416:S149W;ENSP00000436557:S149W;ENSP00000367366:S149W	ENSP00000367366:S149W	S	+	2	0	PCDHA5	140181990	0.545000	0.26449	0.905000	0.35620	0.985000	0.73830	4.753000	0.62183	1.946000	0.56461	0.591000	0.81541	TCG	PCDHA5	-	superfamily_Cadherin-like		0.423	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	C	NM_018908		140201806	+1	no_errors	ENST00000529859	ensembl	human	known	70_37	missense	SNP	0.454	G
PCDHA13	56136	genome.wustl.edu	37	5	140262969	140262969	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140262969C>T	ENST00000289272.2	+	1	1116	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I372I|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCCTAATCAGTGTGTCCG	0.498																																					Melanoma(147;1739 1852 5500 27947 37288)												0													128.0	127.0	127.0					5																	140262969		2203	4300	6503	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1116C>T	5.37:g.140262969C>T			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I372	ENST00000289272.2	37	c.1116	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.498	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	C	NM_018904		140262969	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	silent	SNP	0.110	T
PCDHB3	56132	genome.wustl.edu	37	5	140482531	140482531	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140482531C>G	ENST00000231130.2	+	1	2298	c.2298C>G	c.(2296-2298)ttC>ttG	p.F766L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	766					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCAA	0.532																																																	0													67.0	67.0	67.0					5																	140482531		2199	4280	6479	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2298C>G	5.37:g.140482531C>G	ENSP00000231130:p.Phe766Leu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F766L	ENST00000231130.2	37	c.2298	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291389	0.40494	.	.	ENSG00000113205	ENST00000231130	T	0.18657	2.2	4.17	2.37	0.29283	.	.	.	.	.	T	0.26412	0.0645	M	0.81682	2.555	0.27667	N	0.946882	B	0.19200	0.034	B	0.20384	0.029	T	0.24799	-1.0150	9	0.66056	D	0.02	.	7.104	0.25353	0.0:0.7038:0.0:0.2962	.	766	Q9Y5E6	PCDB3_HUMAN	L	766	ENSP00000231130:F766L	ENSP00000231130:F766L	F	+	3	2	PCDHB3	140462715	0.000000	0.05858	0.124000	0.21820	0.179000	0.23085	-0.660000	0.05317	0.334000	0.23590	0.491000	0.48974	TTC	PCDHB3	-	NULL		0.532	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140482531	+1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.964	G
PCDHB18	54660	genome.wustl.edu	37	5	140616070	140616070	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140616070C>T	ENST00000526308.1	+	0	2133					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGGACAATGGCGAGCCTCCGC	0.716																																																	0																																												54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140616070C>T			B3KTF8	RNA	SNP	-	NULL	ENST00000526308.1	37	NULL		5																																																																																			PCDHB18	-	-		0.716	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	HGNC	pseudogene	OTTHUMT00000394776.1	C			140616070	+1	no_errors	ENST00000526308	ensembl	human	known	70_37	rna	SNP	0.997	T
PCDHB15	56121	genome.wustl.edu	37	5	140625700	140625700	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:140625700G>C	ENST00000231173.3	+	1	554	c.554G>C	c.(553-555)cGa>cCa	p.R185P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R185Q(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCACCCGAGGGGATGGC	0.517																																																	1	Substitution - Missense(1)	NS(1)											44.0	45.0	45.0					5																	140625700		2203	4300	6503	SO:0001583	missense	56121			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.554G>C	5.37:g.140625700G>C	ENSP00000231173:p.Arg185Pro		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R185P	ENST00000231173.3	37	c.554	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515116	0.27123	.	.	ENSG00000113248	ENST00000231173	T	0.20200	2.09	4.92	-1.61	0.08399	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40067	0.1102	M	0.85099	2.735	0.09310	N	1	P	0.46656	0.882	P	0.61477	0.889	T	0.24083	-1.0170	9	0.39692	T	0.17	.	5.2054	0.15287	0.2806:0.0:0.4914:0.2281	.	185	Q9Y5E8	PCDBF_HUMAN	P	185	ENSP00000231173:R185P	ENSP00000231173:R185P	R	+	2	0	PCDHB15	140605884	0.000000	0.05858	0.001000	0.08648	0.514000	0.34195	-0.263000	0.08670	-0.308000	0.08792	-1.247000	0.01520	CGA	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	G	NM_018935		140625700	+1	no_errors	ENST00000231173	ensembl	human	known	70_37	missense	SNP	0.000	C
PCGF1	84759	genome.wustl.edu	37	2	74732735	74732735	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:74732735C>T	ENST00000233630.6	-	7	1506	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LBX2_ENST00000460508.3_5'Flank|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	199	Required for repressor activity.|Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TGGCGTACCTCAGCTCTAACA	0.557																																																	0													103.0	101.0	102.0					2																	74732735		2203	4300	6503	SO:0001583	missense	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.595G>A	2.37:g.74732735C>T	ENSP00000233630:p.Glu199Lys		Q7Z506	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E199K	ENST00000233630.6	37	c.595	CCDS1946.2	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017353	0.75161	.	.	ENSG00000115289	ENST00000233630	T	0.39056	1.1	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.44542	1.39	0.48975	D	0.999739	P	0.36577	0.558	B	0.33521	0.165	T	0.34079	-0.9843	10	0.66056	D	0.02	-13.3854	12.4947	0.55921	0.0:1.0:0.0:0.0	.	199	Q9BSM1	PCGF1_HUMAN	K	199	ENSP00000233630:E199K	ENSP00000233630:E199K	E	-	1	0	PCGF1	74586243	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.608000	0.61141	2.287000	0.76781	0.655000	0.94253	GAG	PCGF1	-	NULL		0.557	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF1	HGNC	protein_coding	OTTHUMT00000252216.1	C	NM_032673		74732735	-1	no_errors	ENST00000233630	ensembl	human	known	70_37	missense	SNP	0.998	T
PCLO	27445	genome.wustl.edu	37	7	82544421	82544421	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:82544421C>G	ENST00000333891.9	-	7	13218	c.12881G>C	c.(12880-12882)aGa>aCa	p.R4294T	PCLO_ENST00000423517.2_Missense_Mutation_p.R4294T|PCLO_ENST00000437081.1_Missense_Mutation_p.R1014T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						Agaggaaggtctggaggaagg	0.483																																																	0													18.0	19.0	19.0					7																	82544421		1942	4132	6074	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12881G>C	7.37:g.82544421C>G	ENSP00000334319:p.Arg4294Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R4294T	ENST00000333891.9	37	c.12881	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139678	0.56936	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.20332	2.08;2.08	5.69	5.69	0.88448	.	.	.	.	.	T	0.48537	0.1505	M	0.65498	2.005	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.43702	-0.9375	9	0.87932	D	0	.	19.8105	0.96544	0.0:1.0:0.0:0.0	.	4225;4294;4294	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	4294;4294;1014	ENSP00000334319:R4294T;ENSP00000388393:R4294T	ENSP00000334319:R4294T	R	-	2	0	PCLO	82382357	0.892000	0.30473	1.000000	0.80357	0.902000	0.53008	7.700000	0.84556	2.697000	0.92050	0.557000	0.71058	AGA	PCLO	-	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82544421	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.998	G
PCMTD2	55251	genome.wustl.edu	37	20	62891509	62891509	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62891509C>G	ENST00000308824.6	+	2	318	c.191C>G	c.(190-192)tCa>tGa	p.S64*	PCMTD2_ENST00000369758.4_Nonsense_Mutation_p.S64*|PCMTD2_ENST00000609372.1_Nonsense_Mutation_p.S64*|PCMTD2_ENST00000299468.7_Nonsense_Mutation_p.S64*	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	64						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATTCACCTCTCAGCCCCGTGC	0.483																																																	0													132.0	131.0	132.0					20																	62891509		2203	4300	6503	SO:0001587	stop_gained	55251			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.191C>G	20.37:g.62891509C>G	ENSP00000307854:p.Ser64*		E1P5H3|Q8IW60|Q9H4K2	Nonsense_Mutation	SNP	pfam_PCMT	p.S64*	ENST00000308824.6	37	c.191	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	38	6.929632	0.97944	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.0996	19.6287	0.95691	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000299468:S64X	S	+	2	0	PCMTD2	62361953	1.000000	0.71417	0.890000	0.34922	0.928000	0.56348	7.131000	0.77243	2.652000	0.90054	0.563000	0.77884	TCA	PCMTD2	-	pfam_PCMT		0.483	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	C	NM_018257		62891509	+1	no_errors	ENST00000308824	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PCNXL2	80003	genome.wustl.edu	37	1	233394164	233394164	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:233394164G>T	ENST00000258229.9	-	5	1678	c.1444C>A	c.(1444-1446)Cac>Aac	p.H482N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	482						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAAGAACTGTGATCCTTGATG	0.537																																																	0													66.0	69.0	68.0					1																	233394164		1992	4159	6151	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1444C>A	1.37:g.233394164G>T	ENSP00000258229:p.His482Asn		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.H482N	ENST00000258229.9	37	c.1444	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	4.085	0.013765	0.07959	.	.	ENSG00000135749	ENST00000258229	T	0.07688	3.17	4.48	-8.96	0.00761	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	9	0.25106	T	0.35	.	5.5023	0.16834	0.1479:0.2345:0.4693:0.1483	.	482	A6NKB5	PCX2_HUMAN	N	482	ENSP00000258229:H482N	ENSP00000258229:H482N	H	-	1	0	PCNXL2	231460787	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.418000	0.02462	-3.530000	0.00146	-0.793000	0.03317	CAC	PCNXL2	-	NULL		0.537	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394164	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	missense	SNP	0.000	T
PCNXL2	80003	genome.wustl.edu	37	1	233394695	233394695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:233394695G>A	ENST00000258229.9	-	5	1147	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	305						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGCTGTCCTGAGGTGACTTG	0.567																																																	0													74.0	76.0	75.0					1																	233394695		2055	4202	6257	SO:0001587	stop_gained	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.913C>T	1.37:g.233394695G>A	ENSP00000258229:p.Gln305*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.Q305*	ENST00000258229.9	37	c.913	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.461670	0.97585	.	.	ENSG00000135749	ENST00000258229	.	.	.	4.24	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.31826	N	0.625292	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	10.7143	0.46002	0.0903:0.0:0.9097:0.0	.	.	.	.	X	305	.	ENSP00000258229:Q305X	Q	-	1	0	PCNXL2	231461318	0.021000	0.18746	0.009000	0.14445	0.020000	0.10135	1.907000	0.39897	1.123000	0.41961	0.455000	0.32223	CAG	PCNXL2	-	NULL		0.567	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	G	NM_014801		233394695	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	nonsense	SNP	0.037	A
PCOLCE2	26577	genome.wustl.edu	37	3	142567129	142567129	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:142567129C>G	ENST00000295992.3	-	3	684	c.378G>C	c.(376-378)atG>atC	p.M126I	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.M126I	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	126	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CATCAGAAATCATCTGCACCA	0.517																																																	0													99.0	95.0	96.0					3																	142567129		2203	4300	6503	SO:0001583	missense	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.378G>C	3.37:g.142567129C>G	ENSP00000295992:p.Met126Ile		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.M126I	ENST00000295992.3	37	c.378	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768014	0.69878	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.17370	2.28;2.28	5.25	5.25	0.73442	CUB (5);	0.038381	0.85682	D	0.000000	T	0.32315	0.0825	M	0.62088	1.915	0.58432	D	0.999999	P	0.49862	0.929	P	0.50825	0.651	T	0.03103	-1.1072	10	0.87932	D	0	-23.6412	19.0791	0.93175	0.0:1.0:0.0:0.0	.	126	Q9UKZ9	PCOC2_HUMAN	I	126	ENSP00000295992:M126I;ENSP00000419842:M126I	ENSP00000295992:M126I	M	-	3	0	PCOLCE2	144049819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.742000	0.94016	0.644000	0.83932	ATG	PCOLCE2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.517	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	C	NM_013363		142567129	-1	no_errors	ENST00000295992	ensembl	human	known	70_37	missense	SNP	1.000	G
PCYT2	5833	genome.wustl.edu	37	17	79863284	79863284	+	Missense_Mutation	SNP	C	C	T	rs1803411		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:79863284C>T	ENST00000538936.2	-	11	1051	c.943G>A	c.(943-945)Gac>Aac	p.D315N	PCYT2_ENST00000538721.2_Missense_Mutation_p.D333N|PCYT2_ENST00000571105.1_Intron|PCYT2_ENST00000331285.3_Missense_Mutation_p.D237N|PCYT2_ENST00000570388.1_Missense_Mutation_p.D237N|PCYT2_ENST00000570391.1_Missense_Mutation_p.D283N	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	315					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CCATCCCTGTCAGGGATAATT	0.627																																																	0													53.0	40.0	44.0					17																	79863284		2184	4276	6460	SO:0001583	missense	5833			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.943G>A	17.37:g.79863284C>T	ENSP00000439245:p.Asp315Asn		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-like	p.D333N	ENST00000538936.2	37	c.997	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486598	0.44249	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.89	4.89	0.63831	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.152710	0.56097	D	0.000027	T	0.65575	0.2704	M	0.64404	1.975	0.53005	D	0.999965	B;B;B;B	0.17268	0.01;0.021;0.005;0.005	B;B;B;B	0.20767	0.024;0.031;0.024;0.008	T	0.61451	-0.7060	9	0.25751	T	0.34	-25.9617	18.2956	0.90145	0.0:1.0:0.0:0.0	.	283;333;237;315	B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;PCY2_HUMAN	N	333;315;237	.	ENSP00000331719:D237N	D	-	1	0	PCYT2	77456576	1.000000	0.71417	0.994000	0.49952	0.054000	0.15201	5.180000	0.65048	2.550000	0.86006	0.555000	0.69702	GAC	PCYT2	-	NULL		0.627	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	C	NM_002861		79863284	-1	no_errors	ENST00000538721	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE1C	5137	genome.wustl.edu	37	7	31917616	31917616	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:31917616C>T	ENST00000396191.1	-	5	914	c.459G>A	c.(457-459)ctG>ctA	p.L153L	PDE1C_ENST00000396193.1_Silent_p.L213L|PDE1C_ENST00000321453.7_Silent_p.L153L|PDE1C_ENST00000396184.3_Silent_p.L153L|PDE1C_ENST00000396182.2_Silent_p.L153L	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	153					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GTGGATAGCTCAGTCCAACCA	0.343																																																	0													123.0	115.0	117.0					7																	31917616		2203	4300	6503	SO:0001819	synonymous_variant	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.459G>A	7.37:g.31917616C>T			B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L153	ENST00000396191.1	37	c.459	CCDS55099.1	7																																																																																			PDE1C	-	NULL		0.343	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	C			31917616	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	silent	SNP	0.997	T
PDAP1	11333	genome.wustl.edu	37	7	99001128	99001128	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTCTTCTTCCTGTTTCAGA	0.453																																																	0													104.0	90.0	95.0					7																	99001128		2203	4300	6503	SO:0001630	splice_region_variant	11333			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.106-1G>A	7.37:g.99001128C>T			D6W5S5|Q92906	Missense_Mutation	SNP	pfam_Casein_kinase_sb_PP28	p.E36K	ENST00000350498.3	37	c.106	CCDS5662.1	7	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029612	0.19512	.	.	ENSG00000106244	ENST00000350498	.	.	.	3.84	3.84	0.44239	.	0.413491	0.27258	N	0.020184	T	0.43700	0.1259	L	0.34521	1.04	0.43608	D	0.995973	P	0.34587	0.458	B	0.39152	0.292	T	0.25916	-1.0118	9	0.06236	T	0.91	-24.7228	11.5931	0.50957	0.0:1.0:0.0:0.0	.	36	Q13442	HAP28_HUMAN	K	36	.	ENSP00000222968:E36K	E	-	1	0	PDAP1	98839064	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.247000	0.51422	2.447000	0.82792	0.454000	0.30748	GAA	PDAP1	-	NULL		0.453	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDAP1	HGNC	protein_coding	OTTHUMT00000336388.2	C	NM_014891	Missense_Mutation	99001128	-1	no_errors	ENST00000350498	ensembl	human	known	70_37	missense	SNP	1.000	T
PDHB	5162	genome.wustl.edu	37	3	58413856	58413856	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:58413856C>T	ENST00000302746.6	-	10	1027	c.985G>A	c.(985-987)Gat>Aat	p.D329N	RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000474765.1_Silent_p.*351*|PDHB_ENST00000485460.1_Missense_Mutation_p.D311N	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	329					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	ATAGGGACATCAGCACCAGTG	0.438																																																	0													78.0	72.0	74.0					3																	58413856		2203	4300	6503	SO:0001583	missense	5162				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.985G>A	3.37:g.58413856C>T	ENSP00000307241:p.Asp329Asn		B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.D329N	ENST00000302746.6	37	c.985	CCDS2890.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.860804	0.97036	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460	D;D;D	0.81659	-1.52;-1.52;-1.52	6.16	6.16	0.99307	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	M	0.88031	2.925	0.80722	D	1	P;P;D	0.71674	0.559;0.854;0.998	P;P;D	0.68039	0.697;0.539;0.955	D	0.91732	0.5397	10	0.72032	D	0.01	-23.399	20.8598	0.99761	0.0:1.0:0.0:0.0	.	311;311;329	B4DDD7;P11177-2;P11177	.;.;ODPB_HUMAN	N	329;311;311	ENSP00000307241:D329N;ENSP00000373220:D311N;ENSP00000417267:D311N	ENSP00000307241:D329N	D	-	1	0	PDHB	58388896	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	7.456000	0.80751	2.937000	0.99478	0.650000	0.86243	GAT	PDHB	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.438	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	HGNC	protein_coding	OTTHUMT00000353558.1	C			58413856	-1	no_errors	ENST00000302746	ensembl	human	known	70_37	missense	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32088709	32088709	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:32088709C>A	ENST00000438447.1	+	20	5543	c.5155C>A	c.(5155-5157)Cac>Aac	p.H1719N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H1719N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1719					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGGCATTTTCACAGTCCGCC	0.493																																																	0													116.0	96.0	103.0					5																	32088709		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5155C>A	5.37:g.32088709C>A	ENSP00000402033:p.His1719Asn		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H1719N	ENST00000438447.1	37	c.5155	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562955	0.27915	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06528	3.29;3.29	5.22	3.43	0.39272	.	1.037060	0.07595	N	0.922759	T	0.05823	0.0152	L	0.43152	1.355	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.41716	-0.9493	10	0.22109	T	0.4	.	7.6194	0.28177	0.0:0.7456:0.1641:0.0903	.	1719	O15018	PDZD2_HUMAN	N	1719;1520;1719	ENSP00000402033:H1719N;ENSP00000282493:H1719N	ENSP00000282493:H1719N	H	+	1	0	PDZD2	32124466	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.180000	0.32005	0.570000	0.29347	-0.291000	0.09656	CAC	PDZD2	-	NULL		0.493	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	C			32088709	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.001	A
PEAK1	79834	genome.wustl.edu	37	15	77406906	77406906	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:77406906C>T	ENST00000560626.2	-	7	5308	c.4833G>A	c.(4831-4833)gaG>gaA	p.E1611E	PEAK1_ENST00000312493.4_Silent_p.E1611E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTCTGGGTTCTCATCAAAGG	0.557																																																	0													98.0	101.0	100.0					15																	77406906		1973	4167	6140	SO:0001819	synonymous_variant	79834				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4833G>A	15.37:g.77406906C>T			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E1611	ENST00000560626.2	37	c.4833	CCDS42062.1	15																																																																																			PEAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.557	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Uniprot_genename	protein_coding	OTTHUMT00000419483.3	C			77406906	-1	no_errors	ENST00000312493	ensembl	human	known	70_37	silent	SNP	1.000	T
PER1	5187	genome.wustl.edu	37	17	8045610	8045610	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:8045610C>T	ENST00000317276.4	-	21	3663	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.M1119I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1142					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTAGGTCATCATGACGCGCT	0.592			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													68.0	64.0	65.0					17																	8045610		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3426G>A	17.37:g.8045610C>T	ENSP00000314420:p.Met1142Ile		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.M1142I	ENST00000317276.4	37	c.3426	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985841	0.74589	.	.	ENSG00000179094	ENST00000317276	T	0.16457	2.34	5.84	5.84	0.93424	Period circadian-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.77616	2.38	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.36237	-0.9756	10	0.72032	D	0.01	-18.1455	17.6318	0.88111	0.0:1.0:0.0:0.0	.	1142	O15534	PER1_HUMAN	I	1142	ENSP00000314420:M1142I	ENSP00000314420:M1142I	M	-	3	0	PER1	7986335	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.468000	0.80943	2.779000	0.95612	0.655000	0.94253	ATG	PER1	-	pfam_Period_circadian-like_C		0.592	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8045610	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	T
PER3	8863	genome.wustl.edu	37	1	7863191	7863191	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:7863191G>C	ENST00000361923.2	+	8	1129	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PER3_ENST00000377532.3_Silent_p.L319L|PER3_ENST00000377541.1_Silent_p.L318L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	318	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		ATCGTTCTCTGATGGTTGCCA	0.418																																																	0													172.0	150.0	158.0					1																	7863191		2203	4300	6503	SO:0001819	synonymous_variant	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.954G>C	1.37:g.7863191G>C			Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L318	ENST00000361923.2	37	c.954	CCDS89.1	1																																																																																			PER3	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS		0.418	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7863191	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	silent	SNP	0.984	C
PEX5	5830	genome.wustl.edu	37	12	7361104	7361104	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7361104G>C	ENST00000455147.2	+	14	1813	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	PEX5_ENST00000266564.3_Silent_p.V403V|PEX5_ENST00000266563.5_Silent_p.V374V|PEX5_ENST00000412720.2_Silent_p.V432V|PEX5_ENST00000420616.2_Silent_p.V411V|PEX5_ENST00000434354.2_Silent_p.V426V	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	411					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CGCTGGCTGTGAGCTTCACCA	0.552																																																	0													60.0	54.0	56.0					12																	7361104		2203	4300	6503	SO:0001819	synonymous_variant	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1233G>C	12.37:g.7361104G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V426	ENST00000455147.2	37	c.1278	CCDS44823.1	12																																																																																			PEX5	-	pfscan_TPR-contain_dom		0.552	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7361104	+1	no_errors	ENST00000434354	ensembl	human	known	70_37	silent	SNP	0.327	C
PGM1	5236	genome.wustl.edu	37	1	64117280	64117280	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:64117280G>C	ENST00000371084.3	+	9	1493				PGM1_ENST00000371083.4_Intron|PGM1_ENST00000540265.1_Intron|PGM1_ENST00000483707.1_3'UTR	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTGCTGACTGATAGGCCTTG	0.488																																																	0																																										SO:0001627	intron_variant	5236			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1281-60G>C	1.37:g.64117280G>C			B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	RNA	SNP	-	NULL	ENST00000371084.3	37	NULL	CCDS625.1	1																																																																																			PGM1	-	-		0.488	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	G	NM_002633		64117280	+1	no_errors	ENST00000483707	ensembl	human	known	70_37	rna	SNP	0.003	C
PHB2	11331	genome.wustl.edu	37	12	7077021	7077021	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7077021C>G	ENST00000535923.1	-	5	889				SCARNA12_ENST00000459155.1_RNA|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000440277.1_Intron|PHB2_ENST00000399433.2_Intron|PHB2_ENST00000542912.1_Intron|U47924.29_ENST00000606539.1_RNA|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TCCTGCATCTCAGAAGCCCTC	0.612																																																	0													178.0	186.0	183.0					12																	7077021		2029	4187	6216	SO:0001627	intron_variant	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.607+33G>C	12.37:g.7077021C>G				Nonstop_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.*214S	ENST00000535923.1	37	c.641	CCDS53741.1	12																																																																																			PHB2	-	NULL		0.612	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	C	NM_007273		7077021	-1	no_errors	ENST00000543465	ensembl	human	known	70_37	nonstop	SNP	0.007	G
PHB2	11331	genome.wustl.edu	37	12	7077636	7077636	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:7077636C>G	ENST00000535923.1	-	4	696	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	SCARNA12_ENST00000459155.1_RNA|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000440277.1_Missense_Mutation_p.E139Q|PHB2_ENST00000399433.2_Missense_Mutation_p.E139Q|PHB2_ENST00000542912.1_Missense_Mutation_p.E139Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TTGAGCACCTCGTTGACAATG	0.582																																																	0													90.0	90.0	90.0					12																	7077636		2123	4235	6358	SO:0001583	missense	11331			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.415G>C	12.37:g.7077636C>G	ENSP00000441875:p.Glu139Gln			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.E139Q	ENST00000535923.1	37	c.415	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827401	0.90955	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	5.31	4.42	0.53409	.	0.000000	0.85682	U	0.000000	D	0.98289	0.9433	H	0.97806	4.08	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99260	1.0890	10	0.87932	D	0	-20.0699	14.1082	0.65104	0.0:0.9275:0.0:0.0725	.	139;139;139	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	139;139;139;139;175;150	ENSP00000441875:E139Q;ENSP00000440317:E139Q;ENSP00000382362:E139Q;ENSP00000412856:E139Q;ENSP00000441662:E175Q;ENSP00000439029:E150Q	ENSP00000382362:E139Q	E	-	1	0	PHB2	6947897	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.776000	0.85560	1.376000	0.46267	0.655000	0.94253	GAG	PHB2	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.582	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	C	NM_007273		7077636	-1	no_errors	ENST00000399433	ensembl	human	known	70_37	missense	SNP	1.000	G
JADE2	23338	genome.wustl.edu	37	5	133873703	133873703	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:133873703C>G	ENST00000402835.1	+	3	338	c.83C>G	c.(82-84)tCa>tGa	p.S28*	PHF15_ENST00000282605.4_Nonsense_Mutation_p.S28*|PHF15_ENST00000395003.1_Nonsense_Mutation_p.S28*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.S28*																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCCGCATCAAGATGCTCC	0.572																																																	0													89.0	83.0	85.0					5																	133873703		2203	4300	6503	SO:0001587	stop_gained	23338																														ENST00000402835.1:c.83C>G	5.37:g.133873703C>G	ENSP00000384671:p.Ser28*			Nonsense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S44*	ENST00000402835.1	37	c.131		5	.	.	.	.	.	.	.	.	.	.	C	38	6.657164	0.97739	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	.	.	.	5.77	4.9	0.64082	.	23.323500	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.5355	0.56140	0.0:0.9239:0.0:0.0761	.	.	.	.	X	28;28;44;28;28;28;28;28;28	.	ENSP00000282605:S28X	S	+	2	0	PHF15	133901602	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.157000	0.50716	2.724000	0.93272	0.561000	0.74099	TCA	PHF15	-	NULL		0.572	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	C			133873703	+1	no_errors	ENST00000448712	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PHKA1	5255	genome.wustl.edu	37	X	71800867	71800867	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:71800867G>T	ENST00000373542.4	-	32	3816	c.3657C>A	c.(3655-3657)atC>atA	p.I1219I	PHKA1_ENST00000373539.3_Silent_p.I1236I|PHKA1_ENST00000339490.3_Silent_p.I1206I|PHKA1_ENST00000541944.1_Silent_p.I1147I|PHKA1_ENST00000373545.3_Silent_p.I1177I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1219					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCATGGCACAGATGCTGTGGG	0.552																																																	0													69.0	52.0	58.0					X																	71800867		2203	4300	6503	SO:0001819	synonymous_variant	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3657C>A	X.37:g.71800867G>T			B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.I1236	ENST00000373542.4	37	c.3708	CCDS14421.1	X																																																																																			PHKA1	-	NULL		0.552	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71800867	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	silent	SNP	0.967	T
PHOSPHO2	493911	genome.wustl.edu	37	2	170557671	170557671	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170557671G>C	ENST00000359744.3	+	4	578	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	64							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AAGAGAACATGAAATGAAAAG	0.358																																																	0													111.0	111.0	111.0					2																	170557671		2203	4300	6503	SO:0001583	missense	493911			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.190G>C	2.37:g.170557671G>C	ENSP00000352782:p.Glu64Gln		B2RC30|D3DPC7	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.E64Q	ENST00000359744.3	37	c.190	CCDS33319.1	2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582161	0.28180	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.46819	0.86;0.86	5.24	5.24	0.73138	HAD-like domain (1);	0.354602	0.27249	U	0.020232	T	0.38532	0.1044	L	0.27053	0.805	0.28367	N	0.920193	B	0.13594	0.008	B	0.23419	0.046	T	0.11743	-1.0575	10	0.16420	T	0.52	.	19.1808	0.93622	0.0:0.0:1.0:0.0	.	64	Q8TCD6	PHOP2_HUMAN	Q	64	ENSP00000352782:E64Q;ENSP00000411844:E64Q	ENSP00000352782:E64Q	E	+	1	0	PHOSPHO2	170265917	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.374000	0.66167	2.604000	0.88044	0.655000	0.94253	GAA	PHOSPHO2	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.358	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO2	HGNC	protein_coding	OTTHUMT00000333304.1	G	NM_001008489		170557671	+1	no_errors	ENST00000359744	ensembl	human	known	70_37	missense	SNP	1.000	C
PHOSPHO2	493911	genome.wustl.edu	37	2	170557827	170557827	+	Missense_Mutation	SNP	G	G	C	rs201792555		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:170557827G>C	ENST00000359744.3	+	4	734	c.346G>C	c.(346-348)Gac>Cac	p.D116H	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	116							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CAGTTTTCATGACATATTTGA	0.313																																																	0													52.0	53.0	53.0					2																	170557827		2203	4300	6503	SO:0001583	missense	493911			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.346G>C	2.37:g.170557827G>C	ENSP00000352782:p.Asp116His		B2RC30|D3DPC7	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.D116H	ENST00000359744.3	37	c.346	CCDS33319.1	2	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347646	0.01266	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.48201	0.82;0.82	5.81	3.03	0.35002	HAD-like domain (2);	0.550760	0.17776	U	0.162412	T	0.32346	0.0826	L	0.33189	0.99	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.16217	-1.0410	10	0.27785	T	0.31	.	6.3126	0.21173	0.3318:0.1197:0.5485:0.0	.	116	Q8TCD6	PHOP2_HUMAN	H	116	ENSP00000352782:D116H;ENSP00000411844:D116H	ENSP00000352782:D116H	D	+	1	0	PHOSPHO2	170266073	0.105000	0.21958	0.073000	0.20177	0.015000	0.08874	1.385000	0.34408	0.813000	0.34350	-0.140000	0.14226	GAC	PHOSPHO2	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.313	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO2	HGNC	protein_coding	OTTHUMT00000333304.1	G	NM_001008489		170557827	+1	no_errors	ENST00000359744	ensembl	human	known	70_37	missense	SNP	0.004	C
PIAS3	10401	genome.wustl.edu	37	1	145579296	145579296	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145579296C>G	ENST00000393045.2	+	5	723	c.633C>G	c.(631-633)ctC>ctG	p.L211L	PIAS3_ENST00000369299.3_Silent_p.L202L|PIAS3_ENST00000369298.1_Silent_p.L176L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	211	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCAACCTCTTTGTCAAGG	0.453																																																	0													119.0	115.0	117.0					1																	145579296		2203	4300	6503	SO:0001819	synonymous_variant	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.633C>G	1.37:g.145579296C>G			Q9UFI3	Silent	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.L211	ENST00000393045.2	37	c.633	CCDS920.2	1																																																																																			PIAS3	-	NULL		0.453	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	C	NM_006099		145579296	+1	no_errors	ENST00000393045	ensembl	human	known	70_37	silent	SNP	1.000	G
PIAS3	10401	genome.wustl.edu	37	1	145584227	145584227	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145584227G>A	ENST00000393045.2	+	11	1468	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	PIAS3_ENST00000369298.1_Missense_Mutation_p.D425N	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	460	SUMO1-binding. {ECO:0000250}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.D451N(1)|p.D460N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATGAGGAGGATCTGCCCCC	0.507																																																	2	Substitution - Missense(2)	cervix(2)											124.0	128.0	127.0					1																	145584227		2203	4300	6503	SO:0001583	missense	10401			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1378G>A	1.37:g.145584227G>A	ENSP00000376765:p.Asp460Asn		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.D460N	ENST00000393045.2	37	c.1378	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140366	0.77775	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35605	1.31;1.3	5.64	5.64	0.86602	.	0.168163	0.40469	N	0.001088	T	0.45657	0.1353	L	0.43923	1.385	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.23833	-1.0177	10	0.54805	T	0.06	-16.8922	17.243	0.87019	0.0:0.0:1.0:0.0	.	460	Q9Y6X2	PIAS3_HUMAN	N	460;425	ENSP00000376765:D460N;ENSP00000358304:D425N	ENSP00000358304:D425N	D	+	1	0	PIAS3	144295584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.937000	0.99478	0.650000	0.86243	GAT	PIAS3	-	NULL		0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	G	NM_006099		145584227	+1	no_errors	ENST00000393045	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3C2B	5287	genome.wustl.edu	37	1	204400760	204400760	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:204400760G>A	ENST00000367187.3	-	29	4837				PIK3C2B_ENST00000424712.2_Intron|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCCCCTCCCCGACATCCCTCT	0.537											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55.0	54.0	55.0					1																	204400760		2203	4300	6503	SO:0001627	intron_variant	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4280+36C>T	1.37:g.204400760G>A		2144	O95666|Q5SW99	RNA	SNP	-	NULL	ENST00000367187.3	37	NULL	CCDS1446.1	1																																																																																			PIK3C2B	-	-		0.537	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	G	NM_002646		204400760	-1	no_errors	ENST00000462752	ensembl	human	known	70_37	rna	SNP	0.000	A
PIK3C2G	5288	genome.wustl.edu	37	12	18715808	18715808	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:18715808C>T	ENST00000266497.5	+	25	3677	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F	PIK3C2G_ENST00000433979.1_Silent_p.F1213F|PIK3C2G_ENST00000538779.1_Silent_p.F1254F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1213	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTAGGGTTCAGCAAGAAAT	0.408																																																	0													108.0	105.0	106.0					12																	18715808		1859	4105	5964	SO:0001819	synonymous_variant	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3639C>T	12.37:g.18715808C>T			A1L3U0	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.F1254	ENST00000266497.5	37	c.3762	CCDS44839.1	12																																																																																			PIK3C2G	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	C	NM_004570		18715808	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	silent	SNP	1.000	T
PIK3CD	5293	genome.wustl.edu	37	1	9784411	9784411	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:9784411C>T	ENST00000377346.4	+	22	2991	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	PIK3CD_ENST00000361110.2_Silent_p.F956F|PIK3CD_ENST00000536656.1_Silent_p.F956F	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	932	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTGTCCCATTCATCCTCACCT	0.512																																																	0													110.0	122.0	118.0					1																	9784411		2203	4300	6503	SO:0001819	synonymous_variant	5293				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2796C>T	1.37:g.9784411C>T			A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.F956	ENST00000377346.4	37	c.2868	CCDS104.1	1																																																																																			PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.512	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	C	NM_005026		9784411	+1	no_errors	ENST00000536656	ensembl	human	known	70_37	silent	SNP	1.000	T
PIK3R3	8503	genome.wustl.edu	37	1	46512224	46512224	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:46512224C>T	ENST00000262741.5	-	8	1704	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	PIK3R3_ENST00000420542.1_Splice_Site_p.E339K|PIK3R3_ENST00000540385.1_Splice_Site_p.E385K|PIK3R3_ENST00000354242.4_Splice_Site_p.E280K|PIK3R3_ENST00000423209.1_Splice_Site_p.E280K|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000340332.6_Splice_Site_p.E244K|PIK3R3_ENST00000372006.1_Splice_Site_p.E339K|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	339					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGAACTTACTCATCAGCATCC	0.428																																																	0													172.0	163.0	166.0					1																	46512224		2203	4300	6503	SO:0001630	splice_region_variant	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1016+1G>A	1.37:g.46512224C>T			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.E385K	ENST00000262741.5	37	c.1153	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129848	0.77549	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85484	-1.27;-1.27;-1.27;-1.39;-1.99;-1.26;-1.39	5.1	5.1	0.69264	.	0.420768	0.27932	N	0.017279	T	0.76644	0.4016	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B	0.25048	0.117;0.023;0.015;0.036	B;B;B;B	0.31946	0.138;0.045;0.02;0.06	T	0.70114	-0.4961	10	0.13470	T	0.59	-7.4202	19.0925	0.93233	0.0:1.0:0.0:0.0	.	385;372;280;339	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	339;339;339;280;244;385;280	ENSP00000361075:E339K;ENSP00000262741:E339K;ENSP00000412546:E339K;ENSP00000346188:E280K;ENSP00000342484:E244K;ENSP00000439913:E385K;ENSP00000391431:E280K	ENSP00000262741:E339K	E	-	1	0	PIK3R3	46284811	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.591000	0.82666	2.824000	0.97209	0.655000	0.94253	GAG	PIK3R3	-	NULL		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	C	NM_003629	Missense_Mutation	46512224	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	1.000	T
PILRA	29992	genome.wustl.edu	37	7	99997548	99997548	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99997548C>T	ENST00000198536.2	+	0	1142				PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_3'UTR|PILRA_ENST00000453419.1_Nonsense_Mutation_p.Q225*	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha						signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTCTCAAGACTGAAT	0.582																																																	0													83.0	80.0	81.0					7																	99997548		2203	4300	6503	SO:0001624	3_prime_UTR_variant	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.*18C>T	7.37:g.99997548C>T			Q8NHI1	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q225*	ENST00000198536.2	37	c.673	CCDS5691.1	7	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336620	0.24253	.	.	ENSG00000085514	ENST00000453419	.	.	.	1.66	0.635	0.17723	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8344	0.05509	0.0:0.5538:0.0:0.4462	.	.	.	.	X	225	.	.	Q	+	1	0	PILRA	99835484	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.950000	0.03889	0.212000	0.20703	0.455000	0.32223	CAA	PILRA	-	NULL		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRA	HGNC	protein_coding	OTTHUMT00000339016.1	C	NM_013439		99997548	+1	no_errors	ENST00000453419	ensembl	human	novel	70_37	nonsense	SNP	0.001	T
PIM1	5292	genome.wustl.edu	37	6	37138618	37138618	+	Missense_Mutation	SNP	C	C	G	rs551680157		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:37138618C>G	ENST00000373509.5	+	2	525	c.152C>G	c.(151-153)tCg>tGg	p.S51W		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	142					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGCTTCGGCTCGGTCTACTCA	0.711			T	BCL6	NHL																																			Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0													19.0	29.0	25.0					6																	37138618		2176	4273	6449	SO:0001583	missense	5292				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.152C>G	6.37:g.37138618C>G	ENSP00000362608:p.Ser51Trp		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S51W	ENST00000373509.5	37	c.152	CCDS4830.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163599	0.78226	.	.	ENSG00000137193	ENST00000373509	T	0.67865	-0.29	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084828	0.48286	D	0.000184	T	0.76248	0.3961	M	0.73430	2.235	0.54753	D	0.999982	D	0.76494	0.999	D	0.71414	0.973	T	0.80011	-0.1561	10	0.87932	D	0	.	14.3137	0.66434	0.0:0.8506:0.1494:0.0	.	142	P11309	PIM1_HUMAN	W	51	ENSP00000362608:S51W	ENSP00000362608:S51W	S	+	2	0	PIM1	37246596	0.110000	0.22057	0.945000	0.38365	0.997000	0.91878	3.576000	0.53878	2.294000	0.77228	0.549000	0.68633	TCG	PIM1	-	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		0.711	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	HGNC	protein_coding	OTTHUMT00000043903.1	C			37138618	+1	no_errors	ENST00000373509	ensembl	human	known	70_37	missense	SNP	0.996	G
PITPNA	5306	genome.wustl.edu	37	17	1456312	1456312	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:1456312G>C	ENST00000313486.7	-	3	438	c.183C>G	c.(181-183)atC>atG	p.I61M	PITPNA_ENST00000539476.1_Missense_Mutation_p.I61M	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	61					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GCAGGTGGTAGATCTTGTGTG	0.507																																																	0													175.0	177.0	176.0					17																	1456312		2083	4213	6296	SO:0001583	missense	5306			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.183C>G	17.37:g.1456312G>C	ENSP00000316809:p.Ile61Met			Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.I61M	ENST00000313486.7	37	c.183	CCDS45563.1	17	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850861	0.71719	.	.	ENSG00000174238	ENST00000539476;ENST00000313486	T;T	0.54675	0.56;0.56	6.16	6.16	0.99307	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	M	0.91196	3.185	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.81391	-0.0954	10	0.87932	D	0	.	13.0629	0.59018	0.0724:0.0:0.9276:0.0	.	61	Q00169	PIPNA_HUMAN	M	61	ENSP00000441869:I61M;ENSP00000316809:I61M	ENSP00000316809:I61M	I	-	3	3	PITPNA	1403062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.983000	0.56916	2.937000	0.99478	0.650000	0.86243	ATC	PITPNA	-	pfam_PI_transfer		0.507	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNA	HGNC	protein_coding	OTTHUMT00000438927.3	G			1456312	-1	no_errors	ENST00000313486	ensembl	human	known	70_37	missense	SNP	1.000	C
PIRT	644139	genome.wustl.edu	37	17	10728847	10728847	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:10728847G>A	ENST00000580256.2	-	2	754	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	39						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGTCCAGACAGACTCGCTCCT	0.592																																																	0													41.0	42.0	42.0					17																	10728847		2027	4166	6193	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.116C>T	17.37:g.10728847G>A	ENSP00000462046:p.Ser39Phe		B7Z648	Missense_Mutation	SNP	NULL	p.S39F	ENST00000580256.2	37	c.116	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	G	25.3	4.618977	0.87460	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.66982	0.2845	L	0.29908	0.895	0.54753	D	0.999982	D	0.76494	0.999	D	0.87578	0.998	T	0.69254	-0.5193	8	0.87932	D	0	-21.1532	16.8609	0.86018	0.0:0.0:1.0:0.0	.	39	P0C851	PIRT_HUMAN	F	39	.	ENSP00000408936:S39F	S	-	2	0	PIRT	10669572	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.771000	0.85420	2.840000	0.97914	0.655000	0.94253	TCT	PIRT	-	NULL		0.592	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	G	NM_001101387		10728847	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2139796	2139796	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2139796C>G	ENST00000262304.4	-	46	13052	c.12844G>C	c.(12844-12846)Gac>Cac	p.D4282H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.D4281H|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4282					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGCCAGGTCCACACCCCGA	0.731																																																	0													5.0	7.0	7.0					16																	2139796		1957	4053	6010	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12844G>C	16.37:g.2139796C>G	ENSP00000262304:p.Asp4282His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D4282H	ENST00000262304.4	37	c.12844	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455696	0.43634	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.35605	1.3;1.3	4.19	3.15	0.36227	.	0.533626	0.18541	N	0.138210	T	0.30823	0.0777	N	0.22421	0.69	0.09310	N	1	B;P	0.51653	0.295;0.947	B;P	0.49999	0.022;0.628	T	0.05954	-1.0854	10	0.51188	T	0.08	.	9.0443	0.36336	0.0:0.7737:0.2263:0.0	.	4281;4282	P98161-3;P98161	.;PKD1_HUMAN	H	4282;4281;3616	ENSP00000262304:D4282H;ENSP00000399501:D4281H	ENSP00000262304:D4282H	D	-	1	0	PKD1	2079797	0.005000	0.15991	0.003000	0.11579	0.017000	0.09413	0.944000	0.29043	1.874000	0.54306	0.491000	0.48974	GAC	PKD1	-	NULL		0.731	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2139796	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.004	G
PKD1	5310	genome.wustl.edu	37	16	2158445	2158445	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2158445C>G	ENST00000262304.4	-	15	6931	c.6723G>C	c.(6721-6723)ctG>ctC	p.L2241L	PKD1_ENST00000423118.1_Silent_p.L2241L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2241	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGCTCTGTGTCAGTGGCGTGT	0.652																																																	0													56.0	53.0	54.0					16																	2158445		2192	4290	6482	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6723G>C	16.37:g.2158445C>G			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L2241	ENST00000262304.4	37	c.6723	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2158445	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.900	G
PKD1	5310	genome.wustl.edu	37	16	2161289	2161289	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:2161289G>T	ENST00000262304.4	-	15	4087	c.3879C>A	c.(3877-3879)gtC>gtA	p.V1293V	PKD1_ENST00000423118.1_Silent_p.V1293V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1293	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACCTCCAGGACGAAGACCA	0.701																																																	0													15.0	17.0	16.0					16																	2161289		2174	4280	6454	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3879C>A	16.37:g.2161289G>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1293	ENST00000262304.4	37	c.3879	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2161289	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	1.000	T
PKD1L3	342372	genome.wustl.edu	37	16	71986853	71986853	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:71986853G>C	ENST00000534738.1	-	0	2948							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AGGAGGCCTGGATGGGAGGAA	0.468																																																	0													75.0	76.0	76.0					16																	71986853		692	1591	2283			342372			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71986853G>C				RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-		0.468	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	G	NM_181536		71986853	-1	no_errors	ENST00000335106	ensembl	human	known	70_37	rna	SNP	0.000	C
PKDCC	91461	genome.wustl.edu	37	2	42275817	42275817	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:42275817G>A	ENST00000294964.5	+	1	658	c.478G>A	c.(478-480)Ggt>Agt	p.G160S		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						CCTGCCCGGCGGTGCCGCGGT	0.731																																																	0													5.0	7.0	7.0					2																	42275817		663	1561	2224	SO:0001583	missense	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.478G>A	2.37:g.42275817G>A	ENSP00000294964:p.Gly160Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.G160S	ENST00000294964.5	37	c.478	CCDS33186.2	2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481672	0.44147	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.15	3.15	0.36227	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.20007	0.0481	N	0.13299	0.325	0.33665	D	0.610252	P	0.42483	0.781	B	0.32864	0.154	T	0.26258	-1.0108	8	0.51188	T	0.08	-8.1429	6.3552	0.21397	0.1392:0.0:0.8608:0.0	.	160	Q504Y2	PKDCC_HUMAN	S	160	.	ENSP00000294964:G160S	G	+	1	0	PKDCC	42129321	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.561000	0.53770	1.778000	0.52293	0.289000	0.19496	GGT	PKDCC	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.731	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	G			42275817	+1	no_errors	ENST00000294964	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110400737	110400737	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:110400737G>A	ENST00000378402.5	+	7	685	c.581G>A	c.(580-582)gGa>gAa	p.G194E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	194	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTACATTGGAGGAATGCCC	0.299										HNSCC(38;0.096)																																							0													27.0	25.0	26.0					8																	110400737		1719	3828	5547	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.581G>A	8.37:g.110400737G>A	ENSP00000367655:p.Gly194Glu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G194E	ENST00000378402.5	37	c.581	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816458	0.70912	.	.	ENSG00000205038	ENST00000378402	D	0.83755	-1.76	5.33	4.45	0.53987	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88640	0.6491	L	0.59436	1.845	0.41080	D	0.985518	D	0.76494	0.999	D	0.77004	0.989	D	0.89496	0.3760	10	0.72032	D	0.01	.	13.2352	0.59965	0.0:0.0:0.8401:0.1599	.	194	Q86WI1	PKHL1_HUMAN	E	194	ENSP00000367655:G194E	ENSP00000367655:G194E	G	+	2	0	PKHD1L1	110469913	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.003000	0.76310	1.236000	0.43740	0.655000	0.94253	GGA	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110400737	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A
PKMYT1	9088	genome.wustl.edu	37	16	3025764	3025764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:3025764G>T	ENST00000262300.8	-	4	936	c.428C>A	c.(427-429)tCa>tAa	p.S143*	PKMYT1_ENST00000431515.2_Nonsense_Mutation_p.S143*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.S143*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.S74*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.S134*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.S134*	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGGAATGGTGACATGGAACG	0.672																																																	0													26.0	27.0	27.0					16																	3025764		2151	4230	6381	SO:0001587	stop_gained	9088			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.428C>A	16.37:g.3025764G>T	ENSP00000262300:p.Ser143*		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	p.S143*	ENST00000262300.8	37	c.428	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.081015	0.97267	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	.	.	.	5.69	4.73	0.59995	.	0.281834	0.35207	N	0.003369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-8.8923	12.7391	0.57241	0.0799:0.0:0.9201:0.0	.	.	.	.	X	143;143;143;143;134	.	ENSP00000262300:S143X	S	-	2	0	PKMYT1	2965765	1.000000	0.71417	0.897000	0.35233	0.974000	0.67602	3.583000	0.53928	1.400000	0.46741	0.655000	0.94253	TCA	PKMYT1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom		0.672	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	G	NM_004203		3025764	-1	no_errors	ENST00000262300	ensembl	human	known	70_37	nonsense	SNP	0.987	T
TINCR	257000	genome.wustl.edu	37	19	5562149	5562149	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5562149C>G	ENST00000448587.1	-	0	443					NR_027064.1				tissue differentiation-inducing non-protein coding RNA																		AAAGTGCCCTCTACCCCAGCC	0.522																																																	0																																												257000			BG354568		19p13.3	2013-09-11	2012-12-05	2012-12-05	ENSG00000223573	ENSG00000223573		"""Long non-coding RNAs"", ""-"""	14607	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 36"", ""long intergenic non-protein coding RNA 36"", ""terminal differentiation-induced ncRNA"""	615241	"""placenta-specific 2"", ""placenta-specific 2 (non-protein coding)"""	PLAC2		23201690, 24019000	Standard	NR_027064		Approved	FLJ90734, NCRNA00036, LINC00036	uc002mcc.5		OTTHUMG00000150390		19.37:g.5562149C>G				RNA	SNP	-	NULL	ENST00000448587.1	37	NULL		19																																																																																			PLAC2	-	-		0.522	TINCR-001	KNOWN	basic	lincRNA	PLAC2	HGNC	lincRNA	OTTHUMT00000317918.1	C	NR_027064		5562149	-1	no_errors	ENST00000448587	ensembl	human	known	70_37	rna	SNP	0.005	G
PLCB1	23236	genome.wustl.edu	37	20	8665705	8665705	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:8665705C>T	ENST00000338037.6	+	10	1016	c.989C>T	c.(988-990)tCg>tTg	p.S330L	PLCB1_ENST00000378637.2_Missense_Mutation_p.S330L|PLCB1_ENST00000378641.3_Missense_Mutation_p.S330L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATTAATTCCTCGCACAACACC	0.418																																																	0													196.0	194.0	195.0					20																	8665705		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.989C>T	20.37:g.8665705C>T	ENSP00000338185:p.Ser330Leu		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S330L	ENST00000338037.6	37	c.989	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.484887	0.96323	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.64260	-0.09;-0.09;-0.09	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.88771	0.6527	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92515	0.6020	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;330	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	330;330;330;250;250	ENSP00000367908:S330L;ENSP00000338185:S330L;ENSP00000367904:S330L	ENSP00000338185:S330L	S	+	2	0	PLCB1	8613705	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	TCG	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8665705	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	T
PLCB3	5331	genome.wustl.edu	37	11	64026147	64026147	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:64026147C>G	ENST00000540288.1	+	11	1318	c.1215C>G	c.(1213-1215)ccC>ccG	p.P405P	PLCB3_ENST00000279230.6_Silent_p.P405P|PLCB3_ENST00000325234.5_Silent_p.P338P	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	405	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGACCTCGCCCTACCCCGTCA	0.602																																																	0													111.0	93.0	99.0					11																	64026147		2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1215C>G	11.37:g.64026147C>G			A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P405	ENST00000540288.1	37	c.1215	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.602	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	C			64026147	+1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	1.000	G
PLCXD3	345557	genome.wustl.edu	37	5	41510616	41510616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:41510616G>A	ENST00000377801.3	-	1	87	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.Q5*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	5					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTTCCCCTGAGACGAGGCC	0.612																																																	0													45.0	38.0	41.0					5																	41510616		2203	4300	6503	SO:0001587	stop_gained	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.13C>T	5.37:g.41510616G>A	ENSP00000367032:p.Gln5*		A6NL04	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.Q5*	ENST00000377801.3	37	c.13	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.497608	0.98322	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	4.57	4.57	0.56435	.	0.238597	0.38897	N	0.001528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-8.2289	16.2935	0.82761	0.0:0.0:1.0:0.0	.	.	.	.	X	5	.	ENSP00000333751:Q5X	Q	-	1	0	PLCXD3	41546373	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.346000	0.90060	2.387000	0.81309	0.555000	0.69702	CAG	PLCXD3	-	NULL		0.612	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	G	XM_293875		41510616	-1	no_errors	ENST00000328457	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PLEKHM3	389072	genome.wustl.edu	37	2	208693146	208693146	+	Missense_Mutation	SNP	C	C	T	rs375834227		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:208693146C>T	ENST00000427836.2	-	8	2672	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	728					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCAGCTCTCGGCGAACACA	0.507																																																	0								C	GLN/ARG	0,4000		0,0,2000	94.0	99.0	98.0		2183	5.7	1.0	2		98	1,8349		0,1,4174	no	missense	PLEKHM3	NM_001080475.2	43	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	728/762	208693146	1,12349	2000	4175	6175	SO:0001583	missense	389072			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2183G>A	2.37:g.208693146C>T	ENSP00000417003:p.Arg728Gln		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R728Q	ENST00000427836.2	37	c.2183	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941096	0.92526	0.0	1.2E-4	ENSG00000178385	ENST00000427836	D	0.83673	-1.75	5.68	5.68	0.88126	.	0.426666	0.21403	N	0.075111	D	0.86851	0.6032	M	0.75884	2.315	0.80722	D	1	D	0.65815	0.995	P	0.54965	0.765	D	0.85975	0.1479	10	0.42905	T	0.14	.	9.9985	0.41913	0.0:0.8454:0.0:0.1546	.	728	Q6ZWE6	PKHM3_HUMAN	Q	728	ENSP00000417003:R728Q	ENSP00000417003:R728Q	R	-	2	0	PLEKHM3	208401391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.771000	0.47670	2.704000	0.92352	0.555000	0.69702	CGA	PLEKHM3	-	NULL		0.507	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	C	NM_001080475		208693146	-1	no_errors	ENST00000427836	ensembl	human	known	70_37	missense	SNP	0.990	T
PMS2P3	5387	genome.wustl.edu	37	7	75145447	75145447	+	RNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:75145447C>G	ENST00000418756.1	-	0	717				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						CTGTAGTTCTCCAACATCACA	0.473																																					NSCLC(70;602 1339 5301 18528 38453)												0													38.0	34.0	35.0					7																	75145447		2203	4297	6500			5387			D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145447C>G			A6NG70|Q3MJ29	RNA	SNP	-	NULL	ENST00000418756.1	37	NULL		7																																																																																			PMS2P3	-	-		0.473	PMS2P3-002	KNOWN	basic	processed_transcript	PMS2P3	HGNC	pseudogene	OTTHUMT00000342862.2	C	NR_028059		75145447	-1	no_errors	ENST00000394921	ensembl	human	known	70_37	rna	SNP	0.998	G
PLXNA4	91584	genome.wustl.edu	37	7	131853272	131853272	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:131853272G>A	ENST00000359827.3	-	22	5039	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	PLXNA4_ENST00000321063.4_Silent_p.I1359I			Q9HCM2	PLXA4_HUMAN	plexin A4	1359					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTTGTTGTTGATGAGCTGGG	0.597																																																	0													89.0	92.0	91.0					7																	131853272		2203	4300	6503	SO:0001819	synonymous_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4077C>T	7.37:g.131853272G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1359	ENST00000359827.3	37	c.4077	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	G	NM_181775		131853272	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	silent	SNP	1.000	A
PMVK	10654	genome.wustl.edu	37	1	154904829	154904829	+	Splice_Site	SNP	T	T	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154904829T>A	ENST00000368467.3	-	2	463	c.158A>T	c.(157-159)cAg>cTg	p.Q53L		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	53					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCACCTACCTGAGCATACTG	0.577																																																	0													105.0	91.0	96.0					1																	154904829		2203	4300	6503	SO:0001630	splice_region_variant	10654			L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.159+1A>T	1.37:g.154904829T>A			Q5TZW9	Missense_Mutation	SNP	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim	p.Q53L	ENST00000368467.3	37	c.158	CCDS1073.1	1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330230	0.41297	.	.	ENSG00000163344	ENST00000368467	T	0.43294	0.95	4.59	2.26	0.28386	.	0.289374	0.33515	N	0.004828	T	0.07188	0.0182	N	0.04636	-0.2	0.34830	D	0.739635	B	0.02656	0.0	B	0.04013	0.001	T	0.10776	-1.0615	10	0.40728	T	0.16	-17.2808	5.8208	0.18526	0.0:0.2206:0.0:0.7794	.	53	Q15126	PMVK_HUMAN	L	53	ENSP00000357452:Q53L	ENSP00000357452:Q53L	Q	-	2	0	PMVK	153171453	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.324000	0.52022	0.370000	0.24538	0.459000	0.35465	CAG	PMVK	-	pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim		0.577	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMVK	HGNC	protein_coding	OTTHUMT00000091088.1	T	NM_006556	Missense_Mutation	154904829	-1	no_errors	ENST00000368467	ensembl	human	known	70_37	missense	SNP	1.000	A
PNISR	25957	genome.wustl.edu	37	6	99854029	99854029	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:99854029C>T	ENST00000369239.5	-	8	1084	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PNISR_ENST00000438806.1_Missense_Mutation_p.E294K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	294						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTGTCTTCTTCTTCCTCATCA	0.388																																																	0													166.0	150.0	156.0					6																	99854029		2203	4300	6503	SO:0001583	missense	25957			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.880G>A	6.37:g.99854029C>T	ENSP00000358242:p.Glu294Lys		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.E294K	ENST00000369239.5	37	c.880	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261558	0.80358	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.43294	0.95;0.95	5.67	5.67	0.87782	.	0.190563	0.56097	D	0.000027	T	0.17789	0.0427	L	0.29908	0.895	0.46981	D	0.999279	B	0.19817	0.039	B	0.16289	0.015	T	0.13361	-1.0512	10	0.07813	T	0.8	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	294	Q8TF01	PNISR_HUMAN	K	294	ENSP00000358242:E294K;ENSP00000387997:E294K	ENSP00000358242:E294K	E	-	1	0	PNISR	99960750	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.299000	0.59073	2.835000	0.97688	0.591000	0.81541	GAA	PNISR	-	NULL		0.388	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	C	NM_032870		99854029	-1	no_errors	ENST00000369239	ensembl	human	known	70_37	missense	SNP	1.000	T
POLA2	23649	genome.wustl.edu	37	11	65064734	65064734	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:65064734G>A	ENST00000265465.3	+	18	2322	c.1791G>A	c.(1789-1791)agG>agA	p.R597R	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	597					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGTCGTCAGGATCTGAGGCT	0.592																																																	0													59.0	63.0	62.0					11																	65064734		2201	4297	6498	SO:0001819	synonymous_variant	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1791G>A	11.37:g.65064734G>A			B4DNB4|Q9BPV3	Silent	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.R597	ENST00000265465.3	37	c.1791	CCDS8098.1	11																																																																																			POLA2	-	pirsf_DNA_pol_alpha_bsu		0.592	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	G	NM_002689		65064734	+1	no_errors	ENST00000265465	ensembl	human	known	70_37	silent	SNP	1.000	A
POLK	51426	genome.wustl.edu	37	5	74865228	74865228	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:74865228G>A	ENST00000241436.4	+	4	491	c.319G>A	c.(319-321)Gac>Aac	p.D107N	POLK_ENST00000504026.1_Missense_Mutation_p.D107N|POLK_ENST00000515295.1_Missense_Mutation_p.D107N|POLK_ENST00000380481.3_Missense_Mutation_p.D17N|POLK_ENST00000352007.5_Missense_Mutation_p.D107N|POLK_ENST00000508526.1_Missense_Mutation_p.D107N|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	107	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTGCACATTGACATGGATGC	0.348								DNA polymerases (catalytic subunits)																																									0													98.0	92.0	94.0					5																	74865228		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.319G>A	5.37:g.74865228G>A	ENSP00000241436:p.Asp107Asn		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.D107N	ENST00000241436.4	37	c.319	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.941054	0.97128	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	D;D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	6.03	6.03	0.97812	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98370	1.0553	10	0.87932	D	0	-21.6158	20.5752	0.99366	0.0:0.0:1.0:0.0	.	107;107;107;107	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	N	107;107;107;107;107;107;17	ENSP00000241436:D107N;ENSP00000342256:D107N;ENSP00000425208:D107N;ENSP00000424174:D107N;ENSP00000425075:D107N;ENSP00000426853:D107N;ENSP00000369848:D17N	ENSP00000241436:D107N	D	+	1	0	POLK	74900984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	GAC	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.348	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74865228	+1	no_errors	ENST00000241436	ensembl	human	known	70_37	missense	SNP	1.000	A
POLK	51426	genome.wustl.edu	37	5	74865282	74865282	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:74865282G>A	ENST00000241436.4	+	4	545	c.373G>A	c.(373-375)Gat>Aat	p.D125N	POLK_ENST00000504026.1_Missense_Mutation_p.D125N|POLK_ENST00000515295.1_Missense_Mutation_p.D125N|POLK_ENST00000380481.3_Missense_Mutation_p.D35N|POLK_ENST00000352007.5_Missense_Mutation_p.D125N|POLK_ENST00000508526.1_Missense_Mutation_p.D125N|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	125	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGAATTGAAGGATAAACCCAT	0.358								DNA polymerases (catalytic subunits)																																									0													105.0	96.0	99.0					5																	74865282		2203	4300	6503	SO:0001583	missense	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.373G>A	5.37:g.74865282G>A	ENSP00000241436:p.Asp125Asn		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.D125N	ENST00000241436.4	37	c.373	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685697	0.47991	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	6.03	5.14	0.70334	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.337163	0.37348	N	0.002127	T	0.69223	0.3087	L	0.33245	0.995	0.46113	D	0.99887	B;B;B;B	0.29481	0.055;0.001;0.022;0.245	B;B;B;B	0.43575	0.039;0.008;0.067;0.424	T	0.68116	-0.5494	10	0.42905	T	0.14	-11.0392	13.2626	0.60113	0.0796:0.0:0.9204:0.0	.	125;125;125;125	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	N	125;125;125;125;125;125;35	ENSP00000241436:D125N;ENSP00000342256:D125N;ENSP00000425208:D125N;ENSP00000424174:D125N;ENSP00000425075:D125N;ENSP00000426853:D125N;ENSP00000369848:D35N	ENSP00000241436:D125N	D	+	1	0	POLK	74901038	1.000000	0.71417	0.630000	0.29268	0.538000	0.34931	6.752000	0.74898	1.475000	0.48197	0.557000	0.71058	GAT	POLK	-	pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N		0.358	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	G	NM_016218		74865282	+1	no_errors	ENST00000241436	ensembl	human	known	70_37	missense	SNP	1.000	A
POLM	27434	genome.wustl.edu	37	7	44112891	44112891	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:44112891C>T	ENST00000242248.5	-	11	1585	c.1484G>A	c.(1483-1485)tGa>tAa	p.*495*	POLM_ENST00000395831.3_Missense_Mutation_p.E433K|POLM_ENST00000335195.6_Silent_p.*458*|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGGCAGGCTCAGGCGTTTCT	0.567								DNA polymerases (catalytic subunits)																																									0													70.0	64.0	66.0					7																	44112891		2203	4300	6503	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1484G>A	7.37:g.44112891C>T			D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X	p.E433K	ENST00000242248.5	37	c.1297	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649392	0.87958	.	.	ENSG00000122678	ENST00000395831	T	0.27890	1.64	5.67	4.79	0.61399	.	0.277247	0.38663	N	0.001602	T	0.29423	0.0733	.	.	.	0.43250	D	0.995178	P	0.40731	0.728	B	0.39339	0.297	T	0.09207	-1.0685	9	0.87932	D	0	.	10.6211	0.45481	0.0:0.9115:0.0:0.0885	.	433	Q86WQ9	.	K	433	ENSP00000379174:E433K	ENSP00000379174:E433K	E	-	1	0	POLM	44079416	1.000000	0.71417	0.995000	0.50966	0.810000	0.45777	4.618000	0.61211	1.413000	0.46997	0.456000	0.33151	GAG	POLM	-	NULL		0.567	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	C	NM_013284		44112891	-1	no_errors	ENST00000395831	ensembl	human	novel	70_37	missense	SNP	1.000	T
POLM	27434	genome.wustl.edu	37	7	44113028	44113028	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:44113028C>T	ENST00000242248.5	-	11	1500				POLM_ENST00000395831.3_Splice_Site_p.G387E|POLM_ENST00000335195.6_Intron|POLM_ENST00000492971.1_5'Flank	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ACTGCTGCTTCCCTGCAGGAA	0.572								DNA polymerases (catalytic subunits)																																									0													40.0	36.0	37.0					7																	44113028		1327	2309	3636	SO:0001627	intron_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1399-52G>A	7.37:g.44113028C>T			D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X	p.G387E	ENST00000242248.5	37	c.1160	CCDS34625.1	7	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724294	0.30593	.	.	ENSG00000122678	ENST00000395831	T	0.47869	0.83	2.22	-1.2	0.09554	.	.	.	.	.	T	0.32912	0.0845	.	.	.	0.09310	N	1	P	0.40834	0.73	B	0.41088	0.347	T	0.17992	-1.0351	8	0.30078	T	0.28	0.3264	5.9936	0.19480	0.0:0.6292:0.0:0.3708	.	387	Q86WQ9	.	E	387	ENSP00000379174:G387E	ENSP00000379174:G387E	G	-	2	0	POLM	44079553	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-2.222000	0.01215	-0.445000	0.07159	0.430000	0.28490	GGA	POLM	-	smart_DNA-dir_DNA_pol_X		0.572	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	C	NM_013284		44113028	-1	no_errors	ENST00000395831	ensembl	human	novel	70_37	missense	SNP	0.002	T
POLQ	10721	genome.wustl.edu	37	3	121206962	121206962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:121206962G>A	ENST00000264233.5	-	16	4944	c.4816C>T	c.(4816-4818)Caa>Taa	p.Q1606*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1606					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTCCATCTTGATCACCTTGG	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													206.0	199.0	201.0					3																	121206962		2203	4300	6503	SO:0001587	stop_gained	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4816C>T	3.37:g.121206962G>A	ENSP00000264233:p.Gln1606*		O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.Q1606*	ENST00000264233.5	37	c.4816	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.290331	0.98189	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	6.04	-0.0498	0.13833	.	2.176020	0.01515	N	0.018098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	7.9658	0.30098	0.0:0.345:0.4129:0.2421	.	.	.	.	X	1229;1606;1742	.	ENSP00000264233:Q1606X	Q	-	1	0	POLQ	122689652	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.011000	0.12721	-0.311000	0.08754	-0.344000	0.07964	CAA	POLQ	-	NULL		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121206962	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	0.000	A
POLR1B	84172	genome.wustl.edu	37	2	113306970	113306970	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:113306970C>G	ENST00000263331.5	+	4	1199	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	POLR1B_ENST00000417433.2_Missense_Mutation_p.Q151E|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q207E|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q245E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	207					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGTTATACTCAGTATGGTAA	0.318																																					Ovarian(16;256 576 9537 23969 41147)												0													35.0	36.0	36.0					2																	113306970		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.619C>G	2.37:g.113306970C>G	ENSP00000263331:p.Gln207Glu		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.Q245E	ENST00000263331.5	37	c.733	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831990	0.16820	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.48	5.48	0.80851	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.216462	0.49916	D	0.000140	T	0.51618	0.1685	N	0.05534	-0.03	0.80722	D	1	B;B;B;B	0.16802	0.0;0.019;0.0;0.0	B;B;B;B	0.18263	0.002;0.021;0.001;0.003	T	0.51694	-0.8673	10	0.02654	T	1	-12.3862	14.4299	0.67243	0.0:0.8517:0.1483:0.0	.	245;207;151;207	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	E	207;245;207;151	ENSP00000263331:Q207E;ENSP00000444136:Q245E;ENSP00000387143:Q207E;ENSP00000405358:Q151E	ENSP00000263331:Q207E	Q	+	1	0	POLR1B	113023441	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.126000	0.42026	2.576000	0.86940	0.655000	0.94253	CAG	POLR1B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2		0.318	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	C	NM_019014		113306970	+1	no_errors	ENST00000541869	ensembl	human	known	70_37	missense	SNP	1.000	G
POLR1D	51082	genome.wustl.edu	37	13	28196057	28196057	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:28196057C>T	ENST00000302979.3	+	0	959				POLR1D_ENST00000465887.1_3'UTR|POLR1D_ENST00000399697.3_5'UTR|LNX2_ENST00000316334.3_5'Flank|POLR1D_ENST00000399696.1_5'UTR	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTCCGCGCCTCGCGCTATGGG	0.697																																																	0													14.0	16.0	15.0					13																	28196057		692	1590	2282	SO:0001623	5_prime_UTR_variant	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.-64C>T	13.37:g.28196057C>T			Q5TBX2|Q96BR3	RNA	SNP	-	NULL	ENST00000302979.3	37	NULL	CCDS9325.1	13																																																																																			POLR1D	-	-		0.697	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	C	NM_015972, NM_152705		28196057	+1	no_errors	ENST00000465887	ensembl	human	known	70_37	rna	SNP	0.000	T
POLR2B	5431	genome.wustl.edu	37	4	57876625	57876625	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:57876625G>A	ENST00000381227.1	+	12	1916	c.1503G>A	c.(1501-1503)ttG>ttA	p.L501L	POLR2B_ENST00000441246.2_Silent_p.L494L|POLR2B_ENST00000431623.2_Silent_p.L426L|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.L501L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	501					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CAAGACAGTTGCATAATACGT	0.443																																																	0													123.0	123.0	123.0					4																	57876625		2203	4300	6503	SO:0001819	synonymous_variant	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1503G>A	4.37:g.57876625G>A			A8K1A8|Q8IZ61	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L501	ENST00000381227.1	37	c.1503	CCDS3511.1	4																																																																																			POLR2B	-	pfam_RNA_pol_Rpb2_3		0.443	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	G	NM_000938		57876625	+1	no_errors	ENST00000314595	ensembl	human	known	70_37	silent	SNP	1.000	A
POLR3C	10623	genome.wustl.edu	37	1	145606277	145606277	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:145606277C>G	ENST00000334163.3	-	5	836	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.E226Q	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	226				KRPKYTTDNKEPIPDDGIYWQA -> RDQNILQITRXPFQM MGFIGRP (in Ref. 1; AAB63675). {ECO:0000305}.	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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCCATTACCTCCTTGTTATCT	0.468																																																	0													150.0	128.0	135.0					1																	145606277		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.676G>C	1.37:g.145606277C>G	ENSP00000334564:p.Glu226Gln		O15317|Q9Y3R6	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.E226Q	ENST00000334163.3	37	c.676	CCDS921.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009142	0.75046	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	RNA polymerase III Rpc82, C -terminal (1);	0.315067	0.31071	N	0.008315	T	0.41026	0.1141	L	0.48642	1.525	0.42362	D	0.992418	D;B;B	0.65815	0.995;0.053;0.046	P;B;B	0.58820	0.846;0.03;0.014	T	0.06643	-1.0815	10	0.18710	T	0.47	-14.6399	15.6971	0.77509	0.0:1.0:0.0:0.0	.	226;226;226	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	226	ENSP00000334564:E226Q;ENSP00000358300:E226Q	ENSP00000334564:E226Q	E	-	1	0	POLR3C	144317634	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.254000	0.58798	2.776000	0.95493	0.585000	0.79938	GAG	POLR3C	-	pfam_RNA_pol_III_Rpc82_C		0.468	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	C	NM_006468		145606277	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	missense	SNP	1.000	G
POT1	25913	genome.wustl.edu	37	7	124493039	124493039	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:124493039C>T	ENST00000357628.3	-	10	1454	c.856G>A	c.(856-858)Gat>Aat	p.D286N	POT1_ENST00000393329.1_Missense_Mutation_p.D155N	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	286					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTCAGTTGATCCACATCAGAG	0.368																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													101.0	98.0	99.0					7																	124493039		2203	4300	6503	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.856G>A	7.37:g.124493039C>T	ENSP00000350249:p.Asp286Asn		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.D286N	ENST00000357628.3	37	c.856	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676253	0.29783	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.44881	0.91;0.92	6.07	4.28	0.50868	Nucleic acid-binding, OB-fold-like (1);	0.406792	0.29451	N	0.012114	T	0.35595	0.0937	M	0.68317	2.08	0.33177	D	0.54902	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.21540	T	0.41	1.0807	5.7877	0.18343	0.0:0.6749:0.1605:0.1645	.	286	Q9NUX5	POTE1_HUMAN	N	286;155;286;286;286;285	ENSP00000350249:D286N;ENSP00000377002:D155N	ENSP00000265391:D285N	D	-	1	0	POT1	124280275	0.981000	0.34729	0.992000	0.48379	0.770000	0.43624	0.756000	0.26419	1.583000	0.49898	0.655000	0.94253	GAT	POT1	-	superfamily_NA-bd_OB-fold-like		0.368	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	C			124493039	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	0.985	T
POTEG	404785	genome.wustl.edu	37	14	19553485	19553485	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:19553485G>C	ENST00000409832.3	+	1	121	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	23										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGAAGCAAGATGGGCAAGT	0.582																																																	0													3.0	4.0	4.0					14																	19553485		858	2010	2868	SO:0001583	missense	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.69G>C	14.37:g.19553485G>C	ENSP00000386971:p.Lys23Asn		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K23N	ENST00000409832.3	37	c.69	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	9.186	1.024860	0.19433	.	.	ENSG00000222036	ENST00000409832	T	0.46819	0.86	.	.	.	.	.	.	.	.	T	0.50786	0.1636	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.36553	-0.9743	7	0.87932	D	0	.	.	.	.	.	23	Q6S5H5	POTEG_HUMAN	N	23	ENSP00000386971:K23N	ENSP00000386971:K23N	K	+	3	2	POTEG	18623485	0.005000	0.15991	0.007000	0.13788	0.006000	0.05464	0.582000	0.23834	0.459000	0.27016	0.152000	0.16155	AAG	POTEG	-	NULL		0.582	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	G	NM_001005356		19553485	+1	no_errors	ENST00000409832	ensembl	human	known	70_37	missense	SNP	0.009	C
PPP1R3F	89801	genome.wustl.edu	37	X	49142903	49142903	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49142903C>G	ENST00000055335.6	+	4	1767	c.1751C>G	c.(1750-1752)tCt>tGt	p.S584C	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S255C|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S238C|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S238C|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S238C	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	584					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGGGCTCTCTGTCACACCC	0.622																																																	0													31.0	28.0	29.0					X																	49142903		2202	4300	6502	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1751C>G	X.37:g.49142903C>G	ENSP00000055335:p.Ser584Cys		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S584C	ENST00000055335.6	37	c.1751	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674607	0.14841	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60171	0.63;0.63;0.21;0.63;0.63	4.73	3.86	0.44501	.	0.565402	0.16494	N	0.211979	T	0.55433	0.1920	L	0.29908	0.895	0.09310	N	1	D;D;D	0.69078	0.982;0.969;0.997	P;P;P	0.56865	0.73;0.73;0.808	T	0.46020	-0.9221	10	0.87932	D	0	-1.9355	6.961	0.24597	0.0:0.8776:0.0:0.1224	.	255;269;584	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	C	238;255;584;238;238	ENSP00000420687:S238C;ENSP00000415548:S255C;ENSP00000055335:S584C;ENSP00000417535:S238C;ENSP00000365359:S238C	ENSP00000055335:S584C	S	+	2	0	PPP1R3F	49029847	0.377000	0.25106	0.111000	0.21465	0.052000	0.14988	1.805000	0.38883	2.321000	0.78463	0.513000	0.50165	TCT	PPP1R3F	-	NULL		0.622	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	C	NM_033215		49142903	+1	no_errors	ENST00000055335	ensembl	human	known	70_37	missense	SNP	0.004	G
PPP1R9A	55607	genome.wustl.edu	37	7	94540329	94540329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:94540329G>T	ENST00000433881.1	+	2	1436	c.904G>T	c.(904-906)Gaa>Taa	p.E302*	PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E302*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E302*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	302					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGAGCAAGGAACCCGAGGA	0.478										HNSCC(28;0.073)																																							0													52.0	48.0	49.0					7																	94540329		2203	4300	6503	SO:0001587	stop_gained	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.904G>T	7.37:g.94540329G>T	ENSP00000398870:p.Glu302*		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E302*	ENST00000433881.1	37	c.904	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146453	0.77888	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.73	5.73	0.89815	.	0.612269	0.17048	N	0.189025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.655	0.45669	0.142:0.0:0.858:0.0	.	.	.	.	X	302	.	.	E	+	1	0	PPP1R9A	94378265	0.898000	0.30612	1.000000	0.80357	0.018000	0.09664	3.279000	0.51670	2.879000	0.98667	0.650000	0.86243	GAA	PPP1R9A	-	NULL		0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	G	NM_001166160		94540329	+1	no_errors	ENST00000289495	ensembl	human	known	70_37	nonsense	SNP	0.973	T
PPP2R2C	5522	genome.wustl.edu	37	4	6331054	6331054	+	Silent	SNP	G	G	C	rs76426507		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:6331054G>C	ENST00000382599.4	-	8	1203	c.987C>G	c.(985-987)ctC>ctG	p.L329L	PPP2R2C_ENST00000515571.1_Silent_p.L312L|PPP2R2C_ENST00000335585.5_Silent_p.L329L|PPP2R2C_ENST00000507294.1_Silent_p.L322L|PPP2R2C_ENST00000506140.1_Silent_p.L322L			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	329					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACAGGGAACAGAGCTTGCTCC	0.577																																																	0													197.0	153.0	168.0					4																	6331054		2203	4300	6503	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.987C>G	4.37:g.6331054G>C			A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L329	ENST00000382599.4	37	c.987		4																																																																																			PPP2R2C	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	PPP2R2C	HGNC	protein_coding	OTTHUMT00000206889.2	G	NM_181876		6331054	-1	no_errors	ENST00000335585	ensembl	human	known	70_37	silent	SNP	0.997	C
PPP4R4	57718	genome.wustl.edu	37	14	94696987	94696987	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94696987C>G	ENST00000304338.3	+	4	512	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	120					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCTGACCATTCTGCAGGACGA	0.473																																																	0													124.0	104.0	111.0					14																	94696987		2203	4300	6503	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.358C>G	14.37:g.94696987C>G	ENSP00000305924:p.Leu120Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L120V	ENST00000304338.3	37	c.358	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257402	0.59321	.	.	ENSG00000119698	ENST00000304338;ENST00000553661;ENST00000556470	T;T	0.34859	1.37;1.34	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.77103	2.36	0.80722	D	1	D	0.54964	0.969	P	0.51487	0.671	T	0.47484	-0.9114	10	0.33940	T	0.23	-8.4501	12.8424	0.57811	0.0:0.925:0.0:0.075	.	120	Q6NUP7	PP4R4_HUMAN	V	120;39;39	ENSP00000305924:L120V;ENSP00000451556:L39V	ENSP00000305924:L120V	L	+	1	2	PPP4R4	93766740	0.999000	0.42202	0.543000	0.28128	0.474000	0.32979	3.533000	0.53561	2.611000	0.88343	0.585000	0.79938	CTG	PPP4R4	-	superfamily_ARM-type_fold		0.473	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	C	NM_058237		94696987	+1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	0.947	G
PPRC1	23082	genome.wustl.edu	37	10	103901643	103901643	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:103901643G>C	ENST00000278070.2	+	5	3417	c.3378G>C	c.(3376-3378)caG>caC	p.Q1126H	PPRC1_ENST00000370012.1_Missense_Mutation_p.Q93H|PPRC1_ENST00000413464.2_Missense_Mutation_p.Q1126H|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1126	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCAAGGCAGAGCACTGTCC	0.602																																																	0													57.0	54.0	55.0					10																	103901643		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3378G>C	10.37:g.103901643G>C	ENSP00000278070:p.Gln1126His		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q1126H	ENST00000278070.2	37	c.3378	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789332	0.16258	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.32515	1.82;1.82;1.45	6.04	4.16	0.48862	.	0.199249	0.36101	N	0.002791	T	0.22126	0.0533	L	0.29908	0.895	0.23975	N	0.996293	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.16289	0.007;0.015;0.007	T	0.17961	-1.0352	10	0.56958	D	0.05	.	9.333	0.38034	0.0761:0.3386:0.5853:0.0	.	1126;1006;1126	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	H	1126;1126;93	ENSP00000278070:Q1126H;ENSP00000399743:Q1126H;ENSP00000359029:Q93H	ENSP00000278070:Q1126H	Q	+	3	2	PPRC1	103891633	0.896000	0.30565	0.984000	0.44739	0.138000	0.21146	1.713000	0.37951	0.853000	0.35312	0.563000	0.77884	CAG	PPRC1	-	NULL		0.602	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	G	NM_015062		103901643	+1	no_errors	ENST00000278070	ensembl	human	known	70_37	missense	SNP	0.880	C
PPT2	9374	genome.wustl.edu	37	6	32122483	32122483	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:32122483C>T	ENST00000324816.6	+	2	680	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.P38S|PPT2_ENST00000445576.2_Missense_Mutation_p.P38S|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000375143.2_Missense_Mutation_p.P38S|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.P38S|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.P44S|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.P38S			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	38					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTCCTACAAGCCGGTCATCGT	0.672																																																	0													57.0	62.0	60.0					6																	32122483		1509	2707	4216	SO:0001583	missense	9374			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.112C>T	6.37:g.32122483C>T	ENSP00000320528:p.Pro38Ser		A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.P44S	ENST00000324816.6	37	c.130	CCDS4742.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.255347	0.95336	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656	D;D;D;D;D;D;D;D;T	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;0.28	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.981;0.985;0.989	D	0.99474	1.0946	10	0.72032	D	0.01	-2.2787	15.0206	0.71627	0.0:1.0:0.0:0.0	.	38;38;44	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	S	38;44;38;38;38;38;38;38;38;38	ENSP00000398847:P38S;ENSP00000354608:P44S;ENSP00000378894:P38S;ENSP00000412381:P38S;ENSP00000320528:P38S;ENSP00000364279:P38S;ENSP00000364285:P38S;ENSP00000409877:P38S;ENSP00000395456:P38S	ENSP00000320528:P38S	P	+	1	0	PPT2	32230461	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.321000	0.72881	2.384000	0.81235	0.484000	0.47621	CCG	PPT2	-	pfam_Palm_thioest		0.672	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4	C	NM_138717		32122483	+1	no_errors	ENST00000361568	ensembl	human	known	70_37	missense	SNP	1.000	T
PQBP1	10084	genome.wustl.edu	37	X	48755725	48755725	+	5'UTR	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48755725G>T	ENST00000218224.4	+	0	187				TIMM17B_ENST00000472645.1_5'Flank|PQBP1_ENST00000376566.4_Intron|TIMM17B_ENST00000495490.2_5'Flank|TIMM17B_ENST00000396779.3_5'Flank|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000396763.1_Intron|TIMM17B_ENST00000376582.3_5'Flank|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376548.5_Intron|PQBP1_ENST00000447146.2_Intron|PQBP1_ENST00000376563.1_Intron|TIMM17B_ENST00000465150.2_5'Flank	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACGGGATCCAGATAGGAATCT	0.507																																																	0																																										SO:0001623	5_prime_UTR_variant	10084			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000218224.4:c.-68G>T	X.37:g.48755725G>T			Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	RNA	SNP	-	NULL	ENST00000218224.4	37	NULL	CCDS14309.1	X																																																																																			PQBP1	-	-		0.507	PQBP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding		G	NM_001032381.1		48755725	+1	no_errors	ENST00000473764	ensembl	human	known	70_37	rna	SNP	0.001	T
PRAMEF11	440560	genome.wustl.edu	37	1	12884934	12884934	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12884934G>C	ENST00000535591.1	-	4	1372	c.1177C>G	c.(1177-1179)Caa>Gaa	p.Q393E	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	393					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCCTAATTTGAGCAAATCTG	0.493																																																	0													68.0	55.0	59.0					1																	12884934		692	1590	2282	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1177C>G	1.37:g.12884934G>C	ENSP00000439551:p.Gln393Glu			Missense_Mutation	SNP	NULL	p.Q393E	ENST00000535591.1	37	c.1177	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	2.456	-0.325226	0.05350	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.54071	0.59;0.59	1.76	-0.477	0.12097	.	1.896610	0.03048	N	0.154147	T	0.42854	0.1221	L	0.46614	1.455	0.09310	N	1	B	0.29162	0.235	B	0.27380	0.079	T	0.12016	-1.0564	10	0.32370	T	0.25	.	3.1983	0.06641	0.2017:0.3417:0.4567:0.0	.	393	O60813	PRA11_HUMAN	E	393;434;393	ENSP00000439551:Q393E;ENSP00000391839:Q393E	ENSP00000328783:Q434E	Q	-	1	0	PRAMEF11	12807521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.221000	0.09202	-0.128000	0.11641	0.407000	0.27541	CAA	PRAMEF11	-	NULL		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12884934	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	C
PRAMEF11	440560	genome.wustl.edu	37	1	12885022	12885022	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12885022G>C	ENST00000535591.1	-	4	1284	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	363					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTTTGAGTATGATTGTGTGGC	0.527																																																	0													53.0	45.0	47.0					1																	12885022		692	1590	2282	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1089C>G	1.37:g.12885022G>C	ENSP00000439551:p.Ile363Met			Missense_Mutation	SNP	NULL	p.I363M	ENST00000535591.1	37	c.1089	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	8.732	0.916872	0.17907	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.09350	2.99;2.99	1.76	0.821	0.18799	.	3.011770	0.01382	N	0.012969	T	0.16257	0.0391	L	0.44542	1.39	0.09310	N	1	D	0.59357	0.985	P	0.51516	0.672	T	0.10154	-1.0642	10	0.46703	T	0.11	.	4.1204	0.10103	0.2205:0.0:0.7795:0.0	.	363	O60813	PRA11_HUMAN	M	363;404;363	ENSP00000439551:I363M;ENSP00000391839:I363M	ENSP00000328783:I404M	I	-	3	3	PRAMEF11	12807609	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.047000	0.03521	0.286000	0.22352	0.407000	0.27541	ATC	PRAMEF11	-	NULL		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12885022	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	C
PRAMEF11	440560	genome.wustl.edu	37	1	12885048	12885048	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12885048G>C	ENST00000535591.1	-	4	1258	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	355					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGTTCTCCAGGGTGGCCATG	0.532																																																	0													35.0	30.0	31.0					1																	12885048		692	1589	2281	SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1063C>G	1.37:g.12885048G>C	ENSP00000439551:p.Leu355Val			Missense_Mutation	SNP	NULL	p.L355V	ENST00000535591.1	37	c.1063	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.330153	0.24167	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.13089	2.62;2.62	1.52	0.401	0.16338	.	0.356685	0.25487	N	0.030334	T	0.32585	0.0834	M	0.85777	2.775	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.06373	-1.0830	10	0.59425	D	0.04	.	4.8835	0.13692	0.0:0.0:0.5533:0.4467	.	355	O60813	PRA11_HUMAN	V	355;396;355	ENSP00000439551:L355V;ENSP00000391839:L355V	ENSP00000328783:L396V	L	-	1	2	PRAMEF11	12807635	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.030000	0.13688	0.102000	0.17638	0.407000	0.27541	CTG	PRAMEF11	-	NULL		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12885048	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.002	C
PRAMEF2	65122	genome.wustl.edu	37	1	12921378	12921378	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12921378C>T	ENST00000240189.2	+	4	1256	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCATGTCTATTGACGCC	0.562																																																	0													107.0	109.0	108.0					1																	12921378		2202	4294	6496	SO:0001583	missense	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1169C>T	1.37:g.12921378C>T	ENSP00000240189:p.Ser390Phe			Missense_Mutation	SNP	NULL	p.S390F	ENST00000240189.2	37	c.1169	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338372	0.24253	.	.	ENSG00000120952	ENST00000240189	T	0.10288	2.89	0.824	0.824	0.18818	.	0.067349	0.64402	D	0.000012	T	0.32645	0.0836	M	0.91196	3.185	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04281	-1.0963	10	0.87932	D	0	.	5.0044	0.14280	0.0:1.0:0.0:0.0	.	390	O60811	PRAM2_HUMAN	F	390	ENSP00000240189:S390F	ENSP00000240189:S390F	S	+	2	0	PRAMEF2	12843965	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.581000	0.23819	0.748000	0.32831	0.173000	0.16961	TCT	PRAMEF2	-	NULL		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12921378	+1	no_errors	ENST00000240189	ensembl	human	known	70_37	missense	SNP	0.003	T
PRAMEF13	400736	genome.wustl.edu	37	1	13448422	13448422	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:13448422G>C	ENST00000376132.3	-	4	1155	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGTTTCGAGAGAGGCAG	0.547																																																	0													9.0	9.0	9.0					1																	13448422		2015	4148	6163	SO:0001819	synonymous_variant	729528					1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1053C>G	1.37:g.13448422G>C				Silent	SNP	NULL	p.L351	ENST00000376132.3	37	c.1053	CCDS41257.1	1																																																																																			PRAMEF13	-	NULL		0.547	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	PRAMEF13	HGNC	protein_coding	OTTHUMT00000022040.1	G	XM_375688		13448422	-1	no_errors	ENST00000376132	ensembl	human	known	70_37	silent	SNP	0.002	C
PRELID2	153768	genome.wustl.edu	37	5	145198965	145198965	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:145198965G>C	ENST00000334744.4	-	4	272	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	PRELID2_ENST00000358004.2_Intron|PRELID2_ENST00000511435.1_Intron|PRELID2_ENST00000505416.1_Intron|PRELID2_ENST00000394450.2_Intron	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	74	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAATCACCAGAGTGCTTAAG	0.353																																																	0													89.0	87.0	88.0					5																	145198965		2202	4300	6502	SO:0001583	missense	153768			AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.220C>G	5.37:g.145198965G>C	ENSP00000335675:p.Leu74Val		G5EA01|Q96EQ3	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	p.L74V	ENST00000334744.4	37	c.220	CCDS34262.1	5	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970480	0.34754	.	.	ENSG00000186314	ENST00000334744	T	0.16897	2.31	5.43	4.54	0.55810	PRELI/MSF1 (2);	0.000000	0.42682	D	0.000672	T	0.12390	0.0301	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.30251	0.113	T	0.11665	-1.0578	10	0.26408	T	0.33	-51.3277	10.6446	0.45613	0.0932:0.0:0.9068:0.0	.	74	Q8N945	PRLD2_HUMAN	V	74	ENSP00000335675:L74V	ENSP00000335675:L74V	L	-	1	2	PRELID2	145179158	0.997000	0.39634	0.997000	0.53966	0.662000	0.39071	2.822000	0.48073	2.708000	0.92522	0.563000	0.77884	CTG	PRELID2	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.353	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRELID2	HGNC	protein_coding	OTTHUMT00000372970.1	G	NM_182960		145198965	-1	no_errors	ENST00000334744	ensembl	human	known	70_37	missense	SNP	0.973	C
PRKCH	5583	genome.wustl.edu	37	14	62017244	62017244	+	3'UTR	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:62017244C>A	ENST00000332981.5	+	0	3132				PRKCH_ENST00000555082.1_3'UTR|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta						blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGTTTGCATTCATGAAGCTTT	0.373																																					Melanoma(135;863 1779 8064 14443 26348)												0																																										SO:0001624	3_prime_UTR_variant	5583			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.*695C>A	14.37:g.62017244C>A			B4DJN5|Q16246|Q8NE03	RNA	SNP	-	NULL	ENST00000332981.5	37	NULL	CCDS9752.1	14																																																																																			PRKCH	-	-		0.373	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	C	NM_006255		62017244	+1	no_errors	ENST00000556245	ensembl	human	known	70_37	rna	SNP	0.001	A
PRKDC	5591	genome.wustl.edu	37	8	48794620	48794620	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:48794620G>A	ENST00000314191.2	-	38	4868	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	PRKDC_ENST00000338368.3_Silent_p.F1604F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1605					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTCGCTCCCTGAAGCTCTGGT	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													139.0	131.0	134.0					8																	48794620		1905	4131	6036	SO:0001819	synonymous_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4812C>T	8.37:g.48794620G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,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.F1604	ENST00000314191.2	37	c.4812		8																																																																																			PRKDC	-	superfamily_ARM-type_fold		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48794620	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	silent	SNP	0.997	A
PRLH	51052	genome.wustl.edu	37	2	238475280	238475280	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:238475280G>A	ENST00000165524.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	22					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		GCGGGGAGCTGCAAGTCGTAC	0.667																																																	0													45.0	37.0	39.0					2																	238475280		2198	4294	6492	SO:0001583	missense	51052			AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"""Endogenous ligands"""	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.64G>A	2.37:g.238475280G>A	ENSP00000165524:p.Ala22Thr			Missense_Mutation	SNP	NULL	p.A22T	ENST00000165524.1	37	c.64	CCDS2519.1	2	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.926804	0.00493	.	.	ENSG00000071677	ENST00000165524	.	.	.	3.99	0.569	0.17340	.	0.522925	0.14659	N	0.306053	T	0.14700	0.0355	.	.	.	0.09310	N	1	B	0.21753	0.06	B	0.17722	0.019	T	0.28681	-1.0036	8	0.09843	T	0.71	-18.135	4.2701	0.10782	0.2224:0.0:0.5979:0.1797	.	22	P81277	PRRP_HUMAN	T	22	.	ENSP00000165524:A22T	A	+	1	0	PRLH	238140019	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	0.191000	0.17076	0.007000	0.14760	0.552000	0.68991	GCA	PRLH	-	NULL		0.667	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLH	HGNC	protein_coding	OTTHUMT00000257081.1	G	NM_015893		238475280	+1	no_errors	ENST00000165524	ensembl	human	known	70_37	missense	SNP	0.001	A
PRMT5	10419	genome.wustl.edu	37	14	23392312	23392312	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:23392312G>A	ENST00000324366.8	-	13	1656	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.S372F|PRMT5_ENST00000397441.2_Missense_Mutation_p.S461F|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.S417F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.S307F|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.S434F	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	478	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GTACAGCTTGGAGGAAGAGAT	0.512																																																	0													62.0	54.0	57.0					14																	23392312		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1433C>T	14.37:g.23392312G>A	ENSP00000319169:p.Ser478Phe		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.S478F	ENST00000324366.8	37	c.1433	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906367	0.92107	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.89601	3.045	0.80722	D	1	D;P;D;D;D	0.62365	0.981;0.939;0.967;0.991;0.966	P;P;P;P;P	0.61201	0.783;0.733;0.885;0.87;0.805	T	0.60637	-0.7224	10	0.62326	D	0.03	-16.5383	18.837	0.92167	0.0:0.0:1.0:0.0	.	434;417;307;478;461	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	F	478;461;307;417;77;372;434	ENSP00000319169:S478F;ENSP00000380583:S461F;ENSP00000380582:S307F;ENSP00000216350:S417F;ENSP00000451245:S77F;ENSP00000444915:S372F;ENSP00000452555:S434F	ENSP00000216350:S417F	S	-	2	0	PRMT5	22462152	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.860000	0.92272	2.826000	0.97356	0.561000	0.74099	TCC	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.512	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23392312	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	missense	SNP	1.000	A
PRODH2	58510	genome.wustl.edu	37	19	36303700	36303700	+	Missense_Mutation	SNP	C	C	T	rs370209287		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:36303700C>T	ENST00000301175.3	-	2	253	c.236G>A	c.(235-237)cGg>cAg	p.R79Q		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	79					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTAACAGGTCCGGAGCATCCT	0.632																																																	0								C	GLN/ARG	0,4406		0,0,2203	40.0	38.0	38.0		236	-3.1	0.0	19		38	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRODH2	NM_021232.1	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	79/537	36303700	1,13003	2203	4299	6502	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.236G>A	19.37:g.36303700C>T	ENSP00000301175:p.Arg79Gln			Missense_Mutation	SNP	pfam_Proline_DH	p.R79Q	ENST00000301175.3	37	c.236	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502756	0.26949	0.0	1.16E-4	ENSG00000250799	ENST00000301175	T	0.26660	1.72	4.77	-3.1	0.05315	.	.	.	.	.	T	0.10294	0.0252	N	0.12746	0.255	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.37957	-0.9683	9	0.13470	T	0.59	.	5.4132	0.16360	0.0:0.4445:0.2481:0.3075	.	79	Q9UF12	PROD2_HUMAN	Q	79	ENSP00000301175:R79Q	ENSP00000301175:R79Q	R	-	2	0	PRODH2	40995540	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.114000	0.15520	-0.466000	0.06943	-0.216000	0.12614	CGG	PRODH2	-	NULL		0.632	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	C	NM_021232		36303700	-1	no_errors	ENST00000301175	ensembl	human	known	70_37	missense	SNP	0.000	T
PROM1	8842	genome.wustl.edu	37	4	15995622	15995622	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:15995622G>C	ENST00000510224.1	-	16	2003	c.1755C>G	c.(1753-1755)ctC>ctG	p.L585L	PROM1_ENST00000540805.1_Silent_p.L585L|PROM1_ENST00000539194.1_Silent_p.L585L|PROM1_ENST00000543373.1_Silent_p.L576L|PROM1_ENST00000505450.1_Silent_p.L576L|PROM1_ENST00000447510.2_Silent_p.L585L|PROM1_ENST00000508167.1_Silent_p.L576L			O43490	PROM1_HUMAN	prominin 1	585					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CATTAATGTTGAGATGTTCAC	0.383																																																	0													219.0	216.0	217.0					4																	15995622		1909	4130	6039	SO:0001819	synonymous_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1755C>G	4.37:g.15995622G>C			Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	pfam_Prominin	p.L585	ENST00000510224.1	37	c.1755	CCDS47029.1	4																																																																																			PROM1	-	pfam_Prominin		0.383	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	G	NM_006017		15995622	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	silent	SNP	0.974	C
PROM1	8842	genome.wustl.edu	37	4	16025931	16025931	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:16025931G>C	ENST00000510224.1	-	7	929	c.681C>G	c.(679-681)ttC>ttG	p.F227L	PROM1_ENST00000540805.1_Missense_Mutation_p.F227L|PROM1_ENST00000539194.1_Missense_Mutation_p.F227L|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Missense_Mutation_p.F218L|PROM1_ENST00000505450.1_Missense_Mutation_p.F218L|PROM1_ENST00000447510.2_Missense_Mutation_p.F227L|PROM1_ENST00000508167.1_Missense_Mutation_p.F218L			O43490	PROM1_HUMAN	prominin 1	227					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCAGATCTGTGAACGCCTTGT	0.373																																																	0													130.0	120.0	123.0					4																	16025931		1842	4097	5939	SO:0001583	missense	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.681C>G	4.37:g.16025931G>C	ENSP00000426809:p.Phe227Leu		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.F227L	ENST00000510224.1	37	c.681	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	G	0.514	-0.865308	0.02590	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	4.74	-4.59	0.03400	.	0.478039	0.21740	N	0.069839	T	0.28101	0.0693	L	0.33093	0.98	0.09310	N	1	B;B;B;B;D;B	0.61697	0.013;0.013;0.006;0.013;0.99;0.004	B;B;B;B;P;B	0.54060	0.043;0.043;0.043;0.043;0.741;0.023	T	0.39187	-0.9626	10	0.13108	T	0.6	-0.6349	1.3132	0.02102	0.355:0.086:0.2797:0.2792	.	218;227;218;227;218;227	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	L	227;227;227;218;218;227;218	ENSP00000415481:F227L;ENSP00000438045:F227L;ENSP00000443620:F227L;ENSP00000426090:F218L;ENSP00000427346:F218L;ENSP00000426809:F227L;ENSP00000445526:F218L	ENSP00000415481:F227L	F	-	3	2	PROM1	15635029	0.135000	0.22499	0.000000	0.03702	0.068000	0.16541	-0.074000	0.11450	-0.677000	0.05231	0.561000	0.74099	TTC	PROM1	-	pfam_Prominin		0.373	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	G	NM_006017		16025931	-1	no_errors	ENST00000447510	ensembl	human	known	70_37	missense	SNP	0.000	C
PROM2	150696	genome.wustl.edu	37	2	95940418	95940418	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:95940418G>C	ENST00000317620.9	+	1	218	c.85G>C	c.(85-87)Gac>Cac	p.D29H	PROM2_ENST00000403131.2_Missense_Mutation_p.D29H|PROM2_ENST00000542147.1_Missense_Mutation_p.D29H|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Missense_Mutation_p.D29H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	29					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGGCCACAGACTGCAAGTT	0.672																																																	0													40.0	48.0	45.0					2																	95940418		2203	4299	6502	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.85G>C	2.37:g.95940418G>C	ENSP00000318270:p.Asp29His		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.D29H	ENST00000317620.9	37	c.85	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749295	0.30955	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.12	4.14	0.48551	.	0.266322	0.26923	N	0.021818	T	0.46580	0.1400	N	0.22421	0.69	0.22366	N	0.999163	D	0.56968	0.978	P	0.59221	0.854	T	0.27123	-1.0083	10	0.29301	T	0.29	-23.8185	11.5426	0.50675	0.0:0.0:0.8091:0.1909	.	29	Q8N271	PROM2_HUMAN	H	29	ENSP00000385716:D29H;ENSP00000318520:D29H;ENSP00000318270:D29H;ENSP00000442542:D29H	ENSP00000318270:D29H	D	+	1	0	PROM2	95304145	0.710000	0.27896	0.681000	0.30009	0.018000	0.09664	2.611000	0.46334	2.405000	0.81733	0.491000	0.48974	GAC	PROM2	-	pfam_Prominin		0.672	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	G	NM_144707		95940418	+1	no_errors	ENST00000317620	ensembl	human	known	70_37	missense	SNP	0.416	C
PRR14L	253143	genome.wustl.edu	37	22	32111360	32111360	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111360G>C	ENST00000327423.6	-	4	2654	c.2465C>G	c.(2464-2466)aCa>aGa	p.T822R	PRR14L_ENST00000397493.2_Missense_Mutation_p.T822R|PRR14L_ENST00000434485.1_Missense_Mutation_p.T822R|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	822										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TTCATATTTTGTTATCAAAGA	0.408																																																	0													100.0	74.0	82.0					22																	32111360		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2465C>G	22.37:g.32111360G>C	ENSP00000331845:p.Thr822Arg		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.T822R	ENST00000327423.6	37	c.2465	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219007	0.39201	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06142	3.34;3.35;3.34	5.46	-4.21	0.03812	.	0.909847	0.09290	N	0.822471	T	0.04907	0.0132	L	0.53249	1.67	0.09310	N	1	B;B;B	0.19583	0.017;0.037;0.017	B;B;B	0.17433	0.018;0.018;0.018	T	0.46624	-0.9178	9	.	.	.	-0.045	0.3385	0.00329	0.2392:0.2376:0.1615:0.3617	.	822;822;822	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	R	822	ENSP00000380630:T822R;ENSP00000331845:T822R;ENSP00000388314:T822R	.	T	-	2	0	PRR14L	30441360	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.066000	0.14489	-0.225000	0.09913	-0.188000	0.12872	ACA	PRR14L	-	NULL		0.408	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111360	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.000	C
PRR14L	253143	genome.wustl.edu	37	22	32111816	32111816	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111816G>C	ENST00000327423.6	-	4	2198	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	PRR14L_ENST00000397493.2_Missense_Mutation_p.S670C|PRR14L_ENST00000434485.1_Missense_Mutation_p.S670C|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	670										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATGCAGTAGAGAGTCAGTTGG	0.403																																																	0													190.0	154.0	165.0					22																	32111816		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2009C>G	22.37:g.32111816G>C	ENSP00000331845:p.Ser670Cys		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.S670C	ENST00000327423.6	37	c.2009	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	5.911	0.352159	0.11182	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09073	3.02;3.04;3.03	4.13	1.8	0.24995	.	0.339302	0.21254	N	0.077592	T	0.05502	0.0145	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26845	0.161;0.073;0.073	B;B;B	0.26770	0.043;0.043;0.073	T	0.38802	-0.9644	9	.	.	.	-0.1856	4.1352	0.10167	0.2391:0.191:0.5699:0.0	.	670;670;670	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	C	670	ENSP00000380630:S670C;ENSP00000331845:S670C;ENSP00000388314:S670C	.	S	-	2	0	PRR14L	30441816	0.001000	0.12720	0.008000	0.14137	0.019000	0.09904	0.544000	0.23253	0.213000	0.20722	-0.345000	0.07892	TCT	PRR14L	-	NULL		0.403	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111816	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.006	C
PRR14L	253143	genome.wustl.edu	37	22	32111844	32111844	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:32111844G>C	ENST00000327423.6	-	4	2170	c.1981C>G	c.(1981-1983)Caa>Gaa	p.Q661E	PRR14L_ENST00000397493.2_Missense_Mutation_p.Q661E|PRR14L_ENST00000434485.1_Missense_Mutation_p.Q661E|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	661										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GCATGTTCTTGAGAATTAAGG	0.393																																																	0													204.0	166.0	178.0					22																	32111844		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1981C>G	22.37:g.32111844G>C	ENSP00000331845:p.Gln661Glu		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.Q661E	ENST00000327423.6	37	c.1981	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	4.864	0.160531	0.09287	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.05996	3.36;3.37;3.36	5.4	0.609	0.17575	.	1.648270	0.03126	N	0.164574	T	0.05914	0.0154	N	0.21448	0.665	0.18873	N	0.999987	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.12156	0.007;0.007;0.007	T	0.42015	-0.9476	9	.	.	.	3.0739	9.8229	0.40894	0.077:0.3951:0.5279:0.0	.	661;661;661	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	E	661	ENSP00000380630:Q661E;ENSP00000331845:Q661E;ENSP00000388314:Q661E	.	Q	-	1	0	PRR14L	30441844	0.688000	0.27680	0.692000	0.30179	0.390000	0.30446	0.360000	0.20250	0.290000	0.22444	0.655000	0.94253	CAA	PRR14L	-	NULL		0.393	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	G	NM_173566		32111844	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.320	C
PRRC2A	7916	genome.wustl.edu	37	6	31600440	31600440	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31600440C>T	ENST00000376033.2	+	16	4224	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	PRRC2A_ENST00000376007.4_Silent_p.F1330F	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1330	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAGTGACTTCACCAGTGAGC	0.602																																																	0													73.0	76.0	75.0					6																	31600440		1509	2709	4218	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3990C>T	6.37:g.31600440C>T			B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	pfam_BAT2_N	p.F1330	ENST00000376033.2	37	c.3990	CCDS4708.1	6																																																																																			PRRC2A	-	NULL		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	C	NM_080686		31600440	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	silent	SNP	1.000	T
PRRT2	112476	genome.wustl.edu	37	16	29824354	29824354	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:29824354C>G	ENST00000358758.7	+	0	262				AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567659.1_5'UTR|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_5'UTR	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2						neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CATAGGGGCTCTCTCCCCTCT	0.602																																																	0													41.0	44.0	43.0					16																	29824354		2197	4300	6497	SO:0001623	5_prime_UTR_variant	112476			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.-22C>G	16.37:g.29824354C>G			A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	RNA	SNP	-	NULL	ENST00000358758.7	37	NULL	CCDS10654.1	16																																																																																			PRRT2	-	-		0.602	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	C	NM_145239		29824354	+1	no_errors	ENST00000567551	ensembl	human	known	70_37	rna	SNP	0.998	G
PRSS12	8492	genome.wustl.edu	37	4	119204248	119204248	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:119204248C>T	ENST00000296498.3	-	12	2340	c.2058G>A	c.(2056-2058)agG>agA	p.R686R	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	686	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCATAGCTCCTAGTGCTGT	0.413																																																	0													123.0	127.0	126.0					4																	119204248		2203	4300	6503	SO:0001819	synonymous_variant	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2058G>A	4.37:g.119204248C>T			Q9UP16	Silent	SNP	pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A	p.R686	ENST00000296498.3	37	c.2058	CCDS3709.1	4																																																																																			PRSS12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.413	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	C			119204248	-1	no_errors	ENST00000296498	ensembl	human	known	70_37	silent	SNP	0.989	T
PRTFDC1	56952	genome.wustl.edu	37	10	25147323	25147323	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:25147323C>G	ENST00000320152.6	-	5	449	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.E141Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	141					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CAGCTTACCTCAACAATGAGA	0.333																																																	0													121.0	104.0	110.0					10																	25147323		2203	4300	6503	SO:0001583	missense	56952			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.421G>C	10.37:g.25147323C>G	ENSP00000318602:p.Glu141Gln		B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans	p.E141Q	ENST00000320152.6	37	c.421	CCDS7145.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032306	0.75504	.	.	ENSG00000099256	ENST00000320152;ENST00000376378	D;D	0.99436	-5.9;-5.9	5.67	4.78	0.61160	Phosphoribosyltransferase (1);	.	.	.	.	D	0.99658	0.9873	H	0.98612	4.28	0.80722	D	1	D;P	0.69078	0.997;0.911	P;P	0.59171	0.853;0.787	D	0.97510	1.0066	9	0.87932	D	0	.	13.7562	0.62937	0.0:0.9266:0.0:0.0734	.	141;141	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	141	ENSP00000318602:E141Q;ENSP00000365558:E141Q	ENSP00000318602:E141Q	E	-	1	0	PRTFDC1	25187329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.722000	0.54948	1.410000	0.46936	0.655000	0.94253	GAG	PRTFDC1	-	pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans		0.333	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTFDC1	HGNC	protein_coding	OTTHUMT00000047243.2	C	NM_020200		25147323	-1	no_errors	ENST00000320152	ensembl	human	known	70_37	missense	SNP	1.000	G
PSG8	440533	genome.wustl.edu	37	19	43257302	43257302	+	IGR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:43257302C>T	ENST00000306511.4	-	0	1441				PSG8_ENST00000406636.3_3'UTR|PSG8_ENST00000404209.4_3'UTR|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_3'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				aagtcatccacttgttgtcct	0.468																																																	0																																										SO:0001628	intergenic_variant	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118		19.37:g.43257302C>T			A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000306511.4	37	NULL	CCDS33037.1	19																																																																																			PSG8	-	-		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	C			43257302	-1	no_errors	ENST00000600709	ensembl	human	known	70_37	rna	SNP	0.048	T
PSG1	5669	genome.wustl.edu	37	19	43373185	43373185	+	Splice_Site	SNP	C	C	T	rs4030951		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:43373185C>T	ENST00000436291.2	-	4	827	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG1_ENST00000595356.1_Splice_Site_p.P237P|PSG1_ENST00000312439.6_Splice_Site_p.P237P|PSG1_ENST00000403380.3_Splice_Site_p.P144P|PSG1_ENST00000595124.1_Splice_Site_p.P144P|PSG1_ENST00000244296.2_Splice_Site_p.P237P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P237P(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.473													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20661	0.0		0.0	False		,,,				2504	0.0																3	Substitution - coding silent(3)	endometrium(3)											149.0	165.0	160.0					19																	43373185		1510	2707	4217	SO:0001630	splice_region_variant	5669				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.710-1G>A	19.37:g.43373185C>T			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P237	ENST00000436291.2	37	c.711	CCDS54275.1	19																																																																																			PSG1	-	NULL		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	C		Silent	43373185	-1	no_errors	ENST00000312439	ensembl	human	known	70_37	silent	SNP	0.431	T
PSME4	23198	genome.wustl.edu	37	2	54127099	54127099	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:54127099G>C	ENST00000404125.1	-	29	3396	c.3341C>G	c.(3340-3342)tCt>tGt	p.S1114C	PSME4_ENST00000421748.2_Missense_Mutation_p.S258C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1114					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)	p.S1114Y(1)|p.S1000Y(1)		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)			CTGGTTGATAGAGGGGTTTTT	0.358																																																	2	Substitution - Missense(2)	lung(2)											180.0	179.0	179.0					2																	54127099		2203	4300	6503	SO:0001583	missense	23198			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	ENST00000404125.1:c.3341C>G	2.37:g.54127099G>C	ENSP00000384211:p.Ser1114Cys		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.S1114C	ENST00000404125.1	37	c.3341	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939889	0.34189	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.25414	1.83;1.8	5.63	5.63	0.86233	Armadillo-type fold (1);	0.374712	0.30547	N	0.009385	T	0.14184	0.0343	N	0.08118	0	0.30433	N	0.777006	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.05321	-1.0892	10	0.51188	T	0.08	.	11.5311	0.50610	0.0:0.1329:0.7297:0.1374	.	489;258;1114	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	C	258;1114	ENSP00000410830:S258C;ENSP00000384211:S1114C	ENSP00000384211:S1114C	S	-	2	0	PSME4	53980603	0.981000	0.34729	0.992000	0.48379	0.938000	0.57974	3.018000	0.49625	2.669000	0.90835	0.655000	0.94253	TCT	PSME4	-	superfamily_ARM-type_fold		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	G	XM_040158		54127099	-1	no_errors	ENST00000404125	ensembl	human	known	70_37	missense	SNP	0.427	C
PSPC1	55269	genome.wustl.edu	37	13	20279828	20279828	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:20279828G>C	ENST00000338910.4	-	8	1519	c.1360C>G	c.(1360-1362)Cca>Gca	p.P454A		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	454	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGCATCATTGGAGTTCCCATA	0.413																																																	0													18.0	20.0	19.0					13																	20279828		1775	4016	5791	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1360C>G	13.37:g.20279828G>C	ENSP00000343966:p.Pro454Ala		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.P454A	ENST00000338910.4	37	c.1360	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473818	0.26423	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14022	2.54	5.17	3.4	0.38934	.	0.226542	0.45867	D	0.000328	T	0.07954	0.0199	N	0.14661	0.345	0.42251	D	0.991972	B	0.16603	0.018	B	0.14023	0.01	T	0.26018	-1.0115	10	0.27785	T	0.31	-1.8941	10.3209	0.43764	0.071:0.0:0.794:0.135	.	454	Q8WXF1	PSPC1_HUMAN	A	454;394	ENSP00000343966:P454A	ENSP00000343966:P454A	P	-	1	0	PSPC1	19177828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.726000	0.74758	0.656000	0.30886	0.491000	0.48974	CCA	PSPC1	-	NULL		0.413	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20279828	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	C
PTBP2	58155	genome.wustl.edu	37	1	97187332	97187332	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:97187332C>T	ENST00000426398.2	+	0	0				PTBP2_ENST00000370197.1_5'Flank|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_5'Flank|PTBP2_ENST00000394184.3_5'Flank|PTBP2_ENST00000609116.1_5'Flank|PTBP2_ENST00000541987.1_5'Flank	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CAATTTCCGTCGGGCCCCAGC	0.711																																																	0													50.0	48.0	49.0					1																	97187332		692	1591	2283	SO:0001631	upstream_gene_variant	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685		1.37:g.97187332C>T	Exception_encountered		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	RNA	SNP	-	NULL	ENST00000426398.2	37	NULL	CCDS754.1	1																																																																																			PTBP2	-	-		0.711	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	C			97187332	+1	no_errors	ENST00000482253	ensembl	human	known	70_37	rna	SNP	1.000	T
PTBP3	9991	genome.wustl.edu	37	9	114986244	114986244	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:114986244G>C	ENST00000374255.2	-	15	1693	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	PTBP3_ENST00000458258.1_Missense_Mutation_p.L522V|PTBP3_ENST00000343327.2_Missense_Mutation_p.L421V|PTBP3_ENST00000334318.6_Missense_Mutation_p.L519V|PTBP3_ENST00000374257.1_Missense_Mutation_p.L488V			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	516	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AATTGAATGAGCGCCATTTTG	0.403																																																	0													105.0	103.0	104.0					9																	114986244		2203	4300	6503	SO:0001583	missense	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1546C>G	9.37:g.114986244G>C	ENSP00000363373:p.Leu516Val		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L522V	ENST00000374255.2	37	c.1564	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708356	0.68615	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.42921	0.1224	M	0.89414	3.03	0.80722	D	1	P;D;D;D;D	0.58970	0.939;0.974;0.972;0.97;0.984	D;D;D;D;D	0.73708	0.935;0.935;0.981;0.935;0.978	T	0.43360	-0.9396	9	0.66056	D	0.02	-3.469	20.0522	0.97631	0.0:0.0:1.0:0.0	.	488;421;519;516;522	B1ALY5;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	V	488;519;522;516;421	ENSP00000363375:L488V;ENSP00000334499:L519V;ENSP00000414921:L522V;ENSP00000363373:L516V;ENSP00000340705:L421V	ENSP00000334499:L519V	L	-	1	0	ROD1	114026065	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	7.939000	0.87685	2.737000	0.93849	0.563000	0.77884	CTC	PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.403	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	G			114986244	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	missense	SNP	1.000	C
PTCHD4	442213	genome.wustl.edu	37	6	47846660	47846660	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:47846660G>A	ENST00000339488.4	-	3	1953	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	640						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGAACACGATGAATCGGATGC	0.488																																																	0													185.0	175.0	178.0					6																	47846660		2203	4300	6503	SO:0001819	synonymous_variant	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1920C>T	6.37:g.47846660G>A			B0QZ29|B4DRK3|Q5T884	Silent	SNP	pfam_Patched,pfscan_SSD	p.F640	ENST00000339488.4	37	c.1920	CCDS34473.2	6																																																																																			PTCHD4	-	pfam_Patched		0.488	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	G	NM_001013732		47846660	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	silent	SNP	1.000	A
PTGER3	5733	genome.wustl.edu	37	1	71512886	71512886	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:71512886C>T	ENST00000306666.5	-	1	585	c.375G>A	c.(373-375)ccG>ccA	p.P125P	PTGER3_ENST00000356595.4_Silent_p.P125P|PTGER3_ENST00000351052.5_Silent_p.P125P|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Silent_p.P125P|PTGER3_ENST00000460330.1_Silent_p.P125P|PTGER3_ENST00000354608.5_Silent_p.P125P|PTGER3_ENST00000370932.2_Silent_p.P125P|PTGER3_ENST00000370931.3_Silent_p.P125P|PTGER3_ENST00000370924.4_Silent_p.P125P	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	125					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCGCCCCGACGGGTCGATGT	0.657																																																	0													27.0	26.0	26.0					1																	71512886		2195	4296	6491	SO:0001819	synonymous_variant	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.375G>A	1.37:g.71512886C>T			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.P125	ENST00000306666.5	37	c.375	CCDS657.1	1																																																																																			PTGER3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt		0.657	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	C	NM_000957		71512886	-1	no_errors	ENST00000354608	ensembl	human	known	70_37	silent	SNP	0.992	T
PTGES	9536	genome.wustl.edu	37	9	132510990	132510990	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:132510990C>G	ENST00000340607.4	-	2	187	c.153G>C	c.(151-153)ctG>ctC	p.L51L	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	51					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCCGTGTCTCAGGGCATCCT	0.612																																																	0													52.0	44.0	47.0					9																	132510990		2203	4300	6503	SO:0001819	synonymous_variant	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.153G>C	9.37:g.132510990C>G			O14900|Q5SZC0	Silent	SNP	pfam_Membr-assoc_MAPEG	p.L51	ENST00000340607.4	37	c.153	CCDS6927.1	9																																																																																			PTGES	-	pfam_Membr-assoc_MAPEG		0.612	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	HGNC	protein_coding	OTTHUMT00000054599.2	C	NM_004878		132510990	-1	no_errors	ENST00000340607	ensembl	human	known	70_37	silent	SNP	1.000	G
AARSD1	80755	genome.wustl.edu	37	17	41113211	41113211	+	Missense_Mutation	SNP	G	G	A	rs34916785		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:41113211G>A	ENST00000427569.2	-	3	364	c.329C>T	c.(328-330)tCa>tTa	p.S110L	PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S193L|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S223L|AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S284L|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.S284L	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	110					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCTTTACCTGAATGCTGCTG	0.537																																																	0													250.0	245.0	247.0					17																	41113211		2203	4300	6503	SO:0001583	missense	100885850			BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.329C>T	17.37:g.41113211G>A	ENSP00000400870:p.Ser110Leu		B4DI73	Missense_Mutation	SNP	pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core	p.S284L	ENST00000427569.2	37	c.851	CCDS58552.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.896046|4.896046	0.91962|0.91962	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000441280;ENST00000430739|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	.|T;T	.|0.54071	.|0.59;0.59	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000008	.|T	.|0.72145	.|0.3424	M|M	0.75085|0.75085	2.285|2.285	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.999;0.998;0.998;0.998;1.0	.|D;D;P;D;D	.|0.76575	.|0.969;0.931;0.907;0.931;0.988	.|T	.|0.79264	.|-0.1875	.|9	.|0.87932	.|D	.|0	-27.7916|-27.7916	16.6939|16.6939	0.85329|0.85329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;284;193;241;110	.|Q9BTE6-2;B4DI73;C9J5N1;B3KSP9;Q9BTE6	.|.;.;.;.;AASD1_HUMAN	X|L	116|223;284;284;110;193	.|ENSP00000386621:S284L;ENSP00000409924:S284L	.|ENSP00000353355:S223L	Q|S	-|-	1|2	0|0	AARSD1|AARSD1	38366737|38366737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.863000|0.863000	0.49368|0.49368	9.427000|9.427000	0.97472|0.97472	2.157000|2.157000	0.67596|0.67596	0.542000|0.542000	0.68232|0.68232	CAG|TCA	PTGES3L-AARSD1	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core		0.537	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3L-AARSD1	HGNC	protein_coding	OTTHUMT00000467729.1	G	NM_001261434		41113211	-1	no_errors	ENST00000409399	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPLAD1	51495	genome.wustl.edu	37	15	65868827	65868827	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:65868827C>G	ENST00000261875.5	+	0	1365				PTPLAD1_ENST00000562901.1_3'UTR|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000566511.1_3'UTR|PTPLAD1_ENST00000569894.1_3'UTR|PTPLAD1_ENST00000442729.2_3'UTR|PTPLAD1_ENST00000568793.1_3'UTR|PTPLAD1_ENST00000566074.1_3'UTR|PTPLAD1_ENST00000565299.1_3'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1						activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ATTAAATTCTCAGTGAGGCTA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	51495				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.*110C>G	15.37:g.65868827C>G			A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	RNA	SNP	-	NULL	ENST00000261875.5	37	NULL	CCDS45282.1	15																																																																																			PTPLAD1	-	-		0.338	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1	C	NM_016395		65868827	+1	no_errors	ENST00000561763	ensembl	human	putative	70_37	rna	SNP	0.998	G
PTPN13	5783	genome.wustl.edu	37	4	87707030	87707030	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:87707030G>C	ENST00000411767.2	+	40	6349	c.6286G>C	c.(6286-6288)Gaa>Caa	p.E2096Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.E1905Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2101Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2077Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2101Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2096					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAAGTTATCAGAAGAGAGAAC	0.358																																																	0													71.0	63.0	66.0					4																	87707030		1863	4084	5947	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6286G>C	4.37:g.87707030G>C	ENSP00000407249:p.Glu2096Gln		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E2101Q	ENST00000411767.2	37	c.6301	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231410	0.39399	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53857	0.6;0.63;0.71;0.6;0.63	4.92	4.92	0.64577	.	0.134423	0.33217	N	0.005145	T	0.70422	0.3222	M	0.72118	2.19	0.25442	N	0.988089	P;D;D;D	0.89917	0.911;1.0;0.999;1.0	P;D;D;D	0.71414	0.474;0.973;0.939;0.973	T	0.63545	-0.6613	10	0.28530	T	0.3	.	18.0781	0.89433	0.0:0.0:1.0:0.0	.	1905;2077;2096;2101	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	2077;2101;1905;2096;2101;2045	ENSP00000408368:E2077Q;ENSP00000394794:E2101Q;ENSP00000322675:E1905Q;ENSP00000407249:E2096Q;ENSP00000426626:E2101Q	ENSP00000322675:E1905Q	E	+	1	0	PTPN13	87926054	1.000000	0.71417	0.358000	0.25811	0.186000	0.23388	4.331000	0.59273	2.418000	0.82041	0.460000	0.39030	GAA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87707030	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	0.676	C
PTPRC	5788	genome.wustl.edu	37	1	198701647	198701647	+	Missense_Mutation	SNP	G	G	C	rs372940886		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:198701647G>C	ENST00000367376.2	+	20	2269	c.2098G>C	c.(2098-2100)Gat>Cat	p.D700H	PTPRC_ENST00000348564.6_Missense_Mutation_p.D541H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D702H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D652H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D539H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	700	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GATAAACGGAGATGCAGGGTC	0.318																																																	0													86.0	82.0	83.0					1																	198701647		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2098G>C	1.37:g.198701647G>C	ENSP00000356346:p.Asp700His		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D702H	ENST00000367376.2	37	c.2104		1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457926	0.84317	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	D	0.84070	-1.8	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.125962	0.35870	N	0.002930	D	0.89385	0.6700	L	0.52759	1.655	0.58432	D	0.999996	B;D;D;D;D	0.71674	0.421;0.996;0.995;0.995;0.998	B;P;D;D;D	0.74023	0.167;0.895;0.972;0.972;0.982	D	0.88890	0.3345	10	0.56958	D	0.05	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	636;636;541;652;700	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	H	702;636;652;652;586;700;634;539	ENSP00000193532:D652H	ENSP00000306782:D539H	D	+	1	0	PTPRC	196968270	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.588000	0.67517	2.748000	0.94277	0.655000	0.94253	GAT	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G			198701647	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRK	5796	genome.wustl.edu	37	6	128318103	128318103	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:128318103C>G	ENST00000368215.3	-	17	2706	c.2707G>C	c.(2707-2709)Gat>Cat	p.D903H	PTPRK_ENST00000368227.3_Missense_Mutation_p.D916H|PTPRK_ENST00000532331.1_Missense_Mutation_p.D920H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D930H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D904H|PTPRK_ENST00000368210.3_Missense_Mutation_p.D916H|PTPRK_ENST00000368213.5_Missense_Mutation_p.D904H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	903	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAGCTACATCCCAAGATGCT	0.318																																																	0													88.0	82.0	84.0					6																	128318103		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2707G>C	6.37:g.128318103C>G	ENSP00000357198:p.Asp903His		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D916H	ENST00000368215.3	37	c.2746		6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833831	0.91036	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;2.77	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58354	1.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;0.997	D;D;D;D	0.81914	0.991;0.995;0.954;0.979	T	0.44436	-0.9328	10	0.87932	D	0	.	20.1325	0.98004	0.0:1.0:0.0:0.0	.	920;904;903;904	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	904;916;920;904;916;903;930;163	ENSP00000357209:D904H;ENSP00000357210:D916H;ENSP00000432973:D920H;ENSP00000357196:D904H;ENSP00000357193:D916H;ENSP00000357198:D903H;ENSP00000357190:D930H;ENSP00000408180:D163H	ENSP00000357190:D930H	D	-	1	0	PTPRK	128359796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.752000	0.85141	2.839000	0.97877	0.650000	0.86243	GAT	PTPRK	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.318	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128318103	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRS	5802	genome.wustl.edu	37	19	5219479	5219479	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5219479C>T	ENST00000587303.1	-	22	3865		c.e22-1		PTPRS_ENST00000357368.4_Splice_Site|PTPRS_ENST00000353284.2_Splice_Site|PTPRS_ENST00000262963.6_Splice_Site|PTPRS_ENST00000372412.4_Splice_Site|PTPRS_ENST00000588012.1_Splice_Site|PTPRS_ENST00000592099.1_Splice_Site|PTPRS_ENST00000588552.1_Splice_Site|PTPRS_ENST00000348075.2_Splice_Site			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S						cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGCAAAGGTCTGCAGGGAAA	0.592																																																	0													34.0	35.0	34.0					19																	5219479		2203	4300	6503	SO:0001630	splice_region_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3766-1G>A	19.37:g.5219479C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Splice_Site	SNP	-	e22-1	ENST00000587303.1	37	c.3769-1	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284479	0.59867	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4542	0.75299	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRS	5170479	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	5.299000	0.65716	1.873000	0.54277	0.557000	0.71058	.	PTPRS	-	-		0.592	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C		Intron	5219479	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PURG	29942	genome.wustl.edu	37	8	30890282	30890282	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:30890282C>T	ENST00000475541.1	-	1	949	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.R6Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	6						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		gccTCCCCTTCGCCTGGCTCT	0.632																																																	0													3.0	4.0	4.0					8																	30890282		1756	3745	5501	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.17G>A	8.37:g.30890282C>T	ENSP00000418721:p.Arg6Gln		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R6Q	ENST00000475541.1	37	c.17	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495642	0.44352	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.25912	1.77;1.81	3.96	1.93	0.25924	.	1.125970	0.07014	N	0.825579	T	0.11196	0.0273	N	0.08118	0	0.23174	N	0.998177	B;P	0.35700	0.249;0.516	B;B	0.25614	0.019;0.062	T	0.12372	-1.0550	10	0.87932	D	0	.	5.2878	0.15710	0.0:0.6278:0.2002:0.172	.	6;6	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	Q	6	ENSP00000345168:R6Q;ENSP00000418721:R6Q	ENSP00000345168:R6Q	R	-	2	0	PURG	31009824	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	2.431000	0.44775	1.922000	0.55676	0.306000	0.20318	CGA	PURG	-	NULL		0.632	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30890282	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.996	T
QRICH2	84074	genome.wustl.edu	37	17	74276491	74276491	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74276491G>A	ENST00000262765.5	-	11	4184	c.4005C>T	c.(4003-4005)gtC>gtT	p.V1335V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1335										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CATCAAACTGGACACGGCTCA	0.607																																																	0													127.0	110.0	116.0					17																	74276491		2203	4300	6503	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4005C>T	17.37:g.74276491G>A			A2RRE1|Q96LM3	Silent	SNP	NULL	p.V1335	ENST00000262765.5	37	c.4005	CCDS32741.1	17																																																																																			QRICH2	-	NULL		0.607	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74276491	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	silent	SNP	0.996	A
QSER1	79832	genome.wustl.edu	37	11	32975658	32975658	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:32975658G>A	ENST00000399302.2	+	5	4381	c.4046G>A	c.(4045-4047)gGa>gAa	p.G1349E	QSER1_ENST00000527788.1_Missense_Mutation_p.G1110E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1349										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGAAAGCGGAGGAGAAGGC	0.433																																																	0													151.0	159.0	156.0					11																	32975658		2019	4184	6203	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4046G>A	11.37:g.32975658G>A	ENSP00000382241:p.Gly1349Glu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.G1349E	ENST00000399302.2	37	c.4046	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436366|4.436366	0.83885|0.83885	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.41758	.|1.33;0.99	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.57140|0.57140	0.2033|0.2033	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.61697	.|0.565;0.99;0.465	.|B;P;B	.|0.52909	.|0.217;0.713;0.064	T|T	0.63125|0.63125	-0.6707|-0.6707	5|10	.|0.52906	.|T	.|0.07	.|.	13.3415|13.3415	0.60547|0.60547	0.1323:0.0:0.8677:0.0|0.1323:0.0:0.8677:0.0	.|.	.|1110;1110;1349	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	K|E	370|1349;1110;1110	.|ENSP00000382241:G1349E;ENSP00000432766:G1110E	.|ENSP00000078652:G1110E	E|G	+|+	1|2	0|0	QSER1|QSER1	32932234|32932234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.392000|5.392000	0.66272|0.66272	1.486000|1.486000	0.48398|0.48398	0.585000|0.585000	0.79938|0.79938	GAG|GGA	QSER1	-	NULL		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	G	NM_024774		32975658	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	A
RABGAP1L	9910	genome.wustl.edu	37	1	174957856	174957856	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:174957856G>C	ENST00000367688.3	+	6	669	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	RABGAP1L_ENST00000489615.1_Missense_Mutation_p.E281Q|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.E289Q|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.E219Q|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.E269Q|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.E288Q	NM_001243764.1	NP_001230693.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	164										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CACAGGCAGAGAGGACCAGGG	0.458																																																	0																																										SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367688.3:c.490G>C	1.37:g.174957856G>C	ENSP00000356661:p.Glu164Gln		B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E289Q	ENST00000367688.3	37	c.865	CCDS55662.1	1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200805	0.58234	.	.	ENSG00000152061	ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000392064;ENST00000367688	T;T;T	0.15487	2.42;2.65;2.64	5.94	5.94	0.96194	.	.	.	.	.	T	0.23054	0.0557	L	0.59436	1.845	0.34810	D	0.737637	B;B;B;B;B;B	0.16802	0.013;0.019;0.006;0.004;0.001;0.011	B;B;B;B;B;B	0.18561	0.007;0.003;0.019;0.006;0.005;0.022	T	0.11690	-1.0577	9	0.28530	T	0.3	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	164;219;281;288;289;167	B7ZAP0;F5H8L0;Q5R372-8;Q5R372-6;Q5R372-5;Q9Y6Y7	.;.;.;.;.;.	Q	269;288;289;281;219;164	ENSP00000318603:E269Q;ENSP00000356660:E288Q;ENSP00000281844:E289Q	ENSP00000318603:E269Q	E	+	1	0	RABGAP1L	173224479	1.000000	0.71417	0.879000	0.34478	0.929000	0.56500	4.170000	0.58229	2.816000	0.96949	0.561000	0.74099	GAG	RABGAP1L	-	NULL		0.458	RABGAP1L-015	PUTATIVE	basic|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084573.2	G	NM_001243765		174957856	+1	no_errors	ENST00000347255	ensembl	human	known	70_37	missense	SNP	0.986	C
RABGAP1L	9910	genome.wustl.edu	37	1	174959019	174959019	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:174959019G>C	ENST00000367688.3	+	7	822	c.643G>C	c.(643-645)Gaa>Caa	p.E215Q	RABGAP1L_ENST00000489615.1_Missense_Mutation_p.E332Q|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.E340Q|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.E270Q|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.E320Q|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.E339Q	NM_001243764.1	NP_001230693.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	215										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CCTTATGAATGAAATCCAAGC	0.418																																																	0																																										SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367688.3:c.643G>C	1.37:g.174959019G>C	ENSP00000356661:p.Glu215Gln		B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E340Q	ENST00000367688.3	37	c.1018	CCDS55662.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691690	0.88735	.	.	ENSG00000152061	ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000392064;ENST00000367688	T;T;T	0.20200	2.09;2.29;2.28	5.61	5.61	0.85477	.	.	.	.	.	T	0.49541	0.1563	M	0.76574	2.34	0.54753	D	0.99998	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.85130	0.996;0.997;0.991;0.991;0.966;0.991	T	0.39981	-0.9587	9	0.44086	T	0.13	.	19.6344	0.95724	0.0:0.0:1.0:0.0	.	215;270;332;339;340;218	B7ZAP0;F5H8L0;Q5R372-8;Q5R372-6;Q5R372-5;Q9Y6Y7	.;.;.;.;.;.	Q	320;339;340;332;270;215	ENSP00000318603:E320Q;ENSP00000356660:E339Q;ENSP00000281844:E340Q	ENSP00000318603:E320Q	E	+	1	0	RABGAP1L	173225642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.638000	0.89438	0.563000	0.77884	GAA	RABGAP1L	-	NULL		0.418	RABGAP1L-015	PUTATIVE	basic|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084573.2	G	NM_001243765		174959019	+1	no_errors	ENST00000347255	ensembl	human	known	70_37	missense	SNP	1.000	C
RAC2	5880	genome.wustl.edu	37	22	37622806	37622806	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:37622806C>G	ENST00000249071.6	-	6	607	c.486G>C	c.(484-486)caG>caC	p.Q162H	RAC2_ENST00000405484.1_Missense_Mutation_p.Q155H|RAC2_ENST00000406508.1_Missense_Mutation_p.Q118H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	162					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TCAGGCCTCTCTGGGTGAGAG	0.637																																																	0													56.0	64.0	61.0					22																	37622806		2203	4299	6502	SO:0001583	missense	5880			M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.486G>C	22.37:g.37622806C>G	ENSP00000249071:p.Gln162His		Q9UDJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q162H	ENST00000249071.6	37	c.486	CCDS13945.1	22	.	.	.	.	.	.	.	.	.	.	c	16.47	3.133223	0.56828	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	4.88	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.93854	3.465	0.80722	D	1	P	0.36199	0.543	P	0.51355	0.667	D	0.83690	0.0176	10	0.87932	D	0	.	7.5948	0.28041	0.0:0.7572:0.0:0.2428	.	162	P15153	RAC2_HUMAN	H	162;118;155;162	ENSP00000249071:Q162H;ENSP00000385270:Q118H;ENSP00000385590:Q155H;ENSP00000403778:Q162H	ENSP00000249071:Q162H	Q	-	3	2	RAC2	35952752	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	2.215000	0.42862	2.250000	0.74265	0.556000	0.70494	CAG	RAC2	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase		0.637	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAC2	HGNC	protein_coding	OTTHUMT00000318812.1	C			37622806	-1	no_errors	ENST00000249071	ensembl	human	known	70_37	missense	SNP	1.000	G
RAD23A	5886	genome.wustl.edu	37	19	13059322	13059322	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:13059322C>G	ENST00000586534.1	+	4	489	c.428C>G	c.(427-429)tCt>tGt	p.S143C	RAD23A_ENST00000592268.1_Missense_Mutation_p.S143C|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Intron|RAD23A_ENST00000316856.3_Missense_Mutation_p.S143C			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	143					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCTGTTCCCTCTTCAGGTAGC	0.632								Nucleotide excision repair (NER)																																									0													104.0	96.0	99.0					19																	13059322		2203	4300	6503	SO:0001583	missense	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.428C>G	19.37:g.13059322C>G	ENSP00000467024:p.Ser143Cys		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.S143C	ENST00000586534.1	37	c.428	CCDS12289.1	19	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400272	0.62177	.	.	ENSG00000179262	ENST00000316856	T	0.19669	2.13	4.27	4.27	0.50696	.	0.379543	0.23758	N	0.044846	T	0.25494	0.0620	N	0.19112	0.55	0.80722	D	1	P;D;D	0.64830	0.898;0.994;0.962	B;P;P	0.57204	0.284;0.815;0.515	T	0.04752	-1.0929	10	0.59425	D	0.04	-32.0387	13.6344	0.62215	0.0:1.0:0.0:0.0	.	143;160;143	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	C	143	ENSP00000321365:S143C	ENSP00000321365:S143C	S	+	2	0	RAD23A	12920322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.928000	0.63447	1.937000	0.56155	0.650000	0.86243	TCT	RAD23A	-	tigrfam_Rad23		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	C	NM_005053		13059322	+1	no_errors	ENST00000586534	ensembl	human	known	70_37	missense	SNP	1.000	G
RAD51	5888	genome.wustl.edu	37	15	41011012	41011012	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:41011012G>A	ENST00000267868.3	+	6	713	c.445G>A	c.(445-447)Gac>Aac	p.D149N	RAD51_ENST00000382643.3_Missense_Mutation_p.D150N|RAD51_ENST00000423169.2_Missense_Mutation_p.D149N|RAD51_ENST00000532743.1_Missense_Mutation_p.D150N|RAD51_ENST00000557850.1_Intron	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	149					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTTCCCATTGACCGGGGTGG	0.458								Homologous recombination																																									0													130.0	122.0	125.0					15																	41011012		2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.445G>A	15.37:g.41011012G>A	ENSP00000267868:p.Asp149Asn		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.D150N	ENST00000267868.3	37	c.448	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145240	0.77888	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.63	5.63	0.86233	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.49699	1.58	0.80722	D	1	B;B;B	0.20368	0.003;0.044;0.024	B;B;B	0.30572	0.002;0.117;0.073	T	0.31971	-0.9924	10	0.45353	T	0.12	-14.5862	19.2722	0.94015	0.0:0.0:1.0:0.0	.	149;150;149	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	N	149;149;149;150;150	ENSP00000432759:D149N;ENSP00000406602:D149N;ENSP00000267868:D149N;ENSP00000433924:D150N;ENSP00000372088:D150N	ENSP00000267868:D149N	D	+	1	0	RAD51	38798304	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.276000	0.95745	2.656000	0.90262	0.655000	0.94253	GAC	RAD51	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51		0.458	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1	G	NM_002875, NM_133487		41011012	+1	no_errors	ENST00000382643	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD51C	5889	genome.wustl.edu	37	17	56772321	56772321	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:56772321G>A	ENST00000337432.4	+	2	246	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.E59K|TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000421782.2_Missense_Mutation_p.E59K|TEX14_ENST00000349033.5_5'Flank|TEX14_ENST00000240361.8_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	59	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGCCTTAGAAACTCTGCA	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																																								0													88.0	99.0	96.0					17																	56772321		2203	4300	6503	SO:0001583	missense	5889	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.175G>A	17.37:g.56772321G>A	ENSP00000336701:p.Glu59Lys		O43503|Q3B783	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.E59K	ENST00000337432.4	37	c.175	CCDS11611.1	17	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342329	0.61073	.	.	ENSG00000108384	ENST00000337432;ENST00000421782	T;T	0.40225	1.04;1.4	5.91	5.91	0.95273	.	0.046220	0.85682	D	0.000000	T	0.61286	0.2335	M	0.77103	2.36	0.80722	D	1	D;P;D	0.69078	0.997;0.879;0.972	D;P;P	0.66716	0.946;0.688;0.891	T	0.58487	-0.7628	10	0.02654	T	1	-21.2356	18.8649	0.92287	0.0:0.0:1.0:0.0	.	50;59;59	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	59	ENSP00000336701:E59K;ENSP00000391450:E59K	ENSP00000336701:E59K	E	+	1	0	RAD51C	54127320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.950000	0.87804	2.804000	0.96469	0.650000	0.86243	GAA	RAD51C	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	HGNC	protein_coding	OTTHUMT00000280540.2	G	NM_058216		56772321	+1	no_errors	ENST00000337432	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD54L2	23132	genome.wustl.edu	37	3	51667945	51667945	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:51667945G>C	ENST00000409535.2	+	8	1161	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E40Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	346	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGCTGGCAGAGTTCAACAT	0.443																																																	0													111.0	116.0	115.0					3																	51667945		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1036G>C	3.37:g.51667945G>C	ENSP00000386520:p.Glu346Gln		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E346Q	ENST00000409535.2	37	c.1036	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.997874|4.997874	0.93227|0.93227	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.95377|.	-3.69;-3.69|.	5.38|5.38	5.38|5.38	0.77491|0.77491	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87645|0.87645	0.6229|0.6229	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91242|0.91242	0.5022|0.5022	10|5	0.87932|.	D|.	0|.	-18.1171|-18.1171	18.1254|18.1254	0.89584|0.89584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346|.	Q9Y4B4|.	ARIP4_HUMAN|.	Q|T	346;40|174	ENSP00000386520:E346Q;ENSP00000296477:E40Q|.	ENSP00000296477:E40Q|.	E|R	+|+	1|2	0|0	RAD54L2|RAD54L2	51642985|51642985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.837000|9.837000	0.99465|0.99465	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	GAG|AGA	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.443	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	G	NM_015106		51667945	+1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	C
RAG2	5897	genome.wustl.edu	37	11	36614675	36614675	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:36614675C>G	ENST00000311485.3	-	2	1205	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	348					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAGCACATTTCAACATATAGA	0.383									Familial Hemophagocytic Lymphohistiocytosis																																								0													164.0	162.0	163.0					11																	36614675		2202	4298	6500	SO:0001583	missense	5897	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1044G>C	11.37:g.36614675C>G	ENSP00000308620:p.Leu348Phe		A8K9E9|Q8TBL4	Missense_Mutation	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.L348F	ENST00000311485.3	37	c.1044	CCDS7903.1	11	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949055	0.34377	.	.	ENSG00000175097	ENST00000311485	D	0.91945	-2.94	5.1	3.23	0.37069	.	0.080796	0.48767	D	0.000167	D	0.95667	0.8591	M	0.89287	3.02	0.47476	D	0.99943	D	0.76494	0.999	D	0.87578	0.998	D	0.94382	0.7605	10	0.87932	D	0	-5.8296	7.3376	0.26619	0.0:0.7143:0.1375:0.1482	.	348	P55895	RAG2_HUMAN	F	348	ENSP00000308620:L348F	ENSP00000308620:L348F	L	-	3	2	RAG2	36571251	1.000000	0.71417	0.973000	0.42090	0.497000	0.33675	1.385000	0.34408	0.645000	0.30675	0.650000	0.86243	TTG	RAG2	-	pfam_RAG2		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1	C	NM_000536		36614675	-1	no_errors	ENST00000311485	ensembl	human	known	70_37	missense	SNP	1.000	G
RAPGEF1	2889	genome.wustl.edu	37	9	134459713	134459713	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:134459713C>T	ENST00000372189.3	-	21	2964	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	RAPGEF1_ENST00000372190.3_Silent_p.Q965Q|RAPGEF1_ENST00000372195.1_Silent_p.Q964Q	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	947	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AAGTCTGCTTCTGCCACTCCA	0.642																																																	0													22.0	27.0	25.0					9																	134459713		1988	4163	6151	SO:0001819	synonymous_variant	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2841G>A	9.37:g.134459713C>T			Q5JUE4|Q8IV73	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q965	ENST00000372189.3	37	c.2895	CCDS48047.1	9																																																																																			RAPGEF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.642	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	C	NM_005312		134459713	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	silent	SNP	1.000	T
RBBP6	5930	genome.wustl.edu	37	16	24578503	24578503	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:24578503G>A	ENST00000319715.4	+	15	2061	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	RBBP6_ENST00000348022.2_Silent_p.Q543Q|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	543					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAGATCACAGAGGACTCAAG	0.478																																																	0													156.0	145.0	149.0					16																	24578503		2197	4300	6497	SO:0001819	synonymous_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1629G>A	16.37:g.24578503G>A			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.Q543	ENST00000319715.4	37	c.1629	CCDS10621.1	16																																																																																			RBBP6	-	NULL		0.478	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	G	NM_006910		24578503	+1	no_errors	ENST00000319715	ensembl	human	known	70_37	silent	SNP	1.000	A
RBBP7	5931	genome.wustl.edu	37	X	16870688	16870688	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:16870688C>T	ENST00000380087.2	-	8	1309	c.949G>A	c.(949-951)Gat>Aat	p.D317N	RBBP7_ENST00000380084.4_Missense_Mutation_p.D361N|RBBP7_ENST00000404022.1_Missense_Mutation_p.D308N			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	317					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AAAATTTCATCTTTATGAGAT	0.368																																																	0													65.0	60.0	62.0					X																	16870688		2203	4300	6503	SO:0001583	missense	5931			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.949G>A	X.37:g.16870688C>T	ENSP00000369427:p.Asp317Asn		Q5JP00	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D317N	ENST00000380087.2	37	c.949	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112953	0.77210	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	N	0.25332	0.735	0.80722	D	1	B;B;B	0.13145	0.007;0.006;0.005	B;B;B	0.22601	0.029;0.04;0.026	T	0.44862	-0.9300	10	0.59425	D	0.04	-0.3291	17.6398	0.88132	0.0:1.0:0.0:0.0	.	308;317;361	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	N	317;361;308;121	ENSP00000369427:D317N;ENSP00000369424:D361N;ENSP00000386068:D308N;ENSP00000402796:D121N	ENSP00000369424:D361N	D	-	1	0	RBBP7	16780609	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.772000	0.85439	2.469000	0.83416	0.594000	0.82650	GAT	RBBP7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.368	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2	C	NM_002893		16870688	-1	no_errors	ENST00000380087	ensembl	human	known	70_37	missense	SNP	1.000	T
RBMXL1	494115	genome.wustl.edu	37	1	89448377	89448377	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:89448377C>T	ENST00000321792.5	-	2	1560	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G378E|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	378					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										AGATCGGCTTCCTCCAGGGCC	0.493																																																	0													76.0	81.0	79.0					1																	89448377		2203	4300	6503	SO:0001583	missense	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1133G>A	1.37:g.89448377C>T	ENSP00000318415:p.Gly378Glu			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.G378E	ENST00000321792.5	37	c.1133	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230567	0.22542	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77098	-1.07;-1.07	1.58	1.58	0.23477	.	0.000000	0.85682	U	0.000000	T	0.65302	0.2678	L	0.46614	1.455	0.41014	D	0.985022	D	0.69078	0.997	P	0.59643	0.861	T	0.66056	-0.6018	10	0.08179	T	0.78	-7.2129	8.7355	0.34525	0.0:1.0:0.0:0.0	.	378	Q96E39	RBMXL_HUMAN	E	378	ENSP00000318415:G378E;ENSP00000446099:G378E	ENSP00000318415:G378E	G	-	2	0	RBMXL1	89220965	1.000000	0.71417	0.349000	0.25694	0.787000	0.44495	4.995000	0.63908	0.878000	0.35920	0.306000	0.20318	GGA	RBMXL1	-	NULL		0.493	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	C	NM_019610		89448377	-1	no_errors	ENST00000321792	ensembl	human	known	70_37	missense	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125639816	125639816	+	Missense_Mutation	SNP	C	C	G	rs374834754		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:125639816C>G	ENST00000373670.1	-	8	1859	c.1259G>C	c.(1258-1260)cGa>cCa	p.R420P	RC3H2_ENST00000335387.5_Missense_Mutation_p.R420P|RC3H2_ENST00000423239.2_Missense_Mutation_p.R420P|RC3H2_ENST00000373665.2_Missense_Mutation_p.R420P|RC3H2_ENST00000357244.2_Missense_Mutation_p.R420P|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	420					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCCTTGCTGTCGCAAATCTCG	0.418																																																	0													267.0	260.0	262.0					9																	125639816		1895	4119	6014	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1259G>C	9.37:g.125639816C>G	ENSP00000362774:p.Arg420Pro		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R420P	ENST00000373670.1	37	c.1259	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432337	0.83776	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	M	0.76574	2.34	0.43230	D	0.995125	P;D;D;D	0.63880	0.625;0.967;0.993;0.991	P;P;P;P	0.61533	0.579;0.869;0.89;0.759	T	0.62416	-0.6859	10	0.59425	D	0.04	-5.3385	11.8819	0.52579	0.0:0.9207:0.0:0.0793	.	420;291;420;420	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	P	420;420;291;420;420;420	ENSP00000362774:R420P;ENSP00000349783:R420P;ENSP00000411767:R420P;ENSP00000362769:R420P;ENSP00000335150:R420P	ENSP00000335150:R420P	R	-	2	0	RC3H2	124679637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.673000	0.46858	2.627000	0.88993	0.637000	0.83480	CGA	RC3H2	-	pfam_Znf_CCCH,smart_Znf_CCCH		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125639816	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G
RET	5979	genome.wustl.edu	37	10	43608311	43608311	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:43608311G>A	ENST00000355710.3	+	9	1891	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	RET_ENST00000340058.5_Silent_p.R553R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	553					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGATCACCAGGAACTTCTCCA	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													98.0	70.0	80.0					10																	43608311		2203	4300	6503	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1659G>A	10.37:g.43608311G>A			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R553	ENST00000355710.3	37	c.1659	CCDS7200.1	10																																																																																			RET	-	pirsf_Tyr_kinase_Ret_rcpt		0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	G	NM_020975		43608311	+1	no_errors	ENST00000355710	ensembl	human	known	70_37	silent	SNP	1.000	A
RFX4	5992	genome.wustl.edu	37	12	107125951	107125951	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:107125951C>T	ENST00000392842.1	+	14	1809	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	RFX4_ENST00000357881.4_Silent_p.L474L|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L371L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	465	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTACGTGCTCTACCTGTTAG	0.473																																																	0													194.0	175.0	182.0					12																	107125951		2203	4300	6503	SO:0001819	synonymous_variant	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1395C>T	12.37:g.107125951C>T			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	pfam_DNA-bd_RFX	p.L474	ENST00000392842.1	37	c.1422	CCDS9106.1	12																																																																																			RFX4	-	NULL		0.473	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107125951	+1	no_errors	ENST00000357881	ensembl	human	known	70_37	silent	SNP	1.000	T
RGL3	57139	genome.wustl.edu	37	19	11529983	11529983	+	5'UTR	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11529983C>A	ENST00000380456.3	-	0	35				RGL3_ENST00000393423.3_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3						small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCAGTggcgccgctgagtgag	0.761																																					GBM(174;751 2067 17998 27979 33959)												0													21.0	26.0	24.0					19																	11529983		2193	4298	6491	SO:0001623	5_prime_UTR_variant	57139			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.-29G>T	19.37:g.11529983C>A			B5ME84|B7ZL22|Q0P6G0	RNA	SNP	-	NULL	ENST00000380456.3	37	NULL	CCDS32910.1	19																																																																																			RGL3	-	-		0.761	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	C	XM_290867		11529983	-1	no_errors	ENST00000561570	ensembl	human	known	70_37	rna	SNP	0.001	A
RGL4	266747	genome.wustl.edu	37	22	24034903	24034903	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:24034903G>C	ENST00000290691.5	+	3	1591	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E5Q|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	141	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCCGGCCCTGGAGCCAGCACC	0.582																																																	0													38.0	42.0	41.0					22																	24034903		2203	4299	6502	SO:0001583	missense	266747				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.421G>C	22.37:g.24034903G>C	ENSP00000290691:p.Glu141Gln		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.E141Q	ENST00000290691.5	37	c.421	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222089	0.39300	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.35421	1.31;1.37;1.37	2.36	0.115	0.14643	.	1.642900	0.04274	U	0.342710	T	0.43986	0.1272	L	0.29908	0.895	0.09310	N	1	P;P;D;D	0.69078	0.898;0.898;0.997;0.996	B;B;D;D	0.75484	0.425;0.425;0.986;0.955	T	0.28681	-1.0036	10	0.48119	T	0.1	.	3.5416	0.07814	0.1629:0.2658:0.5713:0.0	.	5;5;141;141	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	Q	5;141;141;141	ENSP00000383951:E5Q;ENSP00000290691:E141Q;ENSP00000402142:E141Q	ENSP00000290691:E141Q	E	+	1	0	RGL4	22364903	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.938000	0.03938	0.094000	0.17404	0.543000	0.68304	GAG	RGL4	-	NULL		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	G	NM_153615		24034903	+1	no_errors	ENST00000290691	ensembl	human	known	70_37	missense	SNP	0.000	C
RGS6	9628	genome.wustl.edu	37	14	73006802	73006802	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:73006802G>A	ENST00000553530.1	+	16	1575				RGS6_ENST00000343854.6_Splice_Site_p.V437V|RGS6_ENST00000556437.1_Splice_Site_p.V474V|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000554782.1_Splice_Site_p.V335V|RGS6_ENST00000407322.4_Splice_Site_p.V474V|RGS6_ENST00000404301.2_Splice_Site_p.V474V|RGS6_ENST00000553525.1_Splice_Site_p.V474V|RGS6_ENST00000434263.2_Splice_Site_p.V405V|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000406236.4_Splice_Site_p.V474V	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTCGCAGTGTGGTAAGTTCAG	0.353																																					Ovarian(143;1926 2468 21071 48641)												0													25.0	26.0	26.0					14																	73006802		876	1990	2866	SO:0001627	intron_variant	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1368+3819G>A	14.37:g.73006802G>A			C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V474	ENST00000553530.1	37	c.1422	CCDS9808.1	14																																																																																			RGS6	-	NULL		0.353	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	G			73006802	+1	no_errors	ENST00000553525	ensembl	human	known	70_37	silent	SNP	1.000	A
RGS9	8787	genome.wustl.edu	37	17	63198172	63198172	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:63198172C>G	ENST00000262406.9	+	14	1105	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	RGS9_ENST00000449996.3_Silent_p.V343V|RGS9_ENST00000443584.3_Silent_p.V343V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	346	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGTCCAAAGTCAAGGAGAAAG	0.547																																																	0													87.0	86.0	87.0					17																	63198172		1932	4141	6073	SO:0001819	synonymous_variant	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1038C>G	17.37:g.63198172C>G			A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V346	ENST00000262406.9	37	c.1038	CCDS42373.1	17																																																																																			RGS9	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.547	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	C	NM_003835		63198172	+1	no_errors	ENST00000262406	ensembl	human	known	70_37	silent	SNP	1.000	G
RHCG	51458	genome.wustl.edu	37	15	90016088	90016088	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:90016088C>G	ENST00000268122.4	-	10	1386	c.1318G>C	c.(1318-1320)Gaa>Caa	p.E440Q	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	440					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTGTTCCCTTCAGGCATCTAC	0.582											OREG0023459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128.0	91.0	104.0					15																	90016088		2081	4049	6130	SO:0001583	missense	51458			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1318G>C	15.37:g.90016088C>G	ENSP00000268122:p.Glu440Gln	1271	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.E440Q	ENST00000268122.4	37	c.1318	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602990	0.28534	.	.	ENSG00000140519	ENST00000268122;ENST00000536247	T	0.23147	1.92	4.16	1.14	0.20703	Ammonium transporter AmtB-like (1);	0.625587	0.16702	N	0.203092	T	0.14700	0.0355	N	0.24115	0.695	0.20196	N	0.999925	B	0.33549	0.417	B	0.35607	0.206	T	0.20273	-1.0280	9	.	.	.	-11.0814	6.0644	0.19856	0.0:0.6524:0.0:0.3476	.	440	Q9UBD6	RHCG_HUMAN	Q	440;431	ENSP00000268122:E440Q	.	E	-	1	0	RHCG	87817092	0.002000	0.14202	0.014000	0.15608	0.054000	0.15201	0.205000	0.17356	0.275000	0.22094	0.655000	0.94253	GAA	RHCG	-	NULL		0.582	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	C	NM_016321		90016088	-1	no_errors	ENST00000268122	ensembl	human	known	70_37	missense	SNP	0.016	G
RHOA	387	genome.wustl.edu	37	3	49405880	49405880	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:49405880G>A	ENST00000418115.1	-	3	642	c.258C>T	c.(256-258)atC>atT	p.I86I	RHOA_ENST00000422781.1_Silent_p.I86I|RHOA_ENST00000454011.2_Intron|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	86					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGGGCTGTCGATGGAAAAAC	0.502																																																	0													178.0	169.0	172.0					3																	49405880		2203	4300	6503	SO:0001819	synonymous_variant	387			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.258C>T	3.37:g.49405880G>A			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I86	ENST00000418115.1	37	c.258	CCDS2795.1	3																																																																																			RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.502	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	G	NM_001664		49405880	-1	no_errors	ENST00000418115	ensembl	human	known	70_37	silent	SNP	0.859	A
RICTOR	253260	genome.wustl.edu	37	5	38963098	38963098	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:38963098C>T	ENST00000357387.3	-	17	1476	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M482I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTCGTTTCTTCATTTCATGGA	0.388																																																	0													137.0	123.0	128.0					5																	38963098		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1446G>A	5.37:g.38963098C>T	ENSP00000349959:p.Met482Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M482I	ENST00000357387.3	37	c.1446	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209781	0.79240	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	Armadillo-type fold (1);	0.112791	0.85682	D	0.000000	T	0.38878	0.1057	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.31290	0.237;0.318	B;B	0.28638	0.054;0.092	T	0.27297	-1.0078	10	0.87932	D	0	-19.983	20.3431	0.98773	0.0:1.0:0.0:0.0	.	482;482	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	482	ENSP00000349959:M482I;ENSP00000296782:M482I	ENSP00000296782:M482I	M	-	3	0	RICTOR	38998855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.414000	0.80117	2.880000	0.98712	0.650000	0.86243	ATG	RICTOR	-	superfamily_ARM-type_fold		0.388	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	C	NM_152756		38963098	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	T
RNASE9	390443	genome.wustl.edu	37	14	21026810	21026810	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:21026810C>T	ENST00000557068.1	-	4	145		c.e4-1		RNASE9_ENST00000553706.1_Splice_Site|RNASE9_ENST00000429244.2_Intron|RNASE9_ENST00000557209.1_Splice_Site|RNASE9_ENST00000553541.1_Intron|RNASE9_ENST00000338904.3_Intron|RNASE9_ENST00000555230.1_Splice_Site|RNASE9_ENST00000556208.1_Splice_Site|RNASE9_ENST00000554964.1_Intron|RNASE9_ENST00000404716.3_Splice_Site			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)							extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		ACATCTTGATCTGGAGAGAAC	0.517																																																	0													88.0	81.0	83.0					14																	21026810		692	1591	2283	SO:0001630	splice_region_variant	390443			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.1581-1G>A	14.37:g.21026810C>T			A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Splice_Site	SNP	-	e1-1	ENST00000557068.1	37	c.1-1	CCDS32036.1	14																																																																																			RNASE9	-	-		0.517	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RNASE9	HGNC	protein_coding	OTTHUMT00000411094.1	C	NM_001001673	Intron	21026810	-1	no_errors	ENST00000555230	ensembl	human	known	70_37	splice_site	SNP	0.001	T
RNF133	168433	genome.wustl.edu	37	7	122338231	122338231	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:122338231C>T	ENST00000340112.2	-	1	979	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	248					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGATTTATTTCTTCATCCCCC	0.388																																					Colon(198;1778 2057 7449 19869 45985)												0													168.0	159.0	162.0					7																	122338231		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.742G>A	7.37:g.122338231C>T	ENSP00000344489:p.Glu248Lys		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E248K	ENST00000340112.2	37	c.742	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523290	0.64747	.	.	ENSG00000188050	ENST00000340112	T	0.68331	-0.32	5.53	5.53	0.82687	.	0.158174	0.40818	U	0.001016	T	0.81725	0.4883	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82853	-0.0252	10	0.59425	D	0.04	.	17.2415	0.87014	0.0:1.0:0.0:0.0	.	248	Q8WVZ7	RN133_HUMAN	K	248	ENSP00000344489:E248K	ENSP00000344489:E248K	E	-	1	0	RNF133	122125467	0.634000	0.27190	0.763000	0.31416	0.262000	0.26303	2.706000	0.47135	2.596000	0.87737	0.491000	0.48974	GAA	RNF133	-	NULL		0.388	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338231	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF133	168433	genome.wustl.edu	37	7	122338412	122338412	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:122338412C>T	ENST00000340112.2	-	1	798	c.561G>A	c.(559-561)atG>atA	p.M187I	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	187					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AATAGTGATTCATCCAGATGA	0.378																																					Colon(198;1778 2057 7449 19869 45985)												0													124.0	109.0	114.0					7																	122338412		2203	4300	6503	SO:0001583	missense	168433			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.561G>A	7.37:g.122338412C>T	ENSP00000344489:p.Met187Ile		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M187I	ENST00000340112.2	37	c.561	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754601	0.31046	.	.	ENSG00000188050	ENST00000340112	T	0.13307	2.6	5.62	4.72	0.59763	.	0.302795	0.31156	U	0.008149	T	0.11537	0.0281	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.10109	-1.0644	10	0.27785	T	0.31	.	9.4601	0.38778	0.0:0.78:0.145:0.0749	.	187	Q8WVZ7	RN133_HUMAN	I	187	ENSP00000344489:M187I	ENSP00000344489:M187I	M	-	3	0	RNF133	122125648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.176000	0.31957	1.320000	0.45209	0.561000	0.74099	ATG	RNF133	-	NULL		0.378	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	C	NM_139175		122338412	-1	no_errors	ENST00000340112	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF168	165918	genome.wustl.edu	37	3	196198875	196198875	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:196198875C>G	ENST00000318037.3	-	6	2125	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	511					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GAGCCTCTCTCTGGTGTTGGA	0.433																																																	0													347.0	319.0	329.0					3																	196198875		2203	4300	6503	SO:0001583	missense	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1531G>C	3.37:g.196198875C>G	ENSP00000320898:p.Glu511Gln		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E511Q	ENST00000318037.3	37	c.1531	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	C	1.371	-0.586043	0.03827	.	.	ENSG00000163961	ENST00000318037	T	0.05996	3.36	5.68	-3.84	0.04256	.	1.171900	0.06098	N	0.664906	T	0.02083	0.0065	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44498	-0.9324	10	0.11794	T	0.64	2.8369	1.5103	0.02494	0.186:0.3072:0.3:0.2068	.	511	Q8IYW5	RN168_HUMAN	Q	511	ENSP00000320898:E511Q	ENSP00000320898:E511Q	E	-	1	0	RNF168	197683272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.886000	0.03966	-1.090000	0.02178	GAG	RNF168	-	NULL		0.433	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	C	NM_152617		196198875	-1	no_errors	ENST00000318037	ensembl	human	known	70_37	missense	SNP	0.000	G
RNF180	285671	genome.wustl.edu	37	5	63496634	63496634	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:63496634G>C	ENST00000389100.4	+	2	72		c.e2-1		RNF180_ENST00000296615.6_Splice_Site|RNF180_ENST00000381081.2_Splice_Site	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180						adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGTTTCCGCAGATGAAAAGAA	0.338																																																	0													98.0	96.0	96.0					5																	63496634		2203	4300	6503	SO:0001630	splice_region_variant	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.0-1G>C	5.37:g.63496634G>C			Q0JSU3|Q495A8|Q8NBD1	Splice_Site	SNP	-	e1-1	ENST00000389100.4	37	c.1-1	CCDS47219.1	5																																																																																			RNF180	-	-		0.338	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	G	NM_178532	Intron	63496634	+1	no_errors	ENST00000389100	ensembl	human	known	70_37	splice_site	SNP	1.000	C
RNF213	57674	genome.wustl.edu	37	17	78318879	78318879	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78318879G>C	ENST00000582970.1	+	29	6887	c.6744G>C	c.(6742-6744)aaG>aaC	p.K2248N	RNF213_ENST00000508628.2_Missense_Mutation_p.K2297N|RNF213_ENST00000336301.6_Missense_Mutation_p.K321N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2248					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCTTCAAGAAGTTCGTGG	0.498																																																	0													141.0	130.0	134.0					17																	78318879		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6744G>C	17.37:g.78318879G>C	ENSP00000464087:p.Lys2248Asn		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.K2248N	ENST00000582970.1	37	c.6744	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342565	0.24339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32753	1.44	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.76328	2.33	0.30488	N	0.771685	D	0.89917	1.0	D	0.78314	0.991	T	0.60429	-0.7265	10	0.87932	D	0	.	11.208	0.48782	0.1921:0.0:0.8079:0.0	.	321	Q63HN8	RN213_HUMAN	N	2248;2297;321	ENSP00000338218:K321N	ENSP00000338218:K321N	K	+	3	2	RNF213	75933474	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	2.956000	0.49129	1.463000	0.47967	0.563000	0.77884	AAG	RNF213	-	NULL		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78318879	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF213	57674	genome.wustl.edu	37	17	78319163	78319163	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78319163G>C	ENST00000582970.1	+	29	7171	c.7028G>C	c.(7027-7029)aGa>aCa	p.R2343T	RNF213_ENST00000508628.2_Missense_Mutation_p.R2392T|RNF213_ENST00000336301.6_Missense_Mutation_p.R416T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2343					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCATCAAGAGAGACGTCATG	0.532																																																	0													109.0	101.0	104.0					17																	78319163		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7028G>C	17.37:g.78319163G>C	ENSP00000464087:p.Arg2343Thr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R2343T	ENST00000582970.1	37	c.7028	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	3.907	-0.020951	0.07634	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22945	1.93	5.84	-2.89	0.05665	.	0.380141	0.26293	N	0.025220	T	0.16599	0.0399	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.20184	0.028	T	0.28267	-1.0049	10	0.59425	D	0.04	.	14.8597	0.70372	0.4523:0.0:0.5477:0.0	.	416	Q63HN8	RN213_HUMAN	T	2343;2392;416	ENSP00000338218:R416T	ENSP00000338218:R416T	R	+	2	0	RNF213	75933758	0.000000	0.05858	0.023000	0.16930	0.068000	0.16541	-0.306000	0.08178	-0.319000	0.08652	-0.136000	0.14681	AGA	RNF213	-	NULL		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78319163	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.003	C
RNF213	57674	genome.wustl.edu	37	17	78320023	78320023	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78320023G>A	ENST00000582970.1	+	29	8031	c.7888G>A	c.(7888-7890)Gaa>Aaa	p.E2630K	RNF213_ENST00000508628.2_Missense_Mutation_p.E2679K|RNF213_ENST00000336301.6_Missense_Mutation_p.E703K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2630					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGGAAAACAGAAGATGAGTG	0.532																																																	0													97.0	99.0	99.0					17																	78320023		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7888G>A	17.37:g.78320023G>A	ENSP00000464087:p.Glu2630Lys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2630K	ENST00000582970.1	37	c.7888	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	2.370	-0.344500	0.05208	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.45276	0.9	5.77	0.281	0.15687	.	1.211680	0.05795	N	0.611112	T	0.19927	0.0479	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19451	-1.0305	10	0.05833	T	0.94	.	6.3504	0.21373	0.2553:0.3609:0.3837:0.0	.	703	Q63HN8	RN213_HUMAN	K	2630;2679;703	ENSP00000338218:E703K	ENSP00000338218:E703K	E	+	1	0	RNF213	75934618	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.297000	0.19101	-0.121000	0.11787	-0.844000	0.03045	GAA	RNF213	-	NULL		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78320023	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	A
RNMT	8731	genome.wustl.edu	37	18	13731787	13731787	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:13731787G>C	ENST00000383314.2	+	3	511	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	RNMT_ENST00000262173.3_Missense_Mutation_p.E91Q|RNMT_ENST00000592764.1_Missense_Mutation_p.E91Q|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000543302.2_Missense_Mutation_p.E91Q|RNMT_ENST00000589866.1_Missense_Mutation_p.E91Q			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	91					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AATTGTCCCAGAGGAAAAAGA	0.373																																					GBM(29;474 594 19092 36647 41529)												0													79.0	86.0	84.0					18																	13731787		2203	4300	6503	SO:0001583	missense	8731			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.271G>C	18.37:g.13731787G>C	ENSP00000372804:p.Glu91Gln		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E91Q	ENST00000383314.2	37	c.271	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351464	0.41700	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	5.23	0.72850	.	0.099993	0.43747	D	0.000525	T	0.60470	0.2271	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.989;0.993	P;P	0.58266	0.836;0.722	T	0.56117	-0.8032	9	0.29301	T	0.29	-25.0125	15.8788	0.79185	0.0:0.0:1.0:0.0	.	91;91	O43148-2;O43148	.;MCES_HUMAN	Q	91	.	ENSP00000262173:E91Q	E	+	1	0	RNMT	13721787	0.998000	0.40836	0.995000	0.50966	0.050000	0.14768	3.291000	0.51764	2.595000	0.87683	0.655000	0.94253	GAG	RNMT	-	pirsf_mRNA_G-N7_MeTrfase		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	G	NM_003799		13731787	+1	no_errors	ENST00000262173	ensembl	human	known	70_37	missense	SNP	0.986	C
ROBO2	6092	genome.wustl.edu	37	3	77671452	77671452	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:77671452C>G	ENST00000461745.1	+	23	4529	c.3629C>G	c.(3628-3630)tCt>tGt	p.S1210C	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1226C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1210C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1210					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCTTGATTTCTGATTTGGAA	0.458																																																	0													122.0	122.0	122.0					3																	77671452		1911	4131	6042	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3629C>G	3.37:g.77671452C>G	ENSP00000417164:p.Ser1210Cys		O43608|Q19AB4|Q19AB5	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.S1210C	ENST00000461745.1	37	c.3629	CCDS43109.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699140|3.699140	0.68501|0.68501	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.68331	.|-0.15;-0.11;-0.32	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.41001	.|D	.|0.000970	T|T	0.79528|0.79528	0.4461|0.4461	L|L	0.50333|0.50333	1.59|1.59	.|0.30130	.|N	.|0.80488	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.984;0.997;0.984	T|T	0.80621|0.80621	-0.1301|-0.1301	4|9	.|0.87932	.|D	.|0	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1226;1210;1210	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	L|C	41|1226;1226;1210;1210	.|ENSP00000417335:S1226C;ENSP00000417164:S1210C;ENSP00000327536:S1210C	.|ENSP00000327536:S1210C	F|S	+|+	3|2	2|0	ROBO2|ROBO2	77754142|77754142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.380000|0.380000	0.30137|0.30137	7.487000|7.487000	0.81328|0.81328	2.611000|2.611000	0.88343|0.88343	0.650000|0.650000	0.86243|0.86243	TTC|TCT	ROBO2	-	NULL		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	C	XM_031246		77671452	+1	no_errors	ENST00000461745	ensembl	human	known	70_37	missense	SNP	1.000	G
ROR2	4920	genome.wustl.edu	37	9	94495547	94495547	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:94495547C>T	ENST00000375708.3	-	6	992	c.794G>A	c.(793-795)cGc>cAc	p.R265H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R125H	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	265	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTACTCCTGGCGGCACAGGTC	0.677																																																	0													45.0	41.0	42.0					9																	94495547		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.794G>A	9.37:g.94495547C>T	ENSP00000364860:p.Arg265His		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R265H	ENST00000375708.3	37	c.794	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263642	0.39995	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76186	-1.0;-1.0	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.39759	N	0.001268	T	0.64605	0.2613	N	0.25485	0.75	0.44780	D	0.997787	B;B;B	0.20780	0.029;0.031;0.048	B;B;B	0.21546	0.013;0.005;0.035	T	0.61501	-0.7050	10	0.37606	T	0.19	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	265;265;125	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	H	125;265	ENSP00000364867:R125H;ENSP00000364860:R265H	ENSP00000364860:R265H	R	-	2	0	ROR2	93535368	0.999000	0.42202	1.000000	0.80357	0.911000	0.54048	1.034000	0.30204	2.306000	0.77630	0.561000	0.74099	CGC	ROR2	-	pfam_Frizzled_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom		0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94495547	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	1.000	T
ROS1	6098	genome.wustl.edu	37	6	117622176	117622176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:117622176C>A	ENST00000368508.3	-	42	6892	c.6694G>T	c.(6694-6696)Gaa>Taa	p.E2232*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2226*|RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2232					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTTTGCTTCATCTCTGGAC	0.348			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													83.0	82.0	82.0					6																	117622176		2203	4300	6503	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6694G>T	6.37:g.117622176C>A	ENSP00000357494:p.Glu2232*		Q15368|Q5TDB5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E2232*	ENST00000368508.3	37	c.6694	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	48	14.086237	0.99778	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.02	2.07	0.26955	.	0.397966	0.24072	N	0.041810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	3.2984	0.06974	0.0:0.4959:0.2152:0.2889	.	.	.	.	X	2232;2226	.	ENSP00000357493:E2226X	E	-	1	0	ROS1	117728869	0.001000	0.12720	0.006000	0.13384	0.960000	0.62799	0.941000	0.29005	0.694000	0.31654	0.655000	0.94253	GAA	ROS1	-	NULL		0.348	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117622176	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	nonsense	SNP	0.002	A
ROS1	6098	genome.wustl.edu	37	6	117622181	117622181	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:117622181C>G	ENST00000368508.3	-	42	6887	c.6689G>C	c.(6688-6690)aGa>aCa	p.R2230T	ROS1_ENST00000368507.3_Missense_Mutation_p.R2224T|RN7SKP18_ENST00000516005.1_RNA|RN7SKP51_ENST00000410781.1_RNA	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2230					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTTCATCTCTGGACTTATA	0.363			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													82.0	82.0	82.0					6																	117622181		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6689G>C	6.37:g.117622181C>G	ENSP00000357494:p.Arg2230Thr		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R2230T	ENST00000368508.3	37	c.6689	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	5.789	0.329901	0.10956	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71103	-0.54;-0.54	5.02	1.1	0.20463	.	0.565487	0.17031	N	0.189734	T	0.26268	0.0641	N	0.24115	0.695	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.21793	-1.0235	10	0.19147	T	0.46	.	5.0358	0.14434	0.1362:0.5512:0.0:0.3127	.	2230	P08922	ROS1_HUMAN	T	2230;2224	ENSP00000357494:R2230T;ENSP00000357493:R2224T	ENSP00000357493:R2224T	R	-	2	0	ROS1	117728874	0.000000	0.05858	0.001000	0.08648	0.872000	0.50106	-0.100000	0.10990	0.062000	0.16340	-0.140000	0.14226	AGA	ROS1	-	NULL		0.363	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117622181	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.002	G
RPE65	6121	genome.wustl.edu	37	1	68896970	68896970	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:68896970C>G	ENST00000262340.5	-	12	1386	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	445					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTACCCTATCTGGAACAAAG	0.343																																																	0													83.0	78.0	79.0					1																	68896970		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1333G>C	1.37:g.68896970C>G	ENSP00000262340:p.Asp445His		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.D445H	ENST00000262340.5	37	c.1333	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275269	0.80580	.	.	ENSG00000116745	ENST00000262340	D	0.95690	-3.78	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.72032	D	0.01	0.3655	18.5925	0.91218	0.0:1.0:0.0:0.0	.	445	Q16518	RPE65_HUMAN	H	445	ENSP00000262340:D445H	ENSP00000262340:D445H	D	-	1	0	RPE65	68669558	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.410000	0.80065	2.412000	0.81896	0.555000	0.69702	GAT	RPE65	-	pfam_Carotenoid_Oase		0.343	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	C	NM_000329		68896970	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	1.000	G
RPGR	6103	genome.wustl.edu	37	X	38146372	38146372	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:38146372G>C	ENST00000339363.3	-	14	2662	c.2495C>G	c.(2494-2496)tCa>tGa	p.S832*	RPGR_ENST00000309513.3_Nonsense_Mutation_p.S565*|RPGR_ENST00000342811.3_Nonsense_Mutation_p.S627*|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000378505.2_Nonsense_Mutation_p.S627*|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Nonsense_Mutation_p.S627*			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	832	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAGGTCATCTGATAGGATCTC	0.468																																																	0													251.0	172.0	199.0					X																	38146372		2202	4300	6502	SO:0001587	stop_gained	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2495C>G	X.37:g.38146372G>C	ENSP00000343671:p.Ser832*		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S627*	ENST00000339363.3	37	c.1880		X	.	.	.	.	.	.	.	.	.	.	g	35	5.474034	0.96291	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	.	.	.	2.64	1.74	0.24563	.	0.921754	0.08749	U	0.899395	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	8.3534	0.32316	0.0:0.0:0.5839:0.416	.	.	.	.	X	832;565;627;627;627	.	ENSP00000308783:S565X	S	-	2	0	RPGR	38031316	0.971000	0.33674	0.266000	0.24541	0.184000	0.23303	1.399000	0.34566	0.340000	0.23745	-0.512000	0.04463	TCA	RPGR	-	NULL		0.468	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		G	NM_000328		38146372	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	nonsense	SNP	0.153	C
RPH3A	22895	genome.wustl.edu	37	12	113327880	113327880	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113327880G>A	ENST00000389385.4	+	18	2112	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.E539K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E535K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E490K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E539K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E539K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E490K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	539					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCTTTATGAGGAAGAGGTGAG	0.507																																																	0													153.0	150.0	151.0					12																	113327880		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1615G>A	12.37:g.113327880G>A	ENSP00000374036:p.Glu539Lys		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.E539K	ENST00000389385.4	37	c.1615	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575450	0.65878	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.07;0.06;0.06;0.06	5.29	5.29	0.74685	.	0.089755	0.46758	D	0.000263	T	0.54967	0.1891	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.17852	0.024;0.002;0.002;0.024	B;B;B;B	0.14023	0.006;0.003;0.003;0.01	T	0.48352	-0.9043	10	0.25106	T	0.35	.	18.0793	0.89438	0.0:0.0:1.0:0.0	.	490;539;539;535	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	539;539;490;535;539;490;539;191	ENSP00000440384:E539K;ENSP00000374036:E539K;ENSP00000413254:E490K;ENSP00000448297:E535K;ENSP00000405357:E539K;ENSP00000450347:E490K;ENSP00000408889:E539K	ENSP00000374036:E539K	E	+	1	0	RPH3A	111812263	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.198000	0.94994	2.625000	0.88918	0.655000	0.94253	GAA	RPH3A	-	NULL		0.507	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	G	NM_014954		113327880	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL10A	4736	genome.wustl.edu	37	6	35436227	35436227	+	Intron	SNP	C	C	T	rs377147414		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:35436227C>T	ENST00000322203.6	+	1	32				RPL10A_ENST00000467020.1_Intron	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a						anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GTGAGTTGGTCCTGAAAGCCC	0.632											OREG0017378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		1,4405	2.1+/-5.4	0,1,2202	109.0	97.0	101.0			-6.9	0.0	6		101	0,8600		0,0,4300	no	intron	RPL10A	NM_007104.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			35436227	1,13005	2203	4300	6503	SO:0001627	intron_variant	4736			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.5+11C>T	6.37:g.35436227C>T		855	B2R801|P52859|P53025|Q5TZT6|Q8J013	RNA	SNP	-	NULL	ENST00000322203.6	37	NULL	CCDS4806.1	6																																																																																			RPL10A	-	-		0.632	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	C	NM_007104		35436227	+1	no_errors	ENST00000464112	ensembl	human	known	70_37	rna	SNP	0.000	T
RPL23AP7	118433	genome.wustl.edu	37	2	114369640	114369640	+	RNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:114369640C>G	ENST00000416673.2	-	0	516					NR_000029.3				ribosomal protein L23a pseudogene 7																		GGGTGCTCTTCTGAGGCTATC	0.542																																																	0																																												118433			BC000596		2q14	2009-03-11				ENSG00000240356		"""L ribosomal proteins"""	17336	pseudogene	pseudogene						19123937	Standard	NR_000029		Approved	RPL23AL1, bA395L14.9	uc010yxy.1				2.37:g.114369640C>G				RNA	SNP	-	NULL	ENST00000416673.2	37	NULL		2																																																																																			RPL23AP7	-	-		0.542	RPL23AP7-003	KNOWN	basic	processed_transcript	RPL23AP7	HGNC	pseudogene	OTTHUMT00000397215.1	C			114369640	-1	no_errors	ENST00000391616	ensembl	human	known	70_37	rna	SNP	1.000	G
RPL4	6124	genome.wustl.edu	37	15	66795497	66795497	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:66795497G>C	ENST00000307961.6	-	3	273	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	ZWILCH_ENST00000565627.1_5'Flank|SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000446801.2_5'Flank|RPL4_ENST00000568588.1_De_novo_Start_OutOfFrame|RPL4_ENST00000564517.1_5'Flank|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000307897.5_5'Flank|SNORD18C_ENST00000362704.1_RNA|ZWILCH_ENST00000535141.2_5'Flank|SNORD18A_ENST00000363753.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	61					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCACTAGTCTGATGACCTAAA	0.478																																																	0													40.0	40.0	40.0					15																	66795497		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.181C>G	15.37:g.66795497G>C	ENSP00000311430:p.Gln61Glu		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.Q61E	ENST00000307961.6	37	c.181	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538010	0.65085	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.75	4.75	0.60458	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.78155	0.4239	M	0.86740	2.835	0.80722	D	1	B;B	0.29671	0.037;0.254	B;B	0.40659	0.07;0.336	T	0.80531	-0.1341	9	0.59425	D	0.04	-15.3507	17.9672	0.89102	0.0:0.0:1.0:0.0	.	61;61	B4DFI6;P36578	.;RL4_HUMAN	E	61	.	ENSP00000311430:Q61E	Q	-	1	0	RPL4	64582551	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.405000	0.97313	2.468000	0.83385	0.555000	0.69702	CAG	RPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	G	NM_000968		66795497	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	C
RPL7L1	285855	genome.wustl.edu	37	6	42852380	42852380	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:42852380G>T	ENST00000493763.1	+	4	617	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RPL7L1_ENST00000602561.1_Missense_Mutation_p.R105I|RPL7L1_ENST00000424341.2_Missense_Mutation_p.R105I|RPL7L1_ENST00000304734.5_Missense_Mutation_p.R105I|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	105						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			CTGGTGCAGAGAACCATTGCA	0.443																																																	0													109.0	107.0	108.0					6																	42852380		2203	4300	6503	SO:0001583	missense	285855				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.314G>T	6.37:g.42852380G>T	ENSP00000418221:p.Arg105Ile		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.R105I	ENST00000493763.1	37	c.314	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649840	0.67358	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	5.24	-1.83	0.07833	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.401030	0.28901	N	0.013775	T	0.43656	0.1257	M	0.72479	2.2	0.20873	N	0.999839	D;P	0.53462	0.96;0.724	P;P	0.58721	0.844;0.682	T	0.50013	-0.8877	9	0.87932	D	0	.	10.7672	0.46301	0.7757:0.0:0.2243:0.0	.	105;105	B7Z652;Q6DKI1	.;RL7L_HUMAN	I	105	.	ENSP00000346063:R105I	R	+	2	0	RPL7L1	42960358	0.001000	0.12720	0.023000	0.16930	0.830000	0.47004	0.212000	0.17497	-0.208000	0.10171	-0.218000	0.12543	AGA	RPL7L1	-	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.443	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	G	XM_209769		42852380	+1	no_errors	ENST00000304734	ensembl	human	known	70_37	missense	SNP	0.184	T
RPRD2	23248	genome.wustl.edu	37	1	150390097	150390097	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150390097C>G	ENST00000369068.4	+	2	235	c.231C>G	c.(229-231)ctC>ctG	p.L77L	RPRD2_ENST00000401000.4_Silent_p.L77L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Silent_p.L77L|RPRD2_ENST00000539519.1_Silent_p.L77L	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	77	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTTGAATCTCTTTTACCTTG	0.363																																																	0													227.0	213.0	217.0					1																	150390097		1861	4102	5963	SO:0001819	synonymous_variant	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.231C>G	1.37:g.150390097C>G			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.L77	ENST00000369068.4	37	c.231	CCDS44216.1	1																																																																																			RPRD2	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD		0.363	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150390097	+1	no_errors	ENST00000369068	ensembl	human	known	70_37	silent	SNP	1.000	G
RPRD2	23248	genome.wustl.edu	37	1	150444968	150444968	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150444968C>T	ENST00000369068.4	+	11	3548	c.3544C>T	c.(3544-3546)Cgt>Tgt	p.R1182C	RPRD2_ENST00000401000.4_Missense_Mutation_p.R1156C|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1182						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGCAGCTTTCGTTCCAACAG	0.557																																																	0													103.0	102.0	102.0					1																	150444968		2039	4182	6221	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3544C>T	1.37:g.150444968C>T	ENSP00000358064:p.Arg1182Cys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.R1182C	ENST00000369068.4	37	c.3544	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208746	0.39003	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.61742	0.08;0.09	4.59	4.59	0.56863	.	0.078589	0.49916	D	0.000126	T	0.52901	0.1763	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	T	0.60984	-0.7154	10	0.87932	D	0	-6.5672	11.6607	0.51345	0.2855:0.7145:0.0:0.0	.	1182;1156	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	C	1156;1182	ENSP00000383785:R1156C;ENSP00000358064:R1182C	ENSP00000358064:R1182C	R	+	1	0	RPRD2	148711592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.131000	0.31406	2.363000	0.80096	0.563000	0.77884	CGT	RPRD2	-	NULL		0.557	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150444968	+1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T
RPRD2	23248	genome.wustl.edu	37	1	150445007	150445007	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150445007C>T	ENST00000369068.4	+	11	3587	c.3583C>T	c.(3583-3585)Ccc>Tcc	p.P1195S	RPRD2_ENST00000401000.4_Missense_Mutation_p.P1169S|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1195	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATCATCTTCCCCCATCCCC	0.517																																																	0													114.0	113.0	114.0					1																	150445007		2028	4161	6189	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3583C>T	1.37:g.150445007C>T	ENSP00000358064:p.Pro1195Ser		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.P1195S	ENST00000369068.4	37	c.3583	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908629	0.52439	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.65549	-0.16;-0.14	4.59	4.59	0.56863	.	0.082491	0.49916	D	0.000139	T	0.60996	0.2312	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.68784	-0.5317	10	0.66056	D	0.02	-10.0053	17.1925	0.86883	0.0:1.0:0.0:0.0	.	1195;1169	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	S	1169;1195	ENSP00000383785:P1169S;ENSP00000358064:P1195S	ENSP00000358064:P1195S	P	+	1	0	RPRD2	148711631	0.883000	0.30277	1.000000	0.80357	0.942000	0.58702	1.482000	0.35486	2.363000	0.80096	0.563000	0.77884	CCC	RPRD2	-	NULL		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	C	NM_015203		150445007	+1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS6KL1	83694	genome.wustl.edu	37	14	75376458	75376458	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:75376458C>T	ENST00000555647.1	-	8	1345	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353D|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322D|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353D|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TAGCACCGGGCCGGCCCCCTC	0.697																																																	0													10.0	13.0	12.0					14																	75376458		2157	4245	6402	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1058G>A	14.37:g.75376458C>T	ENSP00000452027:p.Gly353Asp		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G353D	ENST00000555647.1	37	c.1058	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214682	0.06101	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.57107	0.46;0.42;0.46;0.46	5.27	2.39	0.29439	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.913212	0.09477	N	0.796930	T	0.37293	0.0998	L	0.38531	1.155	0.09310	N	1	B;B;B	0.17667	0.002;0.023;0.01	B;B;B	0.17722	0.002;0.019;0.016	T	0.29731	-1.0002	10	0.19147	T	0.46	-1.6137	3.5696	0.07912	0.1869:0.5188:0.0:0.2943	.	353;353;322	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	D	353;322;353;353	ENSP00000452027:G353D;ENSP00000346644:G322D;ENSP00000450567:G353D;ENSP00000351086:G353D	ENSP00000346644:G322D	G	-	2	0	RPS6KL1	74446211	0.018000	0.18449	0.306000	0.25113	0.001000	0.01503	0.108000	0.15396	0.197000	0.20387	-0.379000	0.06801	GGC	RPS6KL1	-	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		0.697	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	C			75376458	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	missense	SNP	0.179	T
RPS6KL1	83694	genome.wustl.edu	37	14	75376468	75376468	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:75376468C>T	ENST00000555647.1	-	8	1335	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E350K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E319K|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E350K|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCGGCCCCCTCAGGAACCCAA	0.701																																																	0													10.0	13.0	12.0					14																	75376468		2165	4253	6418	SO:0001583	missense	83694			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1048G>A	14.37:g.75376468C>T	ENSP00000452027:p.Glu350Lys		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E350K	ENST00000555647.1	37	c.1048	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	9.200	1.028236	0.19512	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.61627	0.17;0.09;0.17;0.17	5.4	2.55	0.30701	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.689616	0.14325	N	0.326775	T	0.46190	0.1380	L	0.55481	1.735	0.20975	N	0.999814	B;B;P	0.42296	0.335;0.02;0.775	B;B;B	0.41412	0.058;0.008;0.356	T	0.27191	-1.0081	10	0.11485	T	0.65	-6.366	4.5083	0.11899	0.1431:0.4724:0.3034:0.0812	.	350;350;319	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	K	350;319;350;350	ENSP00000452027:E350K;ENSP00000346644:E319K;ENSP00000450567:E350K;ENSP00000351086:E350K	ENSP00000346644:E319K	E	-	1	0	RPS6KL1	74446221	0.006000	0.16342	0.017000	0.16124	0.155000	0.21991	0.899000	0.28417	0.245000	0.21373	0.561000	0.74099	GAG	RPS6KL1	-	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		0.701	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	C			75376468	-1	no_errors	ENST00000358328	ensembl	human	known	70_37	missense	SNP	0.187	T
RPTOR	57521	genome.wustl.edu	37	17	78858868	78858868	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:78858868G>A	ENST00000306801.3	+	17	2265	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	635					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAGAGGACGGACCACTCCAC	0.682																																																	0													61.0	45.0	50.0					17																	78858868		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1903G>A	17.37:g.78858868G>A	ENSP00000307272:p.Asp635Asn		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.D635N	ENST00000306801.3	37	c.1903	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.639703	0.96693	.	.	ENSG00000141564	ENST00000306801	T	0.35973	1.28	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.63843	1.955	0.80722	D	1	D	0.54207	0.965	P	0.46758	0.526	T	0.33879	-0.9851	10	0.24483	T	0.36	.	17.8063	0.88602	0.0:0.0:1.0:0.0	.	635	Q8N122	RPTOR_HUMAN	N	635	ENSP00000307272:D635N	ENSP00000307272:D635N	D	+	1	0	RPTOR	76473463	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.259000	0.95561	2.209000	0.71365	0.462000	0.41574	GAC	RPTOR	-	superfamily_ARM-type_fold		0.682	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78858868	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	1.000	A
RPUSD2	27079	genome.wustl.edu	37	15	40864067	40864067	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:40864067G>C	ENST00000315616.7	+	2	909	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E230Q	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	291					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGTCTCTGAGAGAATTCA	0.552																																																	0													92.0	94.0	93.0					15																	40864067		2203	4300	6503	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.871G>C	15.37:g.40864067G>C	ENSP00000323288:p.Glu291Gln		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.E291Q	ENST00000315616.7	37	c.871	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859176	0.51376	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.14144	2.53	6.17	6.17	0.99709	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.140352	0.64402	D	0.000009	T	0.08980	0.0222	N	0.13371	0.34	0.37339	D	0.910324	B	0.19935	0.04	B	0.25987	0.065	T	0.19451	-1.0305	10	0.46703	T	0.11	-26.1683	8.1392	0.31073	0.1799:0.0:0.8201:0.0	.	291	Q8IZ73	RUSD2_HUMAN	Q	291;270	ENSP00000323288:E291Q	ENSP00000323288:E291Q	E	+	1	0	RPUSD2	38651359	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.670000	0.46833	2.941000	0.99782	0.655000	0.94253	GAG	RPUSD2	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D		0.552	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	G	NM_152260		40864067	+1	no_errors	ENST00000315616	ensembl	human	known	70_37	missense	SNP	0.905	C
RPUSD3	285367	genome.wustl.edu	37	3	9879801	9879801	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:9879801G>C	ENST00000383820.5	-	9	956	c.955C>G	c.(955-957)Ctc>Gtc	p.L319V	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.L304V	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	319					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					GTGCCTGGGAGAAGGAGCCGA	0.647																																																	0													41.0	41.0	41.0					3																	9879801		2203	4300	6503	SO:0001583	missense	285367			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.955C>G	3.37:g.9879801G>C	ENSP00000373331:p.Leu319Val		B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.L319V	ENST00000383820.5	37	c.955	CCDS2586.2	3	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320670	0.60634	.	.	ENSG00000156990	ENST00000433535;ENST00000383820	T;T	0.32988	1.43;1.43	5.11	4.23	0.50019	Pseudouridine synthase, catalytic domain (1);	0.134911	0.51477	D	0.000095	T	0.51381	0.1671	M	0.71581	2.175	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.65443	0.935;0.896	T	0.55036	-0.8203	10	0.72032	D	0.01	.	12.4546	0.55697	0.0:0.0:0.6953:0.3047	.	304;319	Q6P087-2;Q6P087	.;RUSD3_HUMAN	V	304;319	ENSP00000398921:L304V;ENSP00000373331:L319V	ENSP00000373331:L319V	L	-	1	0	RPUSD3	9854801	1.000000	0.71417	0.866000	0.34008	0.879000	0.50718	2.241000	0.43097	1.125000	0.41998	-0.324000	0.08512	CTC	RPUSD3	-	superfamily_PsdUridine_synth_cat_dom		0.647	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	G	NM_173659		9879801	-1	no_errors	ENST00000383820	ensembl	human	known	70_37	missense	SNP	0.913	C
RRP12	23223	genome.wustl.edu	37	10	99132923	99132923	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:99132923C>G	ENST00000370992.4	-	18	2172	c.2061G>C	c.(2059-2061)aaG>aaC	p.K687N	RRP12_ENST00000414986.1_Missense_Mutation_p.K626N|RRP12_ENST00000536831.1_Missense_Mutation_p.K405N|RRP12_ENST00000315563.6_Missense_Mutation_p.K587N|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	687						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAGAAAGTTCTTGGCAAAGC	0.577																																																	0													59.0	61.0	60.0					10																	99132923		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2061G>C	10.37:g.99132923C>G	ENSP00000360031:p.Lys687Asn		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.K687N	ENST00000370992.4	37	c.2061	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327751	0.41197	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.48	3.62	0.41486	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.84846	2.72	0.80722	D	1	D;P;D;D	0.76494	0.983;0.921;0.999;0.994	P;P;D;P	0.68353	0.851;0.735;0.957;0.873	T	0.76950	-0.2769	10	0.48119	T	0.1	-25.9918	9.7564	0.40506	0.0:0.7583:0.0:0.2417	.	626;587;405;687	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	N	687;587;626;405	ENSP00000360031:K687N;ENSP00000324315:K587N;ENSP00000414863:K626N;ENSP00000446184:K405N	ENSP00000324315:K587N	K	-	3	2	RRP12	99122913	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	1.395000	0.34520	0.672000	0.31204	0.313000	0.20887	AAG	RRP12	-	superfamily_ARM-type_fold		0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99132923	-1	no_errors	ENST00000370992	ensembl	human	known	70_37	missense	SNP	1.000	G
RRP15	51018	genome.wustl.edu	37	1	218458788	218458788	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:218458788G>C	ENST00000366932.3	+	1	160	c.130G>C	c.(130-132)Gat>Cat	p.D44H	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	44						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D44N(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGACACTTCTGATAGTGAAGG	0.517																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											126.0	110.0	115.0					1																	218458788		2203	4300	6503	SO:0001583	missense	51018				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.130G>C	1.37:g.218458788G>C	ENSP00000355899:p.Asp44His			Missense_Mutation	SNP	pfam_DUF1665	p.D44H	ENST00000366932.3	37	c.130	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	G	9.637	1.137983	0.21123	.	.	ENSG00000067533	ENST00000366932	T	0.30182	1.54	4.12	2.27	0.28462	.	0.327243	0.30446	N	0.009608	T	0.25005	0.0607	L	0.29908	0.895	0.09310	N	1	D	0.56746	0.977	P	0.48952	0.596	T	0.05716	-1.0868	10	0.46703	T	0.11	-5.4991	6.4316	0.21801	0.2167:0.0:0.7833:0.0	.	44	Q9Y3B9	RRP15_HUMAN	H	44	ENSP00000355899:D44H	ENSP00000355899:D44H	D	+	1	0	RRP15	216525411	0.020000	0.18652	0.001000	0.08648	0.013000	0.08279	1.429000	0.34903	0.699000	0.31761	-0.145000	0.13849	GAT	RRP15	-	NULL		0.517	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	G	NM_016052		218458788	+1	no_errors	ENST00000366932	ensembl	human	known	70_37	missense	SNP	0.001	C
RSF1	51773	genome.wustl.edu	37	11	77378488	77378488	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:77378488G>C	ENST00000308488.6	-	16	4102	c.3800C>G	c.(3799-3801)tCa>tGa	p.S1267*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1236*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1015*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1267					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGACCGCTTTGATTCTTTAGC	0.463																																																	0													65.0	67.0	66.0					11																	77378488		2200	4291	6491	SO:0001587	stop_gained	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3800C>G	11.37:g.77378488G>C	ENSP00000311513:p.Ser1267*		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S1267*	ENST00000308488.6	37	c.3800	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	G	47	13.307284	0.99733	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.13	5.13	0.70059	.	0.176782	0.27563	N	0.018806	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-7.1759	14.0548	0.64761	0.0:0.151:0.8489:0.0	.	.	.	.	X	1267;1015;1236	.	ENSP00000311513:S1267X	S	-	2	0	RSF1	77056136	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	2.530000	0.45641	2.681000	0.91329	0.462000	0.41574	TCA	RSF1	-	NULL		0.463	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	G	NM_016578		77378488	-1	no_errors	ENST00000308488	ensembl	human	known	70_37	nonsense	SNP	1.000	C
RTN4	57142	genome.wustl.edu	37	2	55254364	55254364	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:55254364C>T	ENST00000337526.6	-	3	1114	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RTN4_ENST00000394611.2_Missense_Mutation_p.E85K|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E85K|RTN4_ENST00000354474.6_Splice_Site|RTN4_ENST00000405240.1_Missense_Mutation_p.E85K|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.E85K|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCTGAAAACTCTGTTAAATCT	0.373																																																	0													74.0	74.0	74.0					2																	55254364		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.871G>A	2.37:g.55254364C>T	ENSP00000337838:p.Glu291Lys		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Splice_Site	SNP	-	e2-1	ENST00000337526.6	37	c.176-1	CCDS42684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.18|11.18	1.563885|1.563885	0.27915|0.27915	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000354474|ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	.|T;T;T;T;T	.|0.22945	.|1.93;1.93;2.31;1.93;1.93	6.02|6.02	4.2|4.2	0.49525|0.49525	.|.	.|0.393777	.|0.25178	.|N	.|0.032549	.|T	.|0.25306	.|0.0615	M|M	0.62723|0.62723	1.935|1.935	0.53005|0.53005	D|D	0.999966|0.999966	.|P	.|0.38922	.|0.651	.|B	.|0.32677	.|0.15	.|T	.|0.04281	.|-1.0963	.|10	.|0.72032	.|D	.|0.01	.|-1.7523	11.8357|11.8357	0.52323|0.52323	0.0:0.8104:0.1237:0.0659|0.0:0.8104:0.1237:0.0659	.|.	.|291	.|Q9NQC3	.|RTN4_HUMAN	.|K	-1|85;85;291;85;85;85	.|ENSP00000384471:E85K;ENSP00000349944:E85K;ENSP00000337838:E291K;ENSP00000378109:E85K;ENSP00000385650:E85K	.|ENSP00000337838:E291K	.|E	-|-	.|1	.|0	RTN4|RTN4	55107868|55107868	0.714000|0.714000	0.27936|0.27936	0.311000|0.311000	0.25182|0.25182	0.702000|0.702000	0.40608|0.40608	2.851000|2.851000	0.48302|0.48302	0.836000|0.836000	0.34901|0.34901	0.650000|0.650000	0.86243|0.86243	.|GAG	RTN4	-	-		0.373	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	C			55254364	-1	no_errors	ENST00000354474	ensembl	human	known	70_37	splice_site	SNP	0.288	T
RUFY2	55680	genome.wustl.edu	37	10	70139148	70139148	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70139148G>C	ENST00000602465.1	-	12	1306				RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000472394.2_5'Flank			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2							nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						aagaagaaaagaaaaaaagaa	0.373																																																	0													81.0	80.0	80.0					10																	70139148		1827	4067	5894	SO:0001627	intron_variant	55680			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1205+32C>G	10.37:g.70139148G>C			B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	RNA	SNP	-	NULL	ENST00000602465.1	37	NULL		10																																																																																			RUFY2	-	-		0.373	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	G	NM_017987		70139148	-1	no_errors	ENST00000491118	ensembl	human	known	70_37	rna	SNP	0.000	C
RUNX1T1	862	genome.wustl.edu	37	8	92983038	92983038	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:92983038C>T	ENST00000523629.1	-	11	1841	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E426K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E426K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E463K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E474K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E426K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E436K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E436K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	463					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTGCAGCTCCGTCATCGCC	0.592																																																	0													73.0	58.0	63.0					8																	92983038		2203	4300	6503	SO:0001583	missense	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1387G>A	8.37:g.92983038C>T	ENSP00000428543:p.Glu463Lys		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.E474K	ENST00000523629.1	37	c.1420	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	37	5.983615	0.97173	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.992	D;D;D;D	0.91635	0.967;0.999;0.994;0.973	T	0.74272	-0.3719	10	0.87932	D	0	-16.7685	20.2182	0.98305	0.0:1.0:0.0:0.0	.	474;426;463;436	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	K	463;436;463;426;426;426;474;436	ENSP00000428543:E463K;ENSP00000379520:E436K;ENSP00000265814:E463K;ENSP00000353504:E426K;ENSP00000390137:E426K;ENSP00000428742:E426K;ENSP00000402257:E474K;ENSP00000430728:E436K	ENSP00000265814:E463K	E	-	1	0	RUNX1T1	93052214	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GAG	RUNX1T1	-	prints_ETO		0.592	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	C	NM_004349, NM_175635		92983038	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	missense	SNP	1.000	T
S100A16	140576	genome.wustl.edu	37	1	153580076	153580076	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153580076C>G	ENST00000368704.1	-	3	431	c.246G>C	c.(244-246)ttG>ttC	p.L82F	S100A16_ENST00000368705.2_Missense_Mutation_p.L82F|S100A16_ENST00000368703.2_Missense_Mutation_p.L82F|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Missense_Mutation_p.L82F			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCGCCTATCAAGGTCCAGT	0.592																																					Melanoma(71;1388 1729 37039 46098)												0													106.0	95.0	99.0					1																	153580076		2203	4300	6503	SO:0001583	missense	140576			BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.246G>C	1.37:g.153580076C>G	ENSP00000357693:p.Leu82Phe		A8K439|D3DV52|Q5RHS6	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L82F	ENST00000368704.1	37	c.246	CCDS1045.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582270	0.65992	.	.	ENSG00000188643	ENST00000368704;ENST00000368705;ENST00000368706;ENST00000368703	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	4.38	3.46	0.39613	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.324485	0.22518	N	0.059014	T	0.04543	0.0124	L	0.57130	1.785	0.35136	D	0.768421	P	0.49559	0.925	B	0.42593	0.392	T	0.40905	-0.9538	10	0.33141	T	0.24	-17.045	10.7668	0.46299	0.0:0.9042:0.0:0.0958	.	82	Q96FQ6	S10AG_HUMAN	F	82	ENSP00000357693:L82F;ENSP00000357694:L82F;ENSP00000357695:L82F;ENSP00000357692:L82F	ENSP00000357692:L82F	L	-	3	2	S100A16	151846700	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.719000	0.47244	1.203000	0.43233	0.456000	0.33151	TTG	S100A16	-	pfscan_EF_HAND_2		0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A16	HGNC	protein_coding	OTTHUMT00000037713.1	C	NM_080388		153580076	-1	no_errors	ENST00000368703	ensembl	human	known	70_37	missense	SNP	1.000	G
RUSC1	23623	genome.wustl.edu	37	1	155300518	155300518	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:155300518C>G	ENST00000368352.5	+	0	3016				RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_3'UTR|RUSC1_ENST00000368349.4_3'UTR|RUSC1_ENST00000368354.3_3'UTR|RUSC1_ENST00000292254.4_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTTCTTCCCTCCTATACCCAC	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.*156C>G	1.37:g.155300518C>G			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1	-	-		0.408	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155300518	+1	no_errors	ENST00000462780	ensembl	human	known	70_37	rna	SNP	0.001	G
SAA1	6288	genome.wustl.edu	37	11	18291272	18291272	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:18291272G>C	ENST00000405158.2	+	4	423	c.239G>C	c.(238-240)aGa>aCa	p.R80T	SAA1_ENST00000356524.4_Missense_Mutation_p.R80T|SAA1_ENST00000532858.1_Missense_Mutation_p.R80T	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	80					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCGATGCCAGAGAGAATATC	0.537																																																	0													107.0	95.0	99.0					11																	18291272		2199	4293	6492	SO:0001583	missense	6288			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.239G>C	11.37:g.18291272G>C	ENSP00000384906:p.Arg80Thr		P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.R80T	ENST00000405158.2	37	c.239	CCDS7835.1	11	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355182	0.61293	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.15834	2.39;2.39;2.39	3.55	2.63	0.31362	.	0.073640	0.53938	D	0.000053	T	0.48241	0.1489	H	0.94222	3.51	0.29122	N	0.880199	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	T	0.51132	-0.8744	10	0.87932	D	0	.	8.5514	0.33453	0.1142:0.0:0.8857:0.0	.	80;80	D3DQX7;P02735	.;SAA_HUMAN	T	80	ENSP00000348918:R80T;ENSP00000436866:R80T;ENSP00000384906:R80T	ENSP00000348918:R80T	R	+	2	0	SAA1	18247848	1.000000	0.71417	0.521000	0.27850	0.017000	0.09413	5.590000	0.67530	1.059000	0.40554	0.561000	0.74099	AGA	SAA1	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A		0.537	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA1	HGNC	protein_coding	OTTHUMT00000395864.1	G	NM_199161		18291272	+1	no_errors	ENST00000356524	ensembl	human	known	70_37	missense	SNP	0.998	C
SACS	26278	genome.wustl.edu	37	13	23911873	23911873	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:23911873C>T	ENST00000382292.3	-	9	6415	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	SACS_ENST00000402364.1_Missense_Mutation_p.E1298K|SACS_ENST00000382298.3_Missense_Mutation_p.E2048K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2048					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGTGTTTTCAAGTAGTATC	0.343																																																	0													25.0	28.0	27.0					13																	23911873		2196	4293	6489	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6142G>A	13.37:g.23911873C>T	ENSP00000371729:p.Glu2048Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E2048K	ENST00000382292.3	37	c.6142	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072419	0.55646	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.13;-2.27;-2.13	5.88	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	L	0.47716	1.5	0.48288	D	0.999621	D	0.59357	0.985	P	0.53518	0.728	D	0.87435	0.2391	10	0.39692	T	0.17	.	15.0071	0.71522	0.0:0.932:0.0:0.068	.	2048	Q9NZJ4	SACS_HUMAN	K	2048;1298;2048	ENSP00000371729:E2048K;ENSP00000385844:E1298K;ENSP00000371735:E2048K	ENSP00000371729:E2048K	E	-	1	0	SACS	22809873	1.000000	0.71417	0.952000	0.39060	0.988000	0.76386	7.487000	0.81328	1.493000	0.48517	-0.136000	0.14681	GAA	SACS	-	NULL		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	C	NM_014363		23911873	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.999	T
SAFB2	9667	genome.wustl.edu	37	19	5600247	5600247	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:5600247C>G	ENST00000252542.4	-	12	1848	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	528	Lys-rich.			K -> M (in Ref. 4; AAH25279). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCTTCTCAATCTTCTCTTCCT	0.418																																					Ovarian(127;888 1728 23957 44128 52668)												0													162.0	143.0	150.0					19																	5600247		2203	4300	6503	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1584G>C	19.37:g.5600247C>G	ENSP00000252542:p.Lys528Asn		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.K528N	ENST00000252542.4	37	c.1584	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520130	0.64747	.	.	ENSG00000130254	ENST00000252542	T	0.22539	1.95	4.23	1.6	0.23607	.	0.247257	0.29002	N	0.013452	T	0.14917	0.0360	L	0.46157	1.445	0.31240	N	0.695261	P	0.49185	0.92	B	0.37780	0.258	T	0.15723	-1.0427	10	0.46703	T	0.11	-7.597	7.9921	0.30246	0.0:0.7436:0.0:0.2564	.	528	Q14151	SAFB2_HUMAN	N	528	ENSP00000252542:K528N	ENSP00000252542:K528N	K	-	3	2	SAFB2	5551247	0.117000	0.22190	0.716000	0.30569	0.961000	0.63080	0.235000	0.17948	0.741000	0.32674	0.655000	0.94253	AAG	SAFB2	-	NULL		0.418	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1	C	NM_014649		5600247	-1	no_errors	ENST00000252542	ensembl	human	known	70_37	missense	SNP	0.889	G
SALL1	6299	genome.wustl.edu	37	16	51172627	51172627	+	Missense_Mutation	SNP	C	C	G	rs145583796		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:51172627C>G	ENST00000251020.4	-	2	3539	c.3506G>C	c.(3505-3507)aGa>aCa	p.R1169T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R1072T|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1169					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGTGAAAGCTCTTCCACAAAT	0.468																																					GBM(103;1352 1446 1855 4775 8890)												0													106.0	95.0	99.0					16																	51172627		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3506G>C	16.37:g.51172627C>G	ENSP00000251020:p.Arg1169Thr		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1169T	ENST00000251020.4	37	c.3506	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531346	0.64972	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.19394	2.15;2.15	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.137725	0.64402	D	0.000004	T	0.23806	0.0576	L	0.45137	1.4	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.02966	-1.1088	10	0.62326	D	0.03	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	1169	Q9NSC2	SALL1_HUMAN	T	1169;1072;1133	ENSP00000251020:R1169T;ENSP00000407914:R1072T	ENSP00000251020:R1169T	R	-	2	0	SALL1	49730128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.469000	0.83416	0.563000	0.77884	AGA	SALL1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	C	NM_002968		51172627	-1	no_errors	ENST00000251020	ensembl	human	known	70_37	missense	SNP	1.000	G
SAMD9	54809	genome.wustl.edu	37	7	92734909	92734909	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:92734909C>T	ENST00000379958.2	-	3	771	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	168						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTACTGAATTCATCAAATGGA	0.363																																																	0													145.0	145.0	145.0					7																	92734909		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.502G>A	7.37:g.92734909C>T	ENSP00000369292:p.Glu168Lys		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E168K	ENST00000379958.2	37	c.502	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755748	0.15846	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14144	2.53;2.53	4.7	-0.536	0.11876	.	0.838469	0.10418	N	0.677088	T	0.07954	0.0199	L	0.36672	1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.44406	-0.9330	10	0.07175	T	0.84	.	4.8374	0.13471	0.0:0.2781:0.1732:0.5487	.	168	Q5K651	SAMD9_HUMAN	K	168	ENSP00000369292:E168K;ENSP00000414529:E168K	ENSP00000369292:E168K	E	-	1	0	SAMD9	92572845	0.000000	0.05858	0.663000	0.29738	0.936000	0.57629	-0.079000	0.11357	0.007000	0.14760	0.603000	0.83216	GAA	SAMD9	-	NULL		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92734909	-1	no_errors	ENST00000379958	ensembl	human	known	70_37	missense	SNP	0.260	T
SAR1A	56681	genome.wustl.edu	37	10	71917551	71917551	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:71917551G>C	ENST00000373242.2	-	6	513	c.317C>G	c.(316-318)tCt>tGt	p.S106C	SAR1A_ENST00000373241.4_Missense_Mutation_p.S106C|SAR1A_ENST00000373238.1_Missense_Mutation_p.S106C|SAR1A_ENST00000458634.2_Missense_Mutation_p.S63C|SAR1A_ENST00000373236.1_Missense_Mutation_p.S106C|SAR1A_ENST00000431664.2_Missense_Mutation_p.S106C	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	106					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CACGAGGCGAGAATGATCTGC	0.343																																																	0													88.0	79.0	82.0					10																	71917551		2203	4300	6503	SO:0001583	missense	56681				CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.317C>G	10.37:g.71917551G>C	ENSP00000362339:p.Ser106Cys		B4DQ19	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S106C	ENST00000373242.2	37	c.317	CCDS7298.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808254|2.808254	0.50421|0.50421	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000395026|ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000452767;ENST00000373236	.|D;D;D;D;D;D	.|0.82984	.|-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Small GTP-binding protein domain (1);	.|0.484852	.|0.22680	.|N	.|0.056960	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.69463|0.69463	2.115|2.115	0.37061|0.37061	D|D	0.898078|0.898078	.|B	.|0.28971	.|0.229	.|B	.|0.37387	.|0.248	D|D	0.86338|0.86338	0.1703|0.1703	6|10	0.87932|0.87932	D|D	0|0	.|.	13.2085|13.2085	0.59811|0.59811	0.0:0.16:0.8399:0.0|0.0:0.16:0.8399:0.0	.|.	.|106	.|Q9NR31	.|SAR1A_HUMAN	V|C	13|106;106;106;106;106;63;10;106	.|ENSP00000362338:S106C;ENSP00000362335:S106C;ENSP00000362339:S106C;ENSP00000399698:S106C;ENSP00000437979:S63C;ENSP00000362333:S106C	ENSP00000378471:L13V|ENSP00000362333:S106C	L|S	-|-	1|2	0|0	SAR1A|SAR1A	71587557|71587557	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.321000|3.321000	0.51999|0.51999	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	CTC|TCT	SAR1A	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.343	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1A	HGNC	protein_coding	OTTHUMT00000048500.2	G			71917551	-1	no_errors	ENST00000373238	ensembl	human	known	70_37	missense	SNP	1.000	C
SASS6	163786	genome.wustl.edu	37	1	100586960	100586960	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:100586960G>A	ENST00000287482.5	-	5	597	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	153					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.L153I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGCCTGCGAGAAATTTCTTT	0.303																																																	1	Substitution - Missense(1)	large_intestine(1)											57.0	59.0	58.0					1																	100586960		2201	4300	6501	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.457C>T	1.37:g.100586960G>A	ENSP00000287482:p.Leu153Phe		D3DT55|Q8N3K0	Missense_Mutation	SNP	NULL	p.L153F	ENST00000287482.5	37	c.457	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626958	0.66901	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.34072	1.38	5.61	1.05	0.20165	.	0.073764	0.53938	D	0.000050	T	0.45637	0.1352	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49969	-0.8882	10	0.87932	D	0	-9.1116	8.0347	0.30486	0.4631:0.0:0.5369:0.0	.	153	Q6UVJ0	SAS6_HUMAN	F	153;126	ENSP00000287482:L153F	ENSP00000287482:L153F	L	-	1	0	SASS6	100359548	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.068000	0.30629	0.398000	0.25338	0.655000	0.94253	CTC	SASS6	-	NULL		0.303	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	G	NM_194292		100586960	-1	no_errors	ENST00000287482	ensembl	human	known	70_37	missense	SNP	1.000	A
SATB2	23314	genome.wustl.edu	37	2	200213501	200213501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:200213501G>A	ENST00000417098.1	-	7	1912	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q248*|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Q307*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q366*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q366*	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	366					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACTTGCTGGTAGATATCT	0.502																																					Colon(30;262 767 11040 24421 36230)												0													165.0	160.0	162.0					2																	200213501		2203	4300	6503	SO:0001587	stop_gained	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1096C>T	2.37:g.200213501G>A	ENSP00000401112:p.Gln366*		A8K5Z8|Q3ZB87|Q4V763	Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q366*	ENST00000417098.1	37	c.1096	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.832487	0.98513	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.72	5.72	0.89469	.	0.061913	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.7253	19.8861	0.96913	0.0:0.0:1.0:0.0	.	.	.	.	X	366;307;366;248;366	.	ENSP00000260926:Q366X	Q	-	1	0	SATB2	199921746	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.811000	0.99226	2.711000	0.92665	0.655000	0.94253	CAG	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	G	NM_015265		200213501	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SATB2	23314	genome.wustl.edu	37	2	200298085	200298085	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:200298085G>C	ENST00000417098.1	-	3	1138	c.322C>G	c.(322-324)Cac>Gac	p.H108D	SATB2_ENST00000428695.1_Missense_Mutation_p.H108D|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.H108D|SATB2_ENST00000260926.5_Missense_Mutation_p.H108D	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	108					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAGAGCTGTGAGAATACCCC	0.502																																					Colon(30;262 767 11040 24421 36230)												0													72.0	73.0	72.0					2																	200298085		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.322C>G	2.37:g.200298085G>C	ENSP00000401112:p.His108Asp		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.H108D	ENST00000417098.1	37	c.322	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075971	0.76415	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.85130	0.95;0.997	T	0.61628	-0.7024	10	0.44086	T	0.13	-22.0289	20.1606	0.98132	0.0:0.0:1.0:0.0	.	108;108	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	D	108	ENSP00000401112:H108D;ENSP00000260926:H108D;ENSP00000388581:H108D;ENSP00000405420:H108D	ENSP00000260926:H108D	H	-	1	0	SATB2	200006330	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.869000	0.99810	2.772000	0.95346	0.650000	0.86243	CAC	SATB2	-	NULL		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	G	NM_015265		200298085	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	missense	SNP	1.000	C
SCAF4	57466	genome.wustl.edu	37	21	33065777	33065777	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:33065777G>C	ENST00000286835.7	-	12	1725	c.1343C>G	c.(1342-1344)tCt>tGt	p.S448C	SCAF4_ENST00000434667.3_Missense_Mutation_p.S433C|SCAF4_ENST00000399804.1_Missense_Mutation_p.S448C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	448						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCAGATCTAGATCGCCTCCT	0.433																																																	0													88.0	65.0	73.0					21																	33065777		2203	4300	6503	SO:0001583	missense	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1343C>G	21.37:g.33065777G>C	ENSP00000286835:p.Ser448Cys		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.S448C	ENST00000286835.7	37	c.1343	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112542	0.77210	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.31769	1.48;1.48;1.48	5.2	5.2	0.72013	.	0.071014	0.64402	D	0.000016	T	0.58293	0.2112	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.61884	-0.6971	10	0.62326	D	0.03	-25.4438	18.7325	0.91741	0.0:0.0:1.0:0.0	.	433;448;448;448	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	C	433;448;448	ENSP00000402377:S433C;ENSP00000286835:S448C;ENSP00000382703:S448C	ENSP00000286835:S448C	S	-	2	0	SCAF4	31987648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.808000	0.99193	2.413000	0.81919	0.557000	0.71058	TCT	SCAF4	-	NULL		0.433	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	G	XM_047889		33065777	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	missense	SNP	1.000	C
SCGB1D2	10647	genome.wustl.edu	37	11	62010802	62010802	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:62010802G>C	ENST00000244926.3	+	2	195	c.97G>C	c.(97-99)Gac>Cac	p.D33H	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	33						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						TGAGCTGTTAGACTTCTTCTT	0.428																																																	0													131.0	127.0	128.0					11																	62010802		2202	4299	6501	SO:0001583	missense	10647			AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"""Secretoglobins"""	18396	protein-coding gene	gene with protein product	"""prostatein-like lipophilin B"", ""lipophilin B (uteroglobin family member), prostatein-like"""	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.97G>C	11.37:g.62010802G>C	ENSP00000244926:p.Asp33His		Q2M3N9	Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.D33H	ENST00000244926.3	37	c.97	CCDS8017.1	11	.	.	.	.	.	.	.	.	.	.	G	3.113	-0.182163	0.06340	.	.	ENSG00000124935	ENST00000244926	T	0.14266	2.52	2.44	-4.87	0.03123	.	2.586340	0.01798	N	0.032731	T	0.08846	0.0219	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.23150	0.044	T	0.19224	-1.0312	9	0.52906	T	0.07	.	0.4767	0.00541	0.417:0.1361:0.1745:0.2724	.	33	O95969	SG1D2_HUMAN	H	33	ENSP00000244926:D33H	ENSP00000244926:D33H	D	+	1	0	SCGB1D2	61767378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.208000	0.00557	-2.264000	0.00689	0.313000	0.20887	GAC	SCGB1D2	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin		0.428	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D2	HGNC	protein_coding	OTTHUMT00000394859.1	G	NM_006551		62010802	+1	no_errors	ENST00000244926	ensembl	human	known	70_37	missense	SNP	0.000	C
SCN10A	6336	genome.wustl.edu	37	3	38781028	38781028	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:38781028G>C	ENST00000449082.2	-	14	2257	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCGCAGCACAGACAGGCTTCC	0.512																																																	0													62.0	57.0	59.0					3																	38781028		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2258C>G	3.37:g.38781028G>C	ENSP00000390600:p.Ser753Cys		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.S753C	ENST00000449082.2	37	c.2258	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347340	0.82022	.	.	ENSG00000185313	ENST00000449082	D	0.97811	-4.55	4.19	4.19	0.49359	Ion transport (1);	0.377447	0.26704	N	0.022928	D	0.98890	0.9624	H	0.96269	3.795	0.48975	D	0.999737	D	0.56746	0.977	P	0.56398	0.797	D	0.99814	1.1043	10	0.87932	D	0	.	16.7073	0.85375	0.0:0.0:1.0:0.0	.	753	Q9Y5Y9	SCNAA_HUMAN	C	753	ENSP00000390600:S753C	ENSP00000390600:S753C	S	-	2	0	SCN10A	38756032	1.000000	0.71417	0.764000	0.31436	0.974000	0.67602	6.432000	0.73400	2.174000	0.68829	0.655000	0.94253	TCT	SCN10A	-	pfam_Ion_trans_dom		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	G	NM_006514		38781028	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN4A	6329	genome.wustl.edu	37	17	62022990	62022990	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:62022990C>T	ENST00000435607.1	-	19	3526	c.3450G>A	c.(3448-3450)gtG>gtA	p.V1150V	SCN4A_ENST00000578147.1_Silent_p.V1150V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1150					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGGGCGTTCACCACCACCT	0.612																																																	0													100.0	106.0	104.0					17																	62022990		2198	4298	6496	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3450G>A	17.37:g.62022990C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1150	ENST00000435607.1	37	c.3450	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom		0.612	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62022990	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	1.000	T
SCN9A	6335	genome.wustl.edu	37	2	167055593	167055593	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:167055593C>T	ENST00000409435.1	-	26	5555	c.5556G>A	c.(5554-5556)gaG>gaA	p.E1852E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.E1853E|SCN9A_ENST00000303354.6_Silent_p.E1853E|SCN9A_ENST00000409672.1_Silent_p.E1841E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1852					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCCCACTCTCACCCAAAA	0.448																																																	0													136.0	141.0	139.0					2																	167055593		2203	4300	6503	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5556G>A	2.37:g.167055593C>T			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1853	ENST00000409435.1	37	c.5559	CCDS46441.1	2																																																																																			SCN9A	-	NULL		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167055593	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	0.013	T
SCNN1D	6339	genome.wustl.edu	37	1	1217634	1217634	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1217634C>G	ENST00000338555.2	+	0	1036				SCNN1D_ENST00000400928.3_5'UTR|SCNN1D_ENST00000325425.8_5'UTR|RP5-902P8.10_ENST00000453732.1_lincRNA|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S97C|SCNN1D_ENST00000467651.2_Intron			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	ctgggtgactccagcatggct	0.597																																																	0													55.0	54.0	54.0					1																	1217634		692	1587	2279	SO:0001623	5_prime_UTR_variant	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.-109C>G	1.37:g.1217634C>G			A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.S97C	ENST00000338555.2	37	c.290		1	.	.	.	.	.	.	.	.	.	.	C	5.517	0.280374	0.10458	.	.	ENSG00000162572	ENST00000379116	T	0.72942	-0.7	2.48	2.48	0.30137	.	.	.	.	.	T	0.64897	0.2640	N	0.08118	0	0.28452	N	0.916285	D	0.76494	0.999	D	0.63703	0.917	T	0.57745	-0.7758	9	0.87932	D	0	.	8.5812	0.33630	0.0:1.0:0.0:0.0	.	97	A6NNF7	.	C	97	ENSP00000368411:S97C	ENSP00000449804:S97C	S	+	2	0	SCNN1D	1207497	0.000000	0.05858	0.010000	0.14722	0.067000	0.16453	0.230000	0.17852	1.701000	0.51217	0.561000	0.74099	TCC	SCNN1D	-	NULL		0.597	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	C	NM_002978		1217634	+1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.010	G
SDR9C7	121214	genome.wustl.edu	37	12	57324159	57324159	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:57324159C>G	ENST00000293502.1	-	2	554	c.411G>C	c.(409-411)ctG>ctC	p.L137L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	137					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCACTTCGATCAGTCCCACCA	0.562																																																	0													140.0	125.0	130.0					12																	57324159		2203	4300	6503	SO:0001819	synonymous_variant	121214			AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.411G>C	12.37:g.57324159C>G			B3KVB4	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L137	ENST00000293502.1	37	c.411	CCDS8926.1	12																																																																																			SDR9C7	-	pfam_DH_sc/Rdtase_SDR		0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR9C7	HGNC	protein_coding	OTTHUMT00000411211.1	C	NM_148897		57324159	-1	no_errors	ENST00000293502	ensembl	human	known	70_37	silent	SNP	0.941	G
SDS	10993	genome.wustl.edu	37	12	113836322	113836322	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:113836322G>C	ENST00000257549.4	-	5	545	c.423C>G	c.(421-423)atC>atG	p.I141M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	141					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CCACATACCAGATGAGGGGGT	0.547																																																	0													47.0	48.0	48.0					12																	113836322		2203	4300	6503	SO:0001583	missense	10993			J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.423C>G	12.37:g.113836322G>C	ENSP00000257549:p.Ile141Met		A8K9P5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.I141M	ENST00000257549.4	37	c.423	CCDS9169.1	12	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558553	0.65538	.	.	ENSG00000135094;ENSG00000135094;ENSG00000257606	ENST00000257549;ENST00000446302;ENST00000547342	D	0.96992	-4.2	4.34	4.34	0.51931	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.181112	0.45606	D	0.000346	D	0.97514	0.9186	M	0.88704	2.975	0.44946	D	0.997968	P;P	0.48834	0.916;0.916	P;P	0.57283	0.817;0.817	D	0.97688	1.0177	10	0.87932	D	0	-9.7979	9.0109	0.36139	0.0:0.1588:0.6777:0.1635	.	141;141	Q8WW81;P20132	.;SDHL_HUMAN	M	141;141;235	ENSP00000257549:I141M	ENSP00000449061:I235M	I	-	3	3	SDS;RP11-303O9.2	112320705	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.586000	0.53950	2.246000	0.74042	0.555000	0.69702	ATC	SDS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF		0.547	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDS	HGNC	protein_coding	OTTHUMT00000404790.1	G	NM_006843		113836322	-1	no_errors	ENST00000257549	ensembl	human	known	70_37	missense	SNP	1.000	C
SEC14L4	284904	genome.wustl.edu	37	22	30885864	30885864	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:30885864C>G	ENST00000255858.7	-	0	1534				RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_3'UTR|SEC14L4_ENST00000392772.2_3'UTR|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site_p.*361Y	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CAGCCGCATTCTCTGGGAACA	0.547																																																	0													160.0	136.0	143.0					22																	30885864		692	1591	2283	SO:0001624	3_prime_UTR_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.*230G>C	22.37:g.30885864C>G			A5D6W7|A6NCV4	Nonstop_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.*361Y	ENST00000255858.7	37	c.1083	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	C	1.727	-0.495158	0.04322	.	.	ENSG00000133488	ENST00000381982	.	.	.	2.46	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5328	0.16995	0.0:0.8368:0.0:0.1632	.	.	.	.	Y	361	.	.	X	-	3	2	SEC14L4	29215864	0.001000	0.12720	0.092000	0.20876	0.020000	0.10135	0.620000	0.24403	0.610000	0.30035	0.467000	0.42956	TAG	SEC14L4	-	NULL		0.547	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30885864	-1	no_errors	ENST00000381982	ensembl	human	putative	70_37	nonstop	SNP	0.262	G
SEC16A	9919	genome.wustl.edu	37	9	139357926	139357926	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139357926T>C	ENST00000371706.3	-	9	4135	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	SEC16A_ENST00000290037.6_Missense_Mutation_p.R1368G|SEC16A_ENST00000431893.2_Missense_Mutation_p.R1368G|SEC16A_ENST00000313050.7_Missense_Mutation_p.R1546G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1368					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCATTTTGTCTGCATAAGAGA	0.398																																																	0													82.0	81.0	81.0					9																	139357926		1861	4098	5959	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4102A>G	9.37:g.139357926T>C	ENSP00000360771:p.Arg1368Gly		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.R1546G	ENST00000371706.3	37	c.4636		9	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612818	0.46631	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.94	4.78	0.61160	.	0.044485	0.85682	D	0.000000	T	0.66336	0.2779	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.91635	0.985;0.998;0.995;0.999	T	0.70110	-0.4962	10	0.66056	D	0.02	-25.3132	11.3471	0.49567	0.0:0.0:0.2902:0.7098	.	1546;1368;1368;936	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	G	1546;268;1368;1368;1368;936	ENSP00000325827:R1546G;ENSP00000403525:R268G;ENSP00000360771:R1368G;ENSP00000290037:R1368G;ENSP00000387583:R1368G	ENSP00000290037:R1368G	R	-	1	2	SEC16A	138477747	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	1.196000	0.32198	1.035000	0.39972	0.528000	0.53228	AGA	SEC16A	-	NULL		0.398	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	T	XM_088459		139357926	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	C
SEC16A	9919	genome.wustl.edu	37	9	139368804	139368804	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139368804G>A	ENST00000371706.3	-	1	2763	c.2730C>T	c.(2728-2730)ccC>ccT	p.P910P	SEC16A_ENST00000290037.6_Silent_p.P910P|SEC16A_ENST00000431893.2_Silent_p.P910P|SEC16A_ENST00000313050.7_Silent_p.P1088P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	910					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCCCTGTGCGGGCAGACTTT	0.607																																																	0													21.0	25.0	24.0					9																	139368804		2012	4177	6189	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2730C>T	9.37:g.139368804G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.P1088	ENST00000371706.3	37	c.3264		9																																																																																			SEC16A	-	NULL		0.607	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139368804	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.000	A
SEC16A	9919	genome.wustl.edu	37	9	139369984	139369984	+	Missense_Mutation	SNP	G	G	A	rs368747402		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139369984G>A	ENST00000371706.3	-	1	1583	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	SEC16A_ENST00000290037.6_Missense_Mutation_p.P517L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P517L|SEC16A_ENST00000313050.7_Missense_Mutation_p.P695L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	517					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCAAGGGCGGTGCCCCTGC	0.622																																																	0								G	LEU/PRO	0,4030		0,0,2015	31.0	36.0	34.0		2084	2.3	0.0	9		34	1,8335		0,1,4167	no	missense	SEC16A	NM_014866.1	98	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	695/2358	139369984	1,12365	2015	4168	6183	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1550C>T	9.37:g.139369984G>A	ENSP00000360771:p.Pro517Leu		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P695L	ENST00000371706.3	37	c.2084		9	.	.	.	.	.	.	.	.	.	.	G	7.361	0.624823	0.14193	0.0	1.2E-4	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.19	2.33	0.28932	.	0.332135	0.31495	N	0.007541	T	0.30417	0.0764	M	0.66939	2.045	0.09310	N	0.999998	B;B;B;B	0.18968	0.014;0.023;0.023;0.032	B;B;B;B	0.12156	0.003;0.007;0.007;0.004	T	0.30416	-0.9979	10	0.87932	D	0	-3.6166	9.5682	0.39411	0.2301:0.0:0.7699:0.0	.	695;517;517;322	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	L	695;517;517;517;322	ENSP00000325827:P695L;ENSP00000360771:P517L;ENSP00000290037:P517L;ENSP00000387583:P517L	ENSP00000290037:P517L	P	-	2	0	SEC16A	138489805	0.027000	0.19231	0.000000	0.03702	0.049000	0.14656	1.277000	0.33167	0.290000	0.22444	0.650000	0.86243	CCG	SEC16A	-	NULL		0.622	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	G	XM_088459		139369984	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	0.000	A
SEPT3	55964	genome.wustl.edu	37	22	42385672	42385672	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:42385672C>G	ENST00000396426.3	+	6	908	c.653C>G	c.(652-654)tCt>tGt	p.S218C	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_Missense_Mutation_p.S218C|SEPT3_ENST00000406029.1_Missense_Mutation_p.S154C|SEPT3_ENST00000291236.11_Missense_Mutation_p.S154C	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	218	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GAGGAGAAGTCTGAATTCAAG	0.517																																																	0													144.0	118.0	127.0					22																	42385672		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.653C>G	22.37:g.42385672C>G	ENSP00000379704:p.Ser218Cys		B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.S218C	ENST00000396426.3	37	c.653	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209098	0.39003	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.21	3.1	0.35709	.	0.290655	0.36234	N	0.002703	T	0.41719	0.1171	L	0.32530	0.975	0.58432	D	0.999996	B;B;B;B	0.32425	0.371;0.002;0.115;0.371	B;B;B;P	0.44597	0.248;0.021;0.16;0.454	T	0.20405	-1.0276	9	.	.	.	.	8.1703	0.31252	0.0:0.7271:0.1372:0.1357	.	154;154;218;218	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	C	218;154;218;154	ENSP00000379704:S218C;ENSP00000383956:S154C;ENSP00000379703:S218C;ENSP00000291236:S154C	.	S	+	2	0	SEPT3	40715618	0.004000	0.15560	0.998000	0.56505	0.994000	0.84299	0.113000	0.15499	1.337000	0.45525	-0.150000	0.13652	TCT	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.517	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	C	NM_145734		42385672	+1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	0.738	G
SERHL	94009	genome.wustl.edu	37	22	42896607	42896607	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:42896607G>C	ENST00000359906.2	+	0	12					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						GGAACTGCAGGATACACTCCC	0.692																																																	0													23.0	26.0	25.0					22																	42896607		692	1591	2283			94009			AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42896607G>C			Q5JZ95|Q9UH21	RNA	SNP	-	NULL	ENST00000359906.2	37	NULL		22																																																																																			SERHL	-	-		0.692	SERHL-001	KNOWN	basic	antisense	SERHL	HGNC	processed_transcript	OTTHUMT00000320498.2	G	NM_170694		42896607	+1	no_errors	ENST00000359906	ensembl	human	known	70_37	rna	SNP	0.000	C
SERP2	387923	genome.wustl.edu	37	13	44948221	44948221	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:44948221G>A	ENST00000379179.3	+	1	244	c.60G>A	c.(58-60)caG>caA	p.Q20Q		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	20					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ACATCACCCAGAGGGGGAACG	0.662																																																	0													65.0	51.0	55.0					13																	44948221		2201	4300	6501	SO:0001819	synonymous_variant	387923			BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 21"""	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.60G>A	13.37:g.44948221G>A				Silent	SNP	pfam_ER_stress-assoc_Ramp4	p.Q20	ENST00000379179.3	37	c.60	CCDS31965.1	13																																																																																			SERP2	-	pfam_ER_stress-assoc_Ramp4		0.662	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP2	HGNC	protein_coding	OTTHUMT00000044736.1	G	NM_001010897		44948221	+1	no_errors	ENST00000493476	ensembl	human	known	70_37	silent	SNP	1.000	A
SERPINA10	51156	genome.wustl.edu	37	14	94756366	94756366	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:94756366C>G	ENST00000393096.1	-	2	1030	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	SERPINA10_ENST00000554173.1_Missense_Mutation_p.E189Q|SERPINA10_ENST00000554723.1_Missense_Mutation_p.E229Q|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E189Q	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	189					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCACGCACTCTGTATCAAAA	0.428																																																	0													87.0	89.0	88.0					14																	94756366		2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.565G>C	14.37:g.94756366C>G	ENSP00000376809:p.Glu189Gln		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E189Q	ENST00000393096.1	37	c.565	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	8.831	0.939865	0.18281	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.02	1.01	0.19927	Serpin domain (3);	0.177406	0.37304	N	0.002141	T	0.81399	0.4814	M	0.87180	2.865	0.09310	N	0.999996	P	0.47962	0.903	B	0.34138	0.176	T	0.75136	-0.3424	10	0.87932	D	0	.	6.5934	0.22659	0.0:0.6501:0.1295:0.2204	.	189	Q9UK55	ZPI_HUMAN	Q	229;189;189;189	ENSP00000450896:E229Q;ENSP00000376809:E189Q;ENSP00000261994:E189Q;ENSP00000450971:E189Q	ENSP00000261994:E189Q	E	-	1	0	SERPINA10	93826119	0.389000	0.25205	0.000000	0.03702	0.250000	0.25880	2.084000	0.41625	0.135000	0.18707	0.313000	0.20887	GAG	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.428	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	C	NM_016186		94756366	-1	no_errors	ENST00000261994	ensembl	human	known	70_37	missense	SNP	0.071	G
SERPINB9	5272	genome.wustl.edu	37	6	2900832	2900832	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:2900832G>C	ENST00000380698.4	-	2	103	c.14C>G	c.(13-15)tCt>tGt	p.S5C		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	5					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ACTTGCATTAGAAAGAGTTTC	0.443																																																	0													175.0	171.0	172.0					6																	2900832		2203	4300	6503	SO:0001583	missense	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.14C>G	6.37:g.2900832G>C	ENSP00000370074:p.Ser5Cys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.S5C	ENST00000380698.4	37	c.14	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353947	0.24512	.	.	ENSG00000170542	ENST00000380698	D	0.83837	-1.77	5.37	1.12	0.20585	Serpin domain (1);	0.581714	0.19492	N	0.112963	T	0.65984	0.2744	M	0.65320	2	0.09310	N	0.999999	B	0.32731	0.382	B	0.32864	0.154	T	0.58831	-0.7567	10	0.41790	T	0.15	.	10.9609	0.47385	0.0:0.5192:0.2594:0.2214	.	5	P50453	SPB9_HUMAN	C	5	ENSP00000370074:S5C	ENSP00000370074:S5C	S	-	2	0	SERPINB9	2845831	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.458000	0.21892	0.284000	0.22305	0.655000	0.94253	TCT	SERPINB9	-	superfamily_Serpin_dom		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	G			2900832	-1	no_errors	ENST00000380698	ensembl	human	known	70_37	missense	SNP	0.000	C
SESN3	143686	genome.wustl.edu	37	11	94924717	94924717	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:94924717C>G	ENST00000536441.1	-	3	529	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000278499.2_5'UTR|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.E65Q|SESN3_ENST00000393234.1_Missense_Mutation_p.E65Q	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	65					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GTAGAGTATTCTTCCACAAGA	0.413																																																	0													157.0	136.0	143.0					11																	94924717		2201	4298	6499	SO:0001583	missense	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.193G>C	11.37:g.94924717C>G	ENSP00000441927:p.Glu65Gln		B7Z7P9|Q96AD1	Missense_Mutation	SNP	pfam_PA26	p.E65Q	ENST00000536441.1	37	c.193	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221434	0.58560	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T	0.40756	1.02;1.02;1.02;1.93	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68943	0.961;0.933	T	0.57075	-0.7873	10	0.33141	T	0.24	-6.3528	20.0953	0.97838	0.0:1.0:0.0:0.0	.	65;65	P58005-3;P58005	.;SESN3_HUMAN	Q	65;65;65;42	ENSP00000441927:E65Q;ENSP00000376926:E65Q;ENSP00000407008:E65Q;ENSP00000439580:E42Q	ENSP00000376926:E65Q	E	-	1	0	SESN3	94564365	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.315000	0.65810	2.767000	0.95098	0.655000	0.94253	GAA	SESN3	-	pfam_PA26		0.413	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	C	NM_144665		94924717	-1	no_errors	ENST00000536441	ensembl	human	known	70_37	missense	SNP	1.000	G
SETD5	55209	genome.wustl.edu	37	3	9438177	9438177	+	5'Flank	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:9438177G>C	ENST00000406341.1	+	0	0				SETD5-AS1_ENST00000521708.1_RNA|SETD5-AS1_ENST00000481221.2_RNA|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000520396.1_RNA|SETD5-AS1_ENST00000520447.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|SETD5-AS1_ENST00000469846.2_RNA|SETD5-AS1_ENST00000519043.1_RNA|SETD5_ENST00000402198.1_5'Flank|SETD5-AS1_ENST00000518437.1_RNA|SETD5-AS1_ENST00000480904.2_RNA|SETD5-AS1_ENST00000521267.1_RNA|SETD5-AS1_ENST00000383834.2_RNA|SETD5-AS1_ENST00000522525.1_RNA|SETD5-AS1_ENST00000524210.1_RNA|SETD5_ENST00000402466.1_5'Flank|SETD5-AS1_ENST00000498199.1_RNA|SETD5-AS1_ENST00000494680.2_RNA|SETD5-AS1_ENST00000467069.2_RNA|SETD5-AS1_ENST00000489616.1_RNA			Q9C0A6	SETD5_HUMAN	SET domain containing 5											NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGTTTTTGGAGAACAAGCGCC	0.672																																																	0																																										SO:0001631	upstream_gene_variant	440944			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491		3.37:g.9438177G>C	Exception_encountered		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	RNA	SNP	-	NULL	ENST00000406341.1	37	NULL	CCDS46741.1	3																																																																																			SETD5-AS1	-	-		0.672	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5-AS1	HGNC	protein_coding	OTTHUMT00000318425.1	G	XM_371614		9438177	-1	no_errors	ENST00000383834	ensembl	human	known	70_37	rna	SNP	0.002	C
SFSWAP	6433	genome.wustl.edu	37	12	132249087	132249087	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132249087G>A	ENST00000261674.4	+	12	1948	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SFSWAP_ENST00000541286.1_Missense_Mutation_p.D603N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	603					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCTAGATGATGACAGTGATGA	0.433																																																	0													99.0	83.0	89.0					12																	132249087		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1807G>A	12.37:g.132249087G>A	ENSP00000261674:p.Asp603Asn		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.D603N	ENST00000261674.4	37	c.1807	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.095429	0.94197	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.31769	2.51;1.48;2.44	5.39	5.39	0.77823	.	0.098606	0.85682	D	0.000000	T	0.54143	0.1840	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.48043	-0.9069	10	0.44086	T	0.13	-36.5726	19.5059	0.95116	0.0:0.0:1.0:0.0	.	603;603	F5H6B8;Q12872	.;SFSWA_HUMAN	N	603;396;603	ENSP00000261674:D603N;ENSP00000443045:D396N;ENSP00000437738:D603N	ENSP00000261674:D603N	D	+	1	0	SFSWAP	130815040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.521000	0.90569	2.687000	0.91594	0.561000	0.74099	GAC	SFSWAP	-	NULL		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132249087	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	1.000	A
SFSWAP	6433	genome.wustl.edu	37	12	132249105	132249105	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:132249105G>A	ENST00000261674.4	+	12	1966	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E609K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	609					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGATGATGAAGAAAGCAAAGA	0.433																																																	0													107.0	90.0	96.0					12																	132249105		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1825G>A	12.37:g.132249105G>A	ENSP00000261674:p.Glu609Lys		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E609K	ENST00000261674.4	37	c.1825	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097628	0.76870	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.23754	2.9;1.89;2.9	5.39	5.39	0.77823	.	0.205393	0.50627	D	0.000116	T	0.35566	0.0936	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.55172	0.965;0.97	P;P	0.50970	0.655;0.607	T	0.01930	-1.1245	10	0.18276	T	0.48	-29.8693	19.5059	0.95116	0.0:0.0:1.0:0.0	.	609;609	F5H6B8;Q12872	.;SFSWA_HUMAN	K	609;402;609	ENSP00000261674:E609K;ENSP00000443045:E402K;ENSP00000437738:E609K	ENSP00000261674:E609K	E	+	1	0	SFSWAP	130815058	1.000000	0.71417	0.037000	0.18230	0.993000	0.82548	6.718000	0.74713	2.687000	0.91594	0.561000	0.74099	GAA	SFSWAP	-	NULL		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132249105	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.995	A
SGIP1	84251	genome.wustl.edu	37	1	67139039	67139039	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:67139039G>C	ENST00000371037.4	+	12	713	c.636G>C	c.(634-636)caG>caC	p.Q212H	SGIP1_ENST00000237247.6_Missense_Mutation_p.Q216H|SGIP1_ENST00000371035.3_Missense_Mutation_p.Q169H|SGIP1_ENST00000371036.3_Missense_Mutation_p.Q179H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.Q180H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	212	Pro-rich.			Q -> R (in Ref. 3; CAH18344). {ECO:0000305}.	endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTGATGAACAGAAGACAGAAG	0.353																																																	0													138.0	144.0	142.0					1																	67139039		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.636G>C	1.37:g.67139039G>C	ENSP00000360076:p.Gln212His		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.Q216H	ENST00000371037.4	37	c.648	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688564	0.29962	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05;4.05	5.73	4.82	0.62117	.	0.227351	0.46145	D	0.000303	T	0.01592	0.0051	L	0.36672	1.1	0.22648	N	0.998893	B	0.33379	0.41	B	0.38712	0.28	T	0.47368	-0.9123	10	0.30854	T	0.27	-10.3965	9.8045	0.40783	0.1572:0.0:0.8428:0.0	.	212	Q9BQI5	SGIP1_HUMAN	H	216;180;204;169;215;215;179;212	ENSP00000237247:Q216H;ENSP00000360078:Q180H;ENSP00000410439:Q204H;ENSP00000360074:Q169H;ENSP00000360075:Q179H;ENSP00000360076:Q212H	ENSP00000237247:Q216H	Q	+	3	2	SGIP1	66911627	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.024000	0.49674	1.441000	0.47550	-0.145000	0.13849	CAG	SGIP1	-	NULL		0.353	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67139039	+1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C
SGIP1	84251	genome.wustl.edu	37	1	67160939	67160939	+	Intron	DEL	A	A	-	rs570067011	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:67160939delA	ENST00000371037.4	+	18	1647				SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000435165.2_5'UTR|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTCCTGAACTAAAAAAAAAAA	0.443													|||unknown(HR)	709	0.141573	0.1891	0.1326	5008	,	,		18030	0.0119		0.2575	False		,,,				2504	0.0982																0																																										SO:0001627	intron_variant	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1571-178A>-	1.37:g.67160939delA			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	RNA	DEL	-	NULL	ENST00000371037.4	37	NULL	CCDS30744.1	1																																																																																			SGIP1	-	-		0.443	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	A	NM_032291		67160939	+1	no_errors	ENST00000320161	ensembl	human	putative	70_37	rna	DEL	0.009	-
SGOL2	151246	genome.wustl.edu	37	2	201436969	201436969	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:201436969G>C	ENST00000357799.4	+	7	1998	c.1900G>C	c.(1900-1902)Gat>Cat	p.D634H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	634					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAGGATAATGATAAAGATGT	0.333																																																	0													81.0	85.0	84.0					2																	201436969		1789	3972	5761	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1900G>C	2.37:g.201436969G>C	ENSP00000350447:p.Asp634His		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.D634H	ENST00000357799.4	37	c.1900	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086599	0.36855	.	.	ENSG00000163535	ENST00000357799	T	0.17213	2.29	5.04	0.193	0.15139	.	0.841211	0.10402	N	0.679018	T	0.12518	0.0304	L	0.38175	1.15	0.21627	N	0.999611	B;B;B	0.21071	0.051;0.051;0.051	B;B;B	0.21917	0.037;0.037;0.037	T	0.32402	-0.9908	10	0.56958	D	0.05	-0.461	4.6159	0.12427	0.3697:0.2869:0.3434:0.0	.	634;634;634	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	634	ENSP00000350447:D634H	ENSP00000350447:D634H	D	+	1	0	SGOL2	201145214	0.000000	0.05858	0.002000	0.10522	0.857000	0.48899	-0.904000	0.04080	0.122000	0.18314	0.585000	0.79938	GAT	SGOL2	-	NULL		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201436969	+1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.000	C
SGPL1	8879	genome.wustl.edu	37	10	72631650	72631650	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:72631650C>G	ENST00000373202.3	+	11	1166	c.966C>G	c.(964-966)ctC>ctG	p.L322L		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	322					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GAGGCTTCCTCATCGTCTTTA	0.448																																					Colon(151;1054 2458 6676 40971)												0													137.0	128.0	131.0					10																	72631650		2203	4300	6503	SO:0001819	synonymous_variant	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.966C>G	10.37:g.72631650C>G			B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L322	ENST00000373202.3	37	c.966	CCDS31216.1	10																																																																																			SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72631650	+1	no_errors	ENST00000373202	ensembl	human	known	70_37	silent	SNP	1.000	G
SGTA	6449	genome.wustl.edu	37	19	2765192	2765192	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:2765192G>C	ENST00000221566.2	-	5	545	c.384C>G	c.(382-384)ttC>ttG	p.F128L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	128					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGTTGCAGAAATAGACGG	0.602																																																	0													98.0	82.0	88.0					19																	2765192		2203	4300	6503	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.384C>G	19.37:g.2765192G>C	ENSP00000221566:p.Phe128Leu		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F128L	ENST00000221566.2	37	c.384	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821551	0.90873	.	.	ENSG00000104969	ENST00000221566	T	0.56444	0.46	4.96	2.83	0.33086	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.238221	0.43110	D	0.000605	T	0.46171	0.1379	L	0.28740	0.885	0.58432	D	0.999992	P	0.37997	0.614	P	0.47915	0.561	T	0.21518	-1.0243	10	0.21540	T	0.41	-18.6958	10.46	0.44575	0.1487:0.0:0.8513:0.0	.	128	O43765	SGTA_HUMAN	L	128	ENSP00000221566:F128L	ENSP00000221566:F128L	F	-	3	2	SGTA	2716192	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.744000	0.55112	2.286000	0.76751	0.655000	0.94253	TTC	SGTA	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.602	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	G	NM_003021		2765192	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	missense	SNP	1.000	C
SH3BP1	23616	genome.wustl.edu	37	22	38046671	38046671	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:38046671C>A	ENST00000357436.4	+	16	1850	c.1537C>A	c.(1537-1539)Ccg>Acg	p.P513T	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.P449T	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	513					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					caccccggctccggctccggc	0.642																																																	0													29.0	32.0	31.0					22																	38046671		2203	4299	6502	SO:0001583	missense	23616				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1537C>A	22.37:g.38046671C>A	ENSP00000350018:p.Pro513Thr		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P513T	ENST00000357436.4	37	c.1537	CCDS13952.2	22	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715528	0.15306	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.17213	2.29	3.12	2.05	0.26809	.	422.883000	0.00447	N	0.000086	T	0.13072	0.0317	L	0.29908	0.895	0.19575	N	0.999962	P;B;B;P	0.38922	0.651;0.421;0.213;0.651	B;B;B;B	0.29785	0.107;0.059;0.031;0.107	T	0.31806	-0.9930	10	0.27785	T	0.31	.	9.6862	0.40100	0.0:0.7854:0.2146:0.0	.	427;449;513;427	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	T	513;427	ENSP00000350018:P513T	ENSP00000350018:P513T	P	+	1	0	SH3BP1	36376617	0.871000	0.30034	0.056000	0.19401	0.013000	0.08279	4.259000	0.58828	0.833000	0.34828	0.655000	0.94253	CCG	SH3BP1	-	NULL		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	C	NM_018957		38046671	+1	no_errors	ENST00000357436	ensembl	human	known	70_37	missense	SNP	0.059	A
LRRC37B	114659	genome.wustl.edu	37	17	30368536	30368536	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:30368536C>G	ENST00000341671.7	+	8	2128				LRRC37B_ENST00000543378.2_Intron|SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000327564.7_Intron|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGCCTCTGCCCAGTGA	0.632																																																	0																																										SO:0001627	intron_variant	6458			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2124-4183C>G	17.37:g.30368536C>G			Q17RC9|Q5YKG6	RNA	SNP	-	NULL	ENST00000341671.7	37	NULL	CCDS32609.1	17																																																																																			SH3GL1P1	-	-		0.632	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1P1	HGNC	protein_coding	OTTHUMT00000446508.1	C	NM_052888		30368536	+1	no_errors	ENST00000579186	ensembl	human	known	70_37	rna	SNP	0.999	G
SH3TC2	79628	genome.wustl.edu	37	5	148422400	148422400	+	Splice_Site	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:148422400C>A	ENST00000515425.1	-	5	487	c.386G>T	c.(385-387)gGc>gTc	p.G129V	SH3TC2_ENST00000538184.1_5'Flank|SH3TC2_ENST00000394358.2_Splice_Site_p.G14V|SH3TC2_ENST00000512049.1_Intron	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	129					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATACGTAGCCTAAGAAGTC	0.428																																																	0													130.0	119.0	123.0					5																	148422400		2203	4300	6503	SO:0001630	splice_region_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.386-1G>T	5.37:g.148422400C>A			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.G129V	ENST00000515425.1	37	c.386	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282488	0.59867	.	.	ENSG00000169247	ENST00000515425;ENST00000394358	D;D	0.96073	-3.9;-3.36	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98162	1.0447	10	0.87932	D	0	.	18.1248	0.89581	0.0:1.0:0.0:0.0	.	14;129	C9JLC3;Q8TF17	.;S3TC2_HUMAN	V	129;14	ENSP00000423660:G129V;ENSP00000377886:G14V	ENSP00000313025:G129V	G	-	2	0	SH3TC2	148402593	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.066000	0.71185	2.597000	0.87782	0.655000	0.94253	GGC	SH3TC2	-	NULL		0.428	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	C	NM_024577	Missense_Mutation	148422400	-1	no_errors	ENST00000515425	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3PXD2B	285590	genome.wustl.edu	37	5	171765890	171765890	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:171765890G>C	ENST00000311601.5	-	13	2389	c.2219C>G	c.(2218-2220)tCt>tGt	p.S740C	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	740	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACGCTCTTAGACACAGGATC	0.612																																																	0													42.0	46.0	45.0					5																	171765890		2203	4300	6503	SO:0001583	missense	285590			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2219C>G	5.37:g.171765890G>C	ENSP00000309714:p.Ser740Cys		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.S740C	ENST00000311601.5	37	c.2219	CCDS34291.1	5	.	.	.	.	.	.	.	.	.	.	G	1.807	-0.475702	0.04414	.	.	ENSG00000174705	ENST00000311601	T	0.61392	0.11	5.42	3.63	0.41609	.	0.511841	0.19546	N	0.111697	T	0.30417	0.0764	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.08229	-1.0732	9	.	.	.	-0.9233	6.3562	0.21402	0.2782:0.0:0.7218:0.0	.	740	A1X283	SPD2B_HUMAN	C	740	ENSP00000309714:S740C	.	S	-	2	0	SH3PXD2B	171698495	0.005000	0.15991	0.002000	0.10522	0.014000	0.08584	1.259000	0.32956	1.287000	0.44583	0.561000	0.74099	TCT	SH3PXD2B	-	NULL		0.612	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1	G	NM_017963		171765890	-1	no_errors	ENST00000311601	ensembl	human	known	70_37	missense	SNP	0.002	C
SHD	56961	genome.wustl.edu	37	19	4284538	4284538	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:4284538C>G	ENST00000543264.2	+	4	2055				SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGACCCCGTCTAGCCACGCC	0.532																																																	0																																										SO:0001627	intron_variant	56961			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.593-240C>G	19.37:g.4284538C>G			Q96NC2	RNA	SNP	-	NULL	ENST00000543264.2	37	NULL	CCDS12125.1	19																																																																																			SHD	-	-		0.532	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	C	NM_020209		4284538	+1	no_errors	ENST00000600475	ensembl	human	known	70_37	rna	SNP	0.000	G
SHF	90525	genome.wustl.edu	37	15	45491047	45491047	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:45491047G>C	ENST00000290894.8	-	2	720	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	CTD-2651B20.7_ENST00000568314.1_RNA|CTD-2651B20.6_ENST00000563103.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.Q133E|RP11-519G16.2_ENST00000560034.1_RNA	NM_138356.2	NP_612365			Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TTCTTCTTCTGTTTTGGCCCA	0.577											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													129.0	129.0	129.0					15																	45491047		1967	4154	6121	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.226C>G	15.37:g.45491047G>C	ENSP00000290894:p.Gln76Glu	932		Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Q133E	ENST00000290894.8	37	c.397	CCDS10120.2	15	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557706	0.27827	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390	T;T	0.31769	1.77;1.48	3.44	1.23	0.21249	.	7739.210000	0.00166	N	0.000000	T	0.20659	0.0497	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.12218	-1.0556	10	0.19147	T	0.46	-0.2098	4.3624	0.11208	0.4985:0.0:0.5015:0.0	.	76	Q7M4L6	SHF_HUMAN	E	76;76;133	ENSP00000290894:Q76E;ENSP00000315978:Q133E	ENSP00000290894:Q76E	Q	-	1	0	SHF	43278339	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	0.190000	0.17057	0.268000	0.21939	0.655000	0.94253	CAG	SHF	-	NULL		0.577	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHF	HGNC	protein_coding	OTTHUMT00000254141.2	G	NM_138356		45491047	-1	no_errors	ENST00000318390	ensembl	human	known	70_37	missense	SNP	0.014	C
SHQ1	55164	genome.wustl.edu	37	3	72890222	72890222	+	Nonsense_Mutation	SNP	G	G	A	rs199551642	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:72890222G>A	ENST00000325599.8	-	4	599	c.460C>T	c.(460-462)Cga>Tga	p.R154*	SHQ1_ENST00000463369.1_Nonsense_Mutation_p.R126*	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	154					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACTCCTGATCGTAAGTTTCCA	0.393																																																	0													180.0	170.0	174.0					3																	72890222		2203	4300	6503	SO:0001587	stop_gained	55164			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.460C>T	3.37:g.72890222G>A	ENSP00000315182:p.Arg154*		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Nonsense_Mutation	SNP	pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R154*	ENST00000325599.8	37	c.460	CCDS33788.1	3	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948476	0.53186	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	.	.	.	5.27	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.2222	16.3736	0.83374	0.0:0.0:0.474:0.526	.	.	.	.	X	154;126;65	.	ENSP00000315182:R154X	R	-	1	2	SHQ1	72972912	0.541000	0.26417	0.007000	0.13788	0.713000	0.41058	1.300000	0.33436	-0.209000	0.10156	-2.944000	0.00085	CGA	SHQ1	-	NULL		0.393	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	HGNC	protein_coding	OTTHUMT00000352310.1	G	NM_018130		72890222	-1	no_errors	ENST00000325599	ensembl	human	known	70_37	nonsense	SNP	0.007	A
SIM2	6493	genome.wustl.edu	37	21	38117369	38117369	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:38117369C>A	ENST00000290399.6	+	10	2121	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	SIM2_ENST00000430056.3_Missense_Mutation_p.S503Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	503	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGCAGCTCGTCTCCAGCTAAA	0.597																																																	0													42.0	36.0	38.0					21																	38117369		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1508C>A	21.37:g.38117369C>A	ENSP00000290399:p.Ser503Tyr		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.S503Y	ENST00000290399.6	37	c.1508	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481214	0.63849	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.47528	0.84;0.84	4.74	4.74	0.60224	Single-minded, C-terminal (2);	3.021220	0.00714	N	0.000843	T	0.71517	0.3349	L	0.54323	1.7	0.33964	D	0.645944	D;D	0.71674	0.998;0.996	D;D	0.73708	0.981;0.967	T	0.60449	-0.7261	10	0.87932	D	0	.	18.1411	0.89639	0.0:1.0:0.0:0.0	.	503;503	Q14190;Q14190-2	SIM2_HUMAN;.	Y	503	ENSP00000290399:S503Y;ENSP00000404176:S503Y	ENSP00000290399:S503Y	S	+	2	0	SIM2	37039239	1.000000	0.71417	0.467000	0.27180	0.566000	0.35808	5.542000	0.67218	2.337000	0.79520	0.558000	0.71614	TCT	SIM2	-	pfam_SIM_C		0.597	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	C	NM_009586		38117369	+1	no_errors	ENST00000290399	ensembl	human	known	70_37	missense	SNP	0.725	A
SKIV2L	6499	genome.wustl.edu	37	6	31929372	31929372	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:31929372C>G	ENST00000375394.2	+	9	951	c.838C>G	c.(838-840)Cag>Gag	p.Q280E	NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q87E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	280					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCTCCATCTCAGGAGCAGTG	0.572																																																	0													99.0	103.0	102.0					6																	31929372		1511	2709	4220	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.838C>G	6.37:g.31929372C>G	ENSP00000364543:p.Gln280Glu		O15005|Q12902|Q15476|Q5ST66	Nonsense_Mutation	SNP	NULL	p.S216*	ENST00000375394.2	37	c.647	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228034	0.79576	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.44482	1.04;0.92	4.76	3.88	0.44766	.	0.406259	0.25698	N	0.028889	T	0.08582	0.0213	N	0.19112	0.55	0.30591	N	0.761546	B	0.06786	0.001	B	0.04013	0.001	T	0.21552	-1.0242	10	0.06625	T	0.88	-21.584	7.7203	0.28729	0.1662:0.7444:0.0:0.0894	.	280	Q15477	SKIV2_HUMAN	E	280;122;87	ENSP00000364543:Q280E;ENSP00000442645:Q87E	ENSP00000364543:Q280E	Q	+	1	0	SKIV2L	32037351	0.560000	0.26570	1.000000	0.80357	0.620000	0.37586	0.762000	0.26503	2.638000	0.89438	0.655000	0.94253	CAG	SKIV2L	-	NULL		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	C			31929372	+1	no_errors	ENST00000461073	ensembl	human	known	70_37	nonsense	SNP	0.999	G
SLAMF7	57823	genome.wustl.edu	37	1	160721404	160721404	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:160721404C>T	ENST00000368043.3	+	5	910				SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7						cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGATTCTCTTCTGTGCAGAAG	0.488																																																	0																																										SO:0001627	intron_variant	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.873+166C>T	1.37:g.160721404C>T			A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	RNA	SNP	-	NULL	ENST00000368043.3	37	NULL	CCDS1209.1	1																																																																																			SLAMF7	-	-		0.488	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	C	NM_021181		160721404	+1	no_errors	ENST00000484221	ensembl	human	known	70_37	rna	SNP	0.008	T
SLC12A5	57468	genome.wustl.edu	37	20	44671866	44671866	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:44671866G>A	ENST00000454036.2	+	9	1259	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D381N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	404					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCCTGGCCGATGGCACTCC	0.567																																																	0													280.0	237.0	251.0					20																	44671866		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1210G>A	20.37:g.44671866G>A	ENSP00000387694:p.Asp404Asn		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D404N	ENST00000454036.2	37	c.1210	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921443	0.33908	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84223	-1.82;-1.81	4.47	4.47	0.54385	.	0.834453	0.10910	N	0.620705	T	0.78698	0.4324	L	0.31578	0.945	0.80722	D	1	B;B	0.30851	0.02;0.297	B;B	0.28709	0.004;0.093	T	0.71192	-0.4665	10	0.22109	T	0.4	.	16.6495	0.85185	0.0:0.0:1.0:0.0	.	404;381	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	404;381	ENSP00000387694:D404N;ENSP00000243964:D381N	ENSP00000243964:D381N	D	+	1	0	SLC12A5	44105273	1.000000	0.71417	0.115000	0.21578	0.143000	0.21401	5.629000	0.67798	2.470000	0.83445	0.462000	0.41574	GAT	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	G			44671866	+1	no_errors	ENST00000454036	ensembl	human	known	70_37	missense	SNP	0.986	A
SLC15A2	6565	genome.wustl.edu	37	3	121631876	121631876	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:121631876C>T	ENST00000489711.1	+	5	825	c.437C>T	c.(436-438)tCa>tTa	p.S146L	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S115L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	146					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGAGTCCTATCATTGATCGGC	0.453																																																	0													327.0	318.0	321.0					3																	121631876		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.437C>T	3.37:g.121631876C>T	ENSP00000417085:p.Ser146Leu		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.S146L	ENST00000489711.1	37	c.437	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742591	0.69418	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	T;T;T	0.40476	1.03;3.87;1.03	6.05	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);	0.116207	0.64402	D	0.000010	T	0.41926	0.1180	L	0.35644	1.08	0.58432	D	0.999999	P;B	0.37398	0.593;0.011	P;B	0.45506	0.483;0.183	T	0.27905	-1.0060	10	0.54805	T	0.06	-6.5566	12.3585	0.55188	0.0:0.9199:0.0:0.0801	.	115;146	B4E2A7;Q16348	.;S15A2_HUMAN	L	146;108;115;84	ENSP00000417085:S146L;ENSP00000295605:S115L;ENSP00000418704:S84L	ENSP00000295605:S115L	S	+	2	0	SLC15A2	123114566	1.000000	0.71417	0.104000	0.21259	0.145000	0.21501	5.750000	0.68712	2.878000	0.98634	0.650000	0.86243	TCA	SLC15A2	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.453	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	C	NM_021082		121631876	+1	no_errors	ENST00000489711	ensembl	human	known	70_37	missense	SNP	0.975	T
SLC15A4	121260	genome.wustl.edu	37	12	129283957	129283957	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:129283957C>G	ENST00000266771.5	-	7	1459	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	SLC15A4_ENST00000545031.1_5'UTR|SLC15A4_ENST00000544112.1_Missense_Mutation_p.E137Q	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	474					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TATGCAAATTCCAGGCCTGAG	0.502																																																	0													65.0	66.0	66.0					12																	129283957		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1420G>C	12.37:g.129283957C>G	ENSP00000266771:p.Glu474Gln		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E474Q	ENST00000266771.5	37	c.1420	CCDS9264.1	12	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542985	0.65198	.	.	ENSG00000139370	ENST00000266771;ENST00000544112	T;T	0.05199	3.48;3.48	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.82630	2.6	0.80722	D	1	P	0.51240	0.943	P	0.61940	0.896	T	0.02037	-1.1225	10	0.66056	D	0.02	.	18.8949	0.92419	0.0:1.0:0.0:0.0	.	474	Q8N697	S15A4_HUMAN	Q	474;137	ENSP00000266771:E474Q;ENSP00000439946:E137Q	ENSP00000266771:E474Q	E	-	1	0	SLC15A4	127849910	1.000000	0.71417	0.956000	0.39512	0.240000	0.25518	7.194000	0.77789	2.442000	0.82660	0.655000	0.94253	GAA	SLC15A4	-	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.502	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A4	HGNC	protein_coding	OTTHUMT00000399663.1	C	NM_145648		129283957	-1	no_errors	ENST00000266771	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC16A9	220963	genome.wustl.edu	37	10	61412606	61412606	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:61412606G>C	ENST00000395348.3	-	6	2090	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S485C	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	485					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TGTATCCCAAGAGGGCAAGGC	0.433																																																	0													81.0	84.0	83.0					10																	61412606		2203	4300	6503	SO:0001583	missense	220963			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1454C>G	10.37:g.61412606G>C	ENSP00000378757:p.Ser485Cys		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S485C	ENST00000395348.3	37	c.1454	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200722	0.01581	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04654	3.58;3.58	5.57	-0.538	0.11868	Major facilitator superfamily domain (1);	0.633900	0.18086	N	0.152134	T	0.01287	0.0042	N	0.00446	-1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46414	-0.9193	10	0.42905	T	0.14	.	7.1702	0.25715	0.3209:0.2907:0.3883:0.0	.	485	Q7RTY1	MOT9_HUMAN	C	485	ENSP00000378757:S485C;ENSP00000378756:S485C	ENSP00000378756:S485C	S	-	2	0	SLC16A9	61082612	0.961000	0.32948	0.001000	0.08648	0.400000	0.30750	0.905000	0.28504	-0.010000	0.14271	-0.157000	0.13467	TCT	SLC16A9	-	pfscan_MFS_dom		0.433	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	G	NM_194298		61412606	-1	no_errors	ENST00000395347	ensembl	human	known	70_37	missense	SNP	0.001	C
SLC1A3	6507	genome.wustl.edu	37	5	36677065	36677065	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:36677065G>C	ENST00000265113.4	+	6	1115	c.639G>C	c.(637-639)gtG>gtC	p.V213V	SLC1A3_ENST00000381918.3_Silent_p.V213V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	213					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGCTGTGATAAACAATG	0.458																																																	0													105.0	95.0	98.0					5																	36677065		2203	4300	6503	SO:0001819	synonymous_variant	6507				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.639G>C	5.37:g.36677065G>C			B2R5T3|Q4JCQ8	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V213	ENST00000265113.4	37	c.639	CCDS3919.1	5																																																																																			SLC1A3	-	pfam_Na-dicarboxylate_symporter		0.458	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	G	NM_004172		36677065	+1	no_errors	ENST00000265113	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC22A15	55356	genome.wustl.edu	37	1	116574045	116574045	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:116574045G>C	ENST00000369503.4	+	6	917	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	263					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)		TGAGGCTGAAGAGGCGCTGTA	0.483																																																	0													91.0	92.0	91.0					1																	116574045		1994	4174	6168	SO:0001583	missense	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.787G>C	1.37:g.116574045G>C	ENSP00000358515:p.Glu263Gln		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E263Q	ENST00000369503.4	37	c.787	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316600	0.23908	.	.	ENSG00000163393	ENST00000369503	T	0.58797	0.31	4.81	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.325722	0.35739	N	0.003012	T	0.23210	0.0561	N	0.20357	0.565	0.80722	D	1	B	0.13145	0.007	B	0.23275	0.045	T	0.07809	-1.0753	10	0.15499	T	0.54	.	13.1473	0.59470	0.0771:0.0:0.9229:0.0	.	263	Q8IZD6	S22AF_HUMAN	Q	263	ENSP00000358515:E263Q	ENSP00000358515:E263Q	E	+	1	0	SLC22A15	116375568	1.000000	0.71417	0.014000	0.15608	0.663000	0.39108	3.208000	0.51114	1.260000	0.44134	0.655000	0.94253	GAG	SLC22A15	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.483	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	G	NM_018420		116574045	+1	no_errors	ENST00000369503	ensembl	human	known	70_37	missense	SNP	0.987	C
SLC22A2	6582	genome.wustl.edu	37	6	160666565	160666565	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:160666565C>G	ENST00000366953.3	-	6	1228	c.970G>C	c.(970-972)Gaa>Caa	p.E324Q	SLC22A2_ENST00000366952.1_Missense_Mutation_p.E303Q|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	324					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GTTTCCTCTTCAAGTCTCAGG	0.393																																																	0													74.0	70.0	71.0					6																	160666565		2203	4300	6503	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.970G>C	6.37:g.160666565C>G	ENSP00000355920:p.Glu324Gln		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E324Q	ENST00000366953.3	37	c.970	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235459	0.22626	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.75050	-0.9;-0.9	5.17	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.431373	0.25978	N	0.027100	T	0.50922	0.1644	L	0.33189	0.99	0.22066	N	0.999388	B;B	0.21520	0.057;0.037	B;B	0.31101	0.082;0.124	T	0.36962	-0.9726	10	0.10902	T	0.67	.	18.8542	0.92244	0.0:1.0:0.0:0.0	.	324;324	O15244;O15244-2	S22A2_HUMAN;.	Q	324;303	ENSP00000355920:E324Q;ENSP00000355919:E303Q	ENSP00000355919:E303Q	E	-	1	0	SLC22A2	160586555	0.197000	0.23362	0.000000	0.03702	0.018000	0.09664	2.206000	0.42779	2.674000	0.91012	0.655000	0.94253	GAA	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.393	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	C	NM_003058		160666565	-1	no_errors	ENST00000366953	ensembl	human	known	70_37	missense	SNP	0.022	G
SLC22A24	283238	genome.wustl.edu	37	11	62871656	62871656	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:62871656C>T	ENST00000417740.1	-	5	1386	c.945G>A	c.(943-945)ctG>ctA	p.L315L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						CCTCAGTGGTCAGTGTCTCTT	0.413																																																	0													262.0	227.0	237.0					11																	62871656		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.945G>A	11.37:g.62871656C>T				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L315	ENST00000417740.1	37	c.945		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	C	NM_173586		62871656	-1	no_errors	ENST00000417740	ensembl	human	putative	70_37	silent	SNP	0.147	T
SLC22A5	6584	genome.wustl.edu	37	5	131714085	131714085	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:131714085G>C	ENST00000245407.3	+	2	630	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	SLC22A5_ENST00000435065.2_Missense_Mutation_p.E161Q	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	137					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CCTGGTGTGTGAGGACGACTG	0.483																																																	0													358.0	357.0	357.0					5																	131714085		2203	4300	6503	SO:0001583	missense	6584			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.409G>C	5.37:g.131714085G>C	ENSP00000245407:p.Glu137Gln		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E161Q	ENST00000245407.3	37	c.481	CCDS4154.1	5	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689162	0.48097	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	D;D;D	0.86366	-2.11;-2.11;-2.11	5.74	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.763972	0.13531	N	0.380921	D	0.85626	0.5740	M	0.73319	2.225	0.30830	N	0.736844	B;B	0.25272	0.122;0.052	B;B	0.31337	0.128;0.082	T	0.79274	-0.1871	10	0.34782	T	0.22	.	8.777	0.34767	0.1266:0.1268:0.7466:0.0	.	161;137	A2Q0V1;O76082	.;S22A5_HUMAN	Q	137;161;60	ENSP00000245407:E137Q;ENSP00000402760:E161Q;ENSP00000388838:E60Q	ENSP00000245407:E137Q	E	+	1	0	SLC22A5	131741984	0.939000	0.31865	1.000000	0.80357	0.996000	0.88848	1.093000	0.30939	0.409000	0.25649	0.561000	0.74099	GAG	SLC22A5	-	pfam_Sub_transporter,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.483	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	G	NM_003060		131714085	+1	no_errors	ENST00000435065	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC25A12	8604	genome.wustl.edu	37	2	172648021	172648021	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:172648021G>C	ENST00000422440.2	-	15	1562	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.L402V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	509					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCATCAGCCAGAAGTAGTTTG	0.423																																																	0													102.0	100.0	101.0					2																	172648021		2203	4300	6503	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1525C>G	2.37:g.172648021G>C	ENSP00000388658:p.Leu509Val		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L509V	ENST00000422440.2	37	c.1525	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852901	0.32699	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	D;D	0.82167	-1.58;-1.58	5.92	3.12	0.35913	Mitochondrial carrier domain (2);	0.202611	0.42821	D	0.000646	T	0.78729	0.4329	L	0.48986	1.54	0.31066	N	0.713519	B;B	0.29612	0.251;0.251	B;B	0.39152	0.213;0.292	T	0.73129	-0.4080	10	0.35671	T	0.21	-3.2759	6.0992	0.20037	0.2544:0.0:0.6248:0.1208	.	402;509	B3KR64;O75746	.;CMC1_HUMAN	V	509;402	ENSP00000388658:L509V;ENSP00000376371:L402V	ENSP00000376371:L402V	L	-	1	2	SLC25A12	172356267	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	1.418000	0.34782	0.385000	0.24970	0.655000	0.94253	CTG	SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom		0.423	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172648021	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	0.213	C
SLC25A16	8034	genome.wustl.edu	37	10	70243195	70243195	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70243195G>C	ENST00000609923.1	-	9	1091	c.993C>G	c.(991-993)ctC>ctG	p.L331L	SLC25A16_ENST00000539557.1_Silent_p.L233L|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	331					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTTTTTAGTTGAGGTGAAAAA	0.348																																																	0													74.0	74.0	74.0					10																	70243195		2203	4300	6503	SO:0001819	synonymous_variant	8034			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.993C>G	10.37:g.70243195G>C			Q8N2U1	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier	p.L331	ENST00000609923.1	37	c.993	CCDS7280.1	10																																																																																			SLC25A16	-	NULL		0.348	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2	G			70243195	-1	no_errors	ENST00000265870	ensembl	human	known	70_37	silent	SNP	0.989	C
SLC25A34	284723	genome.wustl.edu	37	1	16064484	16064484	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:16064484C>G	ENST00000294454.5	+	2	520	c.439C>G	c.(439-441)Cac>Gac	p.H147D	SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	147					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		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;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACAATCACCAGGTGAG	0.642																																																	0													55.0	58.0	57.0					1																	16064484		2202	4300	6502	SO:0001583	missense	284723			BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.439C>G	1.37:g.16064484C>G	ENSP00000294454:p.His147Asp		Q68DV0	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.H147D	ENST00000294454.5	37	c.439	CCDS162.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365885	0.61513	.	.	ENSG00000162461	ENST00000294454	T	0.78246	-1.16	4.45	4.45	0.53987	Mitochondrial carrier domain (2);	0.238263	0.35936	N	0.002881	D	0.86351	0.5912	M	0.82716	2.605	0.58432	D	0.999999	B	0.34313	0.448	P	0.49597	0.616	D	0.88211	0.2890	10	0.72032	D	0.01	.	15.4461	0.75232	0.0:1.0:0.0:0.0	.	147	Q6PIV7	S2534_HUMAN	D	147	ENSP00000294454:H147D	ENSP00000294454:H147D	H	+	1	0	SLC25A34	15937071	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.132000	0.64758	2.293000	0.77203	0.462000	0.41574	CAC	SLC25A34	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.642	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A34	HGNC	protein_coding	OTTHUMT00000008467.1	C	NM_207348		16064484	+1	no_errors	ENST00000294454	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC25A39	51629	genome.wustl.edu	37	17	42397999	42397999	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:42397999G>C	ENST00000377095.5	-	9	911	c.792C>G	c.(790-792)atC>atG	p.I264M	SLC25A39_ENST00000225308.8_Missense_Mutation_p.I256M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.I132M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.I256M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.I241M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	264					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGTCCCTGAGATGCCACCAG	0.597																																																	0													94.0	100.0	98.0					17																	42397999		2203	4300	6503	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.792C>G	17.37:g.42397999G>C	ENSP00000366299:p.Ile264Met		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I264M	ENST00000377095.5	37	c.792	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649121	0.14516	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80909	-1.43;-1.43;-1.43	5.38	4.41	0.53225	Mitochondrial carrier domain (2);	0.377447	0.26196	N	0.025769	T	0.70631	0.3246	L	0.31120	0.905	0.43555	D	0.995862	B;B;B	0.25206	0.12;0.1;0.098	B;B;B	0.32980	0.156;0.071;0.067	T	0.67473	-0.5662	10	0.48119	T	0.1	-27.3952	6.9964	0.24784	0.1525:0.1442:0.7033:0.0	.	241;264;256	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	256;264;241	ENSP00000225308:I256M;ENSP00000366299:I264M;ENSP00000444540:I241M	ENSP00000225308:I256M	I	-	3	3	SLC25A39	39753525	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	0.909000	0.28558	1.502000	0.48669	-0.150000	0.13652	ATC	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.597	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	G	NM_016016		42397999	-1	no_errors	ENST00000377095	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC26A9	115019	genome.wustl.edu	37	1	205890709	205890709	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:205890709G>C	ENST00000367135.3	-	17	2153	c.2040C>G	c.(2038-2040)atC>atG	p.I680M	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I680M|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I680M	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	680	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGGGCCTTGATGCCCATCA	0.617																																																	0													32.0	27.0	28.0					1																	205890709		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2040C>G	1.37:g.205890709G>C	ENSP00000356103:p.Ile680Met		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I680M	ENST00000367135.3	37	c.2040	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070309	0.55539	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.88818	-2.43;-2.43;-2.43	4.43	4.43	0.53597	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.301427	0.29286	N	0.012600	D	0.88306	0.6401	L	0.46741	1.465	0.35098	D	0.764982	P;P	0.50819	0.627;0.939	P;P	0.53006	0.5;0.715	D	0.89471	0.3743	10	0.34782	T	0.22	.	10.2509	0.43368	0.0:0.1441:0.7079:0.148	.	680;680	Q7LBE3;B1AVM8	S26A9_HUMAN;.	M	680	ENSP00000341682:I680M;ENSP00000356103:I680M;ENSP00000356102:I680M	ENSP00000341682:I680M	I	-	3	3	SLC26A9	204157332	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.955000	0.29188	2.396000	0.81511	0.655000	0.94253	ATC	SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.617	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	G	NM_052934		205890709	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC35C1	55343	genome.wustl.edu	37	11	45832868	45832868	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:45832868G>C	ENST00000314134.3	+	2	2473	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N	CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000456334.1_Missense_Mutation_p.K346N|SLC35C1_ENST00000442528.2_Missense_Mutation_p.K346N	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	359					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		ACAGCGAGAAGAGCGCCATGG	0.672																																																	0													8.0	10.0	10.0					11																	45832868		2187	4283	6470	SO:0001583	missense	55343				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.1077G>C	11.37:g.45832868G>C	ENSP00000313318:p.Lys359Asn		B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA,pfam_DMT	p.K359N	ENST00000314134.3	37	c.1077	CCDS7914.1	11	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867806	0.32977	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000314134	T;T;T	0.67865	-0.25;-0.25;-0.29	5.75	2.86	0.33363	.	0.232730	0.49305	D	0.000145	T	0.53351	0.1791	L	0.44542	1.39	0.43039	D	0.994628	B	0.29988	0.264	B	0.25506	0.061	T	0.48864	-0.8997	10	0.33141	T	0.24	-29.7048	9.5839	0.39504	0.3298:0.0:0.6702:0.0	.	359	Q96A29	FUCT1_HUMAN	N	346;346;359	ENSP00000412408:K346N;ENSP00000399779:K346N;ENSP00000313318:K359N	ENSP00000313318:K359N	K	+	3	2	SLC35C1	45789444	1.000000	0.71417	0.989000	0.46669	0.095000	0.18619	1.549000	0.36212	0.781000	0.33589	0.563000	0.77884	AAG	SLC35C1	-	NULL		0.672	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	G	NM_018389		45832868	+1	no_errors	ENST00000314134	ensembl	human	known	70_37	missense	SNP	0.659	C
SLC38A9	153129	genome.wustl.edu	37	5	55008344	55008344	+	5'UTR	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:55008344G>T	ENST00000396865.2	-	0	210				SLC38A9_ENST00000504880.1_5'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CCAGGTGGGCGAGTCCAGTCG	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	153129				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.-382C>A	5.37:g.55008344G>T			B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	RNA	SNP	-	NULL	ENST00000396865.2	37	NULL	CCDS3968.1	5																																																																																			SLC38A9	-	-		0.652	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	G	NM_173514		55008344	-1	no_errors	ENST00000504880	ensembl	human	known	70_37	rna	SNP	0.000	T
SLC44A5	204962	genome.wustl.edu	37	1	75699774	75699774	+	Silent	SNP	C	C	G	rs201160398		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:75699774C>G	ENST00000370855.5	-	12	863	c.750G>C	c.(748-750)acG>acC	p.T250T	SLC44A5_ENST00000370859.3_Silent_p.T250T|SLC44A5_ENST00000535611.1_Silent_p.T120T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	250					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCATGGCAATCGTCAGGCCAC	0.378																																																	0													97.0	96.0	96.0					1																	75699774		2203	4300	6503	SO:0001819	synonymous_variant	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.750G>C	1.37:g.75699774C>G			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	pfam_Choline_transptr-like	p.T250	ENST00000370855.5	37	c.750	CCDS667.1	1																																																																																			SLC44A5	-	NULL		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	C	NM_152697		75699774	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	silent	SNP	0.000	G
SLC39A1	27173	genome.wustl.edu	37	1	153935074	153935074	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:153935074G>A	ENST00000368623.3	-	1	877	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	SLC39A1_ENST00000368621.1_Missense_Mutation_p.L40F|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L40F|SLC39A1_ENST00000537590.1_5'UTR|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L40F|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	40					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGGAGGGTGAGCACCAGCAGC	0.647																																																	0													39.0	46.0	44.0					1																	153935074		2203	4300	6503	SO:0001583	missense	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.118C>T	1.37:g.153935074G>A	ENSP00000357612:p.Leu40Phe		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	pfam_ZIP	p.L40F	ENST00000368623.3	37	c.118	CCDS1055.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585091	0.86748	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.98	4.98	0.66077	.	0.090050	0.45867	D	0.000326	T	0.49729	0.1574	L	0.41573	1.285	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.40478	-0.9561	10	0.08837	T	0.75	-15.273	15.7832	0.78281	0.0:0.0:1.0:0.0	.	40	Q9NY26	S39A1_HUMAN	F	40;40;40;40;29;40;40;40	ENSP00000348535:L40F;ENSP00000357612:L40F;ENSP00000357610:L40F;ENSP00000309710:L40F;ENSP00000392950:L40F;ENSP00000392229:L40F;ENSP00000407717:L40F	ENSP00000309710:L40F	L	-	1	0	SLC39A1	152201698	0.918000	0.31147	1.000000	0.80357	0.972000	0.66771	1.287000	0.33284	2.588000	0.87417	0.561000	0.74099	CTC	SLC39A1	-	pfam_ZIP		0.647	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A1	HGNC	protein_coding	OTTHUMT00000090284.1	G	NM_014437		153935074	-1	no_errors	ENST00000310483	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC4A3	6508	genome.wustl.edu	37	2	220502342	220502342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220502342G>T	ENST00000358055.3	+	17	3087	c.2575G>T	c.(2575-2577)Gag>Tag	p.E859*	SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.E859*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.E886*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.E886*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.E859*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	859	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTACCCCCCTGAGGGGGCCCT	0.637																																																	0													29.0	33.0	32.0					2																	220502342		2203	4300	6503	SO:0001587	stop_gained	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2575G>T	2.37:g.220502342G>T	ENSP00000350756:p.Glu859*		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E886*	ENST00000358055.3	37	c.2656	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.523230	0.98335	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	.	.	.	2.58	2.58	0.30949	.	0.752644	0.12116	N	0.498106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.7369	0.34534	0.0:0.0:1.0:0.0	.	.	.	.	X	859;859;886;886;122;859	.	ENSP00000273063:E886X	E	+	1	0	SLC4A3	220210586	0.829000	0.29322	0.944000	0.38274	0.619000	0.37552	3.216000	0.51176	1.434000	0.47414	0.551000	0.68910	GAG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220502342	+1	no_errors	ENST00000273063	ensembl	human	known	70_37	nonsense	SNP	0.025	T
SLC4A3	6508	genome.wustl.edu	37	2	220502408	220502408	+	Nonsense_Mutation	SNP	G	G	T	rs140581019		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220502408G>T	ENST00000358055.3	+	17	3153	c.2641G>T	c.(2641-2643)Gag>Tag	p.E881*	SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.E881*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.E908*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.E908*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.E881*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	881	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCCCACCGAGGGCCCCCC	0.647																																																	0													51.0	43.0	46.0					2																	220502408		2203	4300	6503	SO:0001587	stop_gained	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2641G>T	2.37:g.220502408G>T	ENSP00000350756:p.Glu881*		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E908*	ENST00000358055.3	37	c.2722	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.059174	0.97246	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	.	.	.	4.54	3.66	0.41972	.	0.211480	0.23724	N	0.045192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	7.4383	0.27169	0.0856:0.0:0.7499:0.1645	.	.	.	.	X	881;881;908;908;141;881	.	ENSP00000273063:E908X	E	+	1	0	SLC4A3	220210652	0.996000	0.38824	0.981000	0.43875	0.295000	0.27426	2.442000	0.44873	1.286000	0.44565	0.551000	0.68910	GAG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	G	NM_005070		220502408	+1	no_errors	ENST00000273063	ensembl	human	known	70_37	nonsense	SNP	0.008	T
SLC4A4	8671	genome.wustl.edu	37	4	72319242	72319242	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:72319242G>C	ENST00000264485.5	+	12	1470	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.K407N|SLC4A4_ENST00000340595.3_Missense_Mutation_p.K407N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.K451N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K451N	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	451					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AAGACATAAAGAGGAAAGCGC	0.348																																																	0													189.0	192.0	191.0					4																	72319242		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1353G>C	4.37:g.72319242G>C	ENSP00000264485:p.Lys451Asn		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.K451N	ENST00000264485.5	37	c.1353	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871172	0.72065	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.03	6.03	0.97812	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.993;0.99;0.976;0.997	D;D;D;P;D;D	0.85130	0.987;0.997;0.927;0.864;0.93;0.981	D	0.93900	0.7187	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	451;451;407;407;431;451	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	N	451;451;451;407;407	ENSP00000264485:K451N;ENSP00000393557:K451N;ENSP00000307349:K451N;ENSP00000422400:K407N;ENSP00000344272:K407N	ENSP00000264485:K451N	K	+	3	2	SLC4A4	72538106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.618000	0.46393	2.861000	0.98227	0.655000	0.94253	AAG	SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.348	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72319242	+1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC4A4	8671	genome.wustl.edu	37	4	72412243	72412243	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:72412243G>A	ENST00000264485.5	+	19	2736	c.2619G>A	c.(2617-2619)gtG>gtA	p.V873V	SLC4A4_ENST00000340595.3_Silent_p.V829V|SLC4A4_ENST00000425175.1_Silent_p.V873V|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	873					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTCTAGGAGTGAGGTGTGTTA	0.473																																																	0													69.0	57.0	61.0					4																	72412243		2203	4300	6503	SO:0001819	synonymous_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2619G>A	4.37:g.72412243G>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.V873	ENST00000264485.5	37	c.2619	CCDS43236.1	4																																																																																			SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.473	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	G	NM_003759		72412243	+1	no_errors	ENST00000425175	ensembl	human	known	70_37	silent	SNP	0.988	A
SLC52A3	113278	genome.wustl.edu	37	20	741808	741808	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:741808G>C	ENST00000217254.7	-	5	1513	c.1272C>G	c.(1270-1272)ctC>ctG	p.L424L	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_3'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	424					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CGCTGCGGCTGAGGTCGCGCA	0.682																																																	0													10.0	11.0	10.0					20																	741808		2164	4254	6418	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.1272C>G	20.37:g.741808G>C			A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.L424	ENST00000217254.7	37	c.1272	CCDS13007.1	20																																																																																			SLC52A3	-	NULL		0.682	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	G	NM_033409		741808	-1	no_errors	ENST00000217254	ensembl	human	known	70_37	silent	SNP	0.000	C
SLC5A2	6524	genome.wustl.edu	37	16	31500333	31500333	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:31500333C>T	ENST00000330498.3	+	11	1432	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	471					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCGCCGTCTTCGTGCTGGCGC	0.662																																																	0													34.0	34.0	34.0					16																	31500333		2197	4299	6496	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1413C>T	16.37:g.31500333C>T			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F471	ENST00000330498.3	37	c.1413	CCDS10714.1	16																																																																																			SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31500333	+1	no_errors	ENST00000330498	ensembl	human	known	70_37	silent	SNP	0.238	T
SLC6A13	6540	genome.wustl.edu	37	12	369036	369036	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:369036G>C	ENST00000343164.4	-	2	235	c.183C>G	c.(181-183)ctC>ctG	p.L61L	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Silent_p.L61L|SLC6A13_ENST00000436453.1_Silent_p.L61L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	61					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTTGTAGCAGAGATAGGGAA	0.572																																																	0													165.0	148.0	154.0					12																	369036		2203	4300	6503	SO:0001819	synonymous_variant	6540			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.183C>G	12.37:g.369036G>C			B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L61	ENST00000343164.4	37	c.183	CCDS8502.1	12																																																																																			SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.572	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	G	NM_016615		369036	-1	no_errors	ENST00000343164	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC6A5	9152	genome.wustl.edu	37	11	20657923	20657923	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:20657923C>T	ENST00000525748.1	+	11	1968	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	565					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCTGGGCCATCATCTTTTTCC	0.527																																																	0													176.0	141.0	153.0					11																	20657923		2203	4300	6503	SO:0001819	synonymous_variant	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1695C>T	11.37:g.20657923C>T			O95288|Q4VAM7|Q9BX77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.I565	ENST00000525748.1	37	c.1695	CCDS7854.1	11																																																																																			SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.527	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	C	NM_004211		20657923	+1	no_errors	ENST00000525748	ensembl	human	known	70_37	silent	SNP	0.989	T
SLC6A7	6534	genome.wustl.edu	37	5	149576289	149576289	+	Silent	SNP	C	C	A	rs2229414	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:149576289C>A	ENST00000230671.2	+	3	599	c.228C>A	c.(226-228)ctC>ctA	p.L76L	SLC6A7_ENST00000524041.1_Silent_p.L76L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	76					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCGCCTTCCTCGTGCCCTACT	0.677																																																	0													82.0	98.0	92.0					5																	149576289		2203	4300	6503	SO:0001819	synonymous_variant	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.228C>A	5.37:g.149576289C>A			Q0VG81|Q52LU6	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L76	ENST00000230671.2	37	c.228	CCDS4305.1	5																																																																																			SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.677	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	C	NM_014228		149576289	+1	no_errors	ENST00000230671	ensembl	human	known	70_37	silent	SNP	0.576	A
SLC6A7	6534	genome.wustl.edu	37	5	149581972	149581972	+	Silent	SNP	C	C	G	rs151201537	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:149581972C>G	ENST00000230671.2	+	7	1292	c.921C>G	c.(919-921)ctC>ctG	p.L307L	SLC6A7_ENST00000524041.1_Silent_p.L307L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	307					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GGGGGCTCCTCACCTTTGCCT	0.582																																																	0													114.0	122.0	119.0					5																	149581972		2203	4300	6503	SO:0001819	synonymous_variant	6534			S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.921C>G	5.37:g.149581972C>G			Q0VG81|Q52LU6	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L307	ENST00000230671.2	37	c.921	CCDS4305.1	5																																																																																			SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.582	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	C	NM_014228		149581972	+1	no_errors	ENST00000230671	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC7A5	8140	genome.wustl.edu	37	16	87872349	87872349	+	Silent	SNP	G	G	A	rs111715445		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:87872349G>A	ENST00000261622.4	-	6	1079	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Silent_p.S72S	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	338					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ACCCATTGACGGAGCCGAAGC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18233	0.0		0.0	False		,,,				2504	0.0																0													183.0	152.0	162.0					16																	87872349		2198	4300	6498	SO:0001819	synonymous_variant	8140			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1014C>T	16.37:g.87872349G>A			Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.S338	ENST00000261622.4	37	c.1014	CCDS10964.1	16																																																																																			SLC7A5	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.607	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2	G	NM_003486		87872349	-1	no_errors	ENST00000261622	ensembl	human	known	70_37	silent	SNP	0.014	A
SLC9B2	133308	genome.wustl.edu	37	4	103987634	103987634	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:103987634C>G	ENST00000394785.3	-	3	752	c.121G>C	c.(121-123)Gat>Cat	p.D41H	SLC9B2_ENST00000362026.3_Missense_Mutation_p.D41H|SLC9B2_ENST00000503103.1_Missense_Mutation_p.D41H|SLC9B2_ENST00000339611.4_Missense_Mutation_p.D41H|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.D41H	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	41					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										TCATTTGCATCTATACCTTTG	0.323																																																	0													157.0	142.0	147.0					4																	103987634		2203	4299	6502	SO:0001583	missense	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.121G>C	4.37:g.103987634C>G	ENSP00000378265:p.Asp41His		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.D41H	ENST00000394785.3	37	c.121	CCDS3662.1	4	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719427	0.48728	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	T;T;T;T;T	0.42900	1.8;1.76;1.8;0.96;0.97	3.44	3.44	0.39384	.	0.305502	0.22512	N	0.059081	T	0.49218	0.1544	L	0.56769	1.78	0.25337	N	0.988986	D;D;D	0.58970	0.984;0.984;0.957	P;P;P	0.52066	0.689;0.574;0.579	T	0.44590	-0.9318	10	0.66056	D	0.02	-11.6864	12.4798	0.55836	0.0:1.0:0.0:0.0	.	41;41;41	B7Z676;E9PE63;Q86UD5	.;.;SL9B2_HUMAN	H	41	ENSP00000354574:D41H;ENSP00000345241:D41H;ENSP00000378265:D41H;ENSP00000425385:D41H;ENSP00000422477:D41H	ENSP00000345241:D41H	D	-	1	0	SLC9B2	104207083	0.996000	0.38824	0.248000	0.24265	0.666000	0.39218	2.581000	0.46077	1.880000	0.54463	0.573000	0.79308	GAT	SLC9B2	-	NULL		0.323	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	C	NM_178833		103987634	-1	no_errors	ENST00000362026	ensembl	human	known	70_37	missense	SNP	0.448	G
SLIT1	6585	genome.wustl.edu	37	10	98794254	98794254	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98794254G>A	ENST00000266058.4	-	23	2657	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.F804F	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	804					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATGTTGGTGAAGGAGGAAT	0.567																																																	0													151.0	131.0	137.0					10																	98794254		2203	4300	6503	SO:0001819	synonymous_variant	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2412C>T	10.37:g.98794254G>A			Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.F804	ENST00000266058.4	37	c.2412	CCDS7453.1	10																																																																																			SLIT1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.567	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	G	NM_003061		98794254	-1	no_errors	ENST00000266058	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK1	114798	genome.wustl.edu	37	13	84455448	84455448	+	Silent	SNP	C	C	A	rs368351965		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:84455448C>A	ENST00000377084.2	-	1	1080	c.195G>T	c.(193-195)ctG>ctT	p.L65L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	65					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATTGCCATGCAGAAATAAAT	0.433																																																	0													72.0	73.0	72.0					13																	84455448		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.195G>T	13.37:g.84455448C>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L65	ENST00000377084.2	37	c.195	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	C	NM_052910		84455448	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK4	139065	genome.wustl.edu	37	X	142717613	142717613	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:142717613C>G	ENST00000381779.4	-	2	1537	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E438Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E438Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	438						integral component of membrane (GO:0016021)		p.E438*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGTCTCTCAATTTGATTG	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											75.0	69.0	71.0					X																	142717613		2203	4300	6503	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1312G>C	X.37:g.142717613C>G	ENSP00000371198:p.Glu438Gln		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E438Q	ENST00000381779.4	37	c.1312	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091055	0.55968	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57907	0.37;0.37;0.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61302	-0.7090	10	0.41790	T	0.15	-10.8603	16.8528	0.85998	0.0:1.0:0.0:0.0	.	438	Q8IW52	SLIK4_HUMAN	Q	438	ENSP00000371198:E438Q;ENSP00000349400:E438Q;ENSP00000336627:E438Q	ENSP00000336627:E438Q	E	-	1	0	SLITRK4	142545279	1.000000	0.71417	0.262000	0.24481	0.976000	0.68499	4.913000	0.63341	2.384000	0.81235	0.594000	0.82650	GAG	SLITRK4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.363	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	C	NM_173078		142717613	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	missense	SNP	0.993	G
SMAD4	4089	genome.wustl.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																																	43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963						179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361C	ENST00000342988.3	37	c.1081	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48591918	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCA2	6595	genome.wustl.edu	37	9	2123739	2123739	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:2123739G>C	ENST00000382203.1	+	27	3992	c.3783G>C	c.(3781-3783)cgG>cgC	p.R1261R	SMARCA2_ENST00000349721.2_Silent_p.R1261R|SMARCA2_ENST00000382194.1_Silent_p.R1261R|SMARCA2_ENST00000357248.2_Silent_p.R1261R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1261					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|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)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGGACCGGCGGAGGGAAGATG	0.542																																																	0													42.0	45.0	44.0					9																	2123739		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3783G>C	9.37:g.2123739G>C			B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,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.R1261	ENST00000382203.1	37	c.3783	CCDS34977.1	9																																																																																			SMARCA2	-	NULL		0.542	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2123739	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	silent	SNP	0.800	C
SMARCA4	6597	genome.wustl.edu	37	19	11101918	11101918	+	Silent	SNP	C	C	T	rs569040381	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11101918C>T	ENST00000429416.3	+	9	1619	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	SMARCA4_ENST00000590574.1_Silent_p.S446S|SMARCA4_ENST00000589677.1_Silent_p.S446S|SMARCA4_ENST00000450717.3_Silent_p.S446S|SMARCA4_ENST00000413806.3_Silent_p.S446S|SMARCA4_ENST00000444061.3_Silent_p.S446S|SMARCA4_ENST00000358026.2_Silent_p.S446S|SMARCA4_ENST00000541122.2_Silent_p.S446S|SMARCA4_ENST00000344626.4_Silent_p.S446S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	446					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)				AGCGCCAGTCCCTGCGCGAGG	0.647			"""F, N, Mis"""		NSCLC								C|||	3	0.000599042	0.0023	0.0	5008	,	,		18745	0.0		0.0	False		,,,				2504	0.0							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)											42.0	40.0	41.0					19																	11101918		2203	4300	6503	SO:0001819	synonymous_variant	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.1338C>T	19.37:g.11101918C>T			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	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.S446	ENST00000429416.3	37	c.1338	CCDS12253.1	19																																																																																			SMARCA4	-	NULL		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11101918	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	1.000	T
SMARCC1	6599	genome.wustl.edu	37	3	47629597	47629597	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:47629597G>A	ENST00000254480.5	-	0	3539				SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCTGTGAGAAGAAAAATCCTG	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.*102C>T	3.37:g.47629597G>A			Q17RS0|Q6P172|Q8IWH2	RNA	SNP	-	NULL	ENST00000254480.5	37	NULL	CCDS2758.1	3																																																																																			SMARCC1	-	-		0.537	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	G			47629597	-1	no_errors	ENST00000425518	ensembl	human	known	70_37	rna	SNP	0.905	A
SMARCC2	6601	genome.wustl.edu	37	12	56572822	56572822	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56572822G>C	ENST00000267064.4	-	12	1186	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.S367*|SMARCC2_ENST00000550859.1_5'Flank|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	367					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCCGACTCTGAGTCTTTCTT	0.498																																																	0													81.0	81.0	81.0					12																	56572822		2203	4300	6503	SO:0001587	stop_gained	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1100C>G	12.37:g.56572822G>C	ENSP00000267064:p.Ser367*		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.S367*	ENST00000267064.4	37	c.1100	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.361823	0.97507	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-8.46	16.9116	0.86141	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000267064:S367X	S	-	2	0	SMARCC2	54859089	0.995000	0.38212	0.981000	0.43875	0.998000	0.95712	2.240000	0.43088	2.606000	0.88127	0.650000	0.86243	TCA	SMARCC2	-	superfamily_Chromodomain-like		0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	G			56572822	-1	no_errors	ENST00000267064	ensembl	human	known	70_37	nonsense	SNP	0.999	C
SMARCE1	6605	genome.wustl.edu	37	17	38785201	38785201	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38785201C>T	ENST00000348513.6	-	11	1852	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E340K|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E323K|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E288K|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E288K|SMARCE1_ENST00000377808.4_3'UTR	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	358	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				GTGCCTTCTTCACCATTCTGT	0.478																																																	0													127.0	104.0	112.0					17																	38785201		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1072G>A	17.37:g.38785201C>T	ENSP00000323967:p.Glu358Lys		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E358K	ENST00000348513.6	37	c.1072	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277502	0.80580	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.19532	2.14;2.14	4.99	4.01	0.46588	.	0.227351	0.51477	D	0.000083	T	0.31857	0.0810	L	0.29908	0.895	0.52501	D	0.99995	D;P	0.63880	0.993;0.941	D;P	0.68192	0.956;0.5	T	0.03473	-1.1033	10	0.28530	T	0.3	.	15.2528	0.73561	0.1414:0.8586:0.0:0.0	.	323;358	C0IMW4;Q969G3	.;SMCE1_HUMAN	K	358;288;340	ENSP00000323967:E358K;ENSP00000445370:E340K	ENSP00000323967:E358K	E	-	1	0	SMARCE1	36038727	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.710000	0.74670	1.443000	0.47586	0.655000	0.94253	GAA	SMARCE1	-	NULL		0.478	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	C	NM_003079		38785201	-1	no_errors	ENST00000348513	ensembl	human	known	70_37	missense	SNP	1.000	T
SMCR2	140768	genome.wustl.edu	37	17	17577423	17577423	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:17577423C>G	ENST00000456090.2	-	0	480									Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)																		tggtgggggtcttcatgctgt	0.443																																																	0																																												140768			AI821758		17p11.2	2012-10-16	2011-06-10		ENSG00000223979	ENSG00000223979		"""Long non-coding RNAs"""	17914	non-coding RNA	RNA, long non-coding			"""Smith-Magenis syndrome chromosome region, candidate 2"""			11997338	Standard			Approved				OTTHUMG00000059291		17.37:g.17577423C>G				RNA	SNP	-	NULL	ENST00000456090.2	37	NULL		17																																																																																			SMCR2	-	-		0.443	SMCR2-001	KNOWN	basic	lincRNA	SMCR2	HGNC	lincRNA	OTTHUMT00000131667.2	C			17577423	-1	no_errors	ENST00000456090	ensembl	human	known	70_37	rna	SNP	0.006	G
SMARCE1	6605	genome.wustl.edu	37	17	38787059	38787059	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:38787059C>T	ENST00000348513.6	-	10	1714	c.934G>A	c.(934-936)Gag>Aag	p.E312K	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E294K|SMARCE1_ENST00000400122.3_Missense_Mutation_p.E242K|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E277K|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E242K|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E242K|SMARCE1_ENST00000377808.4_Missense_Mutation_p.E277K	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	312					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGACTGCGCTCAGCTTGCTCT	0.532																																																	0													276.0	224.0	241.0					17																	38787059		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.934G>A	17.37:g.38787059C>T	ENSP00000323967:p.Glu312Lys		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E312K	ENST00000348513.6	37	c.934	CCDS11370.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013408	0.75161	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	T;T;T	0.20738	2.05;2.05;2.24	5.47	5.47	0.80525	.	0.046417	0.85682	D	0.000000	T	0.20455	0.0492	L	0.40543	1.245	0.50467	D	0.999872	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.06625	-1.0816	10	0.16420	T	0.52	.	19.7017	0.96057	0.0:1.0:0.0:0.0	.	277;277;312	C0IMW5;C0IMW4;Q969G3	.;.;SMCE1_HUMAN	K	312;242;294;277;106	ENSP00000323967:E312K;ENSP00000445370:E294K;ENSP00000367039:E277K	ENSP00000323967:E312K	E	-	1	0	SMARCE1	36040585	0.964000	0.33143	0.381000	0.26106	0.432000	0.31715	5.025000	0.64097	2.724000	0.93272	0.561000	0.74099	GAG	SMARCE1	-	NULL		0.532	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	C	NM_003079		38787059	-1	no_errors	ENST00000348513	ensembl	human	known	70_37	missense	SNP	0.996	T
SMG1	23049	genome.wustl.edu	37	16	18820965	18820965	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:18820965C>T	ENST00000446231.2	-	63	11324	c.10912G>A	c.(10912-10914)Gac>Aac	p.D3638N	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.D3639N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3638	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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						ATGACATAGTCAACCTGTAAA	0.383																																																	0													418.0	308.0	345.0					16																	18820965		2197	4299	6496	SO:0001583	missense	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.10912G>A	16.37:g.18820965C>T	ENSP00000402515:p.Asp3638Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	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.D3639N	ENST00000446231.2	37	c.10915	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668601	0.67814	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.79653	-1.29;-1.29	5.69	5.69	0.88448	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.078445	0.53938	D	0.000046	D	0.88400	0.6426	L	0.53249	1.67	0.54753	D	0.999985	D	0.69078	0.997	D	0.83275	0.996	D	0.87845	0.2654	10	0.59425	D	0.04	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	3638	Q96Q15	SMG1_HUMAN	N	3638;3639	ENSP00000402515:D3638N;ENSP00000374118:D3639N	ENSP00000374118:D3639N	D	-	1	0	SMG1	18728466	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.697000	0.84279	2.840000	0.97914	0.655000	0.94253	GAC	SMG1	-	pfam_FATC,pfscan_FATC		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18820965	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18848735	18848735	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:18848735G>A	ENST00000446231.2	-	46	7856	c.7444C>T	c.(7444-7446)Ctg>Ttg	p.L2482L	SMG1_ENST00000389467.3_Silent_p.L2482L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2482					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						AGCACAACCAGCATCTCATCT	0.418																																																	0													90.0	88.0	88.0					16																	18848735		1886	4118	6004	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.7444C>T	16.37:g.18848735G>A			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.L2482	ENST00000446231.2	37	c.7444	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18848735	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A
SMG7	9887	genome.wustl.edu	37	1	183520229	183520229	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:183520229G>A	ENST00000347615.2	+	21	3323	c.3204G>A	c.(3202-3204)gaG>gaA	p.E1068E	SMG7_ENST00000367537.3_Silent_p.E1101E|SMG7_ENST00000507469.1_Silent_p.E1072E|SMG7_ENST00000515829.2_Silent_p.E1022E|SMG7_ENST00000456731.2_Silent_p.E980E|SMG7_ENST00000508461.1_Silent_p.E1076E	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1068					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CATCCTCTGAGAGCAGTTGGC	0.498																																																	0													81.0	74.0	76.0					1																	183520229		2203	4300	6503	SO:0001819	synonymous_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3204G>A	1.37:g.183520229G>A			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	pfam_EST1	p.E1072	ENST00000347615.2	37	c.3216	CCDS1355.1	1																																																																																			SMG7	-	NULL		0.498	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	G	NM_014837		183520229	+1	no_errors	ENST00000507469	ensembl	human	known	70_37	silent	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57288710	57288710	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:57288710G>A	ENST00000543872.2	+	2	1562	c.1298G>A	c.(1297-1299)aGg>aAg	p.R433K	SMG8_ENST00000300917.5_Missense_Mutation_p.R433K|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R433K			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	433					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R433K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGTGTGGGCAGGAACCCACAG	0.468																																																	1	Substitution - Missense(1)	prostate(1)											73.0	69.0	70.0					17																	57288710		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1298G>A	17.37:g.57288710G>A	ENSP00000438748:p.Arg433Lys		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.R433K	ENST00000543872.2	37	c.1298	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991106	0.74703	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.46451	0.87;0.87	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.47716	1.5	0.58432	D	0.999999	D	0.57257	0.979	D	0.71414	0.973	T	0.57682	-0.7769	10	0.62326	D	0.03	-15.6404	19.6164	0.95636	0.0:0.0:1.0:0.0	.	433	Q8ND04	SMG8_HUMAN	K	433	ENSP00000300917:R433K;ENSP00000438748:R433K	ENSP00000300917:R433K	R	+	2	0	SMG8	54643492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	AGG	SMG8	-	pfam_Smg8/Smg9		0.468	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	G	NM_018149		57288710	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A
SMNDC1	10285	genome.wustl.edu	37	10	112058485	112058485	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:112058485C>G	ENST00000369603.5	-	3	387	c.184G>C	c.(184-186)Gac>Cac	p.D62H	SMNDC1_ENST00000471297.1_5'UTR|SMNDC1_ENST00000369592.1_Missense_Mutation_p.D62H	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	62					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D62H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GCAAAACTGTCTGAACTTGCA	0.358																																																	1	Substitution - Missense(1)	lung(1)											104.0	91.0	96.0					10																	112058485		2203	4300	6503	SO:0001583	missense	10285			AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"""Tudor domain containing"""	16900	protein-coding gene	gene with protein product	"""splicing factor 30, survival of motor neuron-related"", ""tudor domain containing 16C"""	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.184G>C	10.37:g.112058485C>G	ENSP00000358616:p.Asp62His		B2RA27|D3DRB1|Q5T3K6	Missense_Mutation	SNP	pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	p.D62H	ENST00000369603.5	37	c.184	CCDS7565.1	10	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558241	0.45590	.	.	ENSG00000119953	ENST00000369603;ENST00000369592	D;D	0.88124	-2.34;-2.34	5.9	4.99	0.66335	.	0.296597	0.41938	D	0.000781	T	0.77772	0.4180	N	0.14661	0.345	0.38998	D	0.959283	B	0.32425	0.371	B	0.36608	0.229	T	0.77910	-0.2411	10	0.48119	T	0.1	-9.926	10.2567	0.43401	0.1331:0.7981:0.0:0.0688	.	62	O75940	SPF30_HUMAN	H	62	ENSP00000358616:D62H;ENSP00000358605:D62H	ENSP00000358605:D62H	D	-	1	0	SMNDC1	112048475	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.881000	0.63114	2.794000	0.96219	0.655000	0.94253	GAC	SMNDC1	-	NULL		0.358	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMNDC1	HGNC	protein_coding	OTTHUMT00000050325.2	C	NM_005871		112058485	-1	no_errors	ENST00000369592	ensembl	human	known	70_37	missense	SNP	1.000	G
SMO	6608	genome.wustl.edu	37	7	128845562	128845562	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:128845562G>C	ENST00000249373.3	+	4	1139	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	287					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CCAGTTCATGGATGGTGCCCG	0.592			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													63.0	62.0	63.0					7																	128845562		2203	4300	6503	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.859G>C	7.37:g.128845562G>C	ENSP00000249373:p.Asp287His		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.D287H	ENST00000249373.3	37	c.859	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551211	0.65311	.	.	ENSG00000128602	ENST00000249373	D	0.82081	-1.57	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.088091	0.85682	D	0.000000	D	0.89174	0.6640	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.88611	0.3156	10	0.48119	T	0.1	.	18.5223	0.90958	0.0:0.0:1.0:0.0	.	287	Q99835	SMO_HUMAN	H	287	ENSP00000249373:D287H	ENSP00000249373:D287H	D	+	1	0	SMO	128632798	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.992000	0.88273	2.620000	0.88729	0.491000	0.48974	GAT	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	G	NM_005631		128845562	+1	no_errors	ENST00000249373	ensembl	human	known	70_37	missense	SNP	1.000	C
SMOX	54498	genome.wustl.edu	37	20	4163254	4163254	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:4163254C>T	ENST00000305958.4	+	5	1353	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	SMOX_ENST00000339123.6_Silent_p.F323F|SMOX_ENST00000379460.2_Silent_p.F376F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Silent_p.F323F	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	376					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGAGCCCTTCTGGGGCCCTG	0.602																																																	0													85.0	85.0	85.0					20																	4163254		2203	4300	6503	SO:0001819	synonymous_variant	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1128C>T	20.37:g.4163254C>T			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.F376	ENST00000305958.4	37	c.1128	CCDS13075.1	20																																																																																			SMOX	-	pfam_Amino_oxidase		0.602	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4163254	+1	no_errors	ENST00000305958	ensembl	human	known	70_37	silent	SNP	1.000	T
SNAPC4	6621	genome.wustl.edu	37	9	139286555	139286555	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139286555C>G	ENST00000298532.2	-	9	1182	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCTGCCTTCAAACTGCACC	0.632																																																	0													91.0	84.0	86.0					9																	139286555		2203	4300	6503	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.814G>C	9.37:g.139286555C>G	ENSP00000298532:p.Glu272Gln			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E272Q	ENST00000298532.2	37	c.814	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184222	0.78677	.	.	ENSG00000165684	ENST00000298532	T	0.25085	1.82	5.79	5.79	0.91817	SANT domain, DNA binding (1);Homeodomain-like (1);MYB-like (1);	0.103647	0.64402	D	0.000005	T	0.48926	0.1527	L	0.59436	1.845	0.49483	D	0.999793	D	0.76494	0.999	D	0.68943	0.961	T	0.33879	-0.9851	10	0.52906	T	0.07	-22.2736	19.0203	0.92912	0.0:1.0:0.0:0.0	.	272	Q5SXM2	SNPC4_HUMAN	Q	272	ENSP00000298532:E272Q	ENSP00000298532:E272Q	E	-	1	0	SNAPC4	138406376	1.000000	0.71417	0.998000	0.56505	0.503000	0.33858	6.885000	0.75606	2.728000	0.93425	0.655000	0.94253	GAA	SNAPC4	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	C	NM_003086		139286555	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	missense	SNP	1.000	G
SNAPC4	6621	genome.wustl.edu	37	9	139287211	139287211	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139287211C>T	ENST00000298532.2	-	7	1019	c.651G>A	c.(649-651)caG>caA	p.Q217Q		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGCTCTGCTTCTGGTGCAAGT	0.622																																																	0													46.0	45.0	46.0					9																	139287211		2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.651G>A	9.37:g.139287211C>T				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q217	ENST00000298532.2	37	c.651	CCDS6998.1	9																																																																																			SNAPC4	-	smart_SANT/Myb		0.622	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	C	NM_003086		139287211	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	1.000	T
SNCAIP	9627	genome.wustl.edu	37	5	121759246	121759246	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:121759246G>A	ENST00000261368.8	+	4	1076	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SNCAIP_ENST00000379533.2_Missense_Mutation_p.E319K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E319K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E272K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.E319K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	272					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCGAAAAGTTGAGAAGACAAC	0.488																																																	0													67.0	71.0	70.0					5																	121759246		2203	4300	6503	SO:0001583	missense	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.814G>A	5.37:g.121759246G>A	ENSP00000261368:p.Glu272Lys		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E319K	ENST00000261368.8	37	c.955	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258941	0.80246	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.14640	4.78;2.53;2.49;4.78;2.49;4.26	6.02	6.02	0.97574	.	0.366946	0.31290	N	0.007909	T	0.18800	0.0451	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.52061	0.748;0.95;0.787;0.7	B;P;B;B	0.48334	0.25;0.574;0.218;0.193	T	0.00383	-1.1774	9	.	.	.	-26.1939	20.5407	0.99260	0.0:0.0:1.0:0.0	.	272;319;319;272	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	K	272;272;319;272;319;319	ENSP00000422106:E272K;ENSP00000261368:E272K;ENSP00000368848:E319K;ENSP00000368851:E272K;ENSP00000261367:E319K;ENSP00000423199:E319K	.	E	+	1	0	SNCAIP	121787145	1.000000	0.71417	0.968000	0.41197	0.548000	0.35241	7.443000	0.80521	2.865000	0.98341	0.655000	0.94253	GAG	SNCAIP	-	NULL		0.488	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	G			121759246	+1	no_errors	ENST00000379533	ensembl	human	known	70_37	missense	SNP	0.997	A
SNED1	25992	genome.wustl.edu	37	2	241992704	241992704	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:241992704C>A	ENST00000310397.8	+	16	2218	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.Q740K|SNED1_ENST00000342631.6_Missense_Mutation_p.Q740K|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.Q740K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	740	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCGGGTCTGCCAGCCACACGG	0.687																																																	0													40.0	46.0	44.0					2																	241992704		1959	4141	6100	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2218C>A	2.37:g.241992704C>A	ENSP00000308893:p.Gln740Lys		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.Q740K	ENST00000310397.8	37	c.2218	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682124	0.29872	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.16	0.867	0.19085	Complement control module (1);Sushi/SCR/CCP (2);	0.284492	0.24633	N	0.036867	T	0.17916	0.0430	M	0.64080	1.96	0.24585	N	0.993852	B	0.31435	0.323	B	0.27380	0.079	T	0.26916	-1.0089	10	0.06236	T	0.91	.	7.6415	0.28296	0.3407:0.5694:0.0:0.0899	.	740	Q8TER0	SNED1_HUMAN	K	740	ENSP00000384871:Q740K;ENSP00000386007:Q740K;ENSP00000308893:Q740K;ENSP00000342992:Q740K	ENSP00000308893:Q740K	Q	+	1	0	SNED1	241641377	0.940000	0.31905	0.935000	0.37517	0.082000	0.17680	0.690000	0.25451	0.738000	0.32606	0.563000	0.77884	CAG	SNED1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	C	XM_059482		241992704	+1	no_errors	ENST00000310397	ensembl	human	known	70_37	missense	SNP	0.837	A
SNORD3B-1	26851	genome.wustl.edu	37	17	18967291	18967291	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:18967291C>G	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		gaacgatcatcaatggctgac	0.527																																																	0													36.0	85.0	75.0					17																	18967291		485	1933	2418			780852			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967291C>G				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-2	-	-		0.527	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	HGNC	lincRNA		C	NR_003271		18967291	-1	no_errors	ENST00000364880	ensembl	human	known	70_37	rna	SNP	0.056	G
SNORD3C	780853	genome.wustl.edu	37	17	19091487	19091487	+	lincRNA	SNP	G	G	C	rs571737814	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:19091487G>C	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		gtcagccattgatgatcgttc	0.522																																																	0													8.0	3.0	5.0					17																	19091487		732	1109	1841			780851					17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091487G>C				RNA	SNP	-	NULL	ENST00000362428.1	37	NULL		17																																																																																			SNORD3A	-	-		0.522	SNORD3C-201	KNOWN	basic	snoRNA	SNORD3A	HGNC	lincRNA		G	NR_006881		19091487	+1	no_errors	ENST00000365494	ensembl	human	known	70_37	rna	SNP	0.949	C
SNW1	22938	genome.wustl.edu	37	14	78217764	78217764	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:78217764C>G	ENST00000261531.7	-	3	290	c.228G>C	c.(226-228)atG>atC	p.M76I	SNW1_ENST00000555761.1_Missense_Mutation_p.M76I|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	76	Interaction with PPIL1.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCTTTCGTCCCATATCCAGTG	0.388																																																	0													98.0	107.0	104.0					14																	78217764		2203	4300	6503	SO:0001583	missense	22938			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.228G>C	14.37:g.78217764C>G	ENSP00000261531:p.Met76Ile		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.M76I	ENST00000261531.7	37	c.228	CCDS9867.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.188570	0.94923	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.87097	2.86	0.80722	D	1	D;B	0.56521	0.976;0.131	P;B	0.62491	0.903;0.039	D	0.85778	0.1359	9	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	76;76	G3V3A4;Q13573	.;SNW1_HUMAN	I	76	.	ENSP00000261531:M76I	M	-	3	0	SNW1	77287517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.808000	0.96608	0.650000	0.86243	ATG	SNW1	-	NULL		0.388	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1	C	NM_012245		78217764	-1	no_errors	ENST00000261531	ensembl	human	known	70_37	missense	SNP	1.000	G
SOX15	6665	genome.wustl.edu	37	17	7492582	7492582	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7492582C>G	ENST00000250055.2	-	1	906	c.413G>C	c.(412-414)aGa>aCa	p.R138T	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Missense_Mutation_p.R138T|SOX15_ENST00000570788.1_Missense_Mutation_p.R138T|FXR2_ENST00000573057.1_5'Flank	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	138					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						CAGGTTGCCTCTTCCCTGTCC	0.711											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8.0	7.0	7.0					17																	7492582		2143	4174	6317	SO:0001583	missense	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"""SRY (sex determining region Y)-boxes"""	11196	protein-coding gene	gene with protein product		601297	"""SRY (sex determining region Y)-box 20"""	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.413G>C	17.37:g.7492582C>G	ENSP00000355354:p.Arg138Thr	642	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R138T	ENST00000250055.2	37	c.413	CCDS32549.1	17	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053304	0.55218	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.95272	-3.66;-3.66	5.27	3.29	0.37713	.	2.700690	0.01100	N	0.005354	D	0.87103	0.6094	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77664	-0.2503	10	0.10636	T	0.68	.	7.2246	0.26007	0.0:0.7293:0.0:0.2707	.	138	O60248	SOX15_HUMAN	T	138	ENSP00000355354:R138T;ENSP00000439311:R138T	ENSP00000355354:R138T	R	-	2	0	SOX15	7433306	0.000000	0.05858	0.113000	0.21522	0.542000	0.35054	0.214000	0.17541	0.635000	0.30488	0.555000	0.69702	AGA	SOX15	-	NULL		0.711	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	C	NM_006942		7492582	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	missense	SNP	0.000	G
SOCS7	30837	genome.wustl.edu	37	17	36521268	36521268	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36521268C>T	ENST00000577233.1	+	4	1036	c.1036C>T	c.(1036-1038)Ccg>Tcg	p.P346S	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCCCTACCTCCGCCTCCTCC	0.502																																																	0													93.0	85.0	88.0					17																	36521268		2203	4300	6503	SO:0001583	missense	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1036C>T	17.37:g.36521268C>T	ENSP00000464034:p.Pro346Ser		A2VCU2|Q0IJ63	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.P346S	ENST00000577233.1	37	c.1036	CCDS32637.1	17	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858015	0.51376	.	.	ENSG00000174111	ENST00000331159	.	.	.	5.87	5.87	0.94306	.	0.177617	0.38436	N	0.001690	T	0.70640	0.3247	L	0.53249	1.67	0.45567	D	0.998511	D	0.64830	0.994	P	0.56343	0.796	T	0.62905	-0.6755	9	0.15952	T	0.53	-15.5038	19.8142	0.96558	0.0:1.0:0.0:0.0	.	346	O14512	SOCS7_HUMAN	S	346	.	ENSP00000330659:P346S	P	+	1	0	SOCS7	33774794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.248000	0.65421	2.780000	0.95670	0.655000	0.94253	CCG	SOCS7	-	NULL		0.502	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS7	HGNC	protein_coding	OTTHUMT00000440486.4	C	XM_371052		36521268	+1	no_errors	ENST00000577233	ensembl	human	known	70_37	missense	SNP	1.000	T
SP100	6672	genome.wustl.edu	37	2	231311611	231311611	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:231311611G>C	ENST00000264052.5	+	5	872	c.517G>C	c.(517-519)Gaa>Caa	p.E173Q	SP100_ENST00000341950.4_Missense_Mutation_p.E173Q|SP100_ENST00000340126.4_Missense_Mutation_p.E173Q|SP100_ENST00000409897.1_Missense_Mutation_p.E138Q|SP100_ENST00000409112.1_Missense_Mutation_p.E173Q|SP100_ENST00000409824.1_Missense_Mutation_p.E148Q|SP100_ENST00000409341.1_Missense_Mutation_p.E173Q|SP100_ENST00000427101.2_Missense_Mutation_p.E148Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	173					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|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)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTAAGTCTTGAACAAGGTAA	0.423																																																	0													70.0	63.0	65.0					2																	231311611		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.517G>C	2.37:g.231311611G>C	ENSP00000264052:p.Glu173Gln		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.E173Q	ENST00000264052.5	37	c.517	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687699	0.29962	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;T;D;T;T;T	0.81908	2.08;1.98;0.67;1.98;1.98;-1.55;0.02;1.97;1.97	3.8	2.91	0.33838	.	.	.	.	.	D	0.82972	0.5153	L	0.27053	0.805	0.19300	N	0.999976	P;D;P;D;P;D;D;P	0.89917	0.865;0.997;0.647;1.0;0.881;0.999;0.999;0.865	P;D;B;D;B;D;D;P	0.75020	0.521;0.916;0.203;0.985;0.241;0.953;0.953;0.521	T	0.70252	-0.4923	9	0.45353	T	0.12	.	7.6721	0.28465	0.1158:0.0:0.8842:0.0	.	148;173;138;173;173;173;148;173	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	Q	173;148;148;148;173;173;173;173;138	ENSP00000264052:E173Q;ENSP00000399389:E148Q;ENSP00000391616:E148Q;ENSP00000387311:E148Q;ENSP00000386404:E173Q;ENSP00000386427:E173Q;ENSP00000343023:E173Q;ENSP00000342729:E173Q;ENSP00000386998:E138Q	ENSP00000264052:E173Q	E	+	1	0	SP100	231019855	0.035000	0.19736	0.629000	0.29254	0.282000	0.26991	0.723000	0.25939	1.171000	0.42768	0.655000	0.94253	GAA	SP100	-	NULL		0.423	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	G	NM_003113		231311611	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.654	C
SPATA32	124783	genome.wustl.edu	37	17	43333177	43333177	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:43333177G>A	ENST00000331780.4	-	4	467	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F103F|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	124					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TCCACGGTCTGAAGGTCTGTG	0.557																																																	0													118.0	114.0	115.0					17																	43333177		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.372C>T	17.37:g.43333177G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.F124	ENST00000331780.4	37	c.372	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43333177	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A
SP6	80320	genome.wustl.edu	37	17	45925575	45925575	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:45925575G>A	ENST00000536300.1	-	2	552	c.221C>T	c.(220-222)tCg>tTg	p.S74L	SP6_ENST00000342234.2_Missense_Mutation_p.S74L	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	74					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GGTTACCCGCGAGGAGGCCCC	0.662																																																	0													17.0	20.0	19.0					17																	45925575		2197	4293	6490	SO:0001583	missense	80320				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.221C>T	17.37:g.45925575G>A	ENSP00000438209:p.Ser74Leu		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S74L	ENST00000536300.1	37	c.221	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041845	0.55003	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08282	3.11;3.11	4.29	4.29	0.51040	.	0.000000	0.39083	N	0.001468	T	0.03827	0.0108	N	0.08118	0	0.34461	D	0.701775	P	0.41420	0.749	B	0.32805	0.153	T	0.46162	-0.9211	10	0.34782	T	0.22	.	11.6654	0.51370	0.0:0.1801:0.8199:0.0	.	74	Q3SY56	SP6_HUMAN	L	74	ENSP00000340799:S74L;ENSP00000438209:S74L	ENSP00000340799:S74L	S	-	2	0	SP6	43280574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.543000	0.73874	2.217000	0.71921	0.462000	0.41574	TCG	SP6	-	NULL		0.662	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	G	NM_199262		45925575	-1	no_errors	ENST00000342234	ensembl	human	known	70_37	missense	SNP	1.000	A
SPDL1	54908	genome.wustl.edu	37	5	169020517	169020517	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:169020517C>G	ENST00000265295.4	+	4	775	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATGCTGGCTCTTCAAATTGA	0.398																																																	0													106.0	105.0	105.0					5																	169020517		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.496C>G	5.37:g.169020517C>G	ENSP00000265295:p.Leu166Val			Missense_Mutation	SNP	NULL	p.L166V	ENST00000265295.4	37	c.496	CCDS4370.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.687765|3.687765	0.68157|0.68157	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000513941|ENST00000505977	T|.	0.38887|.	1.11|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.119604|.	0.56097|.	D|.	0.000021|.	T|T	0.73877|0.73877	0.3643|0.3643	L|L	0.58810|0.58810	1.83|1.83	0.54753|0.54753	D|D	0.999982|0.999982	P;D|.	0.56521|.	0.663;0.976|.	B;P|.	0.59171|.	0.323;0.853|.	T|T	0.68992|0.68992	-0.5263|-0.5263	10|5	0.62326|.	D|.	0.03|.	-12.3512|-12.3512	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	166;166|.	Q96EA4-2;Q96EA4|.	.;SPDLY_HUMAN|.	V|C	166|94	ENSP00000265295:L166V|.	ENSP00000265295:L166V|.	L|S	+|+	1|2	0|0	CCDC99|CCDC99	168953095|168953095	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.655000|0.655000	0.38815|0.38815	5.065000|5.065000	0.64344|0.64344	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CTT|TCT	SPDL1	-	NULL		0.398	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	C	NM_017785		169020517	+1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	1.000	G
SPEF1	25876	genome.wustl.edu	37	20	3759456	3759456	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:3759456G>A	ENST00000379756.3	-	5	579				SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1							axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GGATACACCTGAGACAAGGCA	0.572																																																	0													44.0	47.0	46.0					20																	3759456		1977	4163	6140	SO:0001627	intron_variant	25876			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.419-3C>T	20.37:g.3759456G>A			A5YM71|D3DVY0|Q5JX78	RNA	SNP	-	NULL	ENST00000379756.3	37	NULL	CCDS13063.2	20																																																																																			SPEF1	-	-		0.572	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEF1	HGNC	protein_coding	OTTHUMT00000077760.2	G			3759456	-1	no_errors	ENST00000463490	ensembl	human	known	70_37	rna	SNP	0.999	A
SPEF2	79925	genome.wustl.edu	37	5	35641588	35641588	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:35641588C>G	ENST00000356031.3	+	3	371	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	SPEF2_ENST00000282469.6_Missense_Mutation_p.L73V|SPEF2_ENST00000509059.1_Missense_Mutation_p.L73V|SPEF2_ENST00000440995.2_Missense_Mutation_p.L73V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	73	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTAACCTTCTGGGTGTGCA	0.383																																																	0													88.0	89.0	89.0					5																	35641588		2203	4300	6503	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.217C>G	5.37:g.35641588C>G	ENSP00000348314:p.Leu73Val		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.L73V	ENST00000356031.3	37	c.217	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557897	0.65425	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.93	-0.00751	0.14008	Calponin homology domain (1);	0.000000	0.64402	D	0.000004	T	0.56992	0.2023	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.60535	-0.7244	10	0.87932	D	0	.	11.0378	0.47811	0.0:0.4993:0.0:0.5007	.	73;73;73	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	V	73	ENSP00000282469:L73V;ENSP00000348314:L73V;ENSP00000421593:L73V;ENSP00000426259:L73V;ENSP00000412125:L73V	ENSP00000282469:L73V	L	+	1	2	SPEF2	35677345	0.040000	0.19996	0.986000	0.45419	0.996000	0.88848	0.351000	0.20096	0.125000	0.18397	0.655000	0.94253	CTG	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	C	NM_144722		35641588	+1	no_errors	ENST00000356031	ensembl	human	known	70_37	missense	SNP	0.294	G
SPEG	10290	genome.wustl.edu	37	2	220329158	220329158	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:220329158G>A	ENST00000312358.7	+	9	2841	c.2709G>A	c.(2707-2709)ctG>ctA	p.L903L	SPEG_ENST00000396686.1_Silent_p.L54L|SPEG_ENST00000396688.1_Silent_p.L54L|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.L799L|SPEG_ENST00000396689.2_Silent_p.L54L|SPEG_ENST00000396695.2_Silent_p.L111L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	903	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGACAGGCTGAGAAACCGCC	0.682																																																	0													51.0	57.0	55.0					2																	220329158		2017	4181	6198	SO:0001819	synonymous_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2709G>A	2.37:g.220329158G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L111	ENST00000312358.7	37	c.333	CCDS42824.1	2																																																																																			SPEG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220329158	+1	no_errors	ENST00000396695	ensembl	human	known	70_37	silent	SNP	1.000	A
SPIN2A	54466	genome.wustl.edu	37	X	57162266	57162266	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:57162266C>T	ENST00000374908.1	-	1	1164	c.765G>A	c.(763-765)gtG>gtA	p.V255V	SPIN2A_ENST00000374906.3_Silent_p.V255V			Q99865	SPI2A_HUMAN	spindlin family, member 2A	255					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						AGGACTTTTTCACCAAATCGT	0.373																																																	0													35.0	32.0	33.0					X																	57162266		2201	4291	6492	SO:0001819	synonymous_variant	54466			Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"""spindlin family, member 2"""	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.765G>A	X.37:g.57162266C>T			O75650|Q6IPW2|Q9UJJ0	Silent	SNP	pfam_Spin_Ssty	p.V255	ENST00000374908.1	37	c.765	CCDS35312.1	X																																																																																			SPIN2A	-	pfam_Spin_Ssty		0.373	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2A	HGNC	protein_coding	OTTHUMT00000058915.1	C	NM_019003		57162266	-1	no_errors	ENST00000374906	ensembl	human	known	70_37	silent	SNP	1.000	T
SPINT2	10653	genome.wustl.edu	37	19	38755600	38755600	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:38755600C>G	ENST00000301244.7	+	1	503	c.68C>G	c.(67-69)tCt>tGt	p.S23C	SPINT2_ENST00000454580.3_Missense_Mutation_p.S23C|SPINT2_ENST00000587090.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	23					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGCTCCTCTCTGGGGTCCTG	0.741																																																	0													8.0	9.0	9.0					19																	38755600		1998	3929	5927	SO:0001583	missense	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.68C>G	19.37:g.38755600C>G	ENSP00000301244:p.Ser23Cys		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S23C	ENST00000301244.7	37	c.68	CCDS12510.1	19	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938039	0.52972	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.63255	0.4;-0.03	3.58	-0.352	0.12598	.	0.689823	0.12021	N	0.506916	T	0.42268	0.1195	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21930	-1.0231	10	0.36615	T	0.2	.	4.9677	0.14098	0.0:0.3852:0.4672:0.1476	.	23;23	B4DLU1;O43291	.;SPIT2_HUMAN	C	23	ENSP00000301244:S23C;ENSP00000389788:S23C	ENSP00000301244:S23C	S	+	2	0	SPINT2	43447440	0.003000	0.15002	0.189000	0.23252	0.738000	0.42128	-0.120000	0.10660	0.014000	0.14944	0.457000	0.33378	TCT	SPINT2	-	NULL		0.741	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT2	HGNC	protein_coding	OTTHUMT00000458151.2	C			38755600	+1	no_errors	ENST00000301244	ensembl	human	known	70_37	missense	SNP	0.266	G
SPPL2A	84888	genome.wustl.edu	37	15	51028310	51028310	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:51028310C>T	ENST00000261854.5	-	8	1194	c.920G>A	c.(919-921)cGa>cAa	p.R307Q		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	307					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GTCTTCATTTCGAAACACAGC	0.353																																					Melanoma(50;790 1209 4069 22965 33125)												0													131.0	113.0	119.0					15																	51028310		2196	4294	6490	SO:0001583	missense	84888				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.920G>A	15.37:g.51028310C>T	ENSP00000261854:p.Arg307Gln		B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.R307Q	ENST00000261854.5	37	c.920	CCDS10138.1	15	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673780	0.88445	.	.	ENSG00000138600	ENST00000261854	T	0.21361	2.01	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.84773	2.715	0.51767	D	0.999936	D	0.89917	1.0	D	0.64321	0.924	T	0.56817	-0.7916	10	0.54805	T	0.06	-3.6316	18.813	0.92065	0.0:1.0:0.0:0.0	.	307	Q8TCT8	PSL2_HUMAN	Q	307	ENSP00000261854:R307Q	ENSP00000261854:R307Q	R	-	2	0	AC012100.1	48815602	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.280000	0.72626	2.518000	0.84900	0.563000	0.77884	CGA	SPPL2A	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2A	HGNC	protein_coding	OTTHUMT00000254543.3	C	NM_032802		51028310	-1	no_errors	ENST00000261854	ensembl	human	known	70_37	missense	SNP	1.000	T
APBB3	10307	genome.wustl.edu	37	5	139937066	139937066	+	IGR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:139937066C>T	ENST00000357560.4	-	0	2218				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.R3H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGGCAGCGCGTCATTTC	0.687																																																	0													7.0	8.0	7.0					5																	139937066		2111	4154	6265	SO:0001628	intergenic_variant	10011			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504		5.37:g.139937066C>T			B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_SRA1-protein/COPII_Sec31	p.R3H	ENST00000357560.4	37	c.8	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158255	0.38119	.	.	ENSG00000213523	ENST00000336283	T	0.48201	0.82	4.81	-0.277	0.12898	.	0.893166	0.09107	U	0.847560	T	0.29620	0.0739	L	0.36672	1.1	0.20764	N	0.999851	B	0.10296	0.003	B	0.04013	0.001	T	0.23619	-1.0183	9	.	.	.	2.7013	0.5671	0.00689	0.2775:0.3382:0.1356:0.2488	.	3	Q9HD15	SRA1_HUMAN	H	3	ENSP00000337513:R3H	.	R	-	2	0	SRA1	139917250	0.000000	0.05858	0.107000	0.21349	0.433000	0.31745	-0.647000	0.05397	-0.013000	0.14199	-0.350000	0.07774	CGC	SRA1	-	NULL		0.687	APBB3-003	KNOWN	basic|CCDS	protein_coding	SRA1	HGNC	protein_coding	OTTHUMT00000251677.2	C	NM_006051		139937066	-1	no_errors	ENST00000336283	ensembl	human	known	70_37	missense	SNP	0.017	T
SRCIN1	80725	genome.wustl.edu	37	17	36699365	36699365	+	5'UTR	SNP	A	A	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:36699365A>T	ENST00000398579.4	-	0	3378				SRCIN1_ENST00000578925.1_Intron|SRCIN1_ENST00000264659.7_Intron			Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1						exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGCCTGCTCATTAGACCTGA	0.607																																																	0																																										SO:0001623	5_prime_UTR_variant	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000398579.4:c.-1847T>A	17.37:g.36699365A>T			Q75T46|Q8N4W8	RNA	SNP	-	NULL	ENST00000398579.4	37	NULL		17																																																																																			SRCIN1	-	-		0.607	SRCIN1-004	KNOWN	NAGNAG_splice_site|basic	processed_transcript	SRCIN1	HGNC	protein_coding	OTTHUMT00000442338.1	A	NM_025248		36699365	-1	no_errors	ENST00000398579	ensembl	human	known	70_37	rna	SNP	0.000	T
SSC4D	136853	genome.wustl.edu	37	7	76019544	76019544	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:76019544G>A	ENST00000275560.3	-	11	1907	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CAGGGGCTGCGAGGGCCTGGC	0.652																																																	0													43.0	41.0	42.0					7																	76019544		2202	4300	6502	SO:0001819	synonymous_variant	136853																														ENST00000275560.3:c.1560C>T	7.37:g.76019544G>A				Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L520	ENST00000275560.3	37	c.1560	CCDS5585.1	7																																																																																			SRCRB4D	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.652	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	G			76019544	-1	no_errors	ENST00000275560	ensembl	human	known	70_37	silent	SNP	0.992	A
SRGAP3	9901	genome.wustl.edu	37	3	9057523	9057523	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:9057523G>A	ENST00000383836.3	-	15	2106				SRGAP3_ENST00000360413.3_Intron|SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGGAAAGGCAGATGGGAAAAG	0.453			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0																																										SO:0001627	intron_variant	100874103			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1679-108C>T	3.37:g.9057523G>A			Q8IX13|Q8IZV8	RNA	SNP	-	NULL	ENST00000383836.3	37	NULL	CCDS2572.1	3																																																																																			SRGAP3-AS1	-	-		0.453	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3-AS1	HGNC	protein_coding	OTTHUMT00000207137.3	G			9057523	+1	no_errors	ENST00000414633	ensembl	human	known	70_37	rna	SNP	0.005	A
SRGN	5552	genome.wustl.edu	37	10	70863643	70863643	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:70863643G>A	ENST00000242465.3	+	3	284	c.244G>A	c.(244-246)Gac>Aac	p.D82N	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	82					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						GAGAATCCAGGACTTGAATCG	0.423																																																	0													73.0	70.0	71.0					10																	70863643		2203	4300	6503	SO:0001583	missense	5552			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.244G>A	10.37:g.70863643G>A	ENSP00000242465:p.Asp82Asn		B2R4L7|Q5VW06	Missense_Mutation	SNP	pfam_Serglycin	p.D82N	ENST00000242465.3	37	c.244	CCDS7285.1	10	.	.	.	.	.	.	.	.	.	.	G	2.882	-0.231644	0.05983	.	.	ENSG00000122862	ENST00000242465	T	0.42131	0.98	4.36	0.133	0.14766	.	0.423844	0.22392	N	0.060666	T	0.10937	0.0267	N	0.01410	-0.885	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20338	-1.0278	10	0.15952	T	0.53	-23.5876	2.2217	0.03974	0.4321:0.0:0.3305:0.2374	.	82	P10124	SRGN_HUMAN	N	82	ENSP00000242465:D82N	ENSP00000242465:D82N	D	+	1	0	SRGN	70533649	0.074000	0.21230	0.012000	0.15200	0.038000	0.13279	0.423000	0.21313	0.162000	0.19483	-0.379000	0.06801	GAC	SRGN	-	pfam_Serglycin		0.423	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGN	HGNC	protein_coding	OTTHUMT00000048379.1	G	NM_002727		70863643	+1	no_errors	ENST00000242465	ensembl	human	known	70_37	missense	SNP	0.084	A
SRSF2	6427	genome.wustl.edu	37	17	74733072	74733072	+	Silent	SNP	G	G	A	rs376379121		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:74733072G>A	ENST00000392485.2	-	1	343	c.171C>T	c.(169-171)ttC>ttT	p.F57F	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.F57F|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000359995.5_Silent_p.F57F|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MIR636_ENST00000384825.1_RNA	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GAACGAAGGCGAAGCCGCGGG	0.682			Mis		"""MDS, CLL"""																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0								G	,,	0,4402		0,0,2201	27.0	32.0	30.0		171,,171	2.8	1.0	17		30	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,utr-5,coding-synonymous	SRSF2,MFSD11	NM_001195427.1,NM_001242534.1,NM_003016.4	,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,	57/222,,57/222	74733072	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.171C>T	17.37:g.74733072G>A			B3KWD5|B4DN89|H0YG49	Silent	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.F57	ENST00000392485.2	37	c.171	CCDS11749.1	17																																																																																			SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.682	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	G	NM_003016		74733072	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	silent	SNP	1.000	A
SSC5D	284297	genome.wustl.edu	37	19	56028751	56028751	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56028751G>C	ENST00000389623.6	+	14	3131	c.3108G>C	c.(3106-3108)ttG>ttC	p.L1036F		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1036	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						ACTCAGCCTTGACGTCCGAGG	0.682																																																	0													22.0	24.0	24.0					19																	56028751		692	1591	2283	SO:0001583	missense	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3108G>C	19.37:g.56028751G>C	ENSP00000374274:p.Leu1036Phe		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L1036F	ENST00000389623.6	37	c.3108	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	7.984	0.751827	0.15778	.	.	ENSG00000179954	ENST00000389623	T	0.01252	5.1	2.45	-1.68	0.08212	.	.	.	.	.	T	0.01124	0.0037	L	0.29908	0.895	0.09310	N	1	B	0.33266	0.404	B	0.28011	0.085	T	0.45804	-0.9236	9	0.62326	D	0.03	.	3.8516	0.08957	0.3991:0.452:0.1489:0.0	.	1036	A1L4H1	SRCRL_HUMAN	F	1036	ENSP00000374274:L1036F	ENSP00000374274:L1036F	L	+	3	2	SSC5D	60720563	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.705000	0.01896	-0.438000	0.07232	-0.745000	0.03516	TTG	SSC5D	-	NULL		0.682	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	G	XM_001718392		56028751	+1	no_errors	ENST00000389623	ensembl	human	known	70_37	missense	SNP	0.000	C
SSFA2	6744	genome.wustl.edu	37	2	182786865	182786865	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:182786865C>T	ENST00000431877.2	+	16	3580	c.3401C>T	c.(3400-3402)tCa>tTa	p.S1134L	SSFA2_ENST00000320370.7_Missense_Mutation_p.S1134L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S959L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.S1112L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S643L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1134						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTACTGCCTCAGTGGGCAAA	0.478																																																	0													116.0	119.0	118.0					2																	182786865		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3401C>T	2.37:g.182786865C>T	ENSP00000388731:p.Ser1134Leu		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S1134L	ENST00000431877.2	37	c.3401	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102928	0.20632	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.14893	2.7;2.47;2.7;2.69;2.47	5.58	3.79	0.43588	.	0.781386	0.12199	N	0.490453	T	0.13157	0.0319	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.004;0.004;0.004	T	0.31052	-0.9957	10	0.23891	T	0.37	-0.091	9.363	0.38208	0.0:0.7657:0.0:0.2343	.	959;643;1112;1134;1134	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	1134;1134;1112;959;643;79	ENSP00000388731:S1134L;ENSP00000314669:S1134L;ENSP00000387319:S1112L;ENSP00000409867:S959L;ENSP00000386916:S643L	ENSP00000314669:S1134L	S	+	2	0	SSFA2	182495110	0.006000	0.16342	0.006000	0.13384	0.580000	0.36256	1.089000	0.30890	0.725000	0.32318	0.563000	0.77884	TCA	SSFA2	-	NULL		0.478	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182786865	+1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	0.085	T
SSPO	23145	genome.wustl.edu	37	7	149523307	149523307	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:149523307C>T	ENST00000378016.2	+	0	14393							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)			CCTGGGGTGGCACCATGCCAG	0.657																																																	0													33.0	41.0	39.0					7																	149523307		1970	4141	6111			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.149523307C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149523307	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.000	T
ST3GAL1	6482	genome.wustl.edu	37	8	134472011	134472011	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:134472011C>T	ENST00000319914.5	-	9	2046	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R340K|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R340K|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R340K			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	340					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			ACTGCGTCATCTCCCCTTGAA	0.587																																																	0													161.0	115.0	130.0					8																	134472011		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.1019G>A	8.37:g.134472011C>T	ENSP00000318445:p.Arg340Lys		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R340K	ENST00000319914.5	37	c.1019	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242308	0.58995	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.13	5.13	0.70059	.	0.145952	0.64402	D	0.000005	T	0.18341	0.0440	L	0.46670	1.46	0.53005	D	0.999967	B	0.32382	0.368	B	0.30782	0.12	T	0.02539	-1.1144	10	0.32370	T	0.25	-32.5637	17.9166	0.88953	0.0:1.0:0.0:0.0	.	340	Q11201	SIA4A_HUMAN	K	340	ENSP00000318445:R340K;ENSP00000414073:R340K;ENSP00000428540:R340K;ENSP00000430515:R340K	ENSP00000318445:R340K	R	-	2	0	ST3GAL1	134541193	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	2.132000	0.42083	2.558000	0.86282	0.555000	0.69702	AGA	ST3GAL1	-	pirsf_Sialyl_trans		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	C	NM_003033		134472011	-1	no_errors	ENST00000319914	ensembl	human	known	70_37	missense	SNP	1.000	T
ST6GALNAC3	256435	genome.wustl.edu	37	1	76877784	76877784	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:76877784C>T	ENST00000328299.3	+	3	453	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	102					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GATCGATCCTCCTGCATTTGG	0.478																																																	0													124.0	109.0	114.0					1																	76877784		2203	4300	6503	SO:0001583	missense	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.305C>T	1.37:g.76877784C>T	ENSP00000329214:p.Ser102Phe		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.S102F	ENST00000328299.3	37	c.305	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146384	0.77888	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.30448	1.53	6.17	6.17	0.99709	.	0.160799	0.56097	D	0.000023	T	0.45915	0.1366	L	0.59436	1.845	0.58432	D	0.999996	D;D;D	0.64830	0.971;0.98;0.994	P;D;P	0.63033	0.903;0.91;0.861	T	0.30851	-0.9964	10	0.87932	D	0	-10.7815	19.8676	0.96824	0.0:1.0:0.0:0.0	.	37;102;102	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	F	102;102;101;36	ENSP00000329214:S102F	ENSP00000329214:S102F	S	+	2	0	ST6GALNAC3	76650372	0.895000	0.30542	0.993000	0.49108	0.638000	0.38207	2.871000	0.48459	2.941000	0.99782	0.655000	0.94253	TCC	ST6GALNAC3	-	pfam_Glyco_trans_29		0.478	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	C	NM_152996		76877784	+1	no_errors	ENST00000328299	ensembl	human	known	70_37	missense	SNP	1.000	T
STARD9	57519	genome.wustl.edu	37	15	42985060	42985060	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:42985060G>C	ENST00000290607.7	+	23	11341	c.11284G>C	c.(11284-11286)Gaa>Caa	p.E3762Q		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3762					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGTGATCCTTGAAGGGCTAGG	0.552																																																	0													58.0	58.0	58.0					15																	42985060		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.11284G>C	15.37:g.42985060G>C	ENSP00000290607:p.Glu3762Gln		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E3762Q	ENST00000290607.7	37	c.11284	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903036	0.72754	.	.	ENSG00000159433	ENST00000290607	T	0.66638	-0.22	5.86	1.6	0.23607	.	.	.	.	.	T	0.58061	0.2096	L	0.57536	1.79	0.09310	N	1	B	0.20368	0.044	B	0.15870	0.014	T	0.54397	-0.8300	9	0.66056	D	0.02	.	5.3114	0.15833	0.09:0.393:0.3949:0.1221	.	3676	Q9P2P6	STAR9_HUMAN	Q	3762	ENSP00000290607:E3762Q	ENSP00000290607:E3762Q	E	+	1	0	STARD9	40772352	0.002000	0.14202	0.889000	0.34880	0.379000	0.30106	1.356000	0.34079	0.761000	0.33130	0.563000	0.77884	GAA	STARD9	-	NULL		0.552	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42985060	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	missense	SNP	0.000	C
STAT4	6775	genome.wustl.edu	37	2	191929649	191929649	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:191929649C>T	ENST00000392320.2	-	8	980	c.666G>A	c.(664-666)gaG>gaA	p.E222E	STAT4_ENST00000358470.4_Silent_p.E222E	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	222					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACAGGTCTGTCTCATGGATGA	0.458																																																	0													146.0	155.0	152.0					2																	191929649		2203	4300	6503	SO:0001819	synonymous_variant	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.666G>A	2.37:g.191929649C>T			Q96NZ6	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E222	ENST00000392320.2	37	c.666	CCDS2310.1	2																																																																																			STAT4	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.458	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	C	NM_003151		191929649	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	silent	SNP	0.961	T
STIL	6491	genome.wustl.edu	37	1	47753326	47753326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:47753326C>A	ENST00000360380.3	-	11	1393	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	STIL_ENST00000243182.6_Nonsense_Mutation_p.E344*|STIL_ENST00000337817.5_Nonsense_Mutation_p.E344*|STIL_ENST00000396221.2_Nonsense_Mutation_p.E344*|STIL_ENST00000371877.3_Nonsense_Mutation_p.E344*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	344					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGGAGGTTCAACATTCTGA	0.348																																																	0													60.0	58.0	59.0					1																	47753326		2202	4300	6502	SO:0001587	stop_gained	6491			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1030G>T	1.37:g.47753326C>A	ENSP00000353544:p.Glu344*		Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	NULL	p.E344*	ENST00000360380.3	37	c.1030	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.196879	0.98129	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.51	5.51	0.81932	.	0.097206	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6308	17.959	0.89079	0.0:1.0:0.0:0.0	.	.	.	.	X	344;344;344;344;344;297	.	ENSP00000243182:E344X	E	-	1	0	STIL	47525913	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.853000	0.62911	2.749000	0.94314	0.460000	0.39030	GAA	STIL	-	NULL		0.348	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	C	NM_003035		47753326	-1	no_errors	ENST00000371877	ensembl	human	known	70_37	nonsense	SNP	1.000	A
STK31	56164	genome.wustl.edu	37	7	23826166	23826166	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:23826166G>A	ENST00000355870.3	+	19	2433	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	STK31_ENST00000354639.3_Missense_Mutation_p.E749K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E772K|STK31_ENST00000428484.1_Missense_Mutation_p.E749K	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAAGGTGATTGAGAGAGCAGC	0.403																																																	0													114.0	102.0	106.0					7																	23826166		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2314G>A	7.37:g.23826166G>A	ENSP00000348132:p.Glu772Lys		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.E772K	ENST00000355870.3	37	c.2314	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541882	0.45280	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.73789	-0.78;2.1;-0.78;-0.78	5.18	2.12	0.27331	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.292368	0.30269	N	0.010018	T	0.51227	0.1662	N	0.11255	0.115	0.33528	D	0.593282	B;B	0.17465	0.022;0.022	B;B	0.15052	0.012;0.009	T	0.51340	-0.8718	10	0.30078	T	0.28	-1.2233	8.5706	0.33567	0.2406:0.3145:0.4449:0.0	.	772;772	B4DZ06;Q9BXU1	.;STK31_HUMAN	K	772;772;749;749	ENSP00000348132:E772K;ENSP00000411852:E772K;ENSP00000346660:E749K;ENSP00000406146:E749K	ENSP00000346660:E749K	E	+	1	0	STK31	23792691	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.462000	0.35266	0.540000	0.28808	-0.479000	0.04858	GAG	STK31	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.403	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	G	NM_031414		23826166	+1	no_errors	ENST00000355870	ensembl	human	known	70_37	missense	SNP	1.000	A
STK35	140901	genome.wustl.edu	37	20	2097345	2097345	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:2097345G>A	ENST00000381482.3	+	3	1197	c.926G>A	c.(925-927)tGc>tAc	p.C309Y	STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Missense_Mutation_p.C176Y			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GAGGAGCCCTGCTATCTCTGG	0.473																																																	0													192.0	182.0	185.0					20																	2097345		2203	4300	6503	SO:0001583	missense	140901			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.926G>A	20.37:g.2097345G>A	ENSP00000370891:p.Cys309Tyr		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.C309Y	ENST00000381482.3	37	c.926	CCDS13024.2	20	.	.	.	.	.	.	.	.	.	.	G	2.401	-0.337535	0.05278	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	T;T	0.64803	-0.12;-0.12	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.13299	0.325	0.80722	D	1	B	0.18013	0.025	B	0.30401	0.115	T	0.41142	-0.9525	10	0.29301	T	0.29	-14.3249	16.4822	0.84160	0.0:0.0:1.0:0.0	.	309	Q8TDR2	STK35_HUMAN	Y	309;176	ENSP00000370891:C309Y;ENSP00000246032:C176Y	ENSP00000246032:C176Y	C	+	2	0	STK35	2045345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.860000	0.86993	2.752000	0.94435	0.655000	0.94253	TGC	STK35	-	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		0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3	G	NM_080836		2097345	+1	no_errors	ENST00000381482	ensembl	human	known	70_37	missense	SNP	1.000	A
STK36	27148	genome.wustl.edu	37	2	219553557	219553557	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219553557G>A	ENST00000295709.3	+	12	1797	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	STK36_ENST00000440309.1_Silent_p.L506L|STK36_ENST00000392106.2_Silent_p.L506L|STK36_ENST00000392105.3_Silent_p.L506L	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGCTGCTGCTGAGTCTACTCA	0.542																																																	0													71.0	66.0	67.0					2																	219553557		2203	4300	6503	SO:0001819	synonymous_variant	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1518G>A	2.37:g.219553557G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L506	ENST00000295709.3	37	c.1518	CCDS2421.1	2																																																																																			STK36	-	NULL		0.542	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	G			219553557	+1	no_errors	ENST00000295709	ensembl	human	known	70_37	silent	SNP	0.006	A
STMN1	3925	genome.wustl.edu	37	1	26227120	26227120	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:26227120G>A	ENST00000399728.1	-	0	1200				STMN1_ENST00000455785.2_3'UTR|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000426559.2_Intron|STMN1_ENST00000357865.2_3'UTR	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GATTGGGACAGAATTGGGATT	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	3925			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.*387C>T	1.37:g.26227120G>A			A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	RNA	SNP	-	NULL	ENST00000399728.1	37	NULL	CCDS269.1	1																																																																																			STMN1	-	-		0.368	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN1	HGNC	protein_coding	OTTHUMT00000019359.1	G	NM_005563		26227120	-1	no_errors	ENST00000465604	ensembl	human	known	70_37	rna	SNP	1.000	A
STRADA	92335	genome.wustl.edu	37	17	61790876	61790876	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:61790876C>G	ENST00000336174.6	-	6	350	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	STRADA_ENST00000447001.3_Missense_Mutation_p.E36Q|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_Missense_Mutation_p.E22Q|STRADA_ENST00000582137.1_Missense_Mutation_p.E51Q|STRADA_ENST00000392950.4_Missense_Mutation_p.E43Q|STRADA_ENST00000245865.5_Missense_Mutation_p.E22Q|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E22Q	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ATCAGGTCCTCAAATCCTTTG	0.388																																																	0													193.0	174.0	181.0					17																	61790876		2203	4300	6503	SO:0001583	missense	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.238G>C	17.37:g.61790876C>G	ENSP00000336655:p.Glu80Gln		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E80Q	ENST00000336174.6	37	c.238	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993733	0.54041	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.73469	-0.75;-0.75;0.45;1.86	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139319	0.64402	D	0.000004	T	0.75968	0.3922	L	0.39898	1.24	0.58432	D	0.999999	P;P;P;B;P;P;P	0.51653	0.668;0.864;0.946;0.393;0.893;0.947;0.912	B;B;P;B;P;P;P	0.51550	0.23;0.218;0.673;0.073;0.521;0.624;0.673	T	0.76737	-0.2849	10	0.46703	T	0.11	.	18.463	0.90746	0.0:1.0:0.0:0.0	.	51;36;22;22;43;43;80	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	Q	80;22;36;43;42	ENSP00000336655:E80Q;ENSP00000365000:E22Q;ENSP00000398841:E36Q;ENSP00000376677:E43Q	ENSP00000245865:E42Q	E	-	1	0	STRADA	59144608	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.448000	0.80631	2.599000	0.87857	0.491000	0.48974	GAG	STRADA	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	C			61790876	-1	no_errors	ENST00000336174	ensembl	human	known	70_37	missense	SNP	1.000	G
STYXL1	51657	genome.wustl.edu	37	7	75634707	75634707	+	Missense_Mutation	SNP	G	G	C	rs372639771		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:75634707G>C	ENST00000248600.1	-	6	811	c.469C>G	c.(469-471)Cag>Gag	p.Q157E	STYXL1_ENST00000451157.1_Missense_Mutation_p.Q157E|STYXL1_ENST00000360591.3_Nonsense_Mutation_p.S108*|STYXL1_ENST00000340062.5_Missense_Mutation_p.Q61E|STYXL1_ENST00000431581.1_Missense_Mutation_p.Q157E|STYXL1_ENST00000359697.3_Missense_Mutation_p.Q157E	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	157					intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GGGTATGGCTGAAATGCATCC	0.478																																																	0								G	GLU/GLN	0,4406		0,0,2203	113.0	102.0	106.0		469	3.1	0.9	7		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	STYXL1	NM_016086.2	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	157/314	75634707	1,13005	2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.469C>G	7.37:g.75634707G>C	ENSP00000248600:p.Gln157Glu		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Nonsense_Mutation	SNP	superfamily_Rhodanese-like_dom	p.S108*	ENST00000248600.1	37	c.323	CCDS5580.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.44|16.44	3.122718|3.122718	0.56613|0.56613	0.0|0.0	1.16E-4|1.16E-4	ENSG00000127952|ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157|ENST00000360591	T;T;T;T;T;T|.	0.30714|.	1.52;1.52;1.52;1.52;1.52;1.52|.	5.13|5.13	3.14|3.14	0.36123|0.36123	Rhodanese-like (1);|.	0.492459|.	0.22324|.	N|.	0.061543|.	T|.	0.44222|.	0.1283|.	N|N	0.15975|0.15975	0.35|0.35	0.26783|0.26783	A|A	0.0304321|0.0304321	P;B;B;D;B|.	0.61697|.	0.459;0.02;0.423;0.99;0.011|.	B;B;B;D;B|.	0.72982|.	0.122;0.012;0.079;0.979;0.004|.	T|.	0.59595|.	-0.7425|.	9|.	0.22706|0.46703	T|T	0.39|0.11	-17.3288|-17.3288	14.6526|14.6526	0.68808|0.68808	0.0:0.2943:0.7057:0.0|0.0:0.2943:0.7057:0.0	.|.	157;157;157;61;157|.	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8|.	.;.;.;.;STYL1_HUMAN|.	E|X	157;157;61;157;157;112;157|108	ENSP00000248600:Q157E;ENSP00000352726:Q157E;ENSP00000343383:Q61E;ENSP00000392221:Q157E;ENSP00000406073:Q112E;ENSP00000411812:Q157E|.	ENSP00000248600:Q157E|ENSP00000353798:S108X	Q|S	-|-	1|2	0|0	STYXL1|STYXL1	75472643|75472643	0.541000|0.541000	0.26417|0.26417	0.858000|0.858000	0.33744|0.33744	0.810000|0.810000	0.45777|0.45777	0.337000|0.337000	0.19841|0.19841	1.119000|1.119000	0.41883|0.41883	0.557000|0.557000	0.71058|0.71058	CAG|TCA	STYXL1	-	NULL		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	G	NM_016086		75634707	-1	no_errors	ENST00000360591	ensembl	human	known	70_37	nonsense	SNP	0.968	C
SULT1A1	6817	genome.wustl.edu	37	16	28619669	28619669	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:28619669C>T	ENST00000395607.1	-	4	588	c.315G>A	c.(313-315)ctG>ctA	p.L105L	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.L105L|SULT1A1_ENST00000395609.1_Silent_p.L105L|SULT1A1_ENST00000314752.7_Silent_p.L105L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	105					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGTGTGTCTTCAGGAGTCGTG	0.582																																																	0													193.0	149.0	164.0					16																	28619669		2197	4300	6497	SO:0001819	synonymous_variant	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.315G>A	16.37:g.28619669C>T			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	pfam_Sulfotransferase_dom	p.L105	ENST00000395607.1	37	c.315	CCDS32420.1	16																																																																																			SULT1A1	-	pfam_Sulfotransferase_dom		0.582	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	C	NM_001055		28619669	-1	no_errors	ENST00000314752	ensembl	human	known	70_37	silent	SNP	0.945	T
SULT1A1	6817	genome.wustl.edu	37	16	28620067	28620067	+	Missense_Mutation	SNP	C	C	T	rs143283780	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:28620067C>T	ENST00000395607.1	-	2	383	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37Q|SULT1A1_ENST00000395609.1_Missense_Mutation_p.R37Q|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37Q	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	37			R -> Q. {ECO:0000269|PubMed:9345314}.		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GTCATCAGGCCGGGCCTGGAA	0.652													.|||	2	0.000399361	0.0015	0.0	5008	,	,		23889	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,	7,4387		0,7,2190	71.0	62.0	65.0		110,110,110,110,	0.3	0.0	16	dbSNP_134	65	0,8594		0,0,4297	no	missense,missense,missense,missense,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	43,43,43,43,	0,7,6487	TT,TC,CC		0.0,0.1593,0.0539	benign,benign,benign,benign,	37/296,37/296,37/296,37/296,	28620067	7,12981	2197	4297	6494	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.110G>A	16.37:g.28620067C>T	ENSP00000378971:p.Arg37Gln		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R37Q	ENST00000395607.1	37	c.110	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	.	13.68	2.308907	0.40895	0.001593	0.0	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.02236	4.38;4.38;4.38	2.5	0.336	0.15958	.	1.482540	0.04423	N	0.367932	T	0.02047	0.0064	N	0.19112	0.55	0.09310	N	0.999999	B	0.18968	0.032	B	0.17433	0.018	T	0.46735	-0.9170	10	0.54805	T	0.06	.	4.4973	0.11844	0.2284:0.6332:0.0:0.1384	.	37	P50225	ST1A1_HUMAN	Q	37	ENSP00000321988:R37Q;ENSP00000378972:R37Q;ENSP00000378971:R37Q	ENSP00000321988:R37Q	R	-	2	0	SULT1A1	28527568	0.001000	0.12720	0.005000	0.12908	0.401000	0.30781	0.215000	0.17562	0.123000	0.18342	0.306000	0.20318	CGG	SULT1A1	-	NULL		0.652	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	C	NM_001055		28620067	-1	no_errors	ENST00000314752	ensembl	human	known	70_37	missense	SNP	0.292	T
SULT1B1	27284	genome.wustl.edu	37	4	70599967	70599967	+	Missense_Mutation	SNP	G	G	A	rs540095455		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:70599967G>A	ENST00000310613.3	-	5	688	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTGGCATTACGAGCCAGATAA	0.353																																																	0													27.0	28.0	27.0					4																	70599967		2201	4298	6499	SO:0001583	missense	27284			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.391C>T	4.37:g.70599967G>A	ENSP00000308770:p.Arg131Cys		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R131C	ENST00000310613.3	37	c.391	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360745	0.41801	.	.	ENSG00000173597	ENST00000310613;ENST00000510821	T;T	0.33438	1.41;1.41	4.67	1.83	0.25207	Sulfotransferase domain (1);	0.000000	0.43919	D	0.000503	T	0.69895	0.3162	H	0.99777	4.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.69789	-0.5050	10	0.87932	D	0	.	6.6707	0.23066	0.0881:0.0:0.5986:0.3133	.	131	O43704	ST1B1_HUMAN	C	131	ENSP00000308770:R131C;ENSP00000425464:R131C	ENSP00000308770:R131C	R	-	1	0	SULT1B1	70634556	0.984000	0.35163	0.979000	0.43373	0.124000	0.20399	0.913000	0.28611	0.104000	0.17725	0.460000	0.39030	CGT	SULT1B1	-	pfam_Sulfotransferase_dom		0.353	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	G	NM_014465		70599967	-1	no_errors	ENST00000310613	ensembl	human	known	70_37	missense	SNP	1.000	A
SULT4A1	25830	genome.wustl.edu	37	22	44225002	44225002	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:44225002G>A	ENST00000330884.4	-	6	800	c.680C>T	c.(679-681)aCg>aTg	p.T227M	SULT4A1_ENST00000540422.1_Missense_Mutation_p.T114M|SULT4A1_ENST00000249130.5_Missense_Mutation_p.T227M	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GCAGTGCTCCGTCAGGGCTTC	0.677											OREG0026620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21.0	18.0	19.0					22																	44225002		2193	4275	6468	SO:0001583	missense	25830			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.680C>T	22.37:g.44225002G>A	ENSP00000332565:p.Thr227Met	922	B2R7N3|O43728	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.T227M	ENST00000330884.4	37	c.680	CCDS14051.1	22	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842105	0.32513	.	.	ENSG00000130540	ENST00000330884;ENST00000540422;ENST00000249130	D;D;D	0.82255	-1.59;-1.59;-1.59	5.05	-7.92	0.01160	Sulfotransferase domain (1);	0.618943	0.16263	N	0.222124	T	0.67002	0.2847	L	0.34521	1.04	0.09310	N	1	B;B	0.32717	0.381;0.311	B;B	0.29267	0.1;0.079	T	0.55328	-0.8158	10	0.59425	D	0.04	.	10.4157	0.44320	0.3552:0.1115:0.5334:0.0	.	114;227	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	M	227;114;227	ENSP00000332565:T227M;ENSP00000439141:T114M;ENSP00000249130:T227M	ENSP00000249130:T227M	T	-	2	0	SULT4A1	42556335	0.220000	0.23631	0.001000	0.08648	0.467000	0.32768	0.926000	0.28804	-1.770000	0.01295	-0.218000	0.12543	ACG	SULT4A1	-	pfam_Sulfotransferase_dom		0.677	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	G	NM_014351		44225002	-1	no_errors	ENST00000330884	ensembl	human	known	70_37	missense	SNP	0.037	A
SUMO1	7341	genome.wustl.edu	37	2	203096434	203096434	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:203096434G>C	ENST00000392246.2	-	1	169				SUMO1_ENST00000409498.2_Intron|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000409368.1_Intron|SUMO1_ENST00000409205.1_Intron|SUMO1_ENST00000392245.1_Intron|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409712.1_Intron	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										CTTCTCACAAGACTTTCAGGG	0.428																																																	0																																										SO:0001627	intron_variant	7341			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"""ubiquitin-like 1 (sentrin)"", ""SMT3 suppressor of mif two 3 homolog 1 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"""	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.12+6728C>G	2.37:g.203096434G>C			A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Missense_Mutation	SNP	NULL	p.L12V	ENST00000392246.2	37	c.34	CCDS2352.1	2																																																																																			SUMO1	-	NULL		0.428	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2	G	NM_003352		203096434	-1	no_errors	ENST00000409627	ensembl	human	known	70_37	missense	SNP	1.000	C
SUMO3	6612	genome.wustl.edu	37	21	46228470	46228470	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:46228470G>C	ENST00000397893.3	-	4	235	c.236C>G	c.(235-237)tCa>tGa	p.S79*	SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397898.3_Intron					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		ctctttccatgacagtatgat	0.478																																																	0																																										SO:0001587	stop_gained	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397893.3:c.236C>G	21.37:g.46228470G>C	ENSP00000380990:p.Ser79*			Nonsense_Mutation	SNP	pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin	p.S79*	ENST00000397893.3	37	c.236		21	.	.	.	.	.	.	.	.	.	.	G	4.805	0.149764	0.09185	.	.	ENSG00000184900	ENST00000397893	.	.	.	0.995	-1.99	0.07457	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.3917	2.6308	0.04943	0.0:0.2747:0.3632:0.3621	.	.	.	.	X	79	.	ENSP00000380990:S79X	S	-	2	0	SUMO3	45052898	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.112000	0.00599	-0.727000	0.04888	0.460000	0.39030	TCA	SUMO3	-	smart_Ubiquitin		0.478	SUMO3-005	PUTATIVE	basic|exp_conf	protein_coding	SUMO3	HGNC	protein_coding	OTTHUMT00000206564.1	G			46228470	-1	no_errors	ENST00000397893	ensembl	human	putative	70_37	nonsense	SNP	0.001	C
SUPT6H	6830	genome.wustl.edu	37	17	27024935	27024935	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:27024935G>T	ENST00000314616.6	+	32	4618	c.4335G>T	c.(4333-4335)gaG>gaT	p.E1445D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1445D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1445					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATTAGAGGAGCTGCTCATCA	0.517																																																	0													98.0	93.0	95.0					17																	27024935		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4335G>T	17.37:g.27024935G>T	ENSP00000319104:p.Glu1445Asp		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E1445D	ENST00000314616.6	37	c.4335	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557557	0.65425	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.27975	0.815	0.80722	D	1	P	0.41524	0.753	B	0.38225	0.268	T	0.15867	-1.0422	9	0.23302	T	0.38	-23.1953	12.8974	0.58108	0.0742:0.0:0.9258:0.0	.	1445	Q7KZ85	SPT6H_HUMAN	D	1445	.	ENSP00000319104:E1445D	E	+	3	2	SUPT6H	24049062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.772000	0.55325	2.653000	0.90120	0.563000	0.77884	GAG	SUPT6H	-	pirsf_TF_Spt6		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27024935	+1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	T
SVIL	6840	genome.wustl.edu	37	10	29821682	29821682	+	Silent	SNP	C	C	G	rs371198011		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:29821682C>G	ENST00000355867.4	-	8	2366	c.1614G>C	c.(1612-1614)tcG>tcC	p.S538S	SVIL_ENST00000375398.2_Silent_p.S538S|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	538					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCGCTTTTTCGAGGCTTCCC	0.562																																																	0													211.0	203.0	206.0					10																	29821682		2203	4300	6503	SO:0001819	synonymous_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1614G>C	10.37:g.29821682C>G			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.S538	ENST00000355867.4	37	c.1614	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29821682	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	0.000	G
SWT1	54823	genome.wustl.edu	37	1	185175784	185175784	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:185175784C>T	ENST00000367500.4	+	13	2026	c.1861C>T	c.(1861-1863)Cta>Tta	p.L621L	SWT1_ENST00000367501.3_Silent_p.L621L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	621										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACCATGGACTCTACTACATTT	0.299																																																	0													66.0	69.0	68.0					1																	185175784		2202	4295	6497	SO:0001819	synonymous_variant	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1861C>T	1.37:g.185175784C>T			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	smart_PINc_nuc-bd	p.L621	ENST00000367500.4	37	c.1861	CCDS1367.1	1																																																																																			SWT1	-	NULL		0.299	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	C	NM_017673		185175784	+1	no_errors	ENST00000367500	ensembl	human	known	70_37	silent	SNP	0.998	T
SYNE1	23345	genome.wustl.edu	37	6	152599269	152599269	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:152599269C>T	ENST00000367255.5	-	98	19129	c.18528G>A	c.(18526-18528)ctG>ctA	p.L6176L	SYNE1_ENST00000448038.1_Silent_p.L6105L|SYNE1_ENST00000341594.5_Silent_p.L5788L|SYNE1_ENST00000356820.4_Silent_p.L700L|SYNE1_ENST00000423061.1_Silent_p.L6105L|SYNE1_ENST00000265368.4_Silent_p.L6176L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6176					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGCTCCAGCAGGCTCCCCT	0.587										HNSCC(10;0.0054)																																							0													98.0	101.0	100.0					6																	152599269		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18528G>A	6.37:g.152599269C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6176	ENST00000367255.5	37	c.18528	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152599269	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.815	T
SYP	6855	genome.wustl.edu	37	X	49054176	49054176	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:49054176G>A	ENST00000263233.4	-	3	297	c.225C>T	c.(223-225)ttC>ttT	p.F75F	SYP_ENST00000538567.1_Intron|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Silent_p.F75F	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	75	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GAGCACACCTGAAGGGGTACT	0.622																																																	0													58.0	35.0	43.0					X																	49054176		2203	4300	6503	SO:0001819	synonymous_variant	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.225C>T	X.37:g.49054176G>A			B2R7L6|B7Z359|Q6P2F7	Silent	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.F75	ENST00000263233.4	37	c.225	CCDS14321.1	X																																																																																			SYP	-	pfam_MARVEL-like_dom,prints_Synaptophysin/porin		0.622	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	G	NM_003179		49054176	-1	no_errors	ENST00000263233	ensembl	human	known	70_37	silent	SNP	1.000	A
SYT10	341359	genome.wustl.edu	37	12	33559988	33559988	+	Silent	SNP	C	C	T	rs377568629		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:33559988C>T	ENST00000228567.3	-	3	1109	c.813G>A	c.(811-813)gtG>gtA	p.V271V	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000535526.1_Silent_p.V90V|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	271	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATACATCTTCACATAAGGGT	0.358																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	63.0	63.0	63.0		813	3.0	1.0	12		63	0,8600		0,0,4300	no	coding-synonymous	SYT10	NM_198992.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/524	33559988	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.813G>A	12.37:g.33559988C>T			Q495U2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V271	ENST00000228567.3	37	c.813	CCDS8732.1	12																																																																																			SYT10	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom		0.358	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33559988	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	silent	SNP	1.000	T
SYT14	255928	genome.wustl.edu	37	1	210126072	210126072	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:210126072G>A	ENST00000472886.1	+	2	46	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SYT14_ENST00000367019.1_Missense_Mutation_p.G11E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.G11E|SYT14_ENST00000367015.1_5'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.E16K|SYT14_ENST00000537238.1_5'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.G11E			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	11					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACCTGTGGAGTACATGAA	0.303																																																	0													97.0	97.0	97.0					1																	210126072		2203	4298	6501	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.32G>A	1.37:g.210126072G>A	ENSP00000418901:p.Gly11Glu		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E16K	ENST00000472886.1	37	c.46	CCDS31014.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.567587|3.567587	0.65651|0.65651	.|.	.|.	ENSG00000143469|ENSG00000143469	ENST00000422431|ENST00000534859;ENST00000399639;ENST00000367019;ENST00000472886	T|T;T;T;T	0.06294|0.29655	3.32|2.6;1.56;2.65;2.88	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.069566	.|0.56097	.|U	.|0.000025	T|T	0.47414|0.47414	0.1444|0.1444	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D|D;D	0.56035|0.76494	0.974|0.999;0.999	D|D;D	0.70487|0.87578	0.969|0.998;0.998	T|T	0.45804|0.45804	-0.9236|-0.9236	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0358|14.0358	0.64644|0.64644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16|11;11	F5H426|Q8NB59;Q8NB59-6	.|SYT14_HUMAN;.	K|E	16|11	ENSP00000389039:E16K|ENSP00000442891:G11E;ENSP00000445837:G11E;ENSP00000355986:G11E;ENSP00000418901:G11E	ENSP00000389039:E16K|ENSP00000355986:G11E	E|G	+|+	1|2	0|0	SYT14|SYT14	208192695|208192695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.563000|5.563000	0.67352|0.67352	2.443000|2.443000	0.82685|0.82685	0.591000|0.591000	0.81541|0.81541	GAG|GGA	SYT14	-	NULL		0.303	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	G	NM_153262		210126072	+1	no_errors	ENST00000422431	ensembl	human	known	70_37	missense	SNP	1.000	A
SYT17	51760	genome.wustl.edu	37	16	19236108	19236108	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:19236108C>T	ENST00000355377.2	+	7	1574	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	SYT17_ENST00000562034.1_Silent_p.F331F|SYT17_ENST00000568115.1_Silent_p.F331F|SYT17_ENST00000568433.1_Silent_p.F86F|SYT17_ENST00000562711.2_Silent_p.F388F	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	392	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.F392L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATGAATCCTTCAGCTTCAAAG	0.448																																																	1	Substitution - Missense(1)	lung(1)											118.0	117.0	118.0					16																	19236108		2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1176C>T	16.37:g.19236108C>T			O43330|Q9NZ18	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.F392	ENST00000355377.2	37	c.1176	CCDS10575.1	16																																																																																			SYT17	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.448	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	C	NM_016524		19236108	+1	no_errors	ENST00000355377	ensembl	human	known	70_37	silent	SNP	1.000	T
SYT6	148281	genome.wustl.edu	37	1	114680230	114680230	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:114680230C>G	ENST00000610222.1	-	3	1104	c.958G>C	c.(958-960)Gac>Cac	p.D320H	SYT6_ENST00000393296.1_Missense_Mutation_p.D320H|SYT6_ENST00000369547.1_Missense_Mutation_p.D235H|SYT6_ENST00000607941.1_Missense_Mutation_p.D235H|SYT6_ENST00000609117.1_Missense_Mutation_p.D235H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	320	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGCGGTCAAAGTCGAAG	0.552																																																	0													93.0	87.0	89.0					1																	114680230		2203	4300	6503	SO:0001583	missense	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.958G>C	1.37:g.114680230C>G	ENSP00000476396:p.Asp320His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D320H	ENST00000610222.1	37	c.958		1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434508	0.83776	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62096	-0.6926	10	0.87932	D	0	.	19.2901	0.94095	0.0:1.0:0.0:0.0	.	320	Q5T7P8	SYT6_HUMAN	H	235;320;235;320	ENSP00000358560:D235H;ENSP00000376974:D320H;ENSP00000358559:D235H;ENSP00000358558:D320H	ENSP00000358558:D320H	D	-	1	0	SYT6	114481753	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	7.815000	0.86186	2.567000	0.86603	0.650000	0.86243	GAC	SYT6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom		0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	C	NM_205848		114680230	-1	no_errors	ENST00000369545	ensembl	human	known	70_37	missense	SNP	1.000	G
TAF9	6880	genome.wustl.edu	37	5	68647889	68647889	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:68647889C>G	ENST00000380822.4	-	5	569	c.518G>C	c.(517-519)tGa>tCa	p.*173S	TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000512561.1_Nonstop_Mutation_p.*142S|TAF9_ENST00000380818.3_Nonstop_Mutation_p.*170S	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CCTTATAAGTCAAGAGTTATG	0.353																																																	0													61.0	56.0	58.0					5																	68647889		2203	4300	6503	SO:0001578	stop_lost	6880			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.518G>C	5.37:g.68647889C>G			D3DWA3|Q5U0D1|Q9BTS1	Nonstop_Mutation	SNP	pfam_ATPase_AAA_core	p.*173S	ENST00000380822.4	37	c.518	CCDS4001.1	5	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474178	0.26423	.	.	ENSG00000085231	ENST00000380822;ENST00000380818;ENST00000512561	.	.	.	4.73	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6047	0.28095	0.0:0.5684:0.0:0.4316	.	.	.	.	S	173;170;142	.	.	X	-	2	2	TAF9	68683645	0.464000	0.25807	0.743000	0.31040	0.687000	0.40016	0.619000	0.24388	0.052000	0.16007	0.462000	0.41574	TGA	TAF9	-	NULL		0.353	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216793.1	C	NM_003187		68647889	-1	no_errors	ENST00000380822	ensembl	human	known	70_37	nonstop	SNP	0.987	G
TAS1R3	83756	genome.wustl.edu	37	1	1269217	1269217	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1269217C>G	ENST00000339381.5	+	6	1964	c.1932C>G	c.(1930-1932)ctC>ctG	p.L644L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	644					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		ACCTCCCGCTCACGGGCTGCC	0.687																																																	0													19.0	22.0	21.0					1																	1269217		2193	4293	6486	SO:0001819	synonymous_variant	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1932C>G	1.37:g.1269217C>G			Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L644	ENST00000339381.5	37	c.1932	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.687	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	C			1269217	+1	no_errors	ENST00000339381	ensembl	human	known	70_37	silent	SNP	0.871	G
TATDN2	9797	genome.wustl.edu	37	3	10311955	10311955	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:10311955C>T	ENST00000287652.4	+	4	2140	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	TATDN2_ENST00000448281.2_Silent_p.F363F|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	363					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTCTTCCTTCACCACCGACT	0.527																																																	0													166.0	160.0	162.0					3																	10311955		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1089C>T	3.37:g.10311955C>T			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.F363	ENST00000287652.4	37	c.1089	CCDS33698.1	3																																																																																			TATDN2	-	NULL		0.527	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10311955	+1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	0.011	T
TBC1D8B	54885	genome.wustl.edu	37	X	106093419	106093419	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:106093419G>A	ENST00000357242.5	+	12	2176	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D662N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	668	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAATGTGGTGGACTGTTTCTT	0.373																																																	0													226.0	181.0	196.0					X																	106093419		2203	4300	6503	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2002G>A	X.37:g.106093419G>A	ENSP00000349781:p.Asp668Asn		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.D668N	ENST00000357242.5	37	c.2002	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	30	5.052673	0.93793	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.50277	0.75;0.75	5.2	5.2	0.72013	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.83193	0.5201	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91244	0.5024	10	0.87932	D	0	-14.1587	16.2861	0.82722	0.0:0.0:1.0:0.0	.	668	Q0IIM8	TBC8B_HUMAN	N	668;662	ENSP00000349781:D668N;ENSP00000276175:D662N	ENSP00000276175:D662N	D	+	1	0	TBC1D8B	105980075	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	9.869000	0.99810	2.148000	0.66965	0.594000	0.82650	GAC	TBC1D8B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	G	NM_017752		106093419	+1	no_errors	ENST00000357242	ensembl	human	known	70_37	missense	SNP	1.000	A
TBX3	6926	genome.wustl.edu	37	12	115114156	115114156	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:115114156G>A	ENST00000257566.3	-	6	1450	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	TBX3_ENST00000349155.2_Missense_Mutation_p.S334F	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	354					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCTGGAGAAGAAGCCTG	0.512																																																	0													123.0	117.0	119.0					12																	115114156		2203	4300	6503	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1061C>T	12.37:g.115114156G>A	ENSP00000257566:p.Ser354Phe		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S354F	ENST00000257566.3	37	c.1061	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007034	0.74932	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89050	-2.46;-2.45	4.69	4.69	0.59074	Transcription factor, T-box, region of unknown function (1);	0.858645	0.10920	N	0.619542	D	0.92254	0.7543	L	0.52573	1.65	0.58432	D	0.999996	P;D	0.53462	0.898;0.96	D;P	0.64321	0.924;0.827	D	0.90285	0.4318	10	0.66056	D	0.02	.	13.521	0.61568	0.0:0.1697:0.8303:0.0	.	334;354	O15119-2;O15119	.;TBX3_HUMAN	F	334;354;354	ENSP00000257567:S334F;ENSP00000257566:S354F	ENSP00000257566:S354F	S	-	2	0	TBX3	113598539	1.000000	0.71417	0.524000	0.27887	0.976000	0.68499	6.822000	0.75277	2.297000	0.77311	0.655000	0.94253	TCT	TBX3	-	pfam_TBX		0.512	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	G	NM_016569, NM_005996		115114156	-1	no_errors	ENST00000257566	ensembl	human	known	70_37	missense	SNP	0.991	A
TCAIM	285343	genome.wustl.edu	37	3	44437913	44437913	+	Silent	SNP	C	C	T	rs145867678		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:44437913C>T	ENST00000342649.4	+	7	1144	c.717C>T	c.(715-717)atC>atT	p.I239I	TCAIM_ENST00000417237.1_Silent_p.I239I	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	239						mitochondrion (GO:0005739)											GCTGGGGCATCGCCCACCGCT	0.488																																																	0								C		1,4405		0,1,2202	40.0	37.0	38.0		717	-7.5	0.0	3	dbSNP_134	38	0,8600		0,0,4300	no	coding-synonymous	C3orf23	NM_173826.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		239/497	44437913	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.717C>T	3.37:g.44437913C>T			A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	NULL	p.I239	ENST00000342649.4	37	c.717	CCDS2712.1	3																																																																																			TCAIM	-	NULL		0.488	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	C	NM_173826		44437913	+1	no_errors	ENST00000342649	ensembl	human	known	70_37	silent	SNP	0.012	T
TCEA2	6919	genome.wustl.edu	37	20	62699457	62699457	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:62699457C>G	ENST00000343484.5	+	4	468	c.299C>G	c.(298-300)tCg>tGg	p.S100W	TCEA2_ENST00000361317.2_Missense_Mutation_p.S73W|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_Missense_Mutation_p.S100W	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	100					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCCACGTCCTCGAGGGATGCC	0.627																																																	0													47.0	43.0	44.0					20																	62699457		2203	4300	6503	SO:0001583	missense	6919			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.299C>G	20.37:g.62699457C>G	ENSP00000343515:p.Ser100Trp		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.S100W	ENST00000343484.5	37	c.299	CCDS13553.1	20	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575331	0.45902	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000395053;ENST00000339217;ENST00000415602;ENST00000440819;ENST00000458442	.	.	.	3.21	3.21	0.36854	.	0.369733	0.25555	N	0.029878	T	0.54498	0.1862	L	0.32530	0.975	0.31270	N	0.691805	P;P;D;D	0.76494	0.954;0.954;0.999;0.999	D;D;D;D	0.71414	0.922;0.922;0.973;0.963	T	0.59867	-0.7373	9	0.87932	D	0	-12.6751	12.3256	0.55009	0.0:1.0:0.0:0.0	.	100;100;73;100	Q15560;Q6IB64;B3KNM1;Q86VL0	TCEA2_HUMAN;.;.;.	W	73;100;100;73;73;73;73	.	ENSP00000339432:S73W	S	+	2	0	TCEA2	62169901	0.000000	0.05858	0.010000	0.14722	0.384000	0.30261	0.643000	0.24750	2.104000	0.64026	0.561000	0.74099	TCG	TCEA2	-	pirsf_TF_IIS-rel,tigrfam_TFSII		0.627	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	C	NM_198723		62699457	+1	no_errors	ENST00000343484	ensembl	human	known	70_37	missense	SNP	0.204	G
TCERG1L	256536	genome.wustl.edu	37	10	132961448	132961448	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:132961448C>A	ENST00000368642.4	-	6	1056	c.971G>T	c.(970-972)gGa>gTa	p.G324V		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	324										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCTGTCCTCTCCTCCCCCCAG	0.562																																																	0													35.0	33.0	34.0					10																	132961448		2197	4292	6489	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.971G>T	10.37:g.132961448C>A	ENSP00000357631:p.Gly324Val		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.G324V	ENST00000368642.4	37	c.971	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	C	6.808	0.518113	0.13005	.	.	ENSG00000176769	ENST00000368642	T	0.25085	1.82	3.95	3.95	0.45737	.	0.218384	0.30940	N	0.008567	T	0.24005	0.0581	N	0.19112	0.55	0.28772	N	0.900322	D	0.54601	0.967	P	0.52823	0.71	T	0.03597	-1.1021	10	0.30854	T	0.27	-3.3201	11.372	0.49704	0.0:1.0:0.0:0.0	.	324	Q5VWI1	TCRGL_HUMAN	V	324	ENSP00000357631:G324V	ENSP00000357631:G324V	G	-	2	0	TCERG1L	132851438	0.363000	0.24989	0.235000	0.24058	0.077000	0.17291	1.071000	0.30666	2.045000	0.60652	0.655000	0.94253	GGA	TCERG1L	-	NULL		0.562	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	C	NM_174937		132961448	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.304	A
TCHH	7062	genome.wustl.edu	37	1	152084508	152084508	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:152084508C>G	ENST00000368804.1	-	2	1184	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	395	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctcagctgctgct	0.721																																																	0													1.0	1.0	1.0					1																	152084508		144	538	682	SO:0001819	synonymous_variant	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1185G>C	1.37:g.152084508C>G			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L395	ENST00000368804.1	37	c.1185	CCDS41396.1	1																																																																																			TCHH	-	NULL		0.721	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152084508	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	silent	SNP	0.011	G
TDH	157739	genome.wustl.edu	37	8	11218933	11218933	+	RNA	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:11218933C>A	ENST00000534302.1	+	0	472									L-threonine dehydrogenase (pseudogene)																		TTACAAGAATCTTCGGGAGAT	0.443																																																	0																																												157739			AJ301562		8p23.1	2013-09-26	2013-09-26		ENSG00000154316	ENSG00000154316		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	15547	pseudogene	pseudogene	"""short chain dehydrogenase/reductase family 14E, member 1 (pseudogene)"""	615174	"""L-threonine dehydrogenase"""			11896452, 12361482, 19027726	Standard	NR_001578		Approved	FLJ25033, SDR14E1P	uc003wtq.1	Q8IZJ6	OTTHUMG00000165365		8.37:g.11218933C>A				RNA	SNP	-	NULL	ENST00000534302.1	37	NULL		8																																																																																			TDH	-	-		0.443	TDH-002	KNOWN	basic	processed_transcript	TDH	HGNC	pseudogene	OTTHUMT00000385807.1	C	NM_152566		11218933	+1	no_errors	ENST00000525246	ensembl	human	known	70_37	rna	SNP	1.000	A
TDP1	55775	genome.wustl.edu	37	14	90429894	90429894	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:90429894G>A	ENST00000335725.4	+	3	686	c.436G>A	c.(436-438)Gag>Aag	p.E146K	TDP1_ENST00000555880.1_Missense_Mutation_p.E146K|TDP1_ENST00000393452.3_Missense_Mutation_p.E146K|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.E146K|TDP1_ENST00000555565.1_Intron	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	146					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGACGAGTATGAGACATCAGG	0.512								Repair of DNA-protein crosslinks																																									0													58.0	52.0	54.0					14																	90429894		2203	4300	6503	SO:0001583	missense	55775			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.436G>A	14.37:g.90429894G>A	ENSP00000337353:p.Glu146Lys		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.E146K	ENST00000335725.4	37	c.436	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340735	0.60963	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T;T	0.32753	1.55;1.55;1.55;1.55;1.55;1.44;1.5;1.5;1.73;1.55	5.36	4.47	0.54385	.	0.100250	0.64402	N	0.000002	T	0.21062	0.0507	L	0.52364	1.645	0.25444	N	0.988069	B;B;B;B	0.27997	0.007;0.004;0.197;0.002	B;B;B;B	0.22386	0.006;0.003;0.039;0.003	T	0.24764	-1.0151	10	0.07030	T	0.85	-5.9758	7.1259	0.25471	0.1498:0.1408:0.7094:0.0	.	146;146;146;146	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	K	146;146;146;47;146;146;146;146;146;146	ENSP00000377098:E146K;ENSP00000450872:E146K;ENSP00000377099:E146K;ENSP00000450708:E47K;ENSP00000337353:E146K;ENSP00000452279:E146K;ENSP00000451358:E146K;ENSP00000452333:E146K;ENSP00000452183:E146K;ENSP00000450628:E146K	ENSP00000337353:E146K	E	+	1	0	TDP1	89499647	0.990000	0.36364	0.051000	0.19133	0.663000	0.39108	2.693000	0.47027	1.243000	0.43853	0.561000	0.74099	GAG	TDP1	-	NULL		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	G	NM_018319		90429894	+1	no_errors	ENST00000335725	ensembl	human	known	70_37	missense	SNP	0.025	A
TDRD1	56165	genome.wustl.edu	37	10	115973275	115973275	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:115973275C>A	ENST00000369280.1	+	15	2462	c.2002C>A	c.(2002-2004)Cta>Ata	p.L668I	TDRD1_ENST00000422662.1_Missense_Mutation_p.L272I|TDRD1_ENST00000369282.1_Missense_Mutation_p.L668I|TDRD1_ENST00000369281.2_Missense_Mutation_p.L611I|TDRD1_ENST00000251864.2_Missense_Mutation_p.L668I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	668					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAAGTTCTCCTAGATGCAGG	0.438																																																	0													155.0	140.0	145.0					10																	115973275		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2002C>A	10.37:g.115973275C>A	ENSP00000358286:p.Leu668Ile		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.L668I	ENST00000369280.1	37	c.2002		10	.	.	.	.	.	.	.	.	.	.	A	0.867	-0.733180	0.03135	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.15256	3.22;3.22;2.44;2.62;3.22	5.8	-2.65	0.06095	.	0.958745	0.08714	N	0.904598	T	0.03915	0.0110	N	0.01493	-0.835	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001	T	0.33929	-0.9849	10	0.02654	T	1	-0.0768	3.9078	0.09190	0.2138:0.476:0.1243:0.1859	.	272;668;611;668;611	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	I	668;668;611;272;668	ENSP00000358288:L668I;ENSP00000251864:L668I;ENSP00000358287:L611I;ENSP00000402794:L272I;ENSP00000358286:L668I	ENSP00000251864:L668I	L	+	1	2	TDRD1	115963265	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.302000	0.08221	-1.202000	0.02655	-0.362000	0.07510	CTA	TDRD1	-	NULL		0.438	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	C			115973275	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.000	A
TECPR1	25851	genome.wustl.edu	37	7	97860411	97860411	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97860411G>C	ENST00000447648.2	-	15	2443	c.2144C>G	c.(2143-2145)tCt>tGt	p.S715C	TECPR1_ENST00000379795.3_Missense_Mutation_p.S716C|TECPR1_ENST00000542604.1_Missense_Mutation_p.S645C|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	715	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCGCAGCAAGACAGGCTGAG	0.692																																																	0													19.0	25.0	23.0					7																	97860411		2127	4216	6343	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2144C>G	7.37:g.97860411G>C	ENSP00000404923:p.Ser715Cys		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S716C	ENST00000447648.2	37	c.2147	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832210	0.32421	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.34072	1.39;1.4;1.38	4.7	2.67	0.31697	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.122489	0.56097	D	0.000024	T	0.27900	0.0687	L	0.31664	0.95	0.37062	D	0.898121	B;B	0.21452	0.056;0.034	B;B	0.24848	0.056;0.012	T	0.24261	-1.0165	10	0.42905	T	0.14	-27.3874	13.4927	0.61405	0.0:0.2987:0.7013:0.0	.	645;715	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	C	715;716;645	ENSP00000404923:S715C;ENSP00000369121:S716C;ENSP00000441121:S645C	ENSP00000369121:S716C	S	-	2	0	TECPR1	97698347	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	3.284000	0.51708	1.061000	0.40601	0.462000	0.41574	TCT	TECPR1	-	smart_Beta-propeller_rpt_TECPR		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	G	NM_015395		97860411	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	missense	SNP	1.000	C
TECPR1	25851	genome.wustl.edu	37	7	97862862	97862862	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:97862862G>C	ENST00000447648.2	-	11	1842	c.1543C>G	c.(1543-1545)Ctg>Gtg	p.L515V	TECPR1_ENST00000379795.3_Missense_Mutation_p.L515V|TECPR1_ENST00000542604.1_Missense_Mutation_p.L445V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	515					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGCCCCAGAGAGGAGAGG	0.677																																																	0													12.0	17.0	15.0					7																	97862862		1882	4109	5991	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1543C>G	7.37:g.97862862G>C	ENSP00000404923:p.Leu515Val		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.L515V	ENST00000447648.2	37	c.1543	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	G	1.612	-0.523782	0.04141	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.30981	1.52;1.51;1.53	4.7	2.84	0.33178	.	0.633514	0.15270	N	0.271277	T	0.21509	0.0518	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.30870	0.126;0.298	B;B	0.27380	0.079;0.036	T	0.12451	-1.0547	10	0.38643	T	0.18	-9.4359	7.9443	0.29976	0.0849:0.0:0.754:0.1611	.	445;515	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	V	515;515;445	ENSP00000404923:L515V;ENSP00000369121:L515V;ENSP00000441121:L445V	ENSP00000369121:L515V	L	-	1	2	TECPR1	97700798	0.062000	0.20869	0.004000	0.12327	0.003000	0.03518	0.793000	0.26944	0.960000	0.38005	-0.521000	0.04368	CTG	TECPR1	-	NULL		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	G	NM_015395		97862862	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	missense	SNP	0.087	C
TEP1	7011	genome.wustl.edu	37	14	20854746	20854746	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20854746G>A	ENST00000262715.5	-	19	2761	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	TEP1_ENST00000556935.1_Silent_p.F799F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	907					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCATGTCTCGGAAAGTGGATG	0.597																																																	0													40.0	40.0	40.0					14																	20854746		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2721C>T	14.37:g.20854746G>A			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F907	ENST00000262715.5	37	c.2721	CCDS9548.1	14																																																																																			TEP1	-	NULL		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20854746	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	1.000	A
TEX10	54881	genome.wustl.edu	37	9	103109610	103109610	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:103109610G>C	ENST00000374902.4	-	3	435	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q90E|TEX10_ENST00000537512.1_Missense_Mutation_p.Q22E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	87						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AATGGGTATTGAGACAAAAGG	0.343																																																	0													138.0	148.0	144.0					9																	103109610		2203	4300	6503	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.259C>G	9.37:g.103109610G>C	ENSP00000364037:p.Gln87Glu		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q87E	ENST00000374902.4	37	c.259	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947678	0.18356	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	T;T;T	0.65364	-0.15;-0.15;-0.15	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.510834	0.22203	N	0.063202	T	0.48150	0.1484	L	0.46614	1.455	0.30633	N	0.757259	P;P;P;B	0.38370	0.495;0.495;0.628;0.304	B;B;B;B	0.31016	0.09;0.034;0.123;0.05	T	0.51818	-0.8657	10	0.06494	T	0.89	-7.2734	14.3279	0.66532	0.0:0.0:0.8517:0.1483	.	22;90;87;87	B7Z9D5;B4DYV2;B4DQR0;Q9NXF1	.;.;.;TEX10_HUMAN	E	90;87;87;22	ENSP00000444555:Q90E;ENSP00000364037:Q87E;ENSP00000438120:Q22E	ENSP00000364037:Q87E	Q	-	1	0	TEX10	102149431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.092000	0.41700	2.588000	0.87417	0.591000	0.81541	CAA	TEX10	-	superfamily_ARM-type_fold		0.343	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103109610	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	0.898	C
TFE3	7030	genome.wustl.edu	37	X	48891275	48891275	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48891275C>G	ENST00000315869.7	-	7	1285	c.1026G>C	c.(1024-1026)ttG>ttC	p.L342F	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	342					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCCGTTCCTTCAAAAGGGCCT	0.552			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													104.0	83.0	90.0					X																	48891275		2203	4300	6503	SO:0001583	missense	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1026G>C	X.37:g.48891275C>G	ENSP00000314129:p.Leu342Phe		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L342F	ENST00000315869.7	37	c.1026	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813737	0.70912	.	.	ENSG00000068323	ENST00000315869	D	0.97620	-4.46	5.68	5.68	0.88126	.	0.249007	0.36303	N	0.002674	D	0.94608	0.8262	L	0.40543	1.245	0.41211	D	0.986441	D	0.54772	0.968	P	0.45343	0.477	D	0.93846	0.7141	10	0.51188	T	0.08	-4.8136	9.6649	0.39979	0.0:0.9043:0.0:0.0957	.	342	P19532	TFE3_HUMAN	F	342	ENSP00000314129:L342F	ENSP00000314129:L342F	L	-	3	2	TFE3	48778219	0.006000	0.16342	1.000000	0.80357	0.991000	0.79684	0.125000	0.15749	2.393000	0.81446	0.462000	0.41574	TTG	TFE3	-	NULL		0.552	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	C	NM_006521		48891275	-1	no_errors	ENST00000315869	ensembl	human	known	70_37	missense	SNP	1.000	G
NELFCD	51497	genome.wustl.edu	37	20	57564672	57564672	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:57564672G>C	ENST00000344018.3	+	6	688	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	NELFCD_ENST00000602795.1_Missense_Mutation_p.E230Q			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	221					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											AGAAAACCTTGAAAAAAATCT	0.453																																																	0													109.0	124.0	119.0					20																	57564672		2203	4300	6503	SO:0001583	missense	51497			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.661G>C	20.37:g.57564672G>C	ENSP00000342300:p.Glu221Gln		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.E221Q	ENST00000344018.3	37	c.661		20	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201491	0.58234	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	N	0.02391	-0.57	0.58432	D	0.999998	D;B;P	0.62365	0.991;0.094;0.872	P;B;P	0.62089	0.898;0.15;0.478	T	0.51942	-0.8641	9	0.16420	T	0.52	-24.8598	18.0843	0.89453	0.0:0.0:1.0:0.0	.	221;230;221	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	Q	221	.	ENSP00000342300:E221Q	E	+	1	0	TH1L	56998067	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	9.410000	0.97335	2.717000	0.92951	0.655000	0.94253	GAA	TH1L	-	pfam_TH1		0.453	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	HGNC	protein_coding		G	NM_198976		57564672	+1	no_errors	ENST00000344018	ensembl	human	known	70_37	missense	SNP	1.000	C
THADA	63892	genome.wustl.edu	37	2	43768398	43768398	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:43768398C>T	ENST00000405006.4	-	21	3515	c.3164G>A	c.(3163-3165)aGa>aAa	p.R1055K	THADA_ENST00000415080.2_Missense_Mutation_p.R765K|THADA_ENST00000330266.7_Missense_Mutation_p.R765K|THADA_ENST00000405975.2_Missense_Mutation_p.R1055K	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1055										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTCATACTTCTCCAACAACA	0.418																																																	0													231.0	231.0	231.0					2																	43768398		2017	4191	6208	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3164G>A	2.37:g.43768398C>T	ENSP00000385995:p.Arg1055Lys		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1055K	ENST00000405006.4	37	c.3164	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.509160|4.509160	0.85282|0.85282	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.55760	.|0.5;0.5;0.5;0.5	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.81942|0.81942	2.565|2.565	0.45502|0.45502	D|D	0.998462|0.998462	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.994;0.997;0.994	T|T	0.75852|0.75852	-0.3171|-0.3171	5|10	.|0.49607	.|T	.|0.09	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|765;1056;765;1055	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	K|K	369|765;1055;1056;765;1055	.|ENSP00000331105:R765K;ENSP00000386088:R1055K;ENSP00000416048:R765K;ENSP00000385995:R1055K	.|ENSP00000331105:R765K	E|R	-|-	1|2	0|0	THADA|THADA	43621902|43621902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.540000|4.540000	0.60664|0.60664	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	GAA|AGA	THADA	-	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43768398	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	1.000	T
THNSL2	55258	genome.wustl.edu	37	2	88484895	88484895	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:88484895C>G	ENST00000324166.5	+	7	2817	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	THNSL2_ENST00000358591.2_Missense_Mutation_p.Q376E|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000449349.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	376					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCATCACCCAGACCATGGG	0.582																																																	0													40.0	46.0	44.0					2																	88484895		2192	4300	6492	SO:0001583	missense	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1126C>G	2.37:g.88484895C>G	ENSP00000327323:p.Gln376Glu		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.Q376E	ENST00000324166.5	37	c.1126	CCDS2002.2	2	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042124	0.01997	.	.	ENSG00000144115	ENST00000358591;ENST00000324166	D;D	0.95756	-3.8;-3.8	5.81	0.673	0.17941	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.723855	0.13592	N	0.376496	D	0.83124	0.5186	N	0.04275	-0.24	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.71787	-0.4487	10	0.02654	T	1	.	5.0708	0.14606	0.3212:0.3035:0.3126:0.0627	.	376	Q86YJ6	THNS2_HUMAN	E	376	ENSP00000351402:Q376E;ENSP00000327323:Q376E	ENSP00000327323:Q376E	Q	+	1	0	THNSL2	88266010	0.462000	0.25791	0.355000	0.25773	0.424000	0.31475	1.151000	0.31651	-0.158000	0.11040	-0.182000	0.12963	CAG	THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like		0.582	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	C	NM_018271		88484895	+1	no_errors	ENST00000324166	ensembl	human	known	70_37	missense	SNP	0.025	G
THSD1	55901	genome.wustl.edu	37	13	52971931	52971931	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:52971931G>T	ENST00000258613.4	-	3	635	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.Q153K|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	153					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CACAGTGGTTGACTGGTAAAT	0.502																																																	0													104.0	91.0	95.0					13																	52971931		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.457C>A	13.37:g.52971931G>T	ENSP00000258613:p.Gln153Lys		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Q153K	ENST00000258613.4	37	c.457	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105561	0.20632	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17691	2.26;2.45	5.54	4.69	0.59074	.	0.065424	0.64402	D	0.000013	T	0.23965	0.0580	M	0.70595	2.14	0.80722	D	1	B;B	0.30914	0.3;0.245	B;B	0.33454	0.164;0.118	T	0.02581	-1.1138	10	0.48119	T	0.1	-12.767	14.4043	0.67071	0.0:0.4109:0.5891:0.0	.	153;153	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	K	153	ENSP00000340650:Q153K;ENSP00000258613:Q153K	ENSP00000258613:Q153K	Q	-	1	0	THSD1	51869932	0.997000	0.39634	0.024000	0.17045	0.030000	0.12068	3.358000	0.52284	1.322000	0.45245	0.561000	0.74099	CAA	THSD1	-	NULL		0.502	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	G			52971931	-1	no_errors	ENST00000258613	ensembl	human	known	70_37	missense	SNP	0.956	T
THSD7A	221981	genome.wustl.edu	37	7	11446027	11446027	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:11446027G>A	ENST00000423059.4	-	22	4388	c.4137C>T	c.(4135-4137)ttC>ttT	p.F1379F	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1379	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACTTTGCTGAAATCATCAG	0.443										HNSCC(18;0.044)																																							0													100.0	101.0	101.0					7																	11446027		1946	4160	6106	SO:0001819	synonymous_variant	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4137C>T	7.37:g.11446027G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.F1379	ENST00000423059.4	37	c.4137	CCDS47543.1	7																																																																																			THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.443	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11446027	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	silent	SNP	0.929	A
TIE1	7075	genome.wustl.edu	37	1	43785209	43785209	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:43785209G>C	ENST00000372476.3	+	19	3186				TIE1_ENST00000433781.2_Intron|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGTGAGTGTGAGATGAGAGG	0.542																																																	0													144.0	135.0	138.0					1																	43785209		2203	4300	6503	SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3107+9G>C	1.37:g.43785209G>C			B5A949|B5A950	RNA	SNP	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.542	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43785209	+1	no_errors	ENST00000473014	ensembl	human	known	70_37	rna	SNP	0.000	C
TJP2	9414	genome.wustl.edu	37	9	71831295	71831295	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:71831295G>C	ENST00000377245.4	+	3	363	c.155G>C	c.(154-156)aGa>aCa	p.R52T	TJP2_ENST00000535702.1_Missense_Mutation_p.R56T|TJP2_ENST00000348208.4_Missense_Mutation_p.R52T|TJP2_ENST00000539225.1_Missense_Mutation_p.R83T|TJP2_ENST00000377259.1_Missense_Mutation_p.R29T|TJP2_ENST00000453658.2_Missense_Mutation_p.R29T|TJP2_ENST00000265384.7_Missense_Mutation_p.R52T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	52	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCCGGAGGCAGAGACAACCCC	0.463																																																	0													96.0	87.0	90.0					9																	71831295		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.155G>C	9.37:g.71831295G>C	ENSP00000366453:p.Arg52Thr		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.R83T	ENST00000377245.4	37	c.248	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427722	0.83667	.	.	ENSG00000119139	ENST00000453658;ENST00000377259;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.047167	0.85682	D	0.000000	T	0.44307	0.1287	L	0.49350	1.555	0.49915	D	0.999832	B;D;P;D;P	0.71674	0.137;0.998;0.719;0.998;0.916	B;D;P;D;P	0.72982	0.2;0.963;0.637;0.979;0.768	T	0.25293	-1.0136	10	0.87932	D	0	.	13.2787	0.60202	0.0726:0.0:0.9274:0.0	.	83;56;52;52;52	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	T	29;29;29;52;52;52;56;83	ENSP00000392178:R29T;ENSP00000366469:R29T;ENSP00000402941:R29T;ENSP00000366453:R52T;ENSP00000345893:R52T;ENSP00000265384:R52T;ENSP00000442090:R56T;ENSP00000438262:R83T	ENSP00000265384:R52T	R	+	2	0	TJP2	71021115	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.882000	0.63121	2.805000	0.96524	0.655000	0.94253	AGA	TJP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.463	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71831295	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C
TJP2	9414	genome.wustl.edu	37	9	71855018	71855018	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:71855018G>C	ENST00000377245.4	+	17	2729	c.2521G>C	c.(2521-2523)Gat>Cat	p.D841H	TJP2_ENST00000535702.1_Missense_Mutation_p.D845H|TJP2_ENST00000348208.4_Missense_Mutation_p.D841H|TJP2_ENST00000539225.1_Missense_Mutation_p.D872H|TJP2_ENST00000453658.2_Missense_Mutation_p.D818H|TJP2_ENST00000265384.7_Missense_Mutation_p.D841H	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	841	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAGTTATTTGATCAAGCCAA	0.353																																																	0													66.0	65.0	65.0					9																	71855018		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2521G>C	9.37:g.71855018G>C	ENSP00000366453:p.Asp841His		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.D872H	ENST00000377245.4	37	c.2614	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908251	0.92107	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.93	5.93	0.95920	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.056744	0.64402	D	0.000001	T	0.67126	0.2860	M	0.76170	2.325	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.886;0.997;0.997;0.999	D;P;D;D;D	0.70935	0.943;0.881;0.912;0.971;0.957	T	0.67745	-0.5591	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	872;845;841;841;841	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	H	818;841;841;841;845;872	ENSP00000392178:D818H;ENSP00000366453:D841H;ENSP00000345893:D841H;ENSP00000265384:D841H;ENSP00000442090:D845H;ENSP00000438262:D872H	ENSP00000265384:D841H	D	+	1	0	TJP2	71044838	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.903000	0.87398	2.826000	0.97356	0.655000	0.94253	GAT	TJP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.353	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	G	NM_201629		71855018	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	C
TLE4	7091	genome.wustl.edu	37	9	82323087	82323087	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:82323087G>A	ENST00000376552.2	+	12	2009	c.991G>A	c.(991-993)Gat>Aat	p.D331N	TLE4_ENST00000265284.6_Missense_Mutation_p.D306N|TLE4_ENST00000376544.3_Missense_Mutation_p.D262N|TLE4_ENST00000376537.4_Missense_Mutation_p.D363N|TLE4_ENST00000376520.4_Missense_Mutation_p.D363N|TLE4_ENST00000376534.4_De_novo_Start_OutOfFrame	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	331					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCACGAACTGATGCGCCCAC	0.433																																																	0													89.0	83.0	85.0					9																	82323087		1864	4094	5958	SO:0001583	missense	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.991G>A	9.37:g.82323087G>A	ENSP00000365735:p.Asp331Asn		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.D363N	ENST00000376552.2	37	c.1087	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.930924	0.97116	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347;ENST00000467142	T;T;T;T;T;T;T;T	0.46451	0.87;0.92;0.94;0.94;0.97;1.22;1.74;1.3	6.04	6.04	0.98038	.	0.136331	0.64402	D	0.000004	T	0.59972	0.2233	M	0.70595	2.14	0.80722	D	1	P;B;P;B	0.43826	0.818;0.447;0.614;0.426	P;B;P;B	0.51777	0.679;0.16;0.627;0.309	T	0.56968	-0.7891	10	0.52906	T	0.07	-19.5753	20.5948	0.99439	0.0:0.0:1.0:0.0	.	306;262;363;331	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	N	331;262;363;363;306;297;150;59	ENSP00000365735:D331N;ENSP00000365727:D262N;ENSP00000365703:D363N;ENSP00000365720:D363N;ENSP00000265284:D306N;ENSP00000409313:D297N;ENSP00000417844:D150N;ENSP00000418409:D59N	ENSP00000265284:D306N	D	+	1	0	TLE4	81512907	1.000000	0.71417	0.850000	0.33497	0.982000	0.71751	9.772000	0.98984	2.873000	0.98535	0.563000	0.77884	GAT	TLE4	-	NULL		0.433	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	G	XM_212237		82323087	+1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	1.000	A
TLE6	79816	genome.wustl.edu	37	19	2986844	2986844	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:2986844G>C	ENST00000246112.4	+	6	441	c.240G>C	c.(238-240)caG>caC	p.Q80H	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_5'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	80					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		ACGTCTTACAGATTGTGGAGA	0.498																																																	0													81.0	70.0	74.0					19																	2986844		692	1591	2283	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.240G>C	19.37:g.2986844G>C	ENSP00000246112:p.Gln80His		J3KMZ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.Q80H	ENST00000246112.4	37	c.240	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600865	0.28534	.	.	ENSG00000104953	ENST00000447920;ENST00000453329;ENST00000246112	T	0.24908	1.83	2.1	-0.206	0.13193	.	.	.	.	.	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999999	D	0.53885	0.963	P	0.55391	0.775	T	0.12293	-1.0553	9	0.66056	D	0.02	.	4.1099	0.10053	0.4311:0.0:0.5689:0.0	.	80	C9JGZ7	.	H	80	ENSP00000246112:Q80H	ENSP00000246112:Q80H	Q	+	3	2	TLE6	2937844	0.002000	0.14202	0.000000	0.03702	0.091000	0.18340	1.097000	0.30988	0.013000	0.14918	0.542000	0.68232	CAG	TLE6	-	NULL		0.498	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	G	NM_024760		2986844	+1	no_errors	ENST00000246112	ensembl	human	known	70_37	missense	SNP	0.000	C
TLL2	7093	genome.wustl.edu	37	10	98205860	98205860	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:98205860C>T	ENST00000357947.3	-	3	577	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	118					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCAGCTTCCTTGGTGCCA	0.483																																																	0													243.0	211.0	222.0					10																	98205860		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.352G>A	10.37:g.98205860C>T	ENSP00000350630:p.Glu118Lys		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	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.E118K	ENST00000357947.3	37	c.352	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	6.844	0.524938	0.13066	.	.	ENSG00000095587	ENST00000357947	T	0.14144	2.53	4.98	2.63	0.31362	.	1.370010	0.05421	N	0.544263	T	0.05090	0.0136	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.11182	T	0.66	.	4.2643	0.10756	0.0:0.6155:0.2322:0.1523	.	118	Q9Y6L7	TLL2_HUMAN	K	118	ENSP00000350630:E118K	ENSP00000350630:E118K	E	-	1	0	TLL2	98195850	0.011000	0.17503	0.003000	0.11579	0.604000	0.37047	0.978000	0.29488	1.192000	0.43071	0.555000	0.69702	GAA	TLL2	-	pirsf_BMP_1/tolloid-like		0.483	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98205860	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	missense	SNP	0.004	T
TMC6	11322	genome.wustl.edu	37	17	76113951	76113951	+	Silent	SNP	G	G	A	rs569444280		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:76113951G>A	ENST00000590602.1	-	16	2112	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.V230V|TMC6_ENST00000591436.1_Silent_p.V230V|TMC6_ENST00000322914.3_Silent_p.V651V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Silent_p.V651V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	651					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCGTGAGGAAGACGGTGCTCA	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16506	0.0		0.0	False		,,,				2504	0.0																0													36.0	31.0	33.0					17																	76113951		2200	4297	6497	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1953C>T	17.37:g.76113951G>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.V651	ENST00000590602.1	37	c.1953	CCDS32748.1	17																																																																																			TMC6	-	NULL		0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76113951	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM120A	83862	genome.wustl.edu	37	7	75621563	75621563	+	RNA	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:75621563G>C	ENST00000338761.4	-	0	304				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											CCTCTGCTGGGAGGGAGGGTT	0.587																																																	0													55.0	61.0	59.0					7																	75621563		1928	4118	6046			83862			AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621563G>C			Q86TE9|Q8N6P1	RNA	SNP	-	NULL	ENST00000338761.4	37	NULL		7																																																																																			TMEM120A	-	-		0.587	TMEM120A-001	KNOWN	basic	processed_transcript	TMEM120A	HGNC	polymorphic_pseudogene	OTTHUMT00000344834.4	G	NM_031925		75621563	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	SNP	0.111	C
TMEM132C	92293	genome.wustl.edu	37	12	129178524	129178524	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:129178524G>A	ENST00000435159.2	+	6	1600	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	TMEM132C_ENST00000537538.1_5'UTR|TMEM132C_ENST00000315208.8_Missense_Mutation_p.D150N	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	534						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CGAGGTCTCTGACACGGAGCT	0.577																																																	0													29.0	28.0	29.0					12																	129178524		692	1591	2283	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1600G>A	12.37:g.129178524G>A	ENSP00000410852:p.Asp534Asn		Q69YX8	Missense_Mutation	SNP	NULL	p.D534N	ENST00000435159.2	37	c.1600		12	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964599	0.92791	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	T;T	0.25912	1.77;1.77	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	T	0.59514	0.2199	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68519	-0.5387	10	0.66056	D	0.02	.	18.3146	0.90215	0.0:0.0:1.0:0.0	.	534	Q8N3T6	T132C_HUMAN	N	534;150	ENSP00000410852:D534N;ENSP00000324458:D150N	ENSP00000324458:D150N	D	+	1	0	TMEM132C	127744477	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.510000	0.98004	2.318000	0.78349	0.467000	0.42956	GAC	TMEM132C	-	NULL		0.577	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		G	XM_044062		129178524	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	0.998	A
TMEM141	85014	genome.wustl.edu	37	9	139686128	139686128	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139686128G>C	ENST00000290079.8	+	2	70				RP11-216L13.17_ENST00000456614.2_Intron|TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		GAAGAGGGCAGGGGATCGAGC	0.637											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62.0	56.0	58.0					9																	139686128		2203	4300	6503	SO:0001627	intron_variant	85014			BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.55-35G>C	9.37:g.139686128G>C		1650	A6NIZ7|Q5T5R5	RNA	SNP	-	NULL	ENST00000290079.8	37	NULL	CCDS7007.1	9																																																																																			TMEM141	-	-		0.637	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM141	HGNC	protein_coding	OTTHUMT00000055119.1	G	NM_032928		139686128	+1	no_errors	ENST00000465017	ensembl	human	known	70_37	rna	SNP	0.005	C
TMEM141	85014	genome.wustl.edu	37	9	139686777	139686777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:139686777G>T	ENST00000290079.8	+	4	296	c.280G>T	c.(280-282)Gag>Tag	p.E94*	RP11-216L13.17_ENST00000456614.2_Nonsense_Mutation_p.E69*|TMEM141_ENST00000465017.1_3'UTR	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	94						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		GCTCTTCCTGGAGACCGGGCA	0.592											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41.0	39.0	40.0					9																	139686777		2195	4294	6489	SO:0001587	stop_gained	85014			BC007834	CCDS7007.1	9q34.3	2009-11-13			ENSG00000244187	ENSG00000244187			28211	protein-coding gene	gene with protein product							Standard	NM_032928		Approved	MGC14141	uc004cje.4	Q96I45	OTTHUMG00000020945	ENST00000290079.8:c.280G>T	9.37:g.139686777G>T	ENSP00000290079:p.Glu94*	1650	A6NIZ7|Q5T5R5	Nonsense_Mutation	SNP	NULL	p.E94*	ENST00000290079.8	37	c.280	CCDS7007.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075475	0.76415	.	.	ENSG00000244187	ENST00000290079	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5642	0.61807	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000290079:E94X	E	+	1	0	TMEM141	138806598	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.831000	0.55776	2.255000	0.74692	0.313000	0.20887	GAG	TMEM141	-	NULL		0.592	TMEM141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM141	HGNC	protein_coding	OTTHUMT00000055119.1	G	NM_032928		139686777	+1	no_errors	ENST00000290079	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TMEM145	284339	genome.wustl.edu	37	19	42820827	42820827	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:42820827C>T	ENST00000301204.3	+	10	782	c.741C>T	c.(739-741)ttC>ttT	p.F247F	TMEM145_ENST00000598766.1_Silent_p.F271F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	247					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGCTGCTCTTCTCCTCCAGCT	0.657																																																	0													80.0	73.0	76.0					19																	42820827		2203	4300	6503	SO:0001819	synonymous_variant	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.741C>T	19.37:g.42820827C>T				Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.F247	ENST00000301204.3	37	c.741	CCDS12603.1	19																																																																																			TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain		0.657	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	C	NM_173633		42820827	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAJC14	85406	genome.wustl.edu	37	12	56227056	56227056	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:56227056G>A	ENST00000357606.3	-	0	0				TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14						protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCGCTGCTGGGAGCCCTGCTC	0.632																																																	0																																										SO:0001631	upstream_gene_variant	440104			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3			12.37:g.56227056G>A	Exception_encountered		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	RNA	SNP	-	NULL	ENST00000357606.3	37	NULL	CCDS8894.1	12																																																																																			TMEM198B	-	-		0.632	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM198B	HGNC	protein_coding	OTTHUMT00000409095.1	G	NM_032364		56227056	+1	no_errors	ENST00000482378	ensembl	human	known	70_37	rna	SNP	1.000	A
TMEM203	94107	genome.wustl.edu	37	9	140099705	140099705	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:140099705G>A	ENST00000343666.5	-	1	385	c.162C>T	c.(160-162)ttC>ttT	p.F54F	NDOR1_ENST00000344894.5_5'Flank|NDOR1_ENST00000458322.2_5'Flank|TPRN_ENST00000541945.1_5'Flank|TMEM203_ENST00000537254.1_Silent_p.F54F|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	54						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGTCAGCGGCGAAGAAAGGCA	0.632																																																	0													49.0	51.0	50.0					9																	140099705		2198	4292	6490	SO:0001819	synonymous_variant	94107			BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"""HBeAg-binding protein 1"""					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.162C>T	9.37:g.140099705G>A			Q6NW08	Silent	SNP	pfam_TM_Fragile-X-F-assoc	p.F54	ENST00000343666.5	37	c.162	CCDS35185.1	9																																																																																			TMEM203	-	pfam_TM_Fragile-X-F-assoc		0.632	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM203	HGNC	protein_coding	OTTHUMT00000055325.2	G	NM_053045		140099705	-1	no_errors	ENST00000343666	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM248	55069	genome.wustl.edu	37	7	66406858	66406858	+	Silent	SNP	C	C	T	rs530968962		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:66406858C>T	ENST00000341567.4	+	2	261	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	2						integral component of membrane (GO:0016021)											GAATAATGTTCAGCATCAACC	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18428	0.0		0.0	False		,,,				2504	0.0																0													110.0	105.0	107.0					7																	66406858		2203	4300	6503	SO:0001819	synonymous_variant	55069				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.6C>T	7.37:g.66406858C>T			Q53H07|Q96FR2	Silent	SNP	NULL	p.F2	ENST00000341567.4	37	c.6	CCDS5536.1	7																																																																																			TMEM248	-	NULL		0.478	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM248	HGNC	protein_coding	OTTHUMT00000251745.2	C	NM_017994		66406858	+1	no_errors	ENST00000341567	ensembl	human	known	70_37	silent	SNP	0.052	T
TMEM209	84928	genome.wustl.edu	37	7	129821478	129821478	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:129821478C>G	ENST00000397622.2	-	9	1227	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	TMEM209_ENST00000473456.1_Missense_Mutation_p.E369Q|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.E368Q|TMEM209_ENST00000462753.1_Missense_Mutation_p.E368Q	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	369						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATCTGTAGCTCTGGACAACCC	0.398																																																	0													123.0	115.0	117.0					7																	129821478		1895	4134	6029	SO:0001583	missense	84928				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1105G>C	7.37:g.129821478C>G	ENSP00000380747:p.Glu369Gln		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.E369Q	ENST00000397622.2	37	c.1105	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431424	0.83776	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.67953	2.075	0.58432	D	0.999999	D;P	0.61080	0.989;0.946	P;P	0.58266	0.836;0.721	T	0.33497	-0.9866	10	0.22109	T	0.4	-18.3425	17.9185	0.88959	0.0:1.0:0.0:0.0	.	369;369	Q96SK2-3;Q96SK2	.;TM209_HUMAN	Q	369;368;369;368	ENSP00000380747:E369Q;ENSP00000419697:E368Q;ENSP00000417258:E369Q;ENSP00000338388:E368Q	ENSP00000338388:E368Q	E	-	1	0	TMEM209	129608714	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.427000	0.80284	2.476000	0.83614	0.557000	0.71058	GAG	TMEM209	-	pfam_Cytochrome_B561-rel		0.398	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	C	NM_032842		129821478	-1	no_errors	ENST00000397622	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM51	55092	genome.wustl.edu	37	1	15541866	15541866	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:15541866G>A	ENST00000428417.1	+	2	729	c.283G>A	c.(283-285)Gag>Aag	p.E95K	TMEM51_ENST00000376014.3_Missense_Mutation_p.E95K|TMEM51_ENST00000434578.2_Missense_Mutation_p.E95K|TMEM51_ENST00000376008.2_Missense_Mutation_p.E95K|TMEM51_ENST00000400796.3_Missense_Mutation_p.E95K	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCGGCAGGGCGAGGACCTGGC	0.652																																																	0													41.0	36.0	37.0					1																	15541866		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.283G>A	1.37:g.15541866G>A	ENSP00000394899:p.Glu95Lys		A8K819	Missense_Mutation	SNP	NULL	p.E95K	ENST00000428417.1	37	c.283	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845464	0.51164	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.43	5.43	0.79202	.	0.341805	0.30501	N	0.009486	T	0.29588	0.0738	L	0.60455	1.87	0.40199	D	0.977498	P;P	0.51791	0.948;0.907	B;B	0.40285	0.325;0.246	T	0.09975	-1.0650	10	0.41790	T	0.15	-3.8406	11.666	0.51374	0.0807:0.0:0.9193:0.0	.	95;95	Q9BSA0;Q9NW97	.;TMM51_HUMAN	K	95	ENSP00000394899:E95K;ENSP00000365182:E95K;ENSP00000412298:E95K;ENSP00000409665:E95K;ENSP00000383600:E95K;ENSP00000365176:E95K	ENSP00000303666:E95K	E	+	1	0	TMEM51	15414453	1.000000	0.71417	0.978000	0.43139	0.554000	0.35429	2.576000	0.46033	2.564000	0.86499	0.655000	0.94253	GAG	TMEM51	-	NULL		0.652	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	G	NM_018022		15541866	+1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.981	A
TMEM81	388730	genome.wustl.edu	37	1	205052803	205052803	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:205052803G>A	ENST00000367167.3	-	1	842	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	216						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTTGGGTGGTGAGGCTTGGAG	0.473																																																	0													123.0	113.0	116.0					1																	205052803		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.646C>T	1.37:g.205052803G>A	ENSP00000356135:p.His216Tyr		Q6UVZ4	Missense_Mutation	SNP	pfscan_Ig-like	p.H216Y	ENST00000367167.3	37	c.646	CCDS1450.1	1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734610	0.03111	.	.	ENSG00000174529	ENST00000367167	T	0.30182	1.54	5.79	0.642	0.17765	.	1.339410	0.04729	N	0.420702	T	0.18045	0.0433	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16305	-1.0407	10	0.08179	T	0.78	-18.348	2.1607	0.03824	0.2758:0.1199:0.4811:0.1232	.	216	Q6P7N7	TMM81_HUMAN	Y	216	ENSP00000356135:H216Y	ENSP00000356135:H216Y	H	-	1	0	TMEM81	203319426	0.004000	0.15560	0.032000	0.17829	0.143000	0.21401	-0.393000	0.07305	-0.120000	0.11809	-0.140000	0.14226	CAC	TMEM81	-	NULL		0.473	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM81	HGNC	protein_coding	OTTHUMT00000090076.1	G	NM_203376		205052803	-1	no_errors	ENST00000367167	ensembl	human	known	70_37	missense	SNP	0.000	A
TMPPE	643853	genome.wustl.edu	37	3	33134488	33134488	+	Missense_Mutation	SNP	C	C	G	rs371574640		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:33134488C>G	ENST00000342462.4	-	2	1390	c.1200G>C	c.(1198-1200)ttG>ttC	p.L400F	GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.L263F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	400						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CTGCTACGTTCAAGGGGAAGA	0.562																																																	0													112.0	105.0	107.0					3																	33134488		2203	4300	6503	SO:0001583	missense	643853			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1200G>C	3.37:g.33134488C>G	ENSP00000343398:p.Leu400Phe		B2RNG5|Q6ZRG1	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.L400F	ENST00000342462.4	37	c.1200	CCDS33732.1	3	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894144	0.17613	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	6.06	6.06	0.98353	.	0.118768	0.33382	N	0.004979	T	0.19248	0.0462	N	0.04090	-0.28	0.31234	N	0.695957	B	0.11235	0.004	B	0.12837	0.008	T	0.09662	-1.0664	9	0.02654	T	1	-3.7199	13.0005	0.58672	0.0:0.9244:0.0:0.0756	.	400	Q6ZT21	TMPPE_HUMAN	F	263;400	.	ENSP00000343398:L400F	L	-	3	2	TMPPE	33109492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.089000	0.41672	2.871000	0.98454	0.655000	0.94253	TTG	TMPPE	-	NULL		0.562	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPPE	HGNC	protein_coding	OTTHUMT00000341566.1	C	NM_001039770		33134488	-1	no_errors	ENST00000342462	ensembl	human	known	70_37	missense	SNP	1.000	G
TMTC2	160335	genome.wustl.edu	37	12	83251179	83251179	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:83251179C>G	ENST00000321196.3	+	2	1181	c.474C>G	c.(472-474)caC>caG	p.H158Q	TMTC2_ENST00000549919.1_Missense_Mutation_p.H152Q|TMTC2_ENST00000548305.1_Missense_Mutation_p.H158Q	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	158					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACATTAAACACTGTTCTACAA	0.562																																																	0													103.0	82.0	89.0					12																	83251179		2203	4300	6503	SO:0001583	missense	160335			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.474C>G	12.37:g.83251179C>G	ENSP00000322300:p.His158Gln		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H158Q	ENST00000321196.3	37	c.474	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984556	0.53934	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.60920	0.8;0.15;0.69	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.79475	2.455	0.80722	D	1	B;B	0.30146	0.195;0.27	B;B	0.40444	0.329;0.089	T	0.61108	-0.7129	10	0.30078	T	0.28	-22.4175	11.0126	0.47671	0.0:0.8519:0.0:0.1481	.	158;158	Q8N394;F8VSH2	TMTC2_HUMAN;.	Q	158;158;152	ENSP00000322300:H158Q;ENSP00000448292:H158Q;ENSP00000447609:H152Q	ENSP00000322300:H158Q	H	+	3	2	TMTC2	81775310	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.609000	0.24238	1.499000	0.48617	0.650000	0.86243	CAC	TMTC2	-	NULL		0.562	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	C	NM_152588		83251179	+1	no_errors	ENST00000321196	ensembl	human	known	70_37	missense	SNP	1.000	G
TNFAIP3	7128	genome.wustl.edu	37	6	138196079	138196079	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:138196079G>A	ENST00000237289.4	+	3	459	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	131	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCACGCTCAAGGAAACAGACA	0.502			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	26	Whole gene deletion(25)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(26)											124.0	116.0	118.0					6																	138196079		2203	4300	6503	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.393G>A	6.37:g.138196079G>A			B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K131	ENST00000237289.4	37	c.393	CCDS5187.1	6																																																																																			TNFAIP3	-	pfam_OTU,pfscan_OTU		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	G			138196079	+1	no_errors	ENST00000237289	ensembl	human	known	70_37	silent	SNP	1.000	A
TNFRSF13B	23495	genome.wustl.edu	37	17	16843713	16843713	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16843713G>A	ENST00000261652.2	-	4	570	c.558C>T	c.(556-558)ctC>ctT	p.L186L	TNFRSF13B_ENST00000583789.1_Silent_p.L140L|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Silent_p.L140L|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	186					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCCTCTTCTTGAGGAAGCAGG	0.642									IgA Deficiency, Selective																																								0													71.0	71.0	71.0					17																	16843713		2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.558C>T	17.37:g.16843713G>A			B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.L186	ENST00000261652.2	37	c.558	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.642	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	G			16843713	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	1.000	A
TNFRSF1B	7133	genome.wustl.edu	37	1	12266884	12266884	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:12266884C>A	ENST00000376259.3	+	10	1282	c.1193C>A	c.(1192-1194)tCc>tAc	p.S398Y	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	398					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TCACAGTGCTCCTCCCAAGCC	0.582																																																	0													103.0	88.0	93.0					1																	12266884		2203	4300	6503	SO:0001583	missense	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1193C>A	1.37:g.12266884C>A	ENSP00000365435:p.Ser398Tyr		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.S398Y	ENST00000376259.3	37	c.1193	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336618	0.60963	.	.	ENSG00000028137	ENST00000376259	D	0.89196	-2.48	5.04	5.04	0.67666	.	1.807900	0.02443	N	0.084804	D	0.90926	0.7148	L	0.44542	1.39	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.80725	-0.1254	10	0.87932	D	0	-1.6508	14.2336	0.65911	0.0:1.0:0.0:0.0	.	398	P20333	TNR1B_HUMAN	Y	398	ENSP00000365435:S398Y	ENSP00000365435:S398Y	S	+	2	0	TNFRSF1B	12189471	0.122000	0.22280	0.923000	0.36655	0.485000	0.33311	3.584000	0.53936	2.497000	0.84241	0.561000	0.74099	TCC	TNFRSF1B	-	NULL		0.582	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	C	NM_001066		12266884	+1	no_errors	ENST00000376259	ensembl	human	known	70_37	missense	SNP	0.947	A
TNPO1	3842	genome.wustl.edu	37	5	72173148	72173148	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:72173148G>C	ENST00000337273.5	+	9	1321	c.895G>C	c.(895-897)Gat>Cat	p.D299H	TNPO1_ENST00000454282.1_Missense_Mutation_p.D249H|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000506351.2_Missense_Mutation_p.D291H|TNPO1_ENST00000523768.1_Missense_Mutation_p.D249H|MIR4804_ENST00000581683.1_RNA	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	299					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AATATGCAAAGATGTACTCGT	0.348																																																	0													116.0	113.0	114.0					5																	72173148		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.895G>C	5.37:g.72173148G>C	ENSP00000336712:p.Asp299His		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D299H	ENST00000337273.5	37	c.895	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668408	0.67814	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.043790	0.85682	D	0.000000	T	0.59662	0.2210	L	0.44542	1.39	0.80722	D	1	B;B	0.14012	0.009;0.001	B;B	0.17979	0.02;0.004	T	0.56547	-0.7961	10	0.72032	D	0.01	-19.9544	19.7884	0.96447	0.0:0.0:1.0:0.0	.	249;299	Q92973-3;Q92973	.;TNPO1_HUMAN	H	299;249;249;291	ENSP00000336712:D299H;ENSP00000398524:D249H;ENSP00000428899:D249H;ENSP00000425118:D291H	ENSP00000336712:D299H	D	+	1	0	TNPO1	72208904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.350000	0.97070	2.758000	0.94735	0.650000	0.86243	GAT	TNPO1	-	superfamily_ARM-type_fold		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	G	NM_002270		72173148	+1	no_errors	ENST00000337273	ensembl	human	known	70_37	missense	SNP	1.000	C
TNPO1	3842	genome.wustl.edu	37	5	72204697	72204697	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:72204697G>A	ENST00000337273.5	+	0	3320				TNPO1_ENST00000454282.1_3'UTR|TNPO1_ENST00000506351.2_3'UTR	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCGATGTTGGGAAACGTTTTA	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.*197G>A	5.37:g.72204697G>A			B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.G386E	ENST00000337273.5	37	c.1157	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	7.944	0.743368	0.15642	.	.	ENSG00000083312	ENST00000519220	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.49695	0.1572	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38478	-0.9659	5	0.02654	T	1	.	20.3241	0.98686	0.0:0.0:1.0:0.0	.	.	.	.	E	386	.	ENSP00000428507:G386E	G	+	2	0	TNPO1	72240453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.932000	0.63476	2.798000	0.96311	0.557000	0.71058	GGA	TNPO1	-	NULL		0.468	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	G	NM_002270		72204697	+1	no_errors	ENST00000519220	ensembl	human	novel	70_37	missense	SNP	1.000	A
TOP3B	8940	genome.wustl.edu	37	22	22314109	22314109	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:22314109C>G	ENST00000398793.2	-	15	2089		c.e15-1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCTCTGCATCTGCAAGTGGG	0.657																																																	0													91.0	78.0	83.0					22																	22314109		2203	4300	6503	SO:0001630	splice_region_variant	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1655-1G>C	22.37:g.22314109C>G			A0M8Q3|Q9BUP5	Splice_Site	SNP	-	e14-1	ENST00000398793.2	37	c.1655-1	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002571	0.74932	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9944	0.97379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20644109	1.000000	0.71417	0.996000	0.52242	0.579000	0.36224	7.288000	0.78691	2.733000	0.93635	0.563000	0.77884	.	TOP3B	-	-		0.657	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	C	NM_003935	Intron	22314109	-1	no_errors	ENST00000357179	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TOPAZ1	375337	genome.wustl.edu	37	3	44283784	44283784	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:44283784G>A	ENST00000309765.4	+	1	407	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	80						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										GCCGCAAGGCGTCAGGTGGAG	0.632																																																	0													38.0	42.0	41.0					3																	44283784		692	1591	2283	SO:0001583	missense	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.239G>A	3.37:g.44283784G>A	ENSP00000310303:p.Arg80His			Missense_Mutation	SNP	NULL	p.R80H	ENST00000309765.4	37	c.239	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797657	0.31777	.	.	ENSG00000173769	ENST00000309765	T	0.12569	2.67	3.72	-3.38	0.04883	.	1.862560	0.03008	N	0.149048	T	0.06554	0.0168	L	0.27053	0.805	0.09310	N	1	D	0.52996	0.957	B	0.36719	0.231	T	0.28522	-1.0041	10	0.23302	T	0.38	12.5665	0.8391	0.01146	0.3106:0.2995:0.238:0.1519	.	80	Q8N9V7	CC077_HUMAN	H	80	ENSP00000310303:R80H	ENSP00000310303:R80H	R	+	2	0	C3orf77	44258788	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.100000	0.10990	-0.777000	0.04572	-0.229000	0.12294	CGT	TOPAZ1	-	NULL		0.632	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	G	NM_001145030		44283784	+1	no_errors	ENST00000309765	ensembl	human	known	70_37	missense	SNP	0.000	A
TOX2	84969	genome.wustl.edu	37	20	42635383	42635383	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:42635383C>T	ENST00000358131.5	+	3	597	c.389C>T	c.(388-390)tCc>tTc	p.S130F	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000372999.1_Missense_Mutation_p.S79F|TOX2_ENST00000341197.4_Missense_Mutation_p.S121F|TOX2_ENST00000423191.2_Missense_Mutation_p.S79F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	130					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATCATGGTGTCCAACATGCTA	0.637																																																	0													83.0	62.0	69.0					20																	42635383		2203	4300	6503	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.389C>T	20.37:g.42635383C>T	ENSP00000350849:p.Ser130Phe		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S121F	ENST00000358131.5	37	c.362	CCDS42875.1	20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894848	0.91962	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.56199	1.76	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.996;0.998	D;D;D;D	0.83275	0.996;0.974;0.928;0.991	T	0.63332	-0.6661	10	0.72032	D	0.01	.	17.8513	0.88747	0.0:1.0:0.0:0.0	.	121;79;130;79	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	F	121;79;79;79;130	ENSP00000344724:S121F;ENSP00000396584:S79F;ENSP00000390278:S79F;ENSP00000362090:S79F;ENSP00000350849:S130F	ENSP00000344724:S121F	S	+	2	0	TOX2	42068797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.555000	0.86185	0.655000	0.94253	TCC	TOX2	-	NULL		0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	C			42635383	+1	no_errors	ENST00000341197	ensembl	human	known	70_37	missense	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)											58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E271K	ENST00000269305.4	37	c.811	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	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;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577127	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A	rs587780071		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:7578269G>A	ENST00000269305.4	-	6	769	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	TP53_ENST00000455263.2_Missense_Mutation_p.L194F|TP53_ENST00000413465.2_Missense_Mutation_p.L194F|TP53_ENST00000359597.4_Missense_Mutation_p.L194F|TP53_ENST00000445888.2_Missense_Mutation_p.L194F|TP53_ENST00000420246.2_Missense_Mutation_p.L194F|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194F(17)|p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACTCGGATAAGATGCTGAGGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Substitution - Missense(19)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Complex - frameshift(1)	breast(8)|biliary_tract(6)|skin(6)|stomach(5)|large_intestine(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|central_nervous_system(2)|oesophagus(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)											96.0	86.0	90.0					17																	7578269		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.580C>T	17.37:g.7578269G>A	ENSP00000269305:p.Leu194Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194F	ENST00000269305.4	37	c.580	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893556	0.52121	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.65975	2.015	0.80722	D	1	D;D;B;D;D;D;D	0.89917	0.974;1.0;0.411;1.0;1.0;1.0;1.0	P;D;B;D;D;D;D	0.97110	0.905;1.0;0.415;0.999;1.0;1.0;1.0	D	0.96926	0.9677	10	0.87932	D	0	-29.6709	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194F;ENSP00000352610:L194F;ENSP00000269305:L194F;ENSP00000398846:L194F;ENSP00000391127:L194F;ENSP00000391478:L194F;ENSP00000425104:L62F;ENSP00000423862:L101F	ENSP00000269305:L194F	L	-	1	0	TP53	7518994	1.000000	0.71417	0.295000	0.24960	0.028000	0.11728	7.965000	0.87945	1.422000	0.47177	0.655000	0.94253	CTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7578269	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.996	A
TP73	7161	genome.wustl.edu	37	1	3638720	3638720	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:3638720G>A	ENST00000378295.4	+	5	720	c.565G>A	c.(565-567)Gac>Aac	p.D189N	TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000604479.1_Missense_Mutation_p.D189N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	189	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GCACGTGACCGACGTCGTGAA	0.647																																																	0													74.0	67.0	70.0					1																	3638720		2201	4297	6498	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.565G>A	1.37:g.3638720G>A	ENSP00000367545:p.Asp189Asn		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.D189N	ENST00000378295.4	37	c.565	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259548	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.108958	0.64402	D	0.000010	D	0.98745	0.9578	L	0.58810	1.83	0.40527	D	0.980894	P;P;B;B;B;P	0.47034	0.654;0.889;0.424;0.424;0.168;0.479	B;B;B;B;B;B	0.31751	0.054;0.135;0.067;0.067;0.059;0.11	D	0.99087	1.0839	10	0.87932	D	0	-21.6062	13.7221	0.62735	0.0:0.0:1.0:0.0	.	140;140;140;140;189;189	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	N	189;189;189;189;140;140;140;118	ENSP00000367545:D189N;ENSP00000346423:D189N;ENSP00000350366:D189N;ENSP00000340740:D189N;ENSP00000367537:D140N;ENSP00000367534:D140N;ENSP00000367529:D140N;ENSP00000367539:D118N	ENSP00000340740:D189N	D	+	1	0	TP73	3628580	1.000000	0.71417	0.097000	0.21041	0.063000	0.16089	9.354000	0.97083	1.762000	0.52044	0.491000	0.48974	GAC	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3638720	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	0.998	A
TP53BP2	7159	genome.wustl.edu	37	1	223971928	223971928	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:223971928C>A	ENST00000343537.7	-	17	3543	c.3252G>T	c.(3250-3252)atG>atT	p.M1084I	TP53BP2_ENST00000391879.2_Missense_Mutation_p.M317I|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.M955I	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1078	Mediates interaction with APC2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTCCTTCTTTCATGGGCAGCT	0.438																																																	0													196.0	183.0	187.0					1																	223971928		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3252G>T	1.37:g.223971928C>A	ENSP00000341957:p.Met1084Ile		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.M1084I	ENST00000343537.7	37	c.3252	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552912	0.65425	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.46819	2.41;0.86;2.41	5.97	5.97	0.96955	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.231016	0.53938	D	0.000048	T	0.29061	0.0722	N	0.01134	-0.995	0.48901	D	0.999722	B;B	0.21520	0.057;0.057	B;B	0.32289	0.093;0.143	T	0.40664	-0.9551	10	0.66056	D	0.02	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1084;1078	B4DG66;Q13625	.;ASPP2_HUMAN	I	955;1084;317	ENSP00000375750:M955I;ENSP00000341957:M1084I;ENSP00000375751:M317I	ENSP00000341957:M1084I	M	-	3	0	TP53BP2	222038551	1.000000	0.71417	0.615000	0.29064	0.996000	0.88848	4.752000	0.62176	2.833000	0.97629	0.585000	0.79938	ATG	TP53BP2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3		0.438	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	C	NM_001031685, NM_005426		223971928	-1	no_errors	ENST00000343537	ensembl	human	known	70_37	missense	SNP	1.000	A
TPI1	7167	genome.wustl.edu	37	12	6976718	6976718	+	Silent	SNP	C	C	T	rs375712848		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:6976718C>T	ENST00000229270.4	+	1	436	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	33					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCAGCGCCTCGGCTCCAGCG	0.642																																																	0								C	,	1,4387		0,1,2193	12.0	16.0	14.0		,99	-0.5	0.0	12		14	0,8590		0,0,4295	no	utr-5,coding-synonymous	TPI1	NM_000365.5,NM_001159287.1	,	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	,	,33/287	6976718	1,12977	2194	4295	6489	SO:0001819	synonymous_variant	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.99C>T	12.37:g.6976718C>T			B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase	p.L33	ENST00000229270.4	37	c.99	CCDS53740.1	12																																																																																			TPI1	-	NULL		0.642	TPI1-001	KNOWN	basic|CCDS	protein_coding	TPI1	HGNC	protein_coding	OTTHUMT00000258252.1	C	NM_000365		6976718	+1	no_errors	ENST00000229270	ensembl	human	known	70_37	silent	SNP	0.000	T
TPM2	7169	genome.wustl.edu	37	9	35684850	35684850	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:35684850G>A	ENST00000360958.2	-	6	668				TPM2_ENST00000378292.3_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACAGCGAAGCCAGACA	0.582																																																	0													20.0	20.0	20.0					9																	35684850		2200	4290	6490	SO:0001627	intron_variant	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.564-46C>T	9.37:g.35684850G>A			A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	RNA	SNP	-	NULL	ENST00000360958.2	37	NULL	CCDS6587.1	9																																																																																			TPM2	-	-		0.582	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	G	NM_003289		35684850	-1	no_errors	ENST00000471212	ensembl	human	known	70_37	rna	SNP	0.439	A
CACNA1H	8912	genome.wustl.edu	37	16	1273501	1273501	+	IGR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:1273501C>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R56H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTCCGCAGGCGGAGGCTGGC	0.726																																																	0													6.0	7.0	7.0					16																	1273501		2021	4060	6081	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1273501C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R56H	ENST00000348261.5	37	c.167	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	c	13.61	2.289128	0.40494	.	.	ENSG00000116176	ENST00000234798	D	0.88664	-2.41	2.76	1.78	0.24846	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89368	0.6695	L	0.43646	1.37	0.25302	N	0.989276	D	0.89917	1.0	D	0.64321	0.924	T	0.78563	-0.2156	9	0.42905	T	0.14	.	6.9077	0.24319	0.0:0.8467:0.0:0.1533	.	56	Q9NRR2	TRYG1_HUMAN	H	56	ENSP00000234798:R56H	ENSP00000234798:R56H	R	-	2	0	TPSG1	1213502	0.000000	0.05858	0.206000	0.23566	0.676000	0.39594	-0.184000	0.09698	1.471000	0.48121	0.486000	0.48141	CGC	TPSG1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.726	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1273501	-1	no_errors	ENST00000234798	ensembl	human	known	70_37	missense	SNP	0.534	T
REV3L	5980	genome.wustl.edu	37	6	111805174	111805174	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:111805174G>A	ENST00000358835.3	-	0	0				REV3L_ENST00000368805.1_5'Flank|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000532226.1_RNA|TRAF3IP2-AS1_ENST00000420651.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000525151.1_RNA|REV3L_ENST00000368802.3_5'Flank|REV3L_ENST00000435970.1_5'Flank|TRAF3IP2-AS1_ENST00000440001.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCATTTAATGAGATTTATTC	0.607								DNA polymerases (catalytic subunits)																																									0																																										SO:0001631	upstream_gene_variant	643749			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318		6.37:g.111805174G>A	Exception_encountered		O43214|Q5TC33	RNA	SNP	-	NULL	ENST00000358835.3	37	NULL	CCDS5091.2	6																																																																																			TRAF3IP2-AS1	-	-		0.607	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3IP2-AS1	HGNC	protein_coding	OTTHUMT00000043695.1	G	NM_002912		111805174	+1	no_errors	ENST00000440001	ensembl	human	known	70_37	rna	SNP	0.048	A
TRAM1	23471	genome.wustl.edu	37	8	71520420	71520420	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:71520420C>G	ENST00000262213.2	-	1	184	c.15G>C	c.(13-15)aaG>aaC	p.K5N	TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	5					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGGTGCTTTTCTTGCGAATCG	0.667																																					Ovarian(85;984 1334 5116 12432 40638)												0													67.0	70.0	69.0					8																	71520420		2203	4300	6503	SO:0001583	missense	23471			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.15G>C	8.37:g.71520420C>G	ENSP00000262213:p.Lys5Asn		B4E0K2	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.K5N	ENST00000262213.2	37	c.15	CCDS6207.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000067167	ENST00000262213	T	0.38560	1.13	5.09	5.09	0.68999	.	0.104368	0.64402	D	0.000006	T	0.63931	0.2553	M	0.79475	2.455	0.80722	D	1	D	0.53151	0.958	P	0.59357	0.856	T	0.69499	-0.5129	10	0.87932	D	0	-3.571	18.0722	0.89413	0.0:1.0:0.0:0.0	.	5	Q15629	TRAM1_HUMAN	N	5	ENSP00000262213:K5N	ENSP00000262213:K5N	K	-	3	2	TRAM1	71682974	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.610000	0.46325	2.355000	0.79922	0.563000	0.77884	AAG	TRAM1	-	pirsf_Translocation_assoc_membrane		0.667	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	C	NM_014294		71520420	-1	no_errors	ENST00000262213	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM16L	147166	genome.wustl.edu	37	17	18638431	18638431	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:18638431G>A	ENST00000449552.2	+	7	2189	c.705G>A	c.(703-705)caG>caA	p.Q235Q	TRIM16L_ENST00000395671.4_Silent_p.Q235Q|TRIM16L_ENST00000395902.3_Silent_p.Q289Q|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395672.2_Silent_p.Q235Q|TRIM16L_ENST00000571708.1_Silent_p.Q235Q|TRIM16L_ENST00000572555.1_Silent_p.Q235Q			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCATCGACCAGAAAGGGGAGG	0.552																																																	0													90.0	84.0	86.0					17																	18638431		2203	4300	6503	SO:0001819	synonymous_variant	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.705G>A	17.37:g.18638431G>A			A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.Q289	ENST00000449552.2	37	c.867	CCDS32588.1	17																																																																																			TRIM16L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.552	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	G	NM_001037330		18638431	+1	no_errors	ENST00000395902	ensembl	human	known	70_37	silent	SNP	0.999	A
TRIM28	10155	genome.wustl.edu	37	19	59061167	59061167	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:59061167C>T	ENST00000253024.5	+	14	2335	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	TRIM28_ENST00000341753.6_Silent_p.L600L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	682					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCAGCCTCAGCCTGGATG	0.602																																																	0													94.0	87.0	89.0					19																	59061167		2203	4300	6503	SO:0001819	synonymous_variant	10155				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2046C>T	19.37:g.59061167C>T			O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L682	ENST00000253024.5	37	c.2046	CCDS12985.1	19																																																																																			TRIM28	-	NULL		0.602	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	C	NM_005762		59061167	+1	no_errors	ENST00000253024	ensembl	human	known	70_37	silent	SNP	0.418	T
TRIM42	287015	genome.wustl.edu	37	3	140406965	140406965	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:140406965G>A	ENST00000286349.3	+	3	1632	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	481	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E481*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTTTGTTGAGCTTTCCAG	0.597																																																	1	Substitution - Nonsense(1)	skin(1)											78.0	67.0	71.0					3																	140406965		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1441G>A	3.37:g.140406965G>A	ENSP00000286349:p.Glu481Lys		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E481K	ENST00000286349.3	37	c.1441	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113983	0.56398	.	.	ENSG00000155890	ENST00000286349	T	0.38560	1.13	5.63	4.75	0.60458	COS domain (1);	0.089409	0.47852	D	0.000202	T	0.24736	0.0600	N	0.17082	0.46	0.34351	D	0.689842	B	0.24043	0.096	B	0.18263	0.021	T	0.22836	-1.0205	10	0.30078	T	0.28	-28.7203	9.7948	0.40728	0.0915:0.0:0.9085:0.0	.	481	Q8IWZ5	TRI42_HUMAN	K	481	ENSP00000286349:E481K	ENSP00000286349:E481K	E	+	1	0	TRIM42	141889655	0.999000	0.42202	0.968000	0.41197	0.494000	0.33585	3.341000	0.52151	2.826000	0.97356	0.655000	0.94253	GAG	TRIM42	-	NULL		0.597	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140406965	+1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	0.950	A
TRIM56	81844	genome.wustl.edu	37	7	100732201	100732201	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100732201C>G	ENST00000306085.6	+	3	1905	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	536					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTTCTCCCTCAACGGCGACT	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)												0													52.0	59.0	57.0					7																	100732201		2113	4234	6347	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1608C>G	7.37:g.100732201C>G			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L536	ENST00000306085.6	37	c.1608	CCDS43625.1	7																																																																																			TRIM56	-	NULL		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	C	NM_030961		100732201	+1	no_errors	ENST00000306085	ensembl	human	known	70_37	silent	SNP	0.999	G
TRIM56	81844	genome.wustl.edu	37	7	100732911	100732911	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100732911G>A	ENST00000306085.6	+	0	2615				TRIM56_ENST00000487252.1_3'UTR	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCAGGAAGGAGGCAGAGCT	0.577																																					Ovarian(89;1092 1379 22756 38989 39611)												0													14.0	14.0	14.0					7																	100732911		2056	4171	6227	SO:0001624	3_prime_UTR_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.*50G>A	7.37:g.100732911G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	RNA	SNP	-	NULL	ENST00000306085.6	37	NULL	CCDS43625.1	7																																																																																			TRIM56	-	-		0.577	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100732911	+1	no_errors	ENST00000487252	ensembl	human	putative	70_37	rna	SNP	0.003	A
TRIM9	114088	genome.wustl.edu	37	14	51467440	51467440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:51467440G>T	ENST00000298355.3	-	6	2546	c.1425C>A	c.(1423-1425)taC>taA	p.Y475*	TRIM9_ENST00000338969.5_Nonsense_Mutation_p.Y471*|TRIM9_ENST00000360392.4_Nonsense_Mutation_p.Y475*	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	475	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GCTCCAGAATGTATCCATCGG	0.542																																																	0													93.0	83.0	86.0					14																	51467440		2203	4300	6503	SO:0001587	stop_gained	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1425C>A	14.37:g.51467440G>T	ENSP00000298355:p.Tyr475*		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y471*	ENST00000298355.3	37	c.1413	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	48	13.940363	0.99771	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	.	.	.	6.05	2.19	0.27852	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0296	0.47765	0.2376:0.0:0.7624:0.0	.	.	.	.	X	475;471;475	.	ENSP00000298355:Y475X	Y	-	3	2	TRIM9	50537190	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	3.457000	0.53007	0.452000	0.26830	0.650000	0.86243	TAC	TRIM9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51467440	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TRMT10A	93587	genome.wustl.edu	37	4	100472125	100472125	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:100472125G>A	ENST00000273962.3	-	7	980	c.668C>T	c.(667-669)tCa>tTa	p.S223L	TRMT10A_ENST00000394876.2_Missense_Mutation_p.S223L|TRMT10A_ENST00000394877.3_Missense_Mutation_p.S223L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	223	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCCATAATCTGACGCTTGTTT	0.318																																																	0													93.0	86.0	88.0					4																	100472125		2203	4300	6503	SO:0001583	missense	93587			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.668C>T	4.37:g.100472125G>A	ENSP00000273962:p.Ser223Leu		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.S223L	ENST00000273962.3	37	c.668	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254493	0.39896	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.19938	2.11;2.11;2.11	5.86	5.01	0.66863	.	0.461951	0.24085	N	0.041690	T	0.10035	0.0246	N	0.12637	0.245	0.24656	N	0.993494	B	0.09022	0.002	B	0.15052	0.012	T	0.09907	-1.0653	10	0.36615	T	0.2	-9.1086	3.7094	0.08414	0.1975:0.0:0.5965:0.206	.	223	Q8TBZ6	RG9D2_HUMAN	L	223	ENSP00000378343:S223L;ENSP00000273962:S223L;ENSP00000378342:S223L	ENSP00000273962:S223L	S	-	2	0	RG9MTD2	100691148	0.946000	0.32159	1.000000	0.80357	0.997000	0.91878	3.225000	0.51246	2.771000	0.95319	0.650000	0.86243	TCA	TRMT10A	-	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10		0.318	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	G	NM_152292		100472125	-1	no_errors	ENST00000273962	ensembl	human	known	70_37	missense	SNP	0.991	A
TROAP	10024	genome.wustl.edu	37	12	49721039	49721039	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:49721039G>A	ENST00000257909.3	+	8	893	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	TROAP_ENST00000551245.1_Missense_Mutation_p.E273K|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	273					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCACTCAGATGAAGGAGGTGT	0.488																																																	0													136.0	119.0	125.0					12																	49721039		2203	4300	6503	SO:0001583	missense	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.817G>A	12.37:g.49721039G>A	ENSP00000257909:p.Glu273Lys		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.E273K	ENST00000257909.3	37	c.817	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099806	0.76983	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	4.13	0.48395	.	0.335796	0.25372	N	0.031144	T	0.46927	0.1418	L	0.42245	1.32	0.80722	D	1	B;B	0.30851	0.297;0.129	B;B	0.27262	0.078;0.046	T	0.48328	-0.9045	9	0.54805	T	0.06	-0.9897	9.892	0.41296	0.106:0.0:0.894:0.0	.	273;273	F8W130;Q12815	.;TROAP_HUMAN	K	273;156;273;267	.	ENSP00000257909:E273K	E	+	1	0	TROAP	48007306	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.862000	0.39448	1.316000	0.45131	0.655000	0.94253	GAA	TROAP	-	NULL		0.488	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49721039	+1	no_errors	ENST00000257909	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPC4	7223	genome.wustl.edu	37	13	38211095	38211095	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:38211095T>A	ENST00000379705.3	-	11	3736	c.2879A>T	c.(2878-2880)gAt>gTt	p.D960V	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.D787V|TRPC4_ENST00000379681.3_Missense_Mutation_p.D965V|TRPC4_ENST00000358477.2_Missense_Mutation_p.D876V|TRPC4_ENST00000338947.5_Missense_Mutation_p.D787V|TRPC4_ENST00000447043.1_Missense_Mutation_p.D819V|TRPC4_ENST00000355779.2_Missense_Mutation_p.D819V|TRPC4_ENST00000379673.2_Missense_Mutation_p.D811V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	960	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGGTTTAGATCATAGTCTAT	0.438																																																	0													150.0	135.0	140.0					13																	38211095		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2879A>T	13.37:g.38211095T>A	ENSP00000369027:p.Asp960Val		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.D965V	ENST00000379705.3	37	c.2894	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	T	8.978	0.974519	0.18736	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.74842	-0.39;-0.39;-0.2;-0.2;-0.38;-0.54;-0.88;-0.38	5.67	5.67	0.87782	.	1.063820	0.07266	N	0.868307	T	0.78742	0.4331	N	0.19112	0.55	0.58432	D	0.999999	B;P;D;B;P;B	0.56968	0.039;0.665;0.978;0.069;0.867;0.041	B;B;D;B;P;B	0.71184	0.116;0.38;0.972;0.037;0.58;0.017	T	0.69712	-0.5071	10	0.87932	D	0	-24.9903	11.1994	0.48733	0.0:0.0:0.1531:0.8469	.	819;811;965;787;876;960	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	960;965;787;787;819;876;811;819	ENSP00000369027:D960V;ENSP00000369003:D965V;ENSP00000342580:D787V;ENSP00000369001:D787V;ENSP00000348025:D819V;ENSP00000351264:D876V;ENSP00000368995:D811V;ENSP00000414316:D819V	ENSP00000342580:D787V	D	-	2	0	TRPC4	37109095	0.987000	0.35691	0.586000	0.28679	0.005000	0.04900	2.523000	0.45580	2.174000	0.68829	0.533000	0.62120	GAT	TRPC4	-	NULL		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	T	NM_003306		38211095	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	missense	SNP	0.637	A
TRPC4	7223	genome.wustl.edu	37	13	38225483	38225483	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:38225483G>C	ENST00000379705.3	-	8	2855	c.1998C>G	c.(1996-1998)ctC>ctG	p.L666L	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Silent_p.L493L|TRPC4_ENST00000379681.3_Silent_p.L666L|TRPC4_ENST00000358477.2_Silent_p.L666L|TRPC4_ENST00000338947.5_Silent_p.L493L|TRPC4_ENST00000447043.1_Silent_p.L666L|TRPC4_ENST00000355779.2_Silent_p.L666L|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	666	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L666L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCAGGTACCAGAGAGACTTGG	0.423																																																	2	Substitution - coding silent(2)	lung(2)											133.0	130.0	131.0					13																	38225483		2203	4300	6503	SO:0001819	synonymous_variant	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1998C>G	13.37:g.38225483G>C			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.L666	ENST00000379705.3	37	c.1998	CCDS9365.1	13																																																																																			TRPC4	-	tigrfam_TRP_channel		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	G	NM_003306		38225483	-1	no_errors	ENST00000379681	ensembl	human	known	70_37	silent	SNP	0.273	C
TRPC6	7225	genome.wustl.edu	37	11	101353715	101353715	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:101353715G>A	ENST00000344327.3	-	5	1899	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	TRPC6_ENST00000348423.4_Missense_Mutation_p.S376L|TRPC6_ENST00000360497.4_Missense_Mutation_p.S437L|TRPC6_ENST00000532133.1_Missense_Mutation_p.S492L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	492					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCCATCCATGAGAAGCAGGA	0.403																																					Colon(166;1315 1927 11094 12848 34731)												0													182.0	156.0	165.0					11																	101353715		2203	4299	6502	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1475C>T	11.37:g.101353715G>A	ENSP00000340913:p.Ser492Leu		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S492L	ENST00000344327.3	37	c.1475	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316625	0.60524	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;D;T;T	0.98345	-1.24;-4.88;-1.1;-1.37	5.78	4.85	0.62838	.	0.184373	0.46442	D	0.000292	D	0.97451	0.9166	L	0.58101	1.795	0.50313	D	0.999869	P;P;P	0.45348	0.675;0.856;0.547	B;P;B	0.46026	0.228;0.501;0.114	D	0.97069	0.9776	10	0.51188	T	0.08	-11.6659	16.6264	0.84971	0.0:0.1301:0.8699:0.0	.	437;376;492	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	L	492;492;376;437	ENSP00000340913:S492L;ENSP00000435574:S492L;ENSP00000343672:S376L;ENSP00000353687:S437L	ENSP00000340913:S492L	S	-	2	0	TRPC6	100858925	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.895000	0.87343	1.387000	0.46486	0.591000	0.81541	TCA	TRPC6	-	pfam_PKD1_2_channel,tigrfam_TRP_channel		0.403	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	G	NM_004621		101353715	-1	no_errors	ENST00000344327	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31341613	31341613	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:31341613G>A	ENST00000256552.6	-	13	1684	c.1537C>T	c.(1537-1539)Ctg>Ttg	p.L513L	TRPM1_ENST00000542188.1_Silent_p.L530L|TRPM1_ENST00000397795.2_Silent_p.L491L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAATGGTCAGAAAGTGTTGC	0.478																																																	0													154.0	146.0	148.0					15																	31341613		1984	4158	6142	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1537C>T	15.37:g.31341613G>A				Silent	SNP	pfam_Ion_trans_dom	p.L530	ENST00000256552.6	37	c.1588	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31341613	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	1.000	A
TSC1	7248	genome.wustl.edu	37	9	135797308	135797308	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:135797308G>C	ENST00000298552.3	-	7	782	c.561C>G	c.(559-561)ctC>ctG	p.L187L	TSC1_ENST00000403810.1_Silent_p.L187L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.L187L|TSC1_ENST00000545250.1_Silent_p.L136L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	187					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)|p.L187L(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGCGATGAAAGAGTGCGTACA	0.463			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	2	Unknown(1)|Substitution - coding silent(1)	breast(1)|bone(1)											138.0	131.0	133.0					9																	135797308		2203	4300	6503	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.561C>G	9.37:g.135797308G>C			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L187	ENST00000298552.3	37	c.561	CCDS6956.1	9																																																																																			TSC1	-	pfam_Hamartin		0.463	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	G			135797308	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	silent	SNP	0.998	C
TSGA10	80705	genome.wustl.edu	37	2	99721839	99721839	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:99721839C>G	ENST00000393483.3	-	9	1286	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	TSGA10_ENST00000410001.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E148Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E148Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E148Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	148					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACTGTACACTCCAGCTCCTCT	0.333																																																	0													55.0	58.0	57.0					2																	99721839		2202	4300	6502	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.442G>C	2.37:g.99721839C>G	ENSP00000377123:p.Glu148Gln		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.E148Q	ENST00000393483.3	37	c.442	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	11.12	1.543868	0.27563	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.98	4.98	0.66077	.	0.072834	0.53938	D	0.000044	T	0.26593	0.0650	N	0.12502	0.225	0.33284	D	0.562671	B;B	0.32573	0.376;0.202	B;B	0.28784	0.094;0.094	T	0.33343	-0.9872	10	0.15952	T	0.53	-14.2758	12.866	0.57939	0.0:0.8361:0.1639:0.0	.	148;148	B7Z925;Q9BZW7	.;TSG10_HUMAN	Q	148	ENSP00000377123:E148Q;ENSP00000386956:E148Q;ENSP00000347161:E148Q;ENSP00000444419:E148Q;ENSP00000386508:E148Q;ENSP00000377122:E148Q;ENSP00000445623:E148Q	ENSP00000347161:E148Q	E	-	1	0	TSGA10	99088271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.457000	0.45005	2.593000	0.87608	0.650000	0.86243	GAG	TSGA10	-	NULL		0.333	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99721839	-1	no_errors	ENST00000355053	ensembl	human	known	70_37	missense	SNP	1.000	G
TSPAN14	81619	genome.wustl.edu	37	10	82277895	82277895	+	3'UTR	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:82277895G>T	ENST00000429989.3	+	0	1199				TSPAN14_ENST00000341863.6_3'UTR|TSPAN14_ENST00000372164.3_3'UTR|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000481124.1_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGCTGGTGCTGAAGACCAAGG	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*163G>T	10.37:g.82277895G>T			A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	RNA	SNP	-	NULL	ENST00000429989.3	37	NULL	CCDS7369.1	10																																																																																			TSPAN14	-	-		0.562	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2	G	NM_030927		82277895	+1	no_errors	ENST00000265450	ensembl	human	known	70_37	rna	SNP	0.871	T
TSR1	55720	genome.wustl.edu	37	17	2237775	2237775	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:2237775C>T	ENST00000301364.5	-	5	2051	c.972G>A	c.(970-972)atG>atA	p.M324I	TSR1_ENST00000576112.2_Missense_Mutation_p.M308I	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	324					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCCATTGCCATGTCTGGGT	0.408																																																	0													112.0	118.0	116.0					17																	2237775		2203	4300	6503	SO:0001583	missense	55720			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.972G>A	17.37:g.2237775C>T	ENSP00000301364:p.Met324Ile		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.M324I	ENST00000301364.5	37	c.972	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257399	0.22965	.	.	ENSG00000167721	ENST00000301364	T	0.11930	2.73	5.4	3.41	0.39046	.	0.445066	0.27749	N	0.018013	T	0.12135	0.0295	L	0.44542	1.39	0.41522	D	0.988401	B	0.12013	0.005	B	0.12837	0.008	T	0.07158	-1.0787	10	0.33940	T	0.23	-4.2555	10.6134	0.45436	0.0:0.8445:0.0:0.1555	.	324	Q2NL82	TSR1_HUMAN	I	324	ENSP00000301364:M324I	ENSP00000301364:M324I	M	-	3	0	TSR1	2184525	0.223000	0.23663	0.014000	0.15608	0.511000	0.34104	1.401000	0.34589	1.275000	0.44379	0.655000	0.94253	ATG	TSR1	-	NULL		0.408	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	C	NM_018128		2237775	-1	no_errors	ENST00000301364	ensembl	human	known	70_37	missense	SNP	0.793	T
TSR2	90121	genome.wustl.edu	37	X	54470860	54470860	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:54470860G>A	ENST00000375151.4	+	5	474	c.453G>A	c.(451-453)acG>acA	p.T151T		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	151					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						TCACAGCTACGAATGATGGGG	0.522																																																	0													54.0	47.0	49.0					X																	54470860		2203	4299	6502	SO:0001819	synonymous_variant	90121			BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.453G>A	X.37:g.54470860G>A				Silent	SNP	pfam_Pre-rRNA_process_TSR2	p.T151	ENST00000375151.4	37	c.453	CCDS14358.1	X																																																																																			TSR2	-	NULL		0.522	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR2	HGNC	protein_coding	OTTHUMT00000056802.1	G	NM_058163		54470860	+1	no_errors	ENST00000375151	ensembl	human	known	70_37	silent	SNP	0.086	A
TTBK1	84630	genome.wustl.edu	37	6	43230657	43230657	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43230657G>C	ENST00000259750.4	+	13	1638	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.E468Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	519					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCTCTGTGGAGCAGGAGGC	0.642																																																	0													73.0	57.0	63.0					6																	43230657		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1555G>C	6.37:g.43230657G>C	ENSP00000259750:p.Glu519Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E519Q	ENST00000259750.4	37	c.1555	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036260	0.75617	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.55052	0.54	5.32	5.32	0.75619	.	0.055878	0.64402	D	0.000001	T	0.37100	0.0991	N	0.08118	0	0.48762	D	0.999704	D;P	0.54207	0.965;0.534	P;B	0.55871	0.786;0.107	T	0.45264	-0.9273	10	0.44086	T	0.13	.	15.9	0.79365	0.0:0.0:1.0:0.0	.	42;519	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	Q	468;519;468	ENSP00000259750:E519Q	ENSP00000259750:E519Q	E	+	1	0	TTBK1	43338635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.479000	0.97929	2.497000	0.84241	0.430000	0.28490	GAG	TTBK1	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43230657	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	C
TTC25	83538	genome.wustl.edu	37	17	40091994	40091994	+	RNA	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:40091994C>T	ENST00000591658.1	+	0	457							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCAACAACTCAGTGGGAAGT	0.502																																																	0													54.0	53.0	54.0					17																	40091994		2005	4196	6201			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091994C>T			Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	32	5.130683	0.94473	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.79	5.79	0.91817	.	0.114545	0.64402	D	0.000009	T	0.80391	0.4614	M	0.83603	2.65	0.38896	D	0.957218	P;D	0.71674	0.945;0.998	P;D	0.69142	0.778;0.962	T	0.82358	-0.0497	8	0.66056	D	0.02	-11.1499	16.5038	0.84263	0.0:0.8607:0.1393:0.0	.	130;130	C9JGW6;Q96NG3	.;TTC25_HUMAN	L	130	.	ENSP00000366763:S130L	S	+	2	0	AC091172.1	37345520	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.881000	0.69706	2.735000	0.93741	0.655000	0.94253	TCA	TTC25	-	-		0.502	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	C	NM_031421		40091994	+1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	1.000	T
TTC34	100287898	genome.wustl.edu	37	1	2704221	2704221	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:2704221G>A	ENST00000401095.3	-	2	219	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TTC34_ENST00000401094.6_Intron	NM_001242672.1	NP_001229601.1	A8MYJ7	TTC34_HUMAN	tetratricopeptide repeat domain 34	47																	CTCGTCCTCTGAATCCAGCTC	0.672																																																	0																																										SO:0001583	missense	100287898				CCDS55565.1	1p36.32	2013-01-11			ENSG00000215912	ENSG00000215912		"""Tetratricopeptide (TTC) repeat domain containing"""	34297	protein-coding gene	gene with protein product							Standard	NM_001242672		Approved		uc021oey.1	A8MYJ7	OTTHUMG00000000539	ENST00000401095.3:c.140C>T	1.37:g.2704221G>A	ENSP00000383873:p.Ser47Leu		A8MXL8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S47L	ENST00000401095.3	37	c.140	CCDS55565.1	1	.	.	.	.	.	.	.	.	.	.	G	5.450	0.268133	0.10349	.	.	ENSG00000215912	ENST00000401094;ENST00000401095	T	0.78924	-1.22	4.21	-1.37	0.09056	.	0.694941	0.13424	U	0.388881	T	0.62466	0.2430	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.53415	-0.8442	8	0.38643	T	0.18	.	6.6714	0.23070	0.2263:0.3753:0.3983:0.0	.	.	.	.	L	47	ENSP00000383873:S47L	ENSP00000387700:S47L	S	-	2	0	TTC34	2694081	0.144000	0.22641	0.000000	0.03702	0.001000	0.01503	2.815000	0.48018	-0.367000	0.08052	-0.300000	0.09419	TCA	TTC34	-	NULL		0.672	TTC34-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC34	HGNC	protein_coding		G	XM_002342015		2704221	-1	no_errors	ENST00000401095	ensembl	human	known	70_37	missense	SNP	0.000	A
TTC5	91875	genome.wustl.edu	37	14	20757805	20757805	+	Missense_Mutation	SNP	G	G	A	rs201731132		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:20757805G>A	ENST00000258821.3	-	10	1360	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TTC5_ENST00000556592.1_5'Flank	NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	435					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S435*(1)|p.S435W(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGTGGTCGCGATGCCACTGT	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19153	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)											90.0	67.0	75.0					14																	20757805		2203	4300	6503	SO:0001583	missense	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1304C>T	14.37:g.20757805G>A	ENSP00000258821:p.Ser435Leu		A8MQ18|Q96HF9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S435L	ENST00000258821.3	37	c.1304	CCDS9546.1	14	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.55	1.673190	0.29693	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	5.48	4.53	0.55603	.	0.127565	0.53938	D	0.000056	T	0.13457	0.0326	N	0.14661	0.345	0.34444	D	0.699904	B	0.33073	0.396	B	0.22753	0.041	T	0.15037	-1.0451	10	0.09084	T	0.74	.	10.7886	0.46419	0.0:0.0:0.7543:0.2457	.	435	Q8N0Z6	TTC5_HUMAN	L	435	ENSP00000258821:S435L	ENSP00000258821:S435L	S	-	2	0	TTC5	19827645	0.999000	0.42202	0.337000	0.25536	0.157000	0.22087	4.295000	0.59049	2.861000	0.98227	0.650000	0.86243	TCG	TTC5	-	NULL		0.567	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	G	NM_138376		20757805	-1	no_errors	ENST00000258821	ensembl	human	known	70_37	missense	SNP	0.738	A
TTC9B	148014	genome.wustl.edu	37	19	40723221	40723221	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:40723221G>C	ENST00000311308.6	-	2	500	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGTACCTTGAGACAGTACT	0.657																																																	0													98.0	71.0	80.0					19																	40723221		2203	4300	6503	SO:0001819	synonymous_variant	148014			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.483C>G	19.37:g.40723221G>C			A8K0I5|Q96NP9	Silent	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L161	ENST00000311308.6	37	c.483	CCDS12550.1	19																																																																																			TTC9B	-	pfscan_TPR-contain_dom		0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9B	HGNC	protein_coding	OTTHUMT00000462604.1	G	NM_152479		40723221	-1	no_errors	ENST00000311308	ensembl	human	known	70_37	silent	SNP	1.000	C
TTI1	9675	genome.wustl.edu	37	20	36640910	36640910	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr20:36640910C>G	ENST00000373448.2	-	3	1547	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.E437Q|TTI1_ENST00000449821.1_Missense_Mutation_p.E437Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	437					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACGTCTAGCTCTAGAACTTGG	0.483																																																	0													57.0	55.0	56.0					20																	36640910		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1309G>C	20.37:g.36640910C>G	ENSP00000362547:p.Glu437Gln		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E437Q	ENST00000373448.2	37	c.1309	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672290	0.67928	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.65916	-0.18;-0.18;-0.18	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.77103	2.36	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	T	0.74719	-0.3570	10	0.25751	T	0.34	-12.4309	18.5685	0.91126	0.0:1.0:0.0:0.0	.	437	O43156	TTI1_HUMAN	Q	437	ENSP00000362547:E437Q;ENSP00000362546:E437Q;ENSP00000407270:E437Q	ENSP00000362546:E437Q	E	-	1	0	TTI1	36074324	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	4.324000	0.59228	2.861000	0.98227	0.655000	0.94253	GAG	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.483	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36640910	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	1.000	G
TTLL10	254173	genome.wustl.edu	37	1	1109713	1109713	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:1109713C>T	ENST00000379290.1	+	2	80				TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000506177.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAGTACCTTCCTAGGGCCCC	0.567																																																	0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-94+12C>T	1.37:g.1109713C>T			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.567	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	C	NM_153254		1109713	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179399950	179399950	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179399950C>T	ENST00000591111.1	-	308	96693	c.96469G>A	c.(96469-96471)Gaa>Aaa	p.E32157K	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24925K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24858K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31230K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24733K|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33798K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32157					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCTGGTTTCATCTACCTCT	0.413																																																	0													137.0	130.0	132.0					2																	179399950		1877	4092	5969	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96469G>A	2.37:g.179399950C>T	ENSP00000465570:p.Glu32157Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E31230K	ENST00000591111.1	37	c.93688		2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252943	0.59212	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.07;0.05;0.04	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.59390	0.2190	N	0.14661	0.345	0.58432	D	0.999998	D;D;D;D	0.58268	0.982;0.982;0.982;0.982	P;P;P;P	0.51266	0.664;0.664;0.664;0.664	T	0.65768	-0.6088	9	0.87932	D	0	.	20.1075	0.97898	0.0:1.0:0.0:0.0	.	24733;24858;24925;32157	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31230;24733;24925;24858;24730	ENSP00000343764:E31230K;ENSP00000434586:E24733K;ENSP00000340554:E24925K;ENSP00000352154:E24858K	ENSP00000340554:E24925K	E	-	1	0	TTN	179108196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.754000	0.94517	0.557000	0.71058	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179399950	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179406306	179406306	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179406306G>A	ENST00000591111.1	-	300	92799	c.92575C>T	c.(92575-92577)Cct>Tct	p.P30859S	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23627S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23560S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29932S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23435S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32500S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30859					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGTCCAGGAATACCTGCA	0.428																																																	0													58.0	53.0	55.0					2																	179406306		1914	4114	6028	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92575C>T	2.37:g.179406306G>A	ENSP00000465570:p.Pro30859Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P29932S	ENST00000591111.1	37	c.89794		2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461354	0.84317	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.56	5.56	0.83823	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96015	0.8702	H	0.96398	3.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	D	0.97015	0.9739	9	0.87932	D	0	.	19.5319	0.95232	0.0:0.0:1.0:0.0	.	23435;23560;23627;30859	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	29932;23435;23627;23560;23432	ENSP00000343764:P29932S;ENSP00000434586:P23435S;ENSP00000340554:P23627S;ENSP00000352154:P23560S	ENSP00000340554:P23627S	P	-	1	0	TTN	179114552	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.864000	0.99589	2.616000	0.88540	0.561000	0.74099	CCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179406306	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179407455	179407455	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179407455C>G	ENST00000591111.1	-	298	92427	c.92203G>C	c.(92203-92205)Gaa>Caa	p.E30735Q	TTN_ENST00000342175.6_Missense_Mutation_p.E23503Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23436Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29808Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23311Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32376Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590040.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30735	Ig-like 138.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGTATTCTCCAGTATCT	0.378																																																	0													249.0	237.0	241.0					2																	179407455		1871	4115	5986	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92203G>C	2.37:g.179407455C>G	ENSP00000465570:p.Glu30735Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E29808Q	ENST00000591111.1	37	c.89422		2	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825125	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.55	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58538	0.2129	L	0.33624	1.015	0.40350	D	0.979121	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.27608	0.081;0.081;0.081;0.081	T	0.59467	-0.7449	9	0.87932	D	0	.	13.4504	0.61167	0.0:0.922:0.0:0.078	.	23311;23436;23503;30735	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29808;23311;23503;23436;23308	ENSP00000343764:E29808Q;ENSP00000434586:E23311Q;ENSP00000340554:E23503Q;ENSP00000352154:E23436Q	ENSP00000340554:E23503Q	E	-	1	0	TTN	179115701	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.662000	0.46766	1.291000	0.44653	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179407455	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179426276	179426276	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179426276C>T	ENST00000591111.1	-	276	79884	c.79660G>A	c.(79660-79662)Gaa>Aaa	p.E26554K	TTN_ENST00000342175.6_Missense_Mutation_p.E19322K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19255K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25627K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19130K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28195K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26554	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCTTTCTTTATACTCA	0.398																																																	0													82.0	76.0	78.0					2																	179426276		1892	4104	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79660G>A	2.37:g.179426276C>T	ENSP00000465570:p.Glu26554Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E25627K	ENST00000591111.1	37	c.76879		2	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245385	0.59103	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67230	0.2871	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.57911	0.829;0.829;0.829;0.829	T	0.67260	-0.5715	9	0.87932	D	0	.	20.5073	0.99209	0.0:1.0:0.0:0.0	.	19130;19255;19322;26554	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25627;19130;19322;19255;19128	ENSP00000343764:E25627K;ENSP00000434586:E19130K;ENSP00000340554:E19322K;ENSP00000352154:E19255K	ENSP00000340554:E19322K	E	-	1	0	TTN	179134522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.855000	0.98099	0.585000	0.79938	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179426276	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179436389	179436389	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179436389C>T	ENST00000591111.1	-	276	69771	c.69547G>A	c.(69547-69549)Gat>Aat	p.D23183N	TTN_ENST00000342175.6_Missense_Mutation_p.D15951N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15884N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22256N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15759N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D24824N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23183	Fibronectin type-III 68. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATACTATCAGCTGTCACT	0.443																																																	0													81.0	75.0	77.0					2																	179436389		1864	4103	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69547G>A	2.37:g.179436389C>T	ENSP00000465570:p.Asp23183Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D22256N	ENST00000591111.1	37	c.66766		2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923784	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66548	0.2800	L	0.39085	1.19	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	T	0.67217	-0.5726	9	0.87932	D	0	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	15759;15884;15951;23183	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22256;15759;15951;15884;15757	ENSP00000343764:D22256N;ENSP00000434586:D15759N;ENSP00000340554:D15951N;ENSP00000352154:D15884N	ENSP00000340554:D15951N	D	-	1	0	TTN	179144635	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179436389	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179467112	179467112	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179467112C>G	ENST00000591111.1	-	233	50318	c.50094G>C	c.(50092-50094)ctG>ctC	p.L16698L	TTN_ENST00000342175.6_Silent_p.L9466L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.L9399L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.L15771L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L9274L|TTN_ENST00000589042.1_Silent_p.L18339L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16698	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCTCTTTCAGATTAGGCA	0.413																																																	0													140.0	139.0	139.0					2																	179467112		1892	4110	6002	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50094G>C	2.37:g.179467112C>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L15771	ENST00000591111.1	37	c.47313		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179467112	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179499121	179499121	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179499121C>G	ENST00000591111.1	-	180	37688	c.37464G>C	c.(37462-37464)aaG>aaC	p.K12488N	TTN_ENST00000342175.6_Missense_Mutation_p.K5256N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5189N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K11561N|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K5064N|TTN_ENST00000589042.1_Missense_Mutation_p.K14129N|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12488					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGTCTTCTTGCCCTCCA	0.398																																																	0													58.0	59.0	59.0					2																	179499121		1885	4103	5988	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37464G>C	2.37:g.179499121C>G	ENSP00000465570:p.Lys12488Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K11561N	ENST00000591111.1	37	c.34683		2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014488	0.35511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.17	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72479	0.3465	L	0.41415	1.275	0.42278	D	0.992083	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	T	0.73084	-0.4094	9	0.87932	D	0	.	10.5677	0.45181	0.0:0.7789:0.0:0.2211	.	5064;5189;5256;12488	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	11561;5064;5256;5189;5064	ENSP00000343764:K11561N;ENSP00000434586:K5064N;ENSP00000340554:K5256N;ENSP00000352154:K5189N	ENSP00000340554:K5256N	K	-	3	2	TTN	179207366	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.495000	0.35627	2.941000	0.99782	0.655000	0.94253	AAG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179499121	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TUBA3D	113457	genome.wustl.edu	37	2	132235876	132235876	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:132235876C>G	ENST00000321253.6	+	2	250	c.143C>G	c.(142-144)tCc>tGc	p.S48C		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	48					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGGACGACTCCTTCAACACG	0.562																																					Ovarian(137;2059 2432 35543 39401)												0													96.0	83.0	88.0					2																	132235876		2203	4299	6502	SO:0001583	missense	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.143C>G	2.37:g.132235876C>G	ENSP00000326042:p.Ser48Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S48C	ENST00000321253.6	37	c.143	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	6.059	0.379121	0.11466	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.70986	-0.53	2.47	2.47	0.30058	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.45126	U	0.000396	T	0.72898	0.3518	M	0.87269	2.87	0.49915	D	0.999832	B	0.13145	0.007	B	0.24541	0.054	T	0.75969	-0.3130	10	0.87932	D	0	.	10.6576	0.45684	0.0:1.0:0.0:0.0	.	48	Q13748	TBA3C_HUMAN	C	48	ENSP00000326042:S48C	ENSP00000326042:S48C	S	+	2	0	TUBA3D	131952346	1.000000	0.71417	0.983000	0.44433	0.355000	0.29361	6.679000	0.74513	1.376000	0.46267	0.194000	0.17425	TCC	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	C	NM_080386		132235876	+1	no_errors	ENST00000321253	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179545833	179545833	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:179545833C>G	ENST00000591111.1	-	136	32586	c.32362G>C	c.(32362-32364)Gag>Cag	p.E10788Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9861Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11105Q			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACCTGCTCTTTTTCACGT	0.318																																																	0													90.0	88.0	89.0					2																	179545833		1811	4072	5883	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32362G>C	2.37:g.179545833C>G	ENSP00000465570:p.Glu10788Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9861Q	ENST00000591111.1	37	c.29581		2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339552	0.41398	.	.	ENSG00000155657	ENST00000342992	T	0.61510	0.1	5.92	4.05	0.47172	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.34600	0.0903	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.13791	-1.0496	9	0.87932	D	0	.	11.8066	0.52158	0.0:0.7785:0.151:0.0705	.	10788	Q8WZ42	TITIN_HUMAN	Q	9861	ENSP00000343764:E9861Q	ENSP00000343764:E9861Q	E	-	1	0	TTN	179254078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.690000	0.37711	0.745000	0.32763	0.650000	0.86243	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179545833	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TYK2	7297	genome.wustl.edu	37	19	10468252	10468252	+	Intron	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:10468252G>A	ENST00000525621.1	-	17	2948				TYK2_ENST00000264818.6_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.S885L|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGCACAAGTGACTTCCACAA	0.567																																																	0																																										SO:0001627	intron_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2466+187C>T	19.37:g.10468252G>A			Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_TYK2_N,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S885L	ENST00000525621.1	37	c.2654	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153697	0.06585	.	.	ENSG00000105397	ENST00000529370	D	0.82167	-1.58	1.25	0.0497	0.14290	.	.	.	.	.	T	0.61986	0.2391	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.10450	0.005	T	0.45264	-0.9273	8	0.11182	T	0.66	.	5.0434	0.14471	0.0:0.3843:0.6157:0.0	.	885	E9PPF2	.	L	885	ENSP00000432728:S885L	ENSP00000432728:S885L	S	-	2	0	TYK2	10329252	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.032000	0.03574	0.055000	0.16094	0.460000	0.39030	TCA	TYK2	-	pfscan_Prot_kinase_cat_dom		0.567	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	G			10468252	-1	no_errors	ENST00000529370	ensembl	human	putative	70_37	missense	SNP	0.000	A
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe		Q701P4|Q71RF1	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1	-	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	G	NM_006758		44524456	-1	no_errors	ENST00000291552	ensembl	human	known	70_37	missense	SNP	1.000	A
UBA3	9039	genome.wustl.edu	37	3	69124658	69124658	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:69124658G>C	ENST00000361055.4	-	4	241	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.L49V|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	63	Interaction with UBE2M N-terminus.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAGAACTGGAGAGACTGTAAA	0.343																																																	0													57.0	57.0	57.0					3																	69124658		2203	4300	6503	SO:0001583	missense	9039			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.187C>G	3.37:g.69124658G>C	ENSP00000354340:p.Leu63Val		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.L63V	ENST00000361055.4	37	c.187	CCDS2909.1	3	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956468	0.53293	.	.	ENSG00000144744	ENST00000361055;ENST00000349511	T;T	0.30182	1.54;1.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	L	0.59436	1.845	0.80722	D	1	P;P	0.37914	0.611;0.477	B;B	0.43103	0.408;0.231	T	0.06826	-1.0805	10	0.32370	T	0.25	-7.041	19.7734	0.96382	0.0:0.0:1.0:0.0	.	49;63	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	63;49	ENSP00000354340:L63V;ENSP00000340041:L49V	ENSP00000340041:L49V	L	-	1	0	UBA3	69207348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.361000	0.66092	2.684000	0.91462	0.563000	0.77884	CTC	UBA3	-	NULL		0.343	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	HGNC	protein_coding	OTTHUMT00000334839.1	G	NM_198195		69124658	-1	no_errors	ENST00000361055	ensembl	human	known	70_37	missense	SNP	1.000	C
UBAP1	51271	genome.wustl.edu	37	9	34249786	34249786	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:34249786C>T	ENST00000297661.4	+	5	1328	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	UBAP1_ENST00000359544.2_Missense_Mutation_p.P365S|UBAP1_ENST00000540348.1_Missense_Mutation_p.P365S|UBAP1_ENST00000545103.1_Missense_Mutation_p.P429S|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000536252.1_Missense_Mutation_p.P365S|UBAP1_ENST00000543944.1_Missense_Mutation_p.P401S	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	365					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GGTCACCCCTCCTAATTTCTC	0.547																																					NSCLC(109;1074 1634 14978 20375 39620)												0													102.0	96.0	98.0					9																	34249786		2203	4300	6503	SO:0001583	missense	51271			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1093C>T	9.37:g.34249786C>T	ENSP00000297661:p.Pro365Ser		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.P429S	ENST00000297661.4	37	c.1285	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845728	0.16963	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000359544	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.46	4.57	0.56435	.	0.714705	0.13810	N	0.361171	T	0.47764	0.1463	L	0.44542	1.39	0.29134	N	0.879444	B;P;P;B	0.42692	0.277;0.493;0.787;0.13	B;B;P;B	0.44359	0.109;0.109;0.447;0.055	T	0.40534	-0.9558	10	0.12430	T	0.62	-1.4936	19.3882	0.94566	0.0:0.8849:0.1151:0.0	.	429;401;429;365	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	S	429;401;365;365;365;365	ENSP00000441024:P429S;ENSP00000439806:P401S;ENSP00000440456:P365S;ENSP00000439976:P365S;ENSP00000297661:P365S;ENSP00000352541:P365S	ENSP00000297661:P365S	P	+	1	0	UBAP1	34239786	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.622000	0.46427	0.878000	0.35920	-0.795000	0.03280	CCT	UBAP1	-	NULL		0.547	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	C			34249786	+1	no_errors	ENST00000545103	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE2Q2	92912	genome.wustl.edu	37	15	76136055	76136055	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:76136055C>G	ENST00000267938.4	+	1	430	c.48C>G	c.(46-48)atC>atG	p.I16M	UBE2Q2_ENST00000569423.1_Missense_Mutation_p.I16M|UBE2Q2_ENST00000561851.1_5'Flank|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.I16M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	16					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGCGTCCATCTTCGACAAGA	0.662																																																	0													43.0	38.0	40.0					15																	76136055		2197	4294	6491	SO:0001583	missense	92912			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.48C>G	15.37:g.76136055C>G	ENSP00000267938:p.Ile16Met		B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.I16M	ENST00000267938.4	37	c.48	CCDS10286.1	15	.	.	.	.	.	.	.	.	.	.	c	18.18	3.567693	0.65651	.	.	ENSG00000140367	ENST00000338677;ENST00000267938	T;T	0.54479	0.57;0.57	4.72	1.75	0.24633	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (2);	0.145297	0.43416	U	0.000579	T	0.58821	0.2149	L	0.54323	1.7	0.43296	D	0.995287	D	0.67145	0.996	D	0.69307	0.963	T	0.54576	-0.8273	10	0.49607	T	0.09	.	4.2663	0.10764	0.0:0.5462:0.1698:0.284	.	16	Q8WVN8	UB2Q2_HUMAN	M	16	ENSP00000340187:I16M;ENSP00000267938:I16M	ENSP00000267938:I16M	I	+	3	3	UBE2Q2	73923110	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.306000	0.33505	0.066000	0.16515	0.455000	0.32223	ATC	UBE2Q2	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD		0.662	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	C	NM_173469		76136055	+1	no_errors	ENST00000267938	ensembl	human	known	70_37	missense	SNP	1.000	G
UBE2T	29089	genome.wustl.edu	37	1	202302443	202302443	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:202302443G>A	ENST00000367274.4	-	5	455	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	102					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						TTGCGATGTTGAGGGATGGTC	0.408																																																	0													235.0	230.0	232.0					1																	202302443		2203	4300	6503	SO:0001819	synonymous_variant	29089			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.306C>T	1.37:g.202302443G>A			Q2TU36	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L102	ENST00000367274.4	37	c.306	CCDS1425.1	1																																																																																			UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.408	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	G	NM_014176		202302443	-1	no_errors	ENST00000367274	ensembl	human	known	70_37	silent	SNP	0.935	A
UBE3C	9690	genome.wustl.edu	37	7	157060420	157060420	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:157060420G>C	ENST00000348165.5	+	23	3583	c.3223G>C	c.(3223-3225)Gaa>Caa	p.E1075Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1075	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTATGCGATTGAATGTGCCGC	0.567																																																	0													121.0	113.0	116.0					7																	157060420		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3223G>C	7.37:g.157060420G>C	ENSP00000309198:p.Glu1075Gln		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E1075Q	ENST00000348165.5	37	c.3223	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523012	0.27211	.	.	ENSG00000009335	ENST00000348165	T	0.58940	0.3	5.22	5.22	0.72569	HECT (4);	0.047513	0.85682	D	0.000000	T	0.49729	0.1574	N	0.17631	0.505	0.80722	D	1	B;B	0.33379	0.41;0.41	B;B	0.42882	0.401;0.336	T	0.38585	-0.9654	10	0.08179	T	0.78	-23.8765	18.7943	0.91988	0.0:0.0:1.0:0.0	.	1075;928	Q15386;B4DHJ9	UBE3C_HUMAN;.	Q	1075	ENSP00000309198:E1075Q	ENSP00000309198:E1075Q	E	+	1	0	UBE3C	156753181	1.000000	0.71417	0.622000	0.29159	0.489000	0.33432	9.267000	0.95665	2.428000	0.82296	0.650000	0.86243	GAA	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.567	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157060420	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	C
UBFD1	56061	genome.wustl.edu	37	16	23568823	23568823	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:23568823C>G	ENST00000395878.3	+	0	141				UBFD1_ENST00000567212.1_5'Flank|EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000219638.4_Silent_p.L144L|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000564501.1_5'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1								poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CGGCCGCACTCGCCACCAGGG	0.692																																					Melanoma(22;290 1069 22358 48158)												0																																										SO:0001623	5_prime_UTR_variant	56061			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.-241C>G	16.37:g.23568823C>G			A8MW58|D3DWF2	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L144	ENST00000395878.3	37	c.432	CCDS10613.2	16																																																																																			UBFD1	-	NULL		0.692	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000250795.2	C	NM_019116		23568823	+1	no_errors	ENST00000219638	ensembl	human	known	70_37	silent	SNP	0.000	G
UBXN7	26043	genome.wustl.edu	37	3	196159282	196159282	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:196159282C>G	ENST00000296328.4	-	0	63				UBXN7-AS1_ENST00000442941.1_RNA|UBXN7-AS1_ENST00000598881.1_RNA|UBXN7_ENST00000428095.1_5'UTR|UBXN7_ENST00000535858.1_5'UTR	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7							Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTACCGCCGCCGCCGCCGCCG	0.667																																																	0													13.0	18.0	16.0					3																	196159282		1897	4073	5970	SO:0001623	5_prime_UTR_variant	100874034			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.-12G>C	3.37:g.196159282C>G			D3DXB3|Q6ZP77|Q86X20|Q8N327	RNA	SNP	-	NULL	ENST00000296328.4	37	NULL	CCDS43191.1	3																																																																																			UBXN7-AS1	-	-		0.667	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7-AS1	HGNC	protein_coding	OTTHUMT00000340938.2	C	XM_087353		196159282	+1	no_errors	ENST00000442941	ensembl	human	known	70_37	rna	SNP	1.000	G
UCP1	7350	genome.wustl.edu	37	4	141484349	141484349	+	Silent	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:141484349C>G	ENST00000262999.3	-	4	618	c.543G>C	c.(541-543)ctG>ctC	p.L181L		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	181					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CACTTCTCATCAGATTGGGAG	0.343																																																	0													109.0	108.0	108.0					4																	141484349		2203	4300	6503	SO:0001819	synonymous_variant	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.543G>C	4.37:g.141484349C>G			Q13218|Q4KMZ3|Q68G66	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.L181	ENST00000262999.3	37	c.543	CCDS3753.1	4																																																																																			UCP1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.343	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	HGNC	protein_coding	OTTHUMT00000257273.1	C			141484349	-1	no_errors	ENST00000262999	ensembl	human	known	70_37	silent	SNP	0.961	G
UFD1L	7353	genome.wustl.edu	37	22	19452740	19452740	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:19452740G>C	ENST00000263202.10	-	6	609	c.480C>G	c.(478-480)atC>atG	p.I160M	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.I160M|UFD1L_ENST00000360834.4_Missense_Mutation_p.I149M	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	160					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATTATAGTTGATGGCAATCA	0.458																																																	0													155.0	131.0	139.0					22																	19452740		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.480C>G	22.37:g.19452740G>C	ENSP00000263202:p.Ile160Met		A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.I160M	ENST00000263202.10	37	c.480	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068340	0.76301	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.71	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.89214	3.015	0.58432	D	0.999997	P;P;P	0.43477	0.808;0.676;0.676	D;D;D	0.72625	0.964;0.935;0.978	T	0.78703	-0.2101	10	0.72032	D	0.01	.	10.8404	0.46710	0.1434:0.0:0.8566:0.0	.	160;160;160	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	M	160;149;160;196;64;149	ENSP00000263202:I160M;ENSP00000354079:I149M;ENSP00000382439:I160M;ENSP00000402136:I64M;ENSP00000406680:I149M	ENSP00000263202:I160M	I	-	3	3	UFD1L	17832740	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.841000	0.55850	1.423000	0.47198	0.561000	0.74099	ATC	UFD1L	-	pfam_UFD1		0.458	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19452740	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	C
UGGT1	56886	genome.wustl.edu	37	2	128917157	128917157	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:128917157C>G	ENST00000259253.6	+	23	2472	c.2425C>G	c.(2425-2427)Cag>Gag	p.Q809E	UGGT1_ENST00000375990.3_Missense_Mutation_p.Q785E	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	809					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGAGAACACTCAGATCTCCAG	0.453																																																	0													94.0	95.0	95.0					2																	128917157		2203	4300	6503	SO:0001583	missense	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2425C>G	2.37:g.128917157C>G	ENSP00000259253:p.Gln809Glu		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.Q809E	ENST00000259253.6	37	c.2425	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666714	0.03428	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.27557	1.66;1.66	5.64	3.78	0.43462	.	0.854900	0.10797	N	0.633122	T	0.14485	0.0350	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.003	T	0.29671	-1.0004	9	.	.	.	.	10.7199	0.46034	0.3833:0.5032:0.1134:0.0	.	785;809	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	E	785;809	ENSP00000365158:Q785E;ENSP00000259253:Q809E	.	Q	+	1	0	UGGT1	128633627	0.001000	0.12720	0.485000	0.27403	0.849000	0.48306	0.831000	0.27476	0.794000	0.33899	0.650000	0.86243	CAG	UGGT1	-	NULL		0.453	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	C	NM_020120		128917157	+1	no_errors	ENST00000259253	ensembl	human	known	70_37	missense	SNP	0.202	G
UNC13A	23025	genome.wustl.edu	37	19	17738365	17738365	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:17738365C>T	ENST00000519716.2	-	33	3872	c.3873G>A	c.(3871-3873)gtG>gtA	p.V1291V	UNC13A_ENST00000550896.1_Silent_p.V1289V|UNC13A_ENST00000252773.7_Silent_p.V1291V|UNC13A_ENST00000552293.1_Silent_p.V1291V|UNC13A_ENST00000551649.1_Silent_p.V1291V|UNC13A_ENST00000428389.2_Silent_p.V1379V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1291					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TATTGAGTTTCACCTGAAGCT	0.562																																																	0													23.0	27.0	26.0					19																	17738365		1969	4150	6119	SO:0001819	synonymous_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3873G>A	19.37:g.17738365C>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1379	ENST00000519716.2	37	c.4137	CCDS46013.2	19																																																																																			UNC13A	-	NULL		0.562	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	C	XM_038604		17738365	-1	no_errors	ENST00000428389	ensembl	human	known	70_37	silent	SNP	1.000	T
UNC5D	137970	genome.wustl.edu	37	8	35608103	35608103	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:35608103G>A	ENST00000404895.2	+	13	2267	c.1939G>A	c.(1939-1941)Gtg>Atg	p.V647M	UNC5D_ENST00000287272.2_Missense_Mutation_p.V578M|UNC5D_ENST00000449677.1_Missense_Mutation_p.V223M|UNC5D_ENST00000420357.1_Missense_Mutation_p.V580M|UNC5D_ENST00000453357.2_Missense_Mutation_p.V642M|UNC5D_ENST00000416672.1_Missense_Mutation_p.V652M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	647					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAACAGGAAGTGATGTCAGT	0.413																																																	0													177.0	148.0	158.0					8																	35608103		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1939G>A	8.37:g.35608103G>A	ENSP00000385143:p.Val647Met		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.V647M	ENST00000404895.2	37	c.1939	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020448	0.75275	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.58940	0.32;0.73;0.72;0.33;0.3;2.2	5.9	5.9	0.94986	.	0.113021	0.64402	D	0.000008	T	0.72558	0.3475	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.56746	0.961;0.977;0.961	P;P;P	0.58873	0.621;0.847;0.708	T	0.75590	-0.3265	10	0.87932	D	0	-18.6973	13.4767	0.61312	0.0712:0.0:0.9288:0.0	.	223;642;647	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	M	647;580;578;652;642;223	ENSP00000385143:V647M;ENSP00000392739:V580M;ENSP00000287272:V578M;ENSP00000412652:V652M;ENSP00000394303:V642M;ENSP00000397211:V223M	ENSP00000287272:V578M	V	+	1	0	UNC5D	35727645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.444000	0.73452	2.806000	0.96561	0.655000	0.94253	GTG	UNC5D	-	NULL		0.413	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35608103	+1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	A
UPP2	151531	genome.wustl.edu	37	2	158980369	158980369	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:158980369C>T	ENST00000005756.4	+	6	967	c.773C>T	c.(772-774)aCa>aTa	p.T258I	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.T315I|UPP2_ENST00000605860.1_Missense_Mutation_p.T315I	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	258				ESTVFAA -> GIYSVCS (in Ref. 1; AAO61681). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATGGAATCTACAGTGTTTGCA	0.403																																																	0													144.0	135.0	138.0					2																	158980369		2203	4300	6503	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.773C>T	2.37:g.158980369C>T	ENSP00000005756:p.Thr258Ile		B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.T315I	ENST00000005756.4	37	c.944	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963635	0.53507	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.86769	-2.17;-2.17	4.79	4.79	0.61399	Nucleoside phosphorylase domain (1);	0.167220	0.51477	D	0.000082	D	0.92766	0.7700	M	0.73962	2.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.92441	0.5962	10	0.44086	T	0.13	.	16.5801	0.84712	0.0:1.0:0.0:0.0	.	258	O95045	UPP2_HUMAN	I	315;258	ENSP00000387230:T315I;ENSP00000005756:T258I	ENSP00000005756:T258I	T	+	2	0	UPP2	158688615	0.858000	0.29795	0.994000	0.49952	0.449000	0.32228	4.584000	0.60971	2.481000	0.83766	0.551000	0.68910	ACA	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk		0.403	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	C	NM_173355		158980369	+1	no_errors	ENST00000409859	ensembl	human	known	70_37	missense	SNP	0.998	T
UNC80	285175	genome.wustl.edu	37	2	210752960	210752960	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:210752960G>C	ENST00000439458.1	+	26	4338	c.4258G>C	c.(4258-4260)Gat>Cat	p.D1420H	UNC80_ENST00000272845.6_Missense_Mutation_p.D1415H	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1420					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCTCAAATCAGATGCAGGAGT	0.453																																																	0													32.0	31.0	31.0					2																	210752960		692	1591	2283	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.4258G>C	2.37:g.210752960G>C	ENSP00000391088:p.Asp1420His		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.D1420H	ENST00000439458.1	37	c.4258	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000090	0.74818	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.32988	1.43;1.43	5.87	5.87	0.94306	.	0.053091	0.64402	D	0.000001	T	0.45716	0.1356	L	0.40543	1.245	0.80722	D	1	P	0.48589	0.912	P	0.56960	0.81	T	0.08617	-1.0713	10	0.48119	T	0.1	-21.5351	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1420	Q8N2C7	UNC80_HUMAN	H	1420;1415	ENSP00000391088:D1420H;ENSP00000272845:D1415H	ENSP00000272845:D1415H	D	+	1	0	UNC80	210461205	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAT	UNC80	-	NULL		0.453	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210752960	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	1.000	C
UQCRFS1	7386	genome.wustl.edu	37	19	29698958	29698958	+	Missense_Mutation	SNP	C	C	T	rs141991079	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:29698958C>T	ENST00000304863.4	-	2	744	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	108					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.E108K(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TTCCTAGCCTCGCTGCTTTCT	0.468																																																	1	Substitution - Missense(1)	lung(1)						C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	103.0	81.0	88.0		322	4.4	0.7	19	dbSNP_134	88	0,8600		0,0,4300	no	missense	UQCRFS1	NM_006003.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	108/275	29698958	2,13004	2203	4300	6503	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.322G>A	19.37:g.29698958C>T	ENSP00000306397:p.Glu108Lys		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.E108K	ENST00000304863.4	37	c.322	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280532	0.23392	4.54E-4	0.0	ENSG00000169021	ENST00000304863	T	0.43294	0.95	5.42	4.37	0.52481	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.103648	0.64402	D	0.000004	T	0.45677	0.1354	M	0.78456	2.415	0.54753	D	0.999985	B	0.23058	0.079	B	0.19946	0.027	T	0.41734	-0.9492	10	0.33141	T	0.24	.	14.893	0.70623	0.0:0.8507:0.1493:0.0	.	108	P47985	UCRI_HUMAN	K	108	ENSP00000306397:E108K	ENSP00000306397:E108K	E	-	1	0	UQCRFS1	34390798	1.000000	0.71417	0.717000	0.30585	0.088000	0.18126	4.551000	0.60740	1.243000	0.43853	0.462000	0.41574	GAG	UQCRFS1	-	pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM		0.468	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1	C	NM_006003		29698958	-1	no_errors	ENST00000304863	ensembl	human	known	70_37	missense	SNP	0.991	T
URGCP	55665	genome.wustl.edu	37	7	43916664	43916664	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43916664G>A	ENST00000453200.1	-	6	2891	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	URGCP_ENST00000402306.3_Silent_p.L791L|URGCP_ENST00000223341.7_Silent_p.L757L|URGCP_ENST00000447717.3_Silent_p.L757L|URGCP_ENST00000443736.1_Silent_p.L757L|URGCP_ENST00000336086.6_Silent_p.L757L|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	800	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AATGCATGCAGAATAGCTGCT	0.502																																																	0													120.0	116.0	117.0					7																	43916664		1987	4167	6154	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2398C>T	7.37:g.43916664G>A			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	prints_GTP_binding_domain	p.L800	ENST00000453200.1	37	c.2398	CCDS47578.1	7																																																																																			URGCP	-	NULL		0.502	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	G	NM_001077664		43916664	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	silent	SNP	0.915	A
URGCP	55665	genome.wustl.edu	37	7	43918600	43918600	+	Silent	SNP	C	C	T	rs549264023		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:43918600C>T	ENST00000453200.1	-	6	955	c.462G>A	c.(460-462)gaG>gaA	p.E154E	URGCP_ENST00000402306.3_Silent_p.E145E|URGCP_ENST00000223341.7_Silent_p.E111E|URGCP_ENST00000447717.3_Silent_p.E111E|URGCP_ENST00000443736.1_Silent_p.E111E|URGCP_ENST00000336086.6_Silent_p.E111E|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	154					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTAGATGATCTCCTCTTCCA	0.552																																																	0													90.0	97.0	95.0					7																	43918600		2054	4194	6248	SO:0001819	synonymous_variant	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.462G>A	7.37:g.43918600C>T			E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	prints_GTP_binding_domain	p.E154	ENST00000453200.1	37	c.462	CCDS47578.1	7																																																																																			URGCP	-	NULL		0.552	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	C	NM_001077664		43918600	-1	no_errors	ENST00000453200	ensembl	human	known	70_37	silent	SNP	0.000	T
USP28	57646	genome.wustl.edu	37	11	113685932	113685932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:113685932G>A	ENST00000003302.4	-	14	1704	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	USP28_ENST00000537706.1_Nonsense_Mutation_p.Q546*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q421*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q254*|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q546*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	546	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCCATCTCTGAAGACAGGTC	0.393																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													138.0	129.0	132.0					11																	113685932		2201	4296	6497	SO:0001587	stop_gained	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1636C>T	11.37:g.113685932G>A	ENSP00000003302:p.Gln546*		B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.Q546*	ENST00000003302.4	37	c.1636	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.806965	0.97853	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	.	.	.	5.97	4.11	0.48088	.	0.052954	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-18.7425	12.329	0.55028	0.1359:0.0:0.8641:0.0	.	.	.	.	X	546;546;254;421;250;546	.	ENSP00000003302:Q546X	Q	-	1	0	USP28	113191142	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.016000	0.64041	1.537000	0.49254	0.585000	0.79938	CAG	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.393	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	G			113685932	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP34	9736	genome.wustl.edu	37	2	61520659	61520659	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:61520659C>G	ENST00000398571.2	-	33	4564	c.4488G>C	c.(4486-4488)caG>caC	p.Q1496H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1496					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTCTAATAACTGTTGAAGCC	0.343																																																	0													84.0	76.0	79.0					2																	61520659		1816	4074	5890	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4488G>C	2.37:g.61520659C>G	ENSP00000381577:p.Gln1496His		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.Q1496H	ENST00000398571.2	37	c.4488	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	3.992	-0.004294	0.07773	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.02737	4.18	5.6	2.39	0.29439	.	0.062575	0.64402	D	0.000004	T	0.01189	0.0039	N	0.02708	-0.52	0.36022	D	0.838828	P	0.50943	0.94	B	0.38562	0.276	T	0.66131	-0.6000	10	0.17369	T	0.5	.	9.2575	0.37593	0.0:0.6153:0.0:0.3847	.	1496	Q70CQ2	UBP34_HUMAN	H	1344;1344;1496	ENSP00000381577:Q1496H	ENSP00000263989:Q1344H	Q	-	3	2	USP34	61374163	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	0.463000	0.21972	0.723000	0.32274	0.650000	0.86243	CAG	USP34	-	superfamily_ARM-type_fold		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61520659	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	0.996	G
USP45	85015	genome.wustl.edu	37	6	99893792	99893792	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:99893792G>A	ENST00000327681.6	-	14	2388	c.1856C>T	c.(1855-1857)tCa>tTa	p.S619L	USP45_ENST00000392738.2_Missense_Mutation_p.S299L|USP45_ENST00000500704.2_Missense_Mutation_p.S619L|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.S571L	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	619	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGACTGAATTGAACATTCTTT	0.338																																																	0													54.0	58.0	57.0					6																	99893792		2202	4299	6501	SO:0001583	missense	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1856C>T	6.37:g.99893792G>A	ENSP00000333376:p.Ser619Leu		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S619L	ENST00000327681.6	37	c.1856	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010725	0.93346	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.35973	1.28;3.84;3.84;1.28	5.58	5.58	0.84498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67515	-0.5651	10	0.87932	D	0	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	619;299	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	L	299;619;619;571	ENSP00000376495:S299L;ENSP00000424372:S619L;ENSP00000333376:S619L;ENSP00000358236:S571L	ENSP00000333376:S619L	S	-	2	0	USP45	100000513	1.000000	0.71417	0.923000	0.36655	0.614000	0.37383	9.476000	0.97823	2.626000	0.88956	0.655000	0.94253	TCA	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.338	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	G	NM_032929		99893792	-1	no_errors	ENST00000327681	ensembl	human	known	70_37	missense	SNP	1.000	A
UXS1	80146	genome.wustl.edu	37	2	106710565	106710565	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:106710565C>T	ENST00000409501.3	-	15	1237	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	UXS1_ENST00000540130.1_Missense_Mutation_p.E337K|UXS1_ENST00000409032.1_Missense_Mutation_p.E226K|UXS1_ENST00000283148.7_Missense_Mutation_p.E399K			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	394					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TACTCGAGTTCTTTACGGAAG	0.463																																																	0													258.0	243.0	248.0					2																	106710565		1951	4137	6088	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1180G>A	2.37:g.106710565C>T	ENSP00000387019:p.Glu394Lys		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.E399K	ENST00000409501.3	37	c.1195	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688578	0.68271	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.50847	1.595	0.80722	D	1	B;B;B	0.30361	0.277;0.182;0.182	B;B;B	0.35182	0.197;0.097;0.097	T	0.56318	-0.7999	10	0.24483	T	0.36	-8.009	19.7704	0.96361	0.0:1.0:0.0:0.0	.	399;394;399	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	K	399;337;394;226	ENSP00000283148:E399K;ENSP00000438265:E337K;ENSP00000387019:E394K;ENSP00000387096:E226K	ENSP00000283148:E399K	E	-	1	0	UXS1	106076997	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.329000	0.79170	2.670000	0.90874	0.563000	0.77884	GAA	UXS1	-	NULL		0.463	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	C	NM_025076.3		106710565	-1	no_errors	ENST00000283148	ensembl	human	known	70_37	missense	SNP	1.000	T
VAV1	7409	genome.wustl.edu	37	19	6828465	6828465	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:6828465G>A	ENST00000602142.1	+	11	1141	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	VAV1_ENST00000596764.1_Silent_p.K321K|VAV1_ENST00000539284.1_Silent_p.K256K|VAV1_ENST00000304076.2_Silent_p.K353K|VAV1_ENST00000599806.1_Silent_p.K298K	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	353	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGATGGAGAAGGAGAACCTGC	0.632																																																	0													62.0	64.0	63.0					19																	6828465		2203	4300	6503	SO:0001819	synonymous_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1059G>A	19.37:g.6828465G>A			B4DVK9|M0QXX6|Q15860	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.K353	ENST00000602142.1	37	c.1059	CCDS12174.1	19																																																																																			VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.632	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	G			6828465	+1	no_errors	ENST00000602142	ensembl	human	known	70_37	silent	SNP	1.000	A
VCX3A	51481	genome.wustl.edu	37	X	6451978	6451978	+	Silent	SNP	T	T	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:6451978T>C	ENST00000381089.3	-	3	675	c.369A>G	c.(367-369)ccA>ccG	p.P123P	VCX3A_ENST00000398729.1_Intron	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	123	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CCTGACTCAGTGGTTCTTCCA	0.622																																																	0													10.0	11.0	11.0					X																	6451978		1731	3573	5304	SO:0001819	synonymous_variant	51481			AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"""variable charge, X-linked 3"""	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.369A>G	X.37:g.6451978T>C			Q9P0H4	Silent	SNP	NULL	p.P123	ENST00000381089.3	37	c.369	CCDS35199.1	X																																																																																			VCX3A	-	NULL		0.622	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX3A	HGNC	protein_coding	OTTHUMT00000055679.1	T	NM_016379		6451978	-1	no_errors	ENST00000381089	ensembl	human	known	70_37	silent	SNP	0.001	C
VEGFA	7422	genome.wustl.edu	37	6	43745289	43745289	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43745289G>A	ENST00000523873.1	+	3	240	c.202G>A	c.(202-204)Gag>Aag	p.E68K	VEGFA_ENST00000372077.4_Missense_Mutation_p.E68K|VEGFA_ENST00000324450.6_Missense_Mutation_p.E248K|VEGFA_ENST00000518824.1_Missense_Mutation_p.E68K|VEGFA_ENST00000413642.3_Missense_Mutation_p.E248K|VEGFA_ENST00000457104.2_Missense_Mutation_p.E68K|VEGFA_ENST00000417285.2_Missense_Mutation_p.E248K|VEGFA_ENST00000372067.3_Missense_Mutation_p.E248K|VEGFA_ENST00000425836.2_Missense_Mutation_p.E248K|VEGFA_ENST00000372064.4_Missense_Mutation_p.E248K|VEGFA_ENST00000523125.1_Missense_Mutation_p.E68K|VEGFA_ENST00000518689.1_Missense_Mutation_p.E68K|VEGFA_ENST00000372055.4_Missense_Mutation_p.E248K|VEGFA_ENST00000482630.2_Missense_Mutation_p.E248K|VEGFA_ENST00000523950.1_Missense_Mutation_p.E68K|VEGFA_ENST00000520948.1_Missense_Mutation_p.E68K|VEGFA_ENST00000230480.6_Missense_Mutation_p.E40K			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	68					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	GTACCCTGATGAGATCGAGTA	0.562																																																	0													149.0	109.0	123.0					6																	43745289		2203	4300	6503	SO:0001583	missense	7422			AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.202G>A	6.37:g.43745289G>A	ENSP00000430479:p.Glu68Lys		B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E248K	ENST00000523873.1	37	c.742	CCDS55010.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047717	0.93740	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	5.06	5.06	0.68205	Platelet-derived growth factor (PDGF) (3);	0.209202	0.48767	D	0.000168	T	0.70988	0.3287	M	0.80028	2.48	0.58432	D	0.999999	P;B;P;B;P;B;B;P;P	0.49783	0.928;0.389;0.485;0.34;0.663;0.395;0.109;0.877;0.774	P;B;B;B;P;B;B;P;P	0.54026	0.614;0.295;0.395;0.171;0.45;0.21;0.219;0.585;0.74	T	0.75858	-0.3169	9	0.66056	D	0.02	-1.4969	17.7957	0.88570	0.0:0.0:1.0:0.0	.	68;248;68;248;68;248;248;68;68	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	K	248;248;248;248;248;248;248;248;68;68;68;68;68;68;68;68;40;42	.	ENSP00000230480:E40K	E	+	1	0	VEGFA	43853267	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.628000	0.74262	2.510000	0.84645	0.580000	0.79431	GAG	VEGFA	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.562	VEGFA-021	KNOWN	basic|CCDS	protein_coding	VEGFA	HGNC	protein_coding	OTTHUMT00000374460.1	G	NM_001025366		43745289	+1	no_errors	ENST00000372055	ensembl	human	known	70_37	missense	SNP	1.000	A
VNN1	8876	genome.wustl.edu	37	6	133035100	133035100	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:133035100G>A	ENST00000367928.4	-	1	88	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	25	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CAGCTGCAGTGAAAGTGTCCT	0.473																																																	0													97.0	84.0	88.0					6																	133035100		2203	4300	6503	SO:0001819	synonymous_variant	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.75C>T	6.37:g.133035100G>A			A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.F25	ENST00000367928.4	37	c.75	CCDS5159.1	6																																																																																			VNN1	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.473	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	G			133035100	-1	no_errors	ENST00000367928	ensembl	human	known	70_37	silent	SNP	0.003	A
VNN2	8875	genome.wustl.edu	37	6	133065601	133065601	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:133065601C>G	ENST00000326499.6	-	7	1525	c.1401G>C	c.(1399-1401)aaG>aaC	p.K467N	VNN2_ENST00000525270.1_Missense_Mutation_p.K414N|VNN2_ENST00000525289.1_Missense_Mutation_p.K246N	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	467					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ATGATCCATTCTTGTTTACCA	0.398																																																	0													121.0	104.0	110.0					6																	133065601		2203	4300	6503	SO:0001583	missense	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1401G>C	6.37:g.133065601C>G	ENSP00000322276:p.Lys467Asn		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.K467N	ENST00000326499.6	37	c.1401	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920549	0.33908	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.94793	-3.52;-3.52;-3.52	4.53	3.58	0.41010	.	0.387044	0.24720	N	0.036149	D	0.87006	0.6070	M	0.64404	1.975	0.09310	N	0.999994	P;P	0.42518	0.782;0.67	B;B	0.40444	0.329;0.131	T	0.79070	-0.1954	10	0.17832	T	0.49	-16.2046	9.402	0.38437	0.3401:0.6599:0.0:0.0	.	246;467	O95498-2;O95498	.;VNN2_HUMAN	N	467;414;246	ENSP00000322276:K467N;ENSP00000436822:K414N;ENSP00000436935:K246N	ENSP00000322276:K467N	K	-	3	2	VNN2	133107294	0.339000	0.24784	0.242000	0.24170	0.964000	0.63967	1.865000	0.39479	2.199000	0.70637	0.655000	0.94253	AAG	VNN2	-	pirsf_Biotinidase_euk		0.398	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	C			133065601	-1	no_errors	ENST00000326499	ensembl	human	known	70_37	missense	SNP	0.599	G
VPS11	55823	genome.wustl.edu	37	11	118938721	118938721	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:118938721G>C	ENST00000300793.6	+	1	229	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RP11-110I1.13_ENST00000607709.1_RNA|VPS11_ENST00000527798.1_3'UTR|RP11-110I1.14_ENST00000607857.1_lincRNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	63					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTCTTTGGAGATATCCTTCG	0.587																																																	0													30.0	31.0	31.0					11																	118938721		1955	4130	6085	SO:0001630	splice_region_variant	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.187+1G>C	11.37:g.118938721G>C			Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.587	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729	Missense_Mutation	118938721	+1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	C
VPS13A	23230	genome.wustl.edu	37	9	79932560	79932560	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:79932560G>A	ENST00000360280.3	+	40	5162	c.4902G>A	c.(4900-4902)caG>caA	p.Q1634Q	VPS13A_ENST00000376636.3_Silent_p.Q1595Q|VPS13A_ENST00000376634.4_Silent_p.Q1634Q|VPS13A_ENST00000357409.5_Silent_p.Q1634Q|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1634					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAACTACTCAGAAAGGTACAG	0.269																																																	0													34.0	35.0	35.0					9																	79932560		2201	4295	6496	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4902G>A	9.37:g.79932560G>A			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.Q1634	ENST00000360280.3	37	c.4902	CCDS6655.1	9																																																																																			VPS13A	-	NULL		0.269	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79932560	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	silent	SNP	0.584	A
VPS13C	54832	genome.wustl.edu	37	15	62146686	62146686	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:62146686C>T	ENST00000261517.5	-	85	11305	c.11232G>A	c.(11230-11232)gtG>gtA	p.V3744V	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Silent_p.V3701V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGAAGTCTCACTGATGACT	0.408																																																	0													215.0	192.0	200.0					15																	62146686		2203	4300	6503	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11232G>A	15.37:g.62146686C>T				Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V3744	ENST00000261517.5	37	c.11232	CCDS32257.1	15																																																																																			VPS13C	-	NULL		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62146686	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.677	T
VPS13C	54832	genome.wustl.edu	37	15	62264905	62264905	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:62264905C>G	ENST00000261517.5	-	27	2749	c.2676G>C	c.(2674-2676)atG>atC	p.M892I	VPS13C_ENST00000395898.3_Missense_Mutation_p.M849I|VPS13C_ENST00000395896.4_Missense_Mutation_p.M892I|VPS13C_ENST00000249837.3_Missense_Mutation_p.M849I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGATCCTTTCATACTTTTAC	0.343																																																	0													130.0	129.0	129.0					15																	62264905		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2676G>C	15.37:g.62264905C>G	ENSP00000261517:p.Met892Ile			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.M892I	ENST00000261517.5	37	c.2676	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.612685	0.00835	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16457	2.34;2.34;2.34	5.29	-1.97	0.07503	.	2.083230	0.01538	N	0.019097	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.17837	-1.0356	10	0.09338	T	0.73	.	0.5879	0.00723	0.2865:0.3114:0.1789:0.2231	.	849;892;849;892	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	849;892;892;892	ENSP00000249837:M849I;ENSP00000261517:M892I;ENSP00000379233:M892I	ENSP00000249837:M849I	M	-	3	0	VPS13C	60052197	0.000000	0.05858	0.001000	0.08648	0.553000	0.35397	-0.920000	0.04013	-0.190000	0.10465	-0.293000	0.09583	ATG	VPS13C	-	NULL		0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62264905	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	0.002	G
VPS41	27072	genome.wustl.edu	37	7	38860835	38860835	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:38860835C>G	ENST00000310301.4	-	6	406	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E93Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	118					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGTGAAATTCTTCTCCAGAA	0.368																																																	0													98.0	102.0	101.0					7																	38860835		2203	4300	6503	SO:0001583	missense	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.352G>C	7.37:g.38860835C>G	ENSP00000309457:p.Glu118Gln		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.E118Q	ENST00000310301.4	37	c.352	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815907	0.70912	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048886	0.85682	D	0.000000	T	0.33731	0.0873	N	0.22421	0.69	0.46981	D	0.999273	P;P;P	0.34909	0.475;0.475;0.475	B;B;B	0.29176	0.099;0.099;0.099	T	0.10222	-1.0639	10	0.17369	T	0.5	-22.3689	18.4176	0.90575	0.0:1.0:0.0:0.0	.	118;93;118	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	118;93;44;105;68;68	ENSP00000309457:E118Q;ENSP00000379297:E93Q;ENSP00000412974:E44Q;ENSP00000411919:E105Q;ENSP00000407835:E68Q;ENSP00000398584:E68Q	ENSP00000265745:E118Q	E	-	1	0	VPS41	38827360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.206000	0.72154	2.788000	0.95919	0.555000	0.69702	GAA	VPS41	-	superfamily_WD40_repeat_dom,pirsf_VPS41		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	C			38860835	-1	no_errors	ENST00000310301	ensembl	human	known	70_37	missense	SNP	1.000	G
VPS45	11311	genome.wustl.edu	37	1	150048382	150048382	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:150048382G>C	ENST00000369130.3	+	4	907	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	VPS45_ENST00000535106.1_Missense_Mutation_p.E121Q|VPS45_ENST00000369128.5_Missense_Mutation_p.E85Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	121					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.E121Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGTGGCTGAGGTTCAGGT	0.388																																																	1	Substitution - Missense(1)	lung(1)											181.0	159.0	166.0					1																	150048382		2203	4300	6503	SO:0001583	missense	11311			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.361G>C	1.37:g.150048382G>C	ENSP00000358126:p.Glu121Gln		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.E121Q	ENST00000369130.3	37	c.361	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567156	0.65651	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000535106;ENST00000419023	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	L	0.49640	1.575	0.28302	N	0.923074	D;D;B;B	0.89917	0.998;1.0;0.236;0.236	D;D;B;B	0.85130	0.994;0.997;0.173;0.173	T	0.73372	-0.4003	10	0.45353	T	0.12	-25.6742	18.1223	0.89576	0.0:0.0:1.0:0.0	.	85;85;121;121	F5H8K1;B7Z7G7;Q53FR8;Q9NRW7	.;.;.;VPS45_HUMAN	Q	121;85;121;121	ENSP00000358126:E121Q;ENSP00000358124:E85Q;ENSP00000440690:E121Q;ENSP00000400143:E121Q	ENSP00000358124:E85Q	E	+	1	0	VPS45	148315006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.518000	0.84900	0.655000	0.94253	GAG	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like		0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	G	NM_007259		150048382	+1	no_errors	ENST00000369130	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS52	6293	genome.wustl.edu	37	6	33218669	33218669	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:33218669G>C	ENST00000445902.2	-	20	2339	c.2121C>G	c.(2119-2121)atC>atG	p.I707M	HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000436044.2_Missense_Mutation_p.I582M|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000442228.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	707					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAATGTTGATGAGCTCAG	0.592																																																	0													108.0	96.0	100.0					6																	33218669		1511	2709	4220	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.2121C>G	6.37:g.33218669G>C	ENSP00000409952:p.Ile707Met		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.I707M	ENST00000445902.2	37	c.2121	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854857	0.71719	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.71581	2.175	0.51012	D	0.999905	D;D	0.63046	0.982;0.992	P;P	0.59357	0.856;0.812	T	0.66200	-0.5983	9	0.59425	D	0.04	-19.0106	11.2767	0.49172	0.0:0.0:0.817:0.183	.	518;707	B3KMF7;Q8N1B4	.;VPS52_HUMAN	M	707;685;582	.	ENSP00000414785:I685M	I	-	3	3	VPS52	33326647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.081000	0.64444	2.612000	0.88384	0.551000	0.68910	ATC	VPS52	-	NULL		0.592	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33218669	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS52	6293	genome.wustl.edu	37	6	33239391	33239391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:33239391G>C	ENST00000445902.2	-	1	280	c.62C>G	c.(61-63)tCa>tGa	p.S21*	VPS52_ENST00000436044.2_Intron|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_Nonsense_Mutation_p.S21*|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	21					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCATATCTGAGGTCCCAGC	0.647																																																	0													23.0	24.0	24.0					6																	33239391		2201	4299	6500	SO:0001587	stop_gained	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.62C>G	6.37:g.33239391G>C	ENSP00000409952:p.Ser21*		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.S21*	ENST00000445902.2	37	c.62	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	G	38	6.984777	0.97983	.	.	ENSG00000223501	ENST00000482399;ENST00000445902	.	.	.	5.53	4.67	0.58626	.	0.515509	0.17694	N	0.165177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.164	10.13	0.42674	0.0892:0.0:0.9108:0.0	.	.	.	.	X	21	.	ENSP00000409952:S21X	S	-	2	0	VPS52	33347369	0.990000	0.36364	0.778000	0.31720	0.868000	0.49771	2.770000	0.47662	1.586000	0.49944	0.643000	0.83706	TCA	VPS52	-	NULL		0.647	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33239391	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	nonsense	SNP	0.984	C
VRTN	55237	genome.wustl.edu	37	14	74824600	74824600	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr14:74824600G>A	ENST00000256362.4	+	2	1355	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	372					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCTGGGCATGGAGGAGCTAGA	0.647																																																	0													38.0	38.0	38.0					14																	74824600		2203	4300	6503	SO:0001583	missense	55237			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1114G>A	14.37:g.74824600G>A	ENSP00000256362:p.Glu372Lys		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.E372K	ENST00000256362.4	37	c.1114	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253260	0.10185	.	.	ENSG00000133980	ENST00000256362	T	0.48836	0.8	4.57	2.61	0.31194	.	0.466924	0.20210	U	0.096935	T	0.28632	0.0709	N	0.19112	0.55	0.26093	N	0.980921	B	0.18741	0.03	B	0.16289	0.015	T	0.15235	-1.0444	10	0.25751	T	0.34	.	8.2975	0.31995	0.0912:0.5122:0.3966:0.0	.	372	Q9H8Y1	VRTN_HUMAN	K	372	ENSP00000256362:E372K	ENSP00000256362:E372K	E	+	1	0	VRTN	73894353	0.998000	0.40836	0.046000	0.18839	0.036000	0.12997	0.645000	0.24782	0.470000	0.27294	0.561000	0.74099	GAG	VRTN	-	NULL		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	G	NM_018228		74824600	+1	no_errors	ENST00000256362	ensembl	human	known	70_37	missense	SNP	0.906	A
VSIG1	340547	genome.wustl.edu	37	X	107320497	107320497	+	Silent	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:107320497G>T	ENST00000217957.5	+	7	1167	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L	VSIG1_ENST00000415430.3_Silent_p.L386L	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	350						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AGCTGGAGCTGGAGCCAGAAA	0.572																																																	0													75.0	71.0	72.0					X																	107320497		2203	4300	6503	SO:0001819	synonymous_variant	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1050G>T	X.37:g.107320497G>T			C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L386	ENST00000217957.5	37	c.1158	CCDS14535.1	X																																																																																			VSIG1	-	NULL		0.572	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320497	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	silent	SNP	0.000	T
VTN	7448	genome.wustl.edu	37	17	26695897	26695897	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:26695897G>A	ENST00000226218.4	-	5	1440	c.822C>T	c.(820-822)ttC>ttT	p.F274F	CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	274					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAGTACCCTTGAAGAAGTAGA	0.592																																																	0													71.0	62.0	65.0					17																	26695897		2203	4300	6503	SO:0001819	synonymous_variant	7448			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.822C>T	17.37:g.26695897G>A			B2R7G0|P01141|Q9BSH7	Silent	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.F274	ENST00000226218.4	37	c.822	CCDS11229.1	17																																																																																			VTN	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	G	NM_000638		26695897	-1	no_errors	ENST00000226218	ensembl	human	known	70_37	silent	SNP	1.000	A
VWA3B	200403	genome.wustl.edu	37	2	98834374	98834374	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:98834374C>G	ENST00000477737.1	+	14	2106	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	634	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATCTCCTTCAATTACAATG	0.408																																																	0													110.0	101.0	104.0					2																	98834374		1834	4091	5925	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1902C>G	2.37:g.98834374C>G	ENSP00000417955:p.Phe634Leu		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.F634L	ENST00000477737.1	37	c.1902	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.611|9.611	1.131245|1.131245	0.21041|0.21041	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.19669|.	2.13|.	5.77|5.77	4.9|4.9	0.64082|0.64082	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.58264|0.58264	0.2110|0.2110	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.89917|.	1.0;0.901;0.905;1.0|.	D;P;P;D|.	0.85130|.	0.997;0.583;0.624;0.997|.	T|T	0.56288|0.56288	-0.8004|-0.8004	10|5	0.62326|.	D|.	0.03|.	.|.	8.9112|8.9112	0.35555|0.35555	0.0:0.8327:0.0:0.1673|0.0:0.8327:0.0:0.1673	.|.	26;634;634;634|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	L|E	634|45	ENSP00000417955:F634L|.	ENSP00000417955:F634L|.	F|Q	+|+	3|1	2|0	VWA3B|VWA3B	98200806|98200806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.494000|0.494000	0.33585|0.33585	1.818000|1.818000	0.39012|0.39012	1.449000|1.449000	0.47699|0.47699	-0.136000|-0.136000	0.14681|0.14681	TTC|CAA	VWA3B	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.408	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	C	NM_144992		98834374	+1	no_errors	ENST00000477737	ensembl	human	known	70_37	missense	SNP	1.000	G
VWA5B1	127731	genome.wustl.edu	37	1	20654436	20654436	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:20654436C>T	ENST00000375079.2	+	9	1393	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	VWA5B1_ENST00000289815.8_Silent_p.I399I|VWA5B1_ENST00000375083.4_Silent_p.I399I|VWA5B1_ENST00000289825.4_Silent_p.I116I	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	399	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TCTTCAATATCATTGGGTTTG	0.522																																																	0													82.0	73.0	76.0					1																	20654436		692	1591	2283	SO:0001819	synonymous_variant	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.1197C>T	1.37:g.20654436C>T			A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.I399	ENST00000375079.2	37	c.1197		1																																																																																			VWA5B1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	C	XM_001722222		20654436	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	silent	SNP	1.000	T
WDFY4	57705	genome.wustl.edu	37	10	49944021	49944021	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:49944021C>T	ENST00000325239.5	+	10	1811	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	WDFY4_ENST00000413659.2_Missense_Mutation_p.S595L|WDFY4_ENST00000360890.2_Missense_Mutation_p.S595L	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	595						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GAGCAGCTCTCAGCCATCAAC	0.542																																																	0													87.0	72.0	76.0					10																	49944021		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1784C>T	10.37:g.49944021C>T	ENSP00000320563:p.Ser595Leu		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S595L	ENST00000325239.5	37	c.1784	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413044	0.62511	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.51817	0.69;3.65;3.65	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.49253	0.1546	M	0.63428	1.95	0.43377	D	0.995474	P;P	0.38827	0.518;0.649	B;B	0.38428	0.079;0.273	T	0.47407	-0.9120	8	.	.	.	.	18.4706	0.90773	0.0:1.0:0.0:0.0	.	595;595	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	L	595;604;595;595;595	ENSP00000354141:S595L;ENSP00000320563:S595L;ENSP00000403789:S595L	.	S	+	2	0	WDFY4	49614027	0.998000	0.40836	0.837000	0.33122	0.830000	0.47004	5.506000	0.66993	2.668000	0.90789	0.655000	0.94253	TCA	WDFY4	-	superfamily_ARM-type_fold		0.542	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		49944021	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	0.994	T
WDR17	116966	genome.wustl.edu	37	4	177082071	177082071	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:177082071G>A	ENST00000280190.4	+	21	2896	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	WDR17_ENST00000393643.2_Missense_Mutation_p.E890K|WDR17_ENST00000508596.1_Missense_Mutation_p.E890K|WDR17_ENST00000507824.2_Missense_Mutation_p.E897K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	914										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCTGCTTGTGAAGGAAATAT	0.313																																																	0													102.0	99.0	100.0					4																	177082071		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2740G>A	4.37:g.177082071G>A	ENSP00000280190:p.Glu914Lys		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E914K	ENST00000280190.4	37	c.2740	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732878	0.89482	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60040	0.24;0.28;0.22	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.76002	2.32	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.991;0.991	T	0.79550	-0.1757	10	0.72032	D	0.01	-20.3879	17.8943	0.88881	0.0:0.0:1.0:0.0	.	890;890;914	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	K	890;890;914;897	ENSP00000422763:E890K;ENSP00000377258:E890K;ENSP00000280190:E914K	ENSP00000280190:E914K	E	+	1	0	WDR17	177319065	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.929000	0.75852	2.530000	0.85305	0.650000	0.86243	GAA	WDR17	-	NULL		0.313	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	G			177082071	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR3	10885	genome.wustl.edu	37	1	118483799	118483799	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:118483799G>C	ENST00000349139.5	+	8	889	c.842G>C	c.(841-843)aGa>aCa	p.R281T	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	281						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GGAAGAGACAGAGTTGTAAAC	0.443																																																	0													111.0	106.0	108.0					1																	118483799		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.842G>C	1.37:g.118483799G>C	ENSP00000308179:p.Arg281Thr			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R281T	ENST00000349139.5	37	c.842	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.155735	0.94686	.	.	ENSG00000065183	ENST00000349139	T	0.80653	-1.4	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88780	0.3270	10	0.48119	T	0.1	-21.4081	19.8424	0.96695	0.0:0.0:1.0:0.0	.	281	Q9UNX4	WDR3_HUMAN	T	281	ENSP00000308179:R281T	ENSP00000308179:R281T	R	+	2	0	WDR3	118285322	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.606000	0.90888	2.673000	0.90976	0.655000	0.94253	AGA	WDR3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.443	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118483799	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR45	11152	genome.wustl.edu	37	X	48932479	48932479	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:48932479C>T	ENST00000376372.3	-	11	1247	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	WDR45_ENST00000553851.1_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D357N|WDR45_ENST00000356463.3_Missense_Mutation_p.D357N|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.D342N|PRAF2_ENST00000376390.4_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_3'UTR|WDR45_ENST00000322995.8_Missense_Mutation_p.D367N|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.D321N	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	356					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TCATCATCATCACAGATGTCA	0.547																																																	0													85.0	79.0	81.0					X																	48932479		2203	4300	6503	SO:0001583	missense	11152			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.1066G>A	X.37:g.48932479C>T	ENSP00000365551:p.Asp356Asn		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.D367N	ENST00000376372.3	37	c.1099	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.149417	0.94645	.	.	ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85961	0.5819	M	0.67700	2.07	0.80722	D	1	D;D;D;P	0.55172	0.969;0.97;0.969;0.939	P;P;P;P	0.55087	0.768;0.46;0.662;0.632	D	0.87631	0.2516	10	0.66056	D	0.02	-10.9565	16.6575	0.85232	0.0:1.0:0.0:0.0	.	367;321;357;356	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;WIPI4_HUMAN	N	356;367;357;321;357;342	ENSP00000365551:D356N;ENSP00000365543:D367N;ENSP00000348848:D357N;ENSP00000419897:D321N;ENSP00000365546:D357N;ENSP00000379913:D342N	ENSP00000365543:D367N	D	-	1	0	WDR45	48819423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.067000	0.76741	2.392000	0.81423	0.600000	0.82982	GAT	WDR45	-	NULL		0.547	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	C	NM_007075		48932479	-1	no_errors	ENST00000322995	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP57	149465	genome.wustl.edu	37	1	43719755	43719755	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:43719755G>A	ENST00000372492.4	+	23	3970	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		1216										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGCCTCAGAGACCAGATCCA	0.547																																																	0																																										SO:0001583	missense	149465																														ENST00000372492.4:c.3646G>A	1.37:g.43719755G>A	ENSP00000361570:p.Asp1216Asn		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1216N	ENST00000372492.4	37	c.3646		1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930105	0.52759	.	.	ENSG00000243710	ENST00000372492	T	0.37235	1.21	5.21	5.21	0.72293	.	0.486768	0.18676	N	0.134286	T	0.42063	0.1186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07233	-1.0783	7	0.20519	T	0.43	-5.7873	15.5331	0.75980	0.0:0.0:1.0:0.0	.	.	.	.	N	1216	ENSP00000361570:D1216N	ENSP00000361570:D1216N	D	+	1	0	WDR65	43492342	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.468000	0.53086	2.445000	0.82738	0.558000	0.71614	GAC	WDR65	-	superfamily_Quinonprotein_ADH-like		0.547	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43719755	+1	no_errors	ENST00000372492	ensembl	human	novel	70_37	missense	SNP	1.000	A
WDR76	79968	genome.wustl.edu	37	15	44120326	44120326	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr15:44120326C>G	ENST00000263795.6	+	2	294	c.224C>G	c.(223-225)tCt>tGt	p.S75C	WDR76_ENST00000381246.2_Missense_Mutation_p.S11C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	75										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GAAAAGAATTCTAACAATGAA	0.383																																																	0													69.0	70.0	70.0					15																	44120326		2198	4298	6496	SO:0001583	missense	79968			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.224C>G	15.37:g.44120326C>G	ENSP00000263795:p.Ser75Cys		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S75C	ENST00000263795.6	37	c.224	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007345	0.35415	.	.	ENSG00000092470	ENST00000263795;ENST00000381246;ENST00000452115	D;D;T	0.87179	-2.22;-2.06;0.22	4.74	2.81	0.32909	.	0.734634	0.12433	N	0.469370	D	0.87641	0.6228	L	0.55990	1.75	0.30729	N	0.747414	D	0.63046	0.992	P	0.54499	0.754	T	0.82950	-0.0203	10	0.87932	D	0	-2.5734	6.5228	0.22285	0.0:0.7188:0.1827:0.0984	.	75	Q9H967	WDR76_HUMAN	C	75;11;11	ENSP00000263795:S75C;ENSP00000370645:S11C;ENSP00000404665:S11C	ENSP00000263795:S75C	S	+	2	0	WDR76	41907618	0.997000	0.39634	0.802000	0.32245	0.092000	0.18411	1.399000	0.34566	0.695000	0.31675	-0.253000	0.11424	TCT	WDR76	-	NULL		0.383	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	C	NM_024908		44120326	+1	no_errors	ENST00000263795	ensembl	human	known	70_37	missense	SNP	0.980	G
WDSUB1	151525	genome.wustl.edu	37	2	160139519	160139519	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:160139519G>C	ENST00000409990.3	-	2	318	c.62C>G	c.(61-63)tCc>tGc	p.S21C	WDSUB1_ENST00000392796.3_Missense_Mutation_p.S21C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S21C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S21C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S21C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	21							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GAGGGAAAAGGAGAAGGCACA	0.413																																																	0													115.0	110.0	112.0					2																	160139519		2203	4300	6503	SO:0001583	missense	151525			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.62C>G	2.37:g.160139519G>C	ENSP00000387078:p.Ser21Cys		Q53TI9|Q8N6N8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S21C	ENST00000409990.3	37	c.62	CCDS2208.1	2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905586	0.92107	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.82020	-0.0664	10	0.87932	D	0	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	21;21;21	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	C	21	ENSP00000352820:S21C;ENSP00000350866:S21C;ENSP00000376545:S21C;ENSP00000387078:S21C;ENSP00000386891:S21C	ENSP00000350866:S21C	S	-	2	0	WDSUB1	159847765	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	9.737000	0.98831	2.616000	0.88540	0.650000	0.86243	TCC	WDSUB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	HGNC	protein_coding	OTTHUMT00000333339.1	G	NM_152528		160139519	-1	no_errors	ENST00000359774	ensembl	human	known	70_37	missense	SNP	1.000	C
WNK2	65268	genome.wustl.edu	37	9	96009920	96009920	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:96009920C>G	ENST00000297954.4	+	7	1638	c.1638C>G	c.(1636-1638)atC>atG	p.I546M	WNK2_ENST00000395475.2_Missense_Mutation_p.I532M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.I158M|WNK2_ENST00000395477.2_Missense_Mutation_p.I546M|WNK2_ENST00000427277.2_Missense_Mutation_p.I158M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	546					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGAGAGGATCTGGCCCGCGC	0.642																																																	0													27.0	20.0	23.0					9																	96009920		2201	4300	6501	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1638C>G	9.37:g.96009920C>G	ENSP00000297954:p.Ile546Met		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I546M	ENST00000297954.4	37	c.1638		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.55|13.55|13.55	2.270528|2.270528|2.270528	0.40194|0.40194|0.40194	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730	T;T;T;T;T;T|.|.	0.70399|.|.	-0.48;-0.39;-0.37;-0.47;0.22;0.23|.|.	5.39|5.39|5.39	3.54|3.54|3.54	0.40534|0.40534|0.40534	.|.|.	0.115474|.|.	0.64402|.|.	D|.|.	0.000017|.|.	T|T|T	0.65026|0.65026|0.65026	0.2652|0.2652|0.2652	M|M|M	0.70595|0.70595|0.70595	2.14|2.14|2.14	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;P;P;P|.|.	0.46859|.|.	0.885;0.627;0.817;0.885;0.817|.|.	P;B;B;P;B|.|.	0.45610|.|.	0.487;0.216;0.444;0.487;0.292|.|.	T|T|T	0.64114|0.64114|0.64114	-0.6483|-0.6483|-0.6483	10|5|5	0.34782|.|.	T|.|.	0.22|.|.	.|.|.	9.668|9.668|9.668	0.39996|0.39996|0.39996	0.0:0.7346:0.0:0.2654|0.0:0.7346:0.0:0.2654|0.0:0.7346:0.0:0.2654	.|.|.	546;546;149;546;546|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	M|V|C	546;546;546;532;158;158|150|542	ENSP00000412465:I546M;ENSP00000297954:I546M;ENSP00000378860:I546M;ENSP00000378858:I532M;ENSP00000297876:I158M;ENSP00000411181:I158M|.|.	ENSP00000297954:I546M|.|.	I|L|S	+|+|+	3|1|2	3|2|0	WNK2|WNK2|WNK2	95049741|95049741|95049741	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.953000|0.953000|0.953000	0.61014|0.61014|0.61014	0.408000|0.408000|0.408000	0.21065|0.21065|0.21065	1.289000|1.289000|1.289000	0.44618|0.44618|0.44618	0.549000|0.549000|0.549000	0.68633|0.68633|0.68633	ATC|CTG|TCT	WNK2	-	NULL		0.642	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	C	NM_006648		96009920	+1	no_errors	ENST00000297954	ensembl	human	known	70_37	missense	SNP	0.997	G
WNT7B	7477	genome.wustl.edu	37	22	46319212	46319212	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:46319212G>C	ENST00000339464.4	-	4	948	c.574C>G	c.(574-576)Cta>Gta	p.L192V	WNT7B_ENST00000409496.3_Missense_Mutation_p.L196V|WNT7B_ENST00000410089.1_Missense_Mutation_p.L176V	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	192					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCTCTAGAACCTGCGGG	0.662																																																	0													33.0	30.0	31.0					22																	46319212		2203	4299	6502	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.574C>G	22.37:g.46319212G>C	ENSP00000341032:p.Leu192Val		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.L192V	ENST00000339464.4	37	c.574	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	G	0.235	-1.018055	0.02078	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496	T;T;T	0.71341	-0.56;-0.56;-0.56	3.33	3.33	0.38152	.	0.000000	0.64402	U	0.000012	T	0.46190	0.1380	N	0.04043	-0.29	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.28849	0.095;0.057	T	0.44467	-0.9326	10	0.02654	T	1	.	13.991	0.64367	0.0:0.0:1.0:0.0	.	196;192	A8K0G1;P56706	.;WNT7B_HUMAN	V	192;176;196	ENSP00000341032:L192V;ENSP00000386781:L176V;ENSP00000386546:L196V	ENSP00000341032:L192V	L	-	1	2	WNT7B	44697876	1.000000	0.71417	0.999000	0.59377	0.204000	0.24138	5.338000	0.65947	1.579000	0.49836	0.305000	0.20034	CTA	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7		0.662	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	G	NM_058238		46319212	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	C
XCR1	2829	genome.wustl.edu	37	3	46063162	46063162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:46063162C>T	ENST00000309285.3	-	2	634	c.278G>A	c.(277-279)tGg>tAg	p.W93*	XCR1_ENST00000542109.1_Nonsense_Mutation_p.W93*	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	93					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACCCAGCCCCAGTGGTATGG	0.542																																																	0													93.0	100.0	98.0					3																	46063162		2203	4300	6503	SO:0001587	stop_gained	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.278G>A	3.37:g.46063162C>T	ENSP00000310405:p.Trp93*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.W93*	ENST00000309285.3	37	c.278	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549534	0.65311	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	.	.	.	5.14	0.434	0.16539	.	1.213010	0.05403	N	0.541074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	1.2285	0.01938	0.4979:0.1915:0.1476:0.163	.	.	.	.	X	93	.	ENSP00000310405:W93X	W	-	2	0	XCR1	46038166	0.000000	0.05858	0.993000	0.49108	0.870000	0.49936	-1.252000	0.02880	0.481000	0.27557	0.650000	0.86243	TGG	XCR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063162	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	nonsense	SNP	0.000	T
XCR1	2829	genome.wustl.edu	37	3	46063418	46063418	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:46063418C>G	ENST00000309285.3	-	2	378	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	XCR1_ENST00000542109.1_Missense_Mutation_p.E8Q	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	8					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGTGCTCTCTGGGTTGCCT	0.527																																																	0													57.0	61.0	60.0					3																	46063418		2203	4300	6503	SO:0001583	missense	2829				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.22G>C	3.37:g.46063418C>G	ENSP00000310405:p.Glu8Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.E8Q	ENST00000309285.3	37	c.22	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642576	0.47153	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.68025	-0.3;-0.3	4.25	1.05	0.20165	.	2.443350	0.01375	N	0.012709	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P	0.38978	0.652	B	0.35813	0.211	T	0.52238	-0.8602	10	0.15499	T	0.54	.	1.8736	0.03214	0.2089:0.468:0.2026:0.1204	.	8	P46094	XCR1_HUMAN	Q	8	ENSP00000310405:E8Q;ENSP00000438119:E8Q	ENSP00000310405:E8Q	E	-	1	0	XCR1	46038422	0.000000	0.05858	0.048000	0.18961	0.009000	0.06853	0.006000	0.13152	1.928000	0.55862	0.650000	0.86243	GAG	XCR1	-	NULL		0.527	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	C			46063418	-1	no_errors	ENST00000309285	ensembl	human	known	70_37	missense	SNP	0.000	G
TSIX	9383	genome.wustl.edu	37	X	73043579	73043579	+	lincRNA	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:73043579C>A	ENST00000604411.1	+	0	31540				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TCTCTCTACTCAGCTTAGTAC	0.388																																																	0													176.0	170.0	172.0					X																	73043579		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043579C>A				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.388	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73043579	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
XPO4	64328	genome.wustl.edu	37	13	21395946	21395946	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr13:21395946C>T	ENST00000255305.6	-	9	1141	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	XPO4_ENST00000400602.2_Missense_Mutation_p.R357Q			Q9C0E2	XPO4_HUMAN	exportin 4	357					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAAACATTTCGTGGGAACAC	0.408																																																	0													117.0	115.0	115.0					13																	21395946		1933	4142	6075	SO:0001583	missense	64328			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1070G>A	13.37:g.21395946C>T	ENSP00000255305:p.Arg357Gln		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R357Q	ENST00000255305.6	37	c.1070	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650828	0.67472	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.22743	1.94;1.94	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.46758	0.526	T	0.00701	-1.1603	10	0.46703	T	0.11	-1.6813	19.5961	0.95538	0.0:1.0:0.0:0.0	.	357	Q9C0E2	XPO4_HUMAN	Q	357;227;357	ENSP00000383444:R357Q;ENSP00000255305:R357Q	ENSP00000255305:R357Q	R	-	2	0	XPO4	20293946	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	7.443000	0.80521	2.630000	0.89119	0.563000	0.77884	CGA	XPO4	-	superfamily_ARM-type_fold		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	C	NM_022459		21395946	-1	no_errors	ENST00000255305	ensembl	human	known	70_37	missense	SNP	1.000	T
XRCC1	7515	genome.wustl.edu	37	19	44056964	44056964	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:44056964G>A	ENST00000262887.5	-	8	1355	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.P239S			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	270					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTGGGAACAGATGGC	0.547								Other BER factors																																									0													140.0	143.0	142.0					19																	44056964		2203	4300	6503	SO:0001583	missense	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.808C>T	19.37:g.44056964G>A	ENSP00000262887:p.Pro270Ser		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P270S	ENST00000262887.5	37	c.808	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.341626	0.00222	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02631	4.25;4.22	4.82	-1.44	0.08856	.	1.450410	0.03847	N	0.271679	T	0.01124	0.0037	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43540	-0.9385	10	0.07990	T	0.79	-0.998	3.0544	0.06180	0.0837:0.2806:0.3476:0.2881	.	239;270	F5H8D7;P18887	.;XRCC1_HUMAN	S	284;270;239;270	ENSP00000262887:P270S;ENSP00000443671:P239S	ENSP00000262887:P270S	P	-	1	0	XRCC1	48748804	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.348000	0.20031	-0.171000	0.10797	-2.070000	0.00385	CCC	XRCC1	-	NULL		0.547	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	G	NM_006297		44056964	-1	no_errors	ENST00000262887	ensembl	human	known	70_37	missense	SNP	0.000	A
YWHAQ	10971	genome.wustl.edu	37	2	9728405	9728405	+	Missense_Mutation	SNP	C	C	G	rs201487177		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:9728405C>G	ENST00000381844.4	-	3	634	c.471G>C	c.(469-471)aaG>aaC	p.K157N	YWHAQ_ENST00000238081.3_Missense_Mutation_p.K157N|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	157					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCATCTCTTTCTTGCTTATAT	0.403																																																	0													120.0	114.0	116.0					2																	9728405		2203	4300	6503	SO:0001583	missense	10971			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.471G>C	2.37:g.9728405C>G	ENSP00000371267:p.Lys157Asn		D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K157N	ENST00000381844.4	37	c.471	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443659	0.63067	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.44083	0.93;0.93	5.56	5.56	0.83823	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.58969	1.84	0.46317	D	0.998986	B	0.13145	0.007	B	0.24848	0.056	T	0.17684	-1.0361	10	0.33141	T	0.24	.	13.2044	0.59787	0.0:0.927:0.0:0.073	.	157	P27348	1433T_HUMAN	N	157;157;122	ENSP00000238081:K157N;ENSP00000371267:K157N	ENSP00000238081:K157N	K	-	3	2	YWHAQ	9645856	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.219000	0.51200	2.789000	0.95967	0.558000	0.71614	AAG	YWHAQ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.403	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	C	NM_006826		9728405	-1	no_errors	ENST00000238081	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBED4	9889	genome.wustl.edu	37	22	50279300	50279300	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr22:50279300G>A	ENST00000216268.5	+	2	2467	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	664						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCATAGCTGAAATGATTGC	0.458																																																	0													79.0	83.0	81.0					22																	50279300		2203	4300	6503	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1990G>A	22.37:g.50279300G>A	ENSP00000216268:p.Glu664Lys		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E664K	ENST00000216268.5	37	c.1990	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912804	0.92178	.	.	ENSG00000100426	ENST00000216268	T	0.41758	0.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67772	-0.5584	10	0.33940	T	0.23	-26.4673	19.0818	0.93186	0.0:0.0:1.0:0.0	.	664	O75132	ZBED4_HUMAN	K	664	ENSP00000216268:E664K	ENSP00000216268:E664K	E	+	1	0	ZBED4	48665304	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	9.312000	0.96287	2.492000	0.84095	0.655000	0.94253	GAA	ZBED4	-	NULL		0.458	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	G	NM_014838		50279300	+1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB7B	51043	genome.wustl.edu	37	1	154987929	154987929	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:154987929G>A	ENST00000368426.3	+	3	930	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E265K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E265K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E299K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	265					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCCTCCTGAGGGTCCCCA	0.667																																																	0													28.0	28.0	28.0					1																	154987929		2202	4300	6502	SO:0001583	missense	51043			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.793G>A	1.37:g.154987929G>A	ENSP00000357411:p.Glu265Lys		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E299K	ENST00000368426.3	37	c.895	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012021	0.35511	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.08546	3.11;3.11;3.08;3.11	4.3	4.3	0.51218	.	0.437583	0.21154	N	0.079275	T	0.01905	0.0060	N	0.24115	0.695	0.31931	N	0.612223	B;B;B	0.34015	0.435;0.435;0.435	B;B;B	0.30105	0.111;0.111;0.111	T	0.37361	-0.9709	10	0.09338	T	0.73	.	14.2965	0.66316	0.0:0.0:1.0:0.0	.	265;265;299	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	265;265;299;265	ENSP00000438647:E265K;ENSP00000357411:E265K;ENSP00000406286:E299K;ENSP00000292176:E265K	ENSP00000292176:E265K	E	+	1	0	ZBTB7B	153254553	0.988000	0.35896	0.924000	0.36721	0.498000	0.33706	2.146000	0.42216	2.229000	0.72834	0.462000	0.41574	GAG	ZBTB7B	-	NULL		0.667	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	G	NM_015872		154987929	+1	no_errors	ENST00000417934	ensembl	human	known	70_37	missense	SNP	0.968	A
ZC3H12C	85463	genome.wustl.edu	37	11	110008101	110008101	+	Silent	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr11:110008101G>C	ENST00000278590.3	+	2	786	c.735G>C	c.(733-735)ctG>ctC	p.L245L	ZC3H12C_ENST00000528673.1_Silent_p.L246L|ZC3H12C_ENST00000453089.2_Silent_p.L214L	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	245							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGAAAATCTGAGACCAATAG	0.353																																																	0													58.0	55.0	56.0					11																	110008101		1877	4114	5991	SO:0001819	synonymous_variant	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.735G>C	11.37:g.110008101G>C			B4DI65|B4DR47	Silent	SNP	pfam_RNase_Zc3h12	p.L245	ENST00000278590.3	37	c.735	CCDS44727.1	11																																																																																			ZC3H12C	-	pfam_RNase_Zc3h12		0.353	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110008101	+1	no_errors	ENST00000278590	ensembl	human	known	70_37	silent	SNP	0.990	C
ZC3H7A	29066	genome.wustl.edu	37	16	11859530	11859530	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:11859530C>G	ENST00000396516.2	-	13	1731	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E512Q			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	512						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATTCCTCCTCAGCAGCAACA	0.517																																																	0													89.0	76.0	81.0					16																	11859530		2197	4300	6497	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1534G>C	16.37:g.11859530C>G	ENSP00000379773:p.Glu512Gln		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E512Q	ENST00000396516.2	37	c.1534	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966767	0.53507	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09723	2.95;2.95	5.81	4.85	0.62838	.	0.153366	0.64402	D	0.000013	T	0.10723	0.0262	L	0.36672	1.1	0.80722	D	1	B;B	0.33345	0.409;0.286	B;B	0.33960	0.173;0.12	T	0.15065	-1.0450	10	0.21540	T	0.41	.	16.1239	0.81380	0.0:0.8664:0.1336:0.0	.	233;512	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Q	512	ENSP00000347999:E512Q;ENSP00000379773:E512Q	ENSP00000347999:E512Q	E	-	1	0	ZC3H7A	11767031	1.000000	0.71417	0.951000	0.38953	0.996000	0.88848	7.818000	0.86416	1.441000	0.47550	0.655000	0.94253	GAG	ZC3H7A	-	NULL		0.517	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	C	NM_014153		11859530	-1	no_errors	ENST00000355758	ensembl	human	known	70_37	missense	SNP	0.999	G
ZCCHC16	340595	genome.wustl.edu	37	X	111698092	111698092	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:111698092G>T	ENST00000340433.2	+	1	366	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	46							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCATGCCTGCCCTGGCCAC	0.527																																																	0													122.0	89.0	100.0					X																	111698092		2203	4300	6503	SO:0001583	missense	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.136G>T	X.37:g.111698092G>T	ENSP00000340590:p.Ala46Ser		B2RPG1	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.A46S	ENST00000340433.2	37	c.136	CCDS35369.1	X	.	.	.	.	.	.	.	.	.	.	G	0.577	-0.838710	0.02692	.	.	ENSG00000187823	ENST00000340433	T	0.40476	1.03	4.04	-4.1	0.03940	.	0.894547	0.09178	N	0.837809	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.19391	0.025	T	0.23511	-1.0186	10	0.15952	T	0.53	0.765	1.6487	0.02767	0.2697:0.3361:0.2683:0.1258	.	46	Q6ZR62	ZCH16_HUMAN	S	46	ENSP00000340590:A46S	ENSP00000340590:A46S	A	+	1	0	ZCCHC16	111584748	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.249000	0.08842	-1.216000	0.02607	0.600000	0.82982	GCC	ZCCHC16	-	NULL		0.527	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	G	NM_001004308		111698092	+1	no_errors	ENST00000340433	ensembl	human	known	70_37	missense	SNP	0.000	T
ZCCHC17	51538	genome.wustl.edu	37	1	31821808	31821808	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:31821808G>C	ENST00000373714.1	+	7	812	c.551G>C	c.(550-552)aGa>aCa	p.R184T	RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R186T|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R184T|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R176T	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	184						cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AATCCTTCTAGAAAAAGAAAG	0.393																																																	0													77.0	78.0	77.0					1																	31821808		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.551G>C	1.37:g.31821808G>C	ENSP00000362819:p.Arg184Thr		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R186T	ENST00000373714.1	37	c.557	CCDS341.1	1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408054	0.42715	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.34	5.34	0.76211	.	0.134533	0.64402	D	0.000002	T	0.58836	0.2150	L	0.44542	1.39	0.26842	N	0.968358	P;D;P	0.57899	0.817;0.981;0.909	B;D;P	0.67231	0.217;0.95;0.587	T	0.51060	-0.8753	9	0.38643	T	0.18	.	14.731	0.69383	0.0:0.0:1.0:0.0	.	186;176;184	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	T	184;184;176;186	.	ENSP00000343557:R184T	R	+	2	0	ZCCHC17	31594395	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.758000	0.47565	2.937000	0.99478	0.650000	0.86243	AGA	ZCCHC17	-	NULL		0.393	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC17	HGNC	protein_coding	OTTHUMT00000010665.1	G	NM_016505		31821808	+1	no_errors	ENST00000422613	ensembl	human	known	70_37	missense	SNP	1.000	C
ZCWPW1	55063	genome.wustl.edu	37	7	100001352	100001352	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100001352C>T	ENST00000398027.2	-	15	1622	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E339K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E339K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E460K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	459							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					aactcttcctctttctccttt	0.398																																																	0													93.0	90.0	91.0					7																	100001352		1818	4084	5902	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1375G>A	7.37:g.100001352C>T	ENSP00000381109:p.Glu459Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E459K	ENST00000398027.2	37	c.1375	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.890|4.890	0.165422|0.165422	0.09339|0.09339	.|.	.|.	ENSG00000078487|ENSG00000233389	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336|ENST00000449355	T;T;T;T;T|.	0.60797|.	0.89;0.95;0.76;0.95;0.16|.	4.46|4.46	1.6|1.6	0.23607|0.23607	.|.	1.133510|.	0.06661|.	N|.	0.764508|.	T|T	0.34483|0.34483	0.0899|0.0899	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	P;B;B;B|.	0.43750|.	0.816;0.024;0.024;0.019|.	B;B;B;B|.	0.34590|.	0.186;0.005;0.005;0.011|.	T|T	0.23404|0.23404	-1.0189|-1.0189	9|5	.|.	.|.	.|.	1.7955|1.7955	6.11|6.11	0.20096|0.20096	0.0:0.6761:0.0:0.3239|0.0:0.6761:0.0:0.3239	.|.	460;420;459;339|.	B4DUQ2;B4DXS7;Q9H0M4;Q9H0M4-4|.	.;.;ZCPW1_HUMAN;.|.	K|F	459;339;460;339;182|140	ENSP00000381109:E459K;ENSP00000419187:E339K;ENSP00000354210:E460K;ENSP00000314880:E339K;ENSP00000418351:E182K|.	.|.	E|L	-|+	1|1	0|0	ZCWPW1|AC005071.3	99839288|99839288	0.011000|0.011000	0.17503|0.17503	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	0.852000|0.852000	0.27764|0.27764	0.585000|0.585000	0.29608|0.29608	0.655000|0.655000	0.94253|0.94253	GAG|CTT	ZCWPW1	-	NULL		0.398	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100001352	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.000	T
ZCWPW1	55063	genome.wustl.edu	37	7	100001358	100001358	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100001358C>T	ENST00000398027.2	-	15	1616	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E337K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E337K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E458K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	457							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					tcctctttctcctttttctCT	0.378																																																	0													89.0	85.0	86.0					7																	100001358		1815	4084	5899	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1369G>A	7.37:g.100001358C>T	ENSP00000381109:p.Glu457Lys		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.E457K	ENST00000398027.2	37	c.1369	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.030|6.030	0.373860|0.373860	0.11409|0.11409	.|.	.|.	ENSG00000078487|ENSG00000233389	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336|ENST00000449355	T;T;T;T;T|.	0.61158|.	0.83;0.89;0.65;0.89;0.13|.	4.69|4.69	1.92|1.92	0.25849|0.25849	.|.	1.286640|.	0.05149|.	N|.	0.495662|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.17852|.	0.005;0.024;0.024;0.008|.	B;B;B;B|.	0.12156|.	0.007;0.005;0.005;0.007|.	T|T	0.26292|0.26292	-1.0107|-1.0107	9|5	.|.	.|.	.|.	0.8622|0.8622	6.6275|6.6275	0.22839|0.22839	0.0:0.7082:0.0:0.2918|0.0:0.7082:0.0:0.2918	.|.	458;418;457;337|.	B4DUQ2;B4DXS7;Q9H0M4;Q9H0M4-4|.	.;.;ZCPW1_HUMAN;.|.	K|S	457;337;458;337;180|142	ENSP00000381109:E457K;ENSP00000419187:E337K;ENSP00000354210:E458K;ENSP00000314880:E337K;ENSP00000418351:E180K|.	.|.	E|P	-|+	1|1	0|0	ZCWPW1|AC005071.3	99839294|99839294	0.853000|0.853000	0.29707|0.29707	0.003000|0.003000	0.11579|0.11579	0.025000|0.025000	0.11179|0.11179	0.897000|0.897000	0.28390|0.28390	0.304000|0.304000	0.22809|0.22809	0.655000|0.655000	0.94253|0.94253	GAG|CCT	ZCWPW1	-	NULL		0.378	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100001358	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.003	T
ZCWPW1	55063	genome.wustl.edu	37	7	100002656	100002656	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:100002656C>T	ENST00000398027.2	-	13	1478	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A291T|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A291T|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.A412T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	411							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCTGTTCTGCCTCTTGAGCC	0.468																																																	0													171.0	170.0	171.0					7																	100002656		1957	4129	6086	SO:0001583	missense	55063			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1231G>A	7.37:g.100002656C>T	ENSP00000381109:p.Ala411Thr		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.A411T	ENST00000398027.2	37	c.1231	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393207	0.83011	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000068	T	0.80939	0.4720	L	0.57536	1.79	0.42433	D	0.992687	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.80204	-0.1479	9	.	.	.	-14.5044	14.7245	0.69332	0.0:1.0:0.0:0.0	.	412;372;414;411;291	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	T	411;291;412;291;414	ENSP00000381109:A411T;ENSP00000419187:A291T;ENSP00000354210:A412T;ENSP00000314880:A291T	.	A	-	1	0	ZCWPW1	99840592	0.993000	0.37304	0.956000	0.39512	0.760000	0.43138	3.939000	0.56591	2.539000	0.85634	0.306000	0.20318	GCA	ZCWPW1	-	NULL		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	C	NM_017984		100002656	-1	no_errors	ENST00000398027	ensembl	human	known	70_37	missense	SNP	0.981	T
ZDHHC15	158866	genome.wustl.edu	37	X	74725672	74725672	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:74725672C>T	ENST00000373367.3	-	2	377	c.147G>A	c.(145-147)ttG>ttA	p.L49L	ZDHHC15_ENST00000373361.3_Silent_p.L49L|ZDHHC15_ENST00000541184.1_Intron|ZDHHC15_ENST00000482827.1_Intron	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	49					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTGCTGGGCTCAAAACAGTCA	0.373																																																	0													74.0	71.0	72.0					X																	74725672		2203	4299	6502	SO:0001819	synonymous_variant	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.147G>A	X.37:g.74725672C>T			B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.L49	ENST00000373367.3	37	c.147	CCDS14430.1	X																																																																																			ZDHHC15	-	NULL		0.373	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	C	NM_144969		74725672	-1	no_errors	ENST00000373367	ensembl	human	known	70_37	silent	SNP	1.000	T
ZDHHC23	254887	genome.wustl.edu	37	3	113678541	113678541	+	Intron	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:113678541C>G	ENST00000330212.3	+	6	1515				ZDHHC23_ENST00000488129.1_3'UTR|ZDHHC23_ENST00000498275.1_Intron	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AATCAGCCTTCTGGCATTCAC	0.378																																																	0																																										SO:0001627	intron_variant	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.1217-1026C>G	3.37:g.113678541C>G			D3DN76	RNA	SNP	-	NULL	ENST00000330212.3	37	NULL	CCDS33827.1	3																																																																																			ZDHHC23	-	-		0.378	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	C	NM_173570		113678541	+1	no_errors	ENST00000488129	ensembl	human	putative	70_37	rna	SNP	0.008	G
ZDHHC6	64429	genome.wustl.edu	37	10	114194092	114194092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:114194092C>T	ENST00000369405.3	-	7	1289	c.866G>A	c.(865-867)tGg>tAg	p.W289*	ZDHHC6_ENST00000482410.1_5'Flank|ZDHHC6_ENST00000369404.3_Nonsense_Mutation_p.W285*	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	289					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCTTACTGGCCACTCAAGTCC	0.438																																																	0													110.0	98.0	102.0					10																	114194092		2203	4300	6503	SO:0001587	stop_gained	64429			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.866G>A	10.37:g.114194092C>T	ENSP00000358413:p.Trp289*		D3DRB6|Q53G45|Q96IV7|Q9H605	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.W289*	ENST00000369405.3	37	c.866	CCDS7574.1	10	.	.	.	.	.	.	.	.	.	.	C	42	9.303210	0.99130	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9975	20.1787	0.98192	0.0:1.0:0.0:0.0	.	.	.	.	X	289;285	.	ENSP00000358412:W285X	W	-	2	0	ZDHHC6	114184082	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.687000	0.84139	2.846000	0.97976	0.650000	0.86243	TGG	ZDHHC6	-	NULL		0.438	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1	C	NM_022494		114194092	-1	no_errors	ENST00000369405	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZDHHC9	51114	genome.wustl.edu	37	X	128947660	128947660	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:128947660G>A	ENST00000357166.6	-	7	1058	c.667C>T	c.(667-669)Cct>Tct	p.P223S	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P223S	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	223					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TATGTTCCAGGAGTTTCTTTC	0.408																																																	0													92.0	84.0	87.0					X																	128947660		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.667C>T	X.37:g.128947660G>A	ENSP00000349689:p.Pro223Ser		B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P223S	ENST00000357166.6	37	c.667	CCDS35395.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.108596	0.94292	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.22945	1.93;1.93	5.95	5.95	0.96441	.	0.158037	0.64402	D	0.000017	T	0.55529	0.1926	M	0.83774	2.66	0.80722	D	1	P	0.49559	0.925	P	0.62649	0.905	T	0.57705	-0.7765	10	0.59425	D	0.04	-7.1653	18.9916	0.92794	0.0:0.0:1.0:0.0	.	223	Q9Y397	ZDHC9_HUMAN	S	223	ENSP00000349689:P223S;ENSP00000360103:P223S	ENSP00000349689:P223S	P	-	1	0	ZDHHC9	128775341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.454000	0.97621	2.533000	0.85409	0.596000	0.82720	CCT	ZDHHC9	-	NULL		0.408	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC9	HGNC	protein_coding	OTTHUMT00000058213.1	G	NM_016032		128947660	-1	no_errors	ENST00000357166	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFP36L2	678	genome.wustl.edu	37	2	43452399	43452399	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:43452399C>T	ENST00000282388.3	-	2	837	c.544G>A	c.(544-546)Gag>Aag	p.E182K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	182	RNA-binding.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGCGCAGCTCGTGGAAGCCA	0.617																																																	0													47.0	44.0	45.0					2																	43452399		2203	4300	6503	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.544G>A	2.37:g.43452399C>T	ENSP00000282388:p.Glu182Lys		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.E182K	ENST00000282388.3	37	c.544	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320806	0.81469	.	.	ENSG00000152518	ENST00000282388	T	0.61274	0.12	4.44	3.56	0.40772	.	0.140956	0.45606	N	0.000342	T	0.55016	0.1894	M	0.87038	2.855	0.80722	D	1	P	0.42871	0.792	B	0.27500	0.08	T	0.64162	-0.6472	10	0.87932	D	0	-21.1341	11.3501	0.49583	0.0:0.9085:0.0:0.0915	.	182	P47974	TISD_HUMAN	K	182	ENSP00000282388:E182K	ENSP00000282388:E182K	E	-	1	0	ZFP36L2	43305903	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.321000	0.79088	0.865000	0.35603	-0.266000	0.10368	GAG	ZFP36L2	-	NULL		0.617	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452399	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFX	7543	genome.wustl.edu	37	X	24229099	24229099	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chrX:24229099C>T	ENST00000379177.1	+	11	2451	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	ZFX_ENST00000539115.1_Missense_Mutation_p.S446L|ZFX_ENST00000379188.3_Missense_Mutation_p.S675L|ZFX_ENST00000304543.5_Missense_Mutation_p.S675L|ZFX_ENST00000540034.1_Missense_Mutation_p.S714L|ZFX_ENST00000338565.3_Missense_Mutation_p.S625L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	675					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGGCCTTCAGAACTCAAG	0.423																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													114.0	103.0	107.0					X																	24229099		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2024C>T	X.37:g.24229099C>T	ENSP00000368475:p.Ser675Leu		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S714L	ENST00000379177.1	37	c.2141	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794849	0.70452	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000033	T	0.41073	0.1143	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.89917	0.995;1.0;0.985	D;D;D	0.91635	0.992;0.999;0.979	T	0.36335	-0.9752	10	0.87932	D	0	-15.1166	17.2852	0.87139	0.0:1.0:0.0:0.0	.	714;397;675	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	L	446;675;397;675;675;714;625	ENSP00000438233:S446L;ENSP00000368486:S675L;ENSP00000368475:S675L;ENSP00000304985:S675L;ENSP00000441382:S714L;ENSP00000343384:S625L	ENSP00000304985:S675L	S	+	2	0	ZFX	24139020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.091000	0.63221	0.594000	0.82650	TCA	ZFX	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	C	NM_003410		24229099	+1	no_errors	ENST00000540034	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFYVE16	9765	genome.wustl.edu	37	5	79770494	79770494	+	Missense_Mutation	SNP	C	C	G	rs370781380		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:79770494C>G	ENST00000338008.5	+	17	4486	c.4306C>G	c.(4306-4308)Cta>Gta	p.L1436V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1436V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1436V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1436					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)		GTTCTACTTTCTAAAGGACCA	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)												0													76.0	80.0	79.0					5																	79770494		2203	4300	6503	SO:0001583	missense	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.4306C>G	5.37:g.79770494C>G	ENSP00000337159:p.Leu1436Val		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.L1436V	ENST00000338008.5	37	c.4306	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238093	0.58886	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.39787	1.06;1.06;1.06	5.48	4.6	0.57074	Domain of unknown function DUF3480 (1);	0.305968	0.23612	N	0.046322	T	0.55529	0.1926	M	0.65975	2.015	0.46222	D	0.998937	P;D	0.56521	0.589;0.976	B;P	0.62885	0.309;0.908	T	0.57323	-0.7831	10	0.59425	D	0.04	-0.373	7.1887	0.25814	0.0:0.708:0.1463:0.1457	.	246;1436	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	V	1436	ENSP00000337159:L1436V;ENSP00000423663:L1436V;ENSP00000426848:L1436V	ENSP00000337159:L1436V	L	+	1	2	ZFYVE16	79806250	0.858000	0.29795	0.999000	0.59377	0.977000	0.68977	1.366000	0.34193	1.420000	0.47138	-0.176000	0.13171	CTA	ZFYVE16	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	C	NM_014733		79770494	+1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFYVE20	64145	genome.wustl.edu	37	3	15116161	15116161	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:15116161C>T	ENST00000253699.3	-	14	2096	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E495K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	495	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGGTCATACTCGTCCTGCAGC	0.612																																																	0													81.0	79.0	80.0					3																	15116161		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1483G>A	3.37:g.15116161C>T	ENSP00000253699:p.Glu495Lys		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E495K	ENST00000253699.3	37	c.1483	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.741757	0.96873	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.51071	0.72;0.72	5.89	5.89	0.94794	.	0.048041	0.85682	D	0.000000	T	0.64746	0.2626	M	0.77313	2.365	0.80722	D	1	D	0.67145	0.996	P	0.52481	0.7	T	0.68334	-0.5436	10	0.72032	D	0.01	-20.0693	20.2566	0.98424	0.0:1.0:0.0:0.0	.	495	Q9H1K0	RBNS5_HUMAN	K	495	ENSP00000253699:E495K;ENSP00000422551:E495K	ENSP00000253699:E495K	E	-	1	0	ZFYVE20	15091165	1.000000	0.71417	0.964000	0.40570	0.834000	0.47266	7.482000	0.81143	2.793000	0.96121	0.561000	0.74099	GAG	ZFYVE20	-	pfam_Rbsn		0.612	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	C	NM_022340		15116161	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	1.000	T
ZKSCAN2	342357	genome.wustl.edu	37	16	25251138	25251138	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:25251138C>G	ENST00000328086.7	-	7	3706	c.2903G>C	c.(2902-2904)tGa>tCa	p.*968S	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGATCATCATCAAAAAGTTTT	0.398																																																	0													94.0	89.0	91.0					16																	25251138		2197	4300	6497	SO:0001578	stop_lost	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2903G>C	16.37:g.25251138C>G			A1L3B4|Q6ZN77	Nonstop_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.*968S	ENST00000328086.7	37	c.2903	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280716	0.40294	.	.	ENSG00000155592	ENST00000328086	.	.	.	5.82	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1875	0.03891	0.1595:0.5181:0.1543:0.1681	.	.	.	.	S	968	.	.	X	-	2	2	ZKSCAN2	25158639	0.000000	0.05858	0.672000	0.29872	0.990000	0.78478	-0.071000	0.11505	0.382000	0.24878	0.563000	0.77884	TGA	ZKSCAN2	-	NULL		0.398	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25251138	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	nonstop	SNP	0.037	G
ZKSCAN2	342357	genome.wustl.edu	37	16	25251184	25251184	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:25251184C>G	ENST00000328086.7	-	7	3660	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423																																																	0													128.0	120.0	123.0					16																	25251184		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2857G>C	16.37:g.25251184C>G	ENSP00000331626:p.Glu953Gln		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.E953Q	ENST00000328086.7	37	c.2857	CCDS32410.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.067678|4.067678	0.76301|0.76301	.|.	.|.	ENSG00000155592|ENSG00000155592	ENST00000328086|ENST00000536768	T|.	0.07444|.	3.19|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|.	0.48995|.	0.1531|.	L|L	0.36672|0.36672	1.1|1.1	0.35495|0.35495	D|D	0.799292|0.799292	P;D|.	0.69078|.	0.937;0.997|.	P;P|.	0.61592|.	0.654;0.891|.	T|.	0.55016|.	-0.8206|.	10|.	0.12103|.	T|.	0.63|.	-25.978|-25.978	9.7908|9.7908	0.40704|0.40704	0.0:0.9095:0.0:0.0905|0.0:0.9095:0.0:0.0905	.|.	749;953|.	B4DYF0;Q63HK3|.	.;ZKSC2_HUMAN|.	Q|S	953|837	ENSP00000331626:E953Q|.	ENSP00000331626:E953Q|.	E|X	-|-	1|2	0|2	ZKSCAN2|ZKSCAN2	25158685|25158685	0.046000|0.046000	0.20272|0.20272	0.556000|0.556000	0.28293|0.28293	0.889000|0.889000	0.51656|0.51656	1.770000|1.770000	0.38532|0.38532	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GAG|TGA	ZKSCAN2	-	NULL		0.423	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25251184	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.949	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99129642	99129642	+	Nonsense_Mutation	SNP	C	C	T	rs200698568		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:99129642C>T	ENST00000394170.2	+	7	2541	c.2290C>T	c.(2290-2292)Caa>Taa	p.Q764*	ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.Q764*|ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.Q764*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	764					regulation of transcription, DNA-templated (GO:0006355)|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(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CAAACAACATCAAAAAATCTA	0.408																																																	0													86.0	85.0	86.0					7																	99129642		2203	4300	6503	SO:0001587	stop_gained	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2290C>T	7.37:g.99129642C>T	ENSP00000377725:p.Gln764*		A4D280|D6W5S9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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.Q764*	ENST00000394170.2	37	c.2290	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.063062	0.93898	.	.	ENSG00000196652	ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	4.93	4.93	0.64822	.	0.298226	0.24776	N	0.035689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	16.0472	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	X	764	.	ENSP00000322872:Q764X	Q	+	1	0	ZKSCAN5	98967578	0.000000	0.05858	0.167000	0.22817	0.320000	0.28249	0.109000	0.15417	2.730000	0.93505	0.655000	0.94253	CAA	ZKSCAN5	-	pfscan_Znf_C2H2		0.408	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	C	NM_014569		99129642	+1	no_errors	ENST00000326775	ensembl	human	known	70_37	nonsense	SNP	0.976	T
ZMYND10	51364	genome.wustl.edu	37	3	50380604	50380604	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:50380604C>G	ENST00000231749.3	-	6	1816	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.E182Q	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	182					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGTGCAATCTCAAATTCCATC	0.597										TSP Lung(30;0.18)																																							0													164.0	141.0	149.0					3																	50380604		2203	4300	6503	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.544G>C	3.37:g.50380604C>G	ENSP00000231749:p.Glu182Gln		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.E182Q	ENST00000231749.3	37	c.544	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610112	0.87258	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.32023	1.47;1.47;1.47	5.34	5.34	0.76211	.	0.094256	0.64402	D	0.000001	T	0.39989	0.1099	L	0.42686	1.345	0.54753	D	0.999986	D;P	0.53151	0.958;0.867	P;B	0.51487	0.671;0.323	T	0.05566	-1.0877	10	0.35671	T	0.21	-28.5482	19.0525	0.93051	0.0:1.0:0.0:0.0	.	182;182	O75800-2;O75800	.;ZMY10_HUMAN	Q	182;182;139	ENSP00000231749:E182Q;ENSP00000353289:E182Q;ENSP00000393687:E139Q	ENSP00000231749:E182Q	E	-	1	0	ZMYND10	50355608	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.922000	0.56462	2.516000	0.84829	0.561000	0.74099	GAG	ZMYND10	-	pirsf_UCP037948_Znf-MYND		0.597	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	C	NM_015896		50380604	-1	no_errors	ENST00000231749	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF10	7556	genome.wustl.edu	37	12	133733057	133733057	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr12:133733057G>A	ENST00000248211.6	+	5	1447	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.E275K|ZNF10_ENST00000426665.2_Missense_Mutation_p.E409K|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCAATGAATGTGGAAA	0.418																																																	0													143.0	145.0	144.0					12																	133733057		2203	4300	6503	SO:0001583	missense	7556			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1225G>A	12.37:g.133733057G>A	ENSP00000248211:p.Glu409Lys		B2RBS1|Q8TC91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E409K	ENST00000248211.6	37	c.1225	CCDS9283.1	12	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236707	0.39498	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.16897	2.31;2.31;2.33	3.72	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.217098	0.23402	N	0.048575	T	0.14184	0.0343	L	0.39566	1.225	0.48185	D	0.999606	B	0.15930	0.015	B	0.20955	0.032	T	0.06917	-1.0800	9	.	.	.	.	11.9939	0.53189	0.0:0.1773:0.8227:0.0	.	409	P21506	ZNF10_HUMAN	K	409;409;275	ENSP00000248211:E409K;ENSP00000393814:E409K;ENSP00000384893:E275K	.	E	+	1	0	ZNF10	132243130	0.000000	0.05858	0.961000	0.40146	0.988000	0.76386	0.419000	0.21247	0.845000	0.35118	0.650000	0.86243	GAA	ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	G	NM_015394		133733057	+1	no_errors	ENST00000248211	ensembl	human	known	70_37	missense	SNP	0.594	A
ZNF114	163071	genome.wustl.edu	37	19	48789654	48789654	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48789654G>A	ENST00000595607.1	+	6	1267	c.773G>A	c.(772-774)aGa>aAa	p.R258K	ZNF114_ENST00000597695.1_Missense_Mutation_p.R224K|ZNF114_ENST00000315849.1_Missense_Mutation_p.R258K|ZNF114_ENST00000600687.1_Missense_Mutation_p.R258K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AACACCTCCAGAAATAACTCA	0.463																																																	0													93.0	86.0	89.0					19																	48789654		2203	4300	6503	SO:0001583	missense	163071			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.773G>A	19.37:g.48789654G>A	ENSP00000469998:p.Arg258Lys		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R258K	ENST00000595607.1	37	c.773	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050309	0.01981	.	.	ENSG00000178150	ENST00000315849	T	0.04603	3.59	2.07	-1.96	0.07525	.	.	.	.	.	T	0.02649	0.0080	N	0.20986	0.625	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.48917	-0.8992	9	0.11485	T	0.65	.	4.6563	0.12618	0.1845:0.0:0.5931:0.2224	.	258	Q8NC26	ZN114_HUMAN	K	258	ENSP00000318898:R258K	ENSP00000318898:R258K	R	+	2	0	ZNF114	53481466	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-1.077000	0.03416	-0.459000	0.07013	0.467000	0.42956	AGA	ZNF114	-	NULL		0.463	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	G	NM_153608		48789654	+1	no_errors	ENST00000315849	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF114	163071	genome.wustl.edu	37	19	48789971	48789971	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:48789971G>A	ENST00000595607.1	+	6	1584	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ZNF114_ENST00000597695.1_Missense_Mutation_p.E330K|ZNF114_ENST00000315849.1_Missense_Mutation_p.E364K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E364K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CTACGAATGTGAAGAATGTGG	0.388																																																	0													115.0	115.0	115.0					19																	48789971		2203	4300	6503	SO:0001583	missense	163071			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.1090G>A	19.37:g.48789971G>A	ENSP00000469998:p.Glu364Lys		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E364K	ENST00000595607.1	37	c.1090	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067171	0.01934	.	.	ENSG00000178150	ENST00000315849	T	0.16597	2.33	2.49	-4.97	0.03029	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	N	0.11651	0.15	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.29243	-1.0018	9	0.02654	T	1	.	7.5714	0.27909	0.2245:0.4608:0.3147:0.0	.	364	Q8NC26	ZN114_HUMAN	K	364	ENSP00000318898:E364K	ENSP00000318898:E364K	E	+	1	0	ZNF114	53481783	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-3.225000	0.00550	-3.366000	0.00178	-0.474000	0.04947	GAA	ZNF114	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	G	NM_153608		48789971	+1	no_errors	ENST00000315849	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF12	7559	genome.wustl.edu	37	7	6730895	6730895	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6730895G>C	ENST00000405858.1	-	5	2219	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	ZNF12_ENST00000404360.1_Missense_Mutation_p.Q486E|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Q522E|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	560					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)		TATGACATCTGAGAGAAGAAT	0.408																																																	0													44.0	48.0	47.0					7																	6730895		2148	4281	6429	SO:0001583	missense	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.1678C>G	7.37:g.6730895G>C	ENSP00000385939:p.Gln560Glu		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q560E	ENST00000405858.1	37	c.1678	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	3.139	-0.176808	0.06380	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.15834	2.39;2.39;2.39	4.0	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002605	T	0.13798	0.0334	L	0.46885	1.475	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.005	T	0.20174	-1.0283	10	0.37606	T	0.19	.	8.8112	0.34967	0.0:0.4634:0.3767:0.16	.	560;522	P17014;P17014-5	ZNF12_HUMAN;.	E	486;560;522;618	ENSP00000384405:Q486E;ENSP00000385939:Q560E;ENSP00000344745:Q522E	ENSP00000344745:Q522E	Q	-	1	0	ZNF12	6697420	0.000000	0.05858	0.989000	0.46669	0.994000	0.84299	0.176000	0.16782	0.230000	0.21059	0.655000	0.94253	CAG	ZNF12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6730895	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF12	7559	genome.wustl.edu	37	7	6731026	6731026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6731026G>C	ENST00000405858.1	-	5	2088	c.1547C>G	c.(1546-1548)tCa>tGa	p.S516*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.S442*|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.S478*|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	516					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)		TTTTACTCCTGAATGAGTTCT	0.418																																																	0													82.0	90.0	88.0					7																	6731026		2185	4297	6482	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.1547C>G	7.37:g.6731026G>C	ENSP00000385939:p.Ser516*		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.S516*	ENST00000405858.1	37	c.1547	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.318858	0.99135	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	3.87	1.05	0.20165	.	0.000000	0.31709	N	0.007188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.1722	0.31262	0.2804:0.0:0.7196:0.0	.	.	.	.	X	442;516;478;574	.	ENSP00000344745:S478X	S	-	2	0	ZNF12	6697551	0.984000	0.35163	0.993000	0.49108	0.967000	0.64934	1.910000	0.39927	0.224000	0.20940	0.563000	0.77884	TCA	ZNF12	-	pfscan_Znf_C2H2		0.418	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731026	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ZNF12	7559	genome.wustl.edu	37	7	6731056	6731056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6731056G>C	ENST00000405858.1	-	5	2058	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.S432*|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.S468*|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	506					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)		AGTGAGGTATGACAACTGGGA	0.418																																																	0													103.0	113.0	110.0					7																	6731056		2190	4299	6489	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.1517C>G	7.37:g.6731056G>C	ENSP00000385939:p.Ser506*		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.S506*	ENST00000405858.1	37	c.1517	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.556813	0.98861	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	3.87	3.87	0.44632	.	0.000000	0.32935	N	0.005468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.568	0.27890	0.1141:0.0:0.8859:0.0	.	.	.	.	X	432;506;468;564	.	ENSP00000344745:S468X	S	-	2	0	ZNF12	6697581	0.000000	0.05858	0.965000	0.40720	0.998000	0.95712	0.730000	0.26043	2.452000	0.82932	0.563000	0.77884	TCA	ZNF12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6731056	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF12	7559	genome.wustl.edu	37	7	6732156	6732156	+	Silent	SNP	G	G	C	rs547070193		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:6732156G>C	ENST00000405858.1	-	5	958	c.417C>G	c.(415-417)ctC>ctG	p.L139L	ZNF12_ENST00000404360.1_Intron|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Intron|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	139					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)		ATGAGTCACAGAGGCTATTTT	0.373																																																	0													171.0	165.0	167.0					7																	6732156		1843	4089	5932	SO:0001819	synonymous_variant	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.417C>G	7.37:g.6732156G>C			A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L139	ENST00000405858.1	37	c.417	CCDS47538.1	7																																																																																			ZNF12	-	NULL		0.373	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6732156	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	silent	SNP	0.980	C
ZNF142	7701	genome.wustl.edu	37	2	219513523	219513523	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219513523C>T	ENST00000449707.1	-	6	1529	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ZNF142_ENST00000411696.2_Missense_Mutation_p.E370K	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGCAGCTCTTCACTGCCAGGG	0.527											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)												0													73.0	72.0	72.0					2																	219513523		2086	4230	6316	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1108G>A	2.37:g.219513523C>T	ENSP00000408643:p.Glu370Lys	2259	Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E370K	ENST00000449707.1	37	c.1108	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705717	0.48412	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12039	2.72;2.72	5.35	4.44	0.53790	Zinc finger, C2H2 (1);	0.190255	0.56097	D	0.000033	T	0.10380	0.0254	N	0.05487	-0.04	0.43095	D	0.994774	P;P	0.47762	0.9;0.859	B;P	0.48873	0.416;0.593	T	0.20207	-1.0282	10	0.08837	T	0.75	-17.8038	16.2684	0.82601	0.0:0.8673:0.1327:0.0	.	370;207	P52746;A8MWU9	ZN142_HUMAN;.	K	370	ENSP00000408643:E370K;ENSP00000398798:E370K	ENSP00000398798:E370K	E	-	1	0	ZNF142	219221767	0.970000	0.33590	0.997000	0.53966	0.999000	0.98932	2.319000	0.43788	1.565000	0.49641	0.655000	0.94253	GAA	ZNF142	-	pfscan_Znf_C2H2		0.527	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	C	NM_005081		219513523	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.975	T
ZNF142	7701	genome.wustl.edu	37	2	219515149	219515149	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr2:219515149C>G	ENST00000449707.1	-	5	802	c.381G>C	c.(379-381)gaG>gaC	p.E127D	ZNF142_ENST00000411696.2_Missense_Mutation_p.E127D	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCACTCTTCTCTTCTTTCT	0.537																																					Colon(170;867 1942 8995 15834 18053)												0													250.0	251.0	251.0					2																	219515149		1963	4160	6123	SO:0001583	missense	7701			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.381G>C	2.37:g.219515149C>G	ENSP00000408643:p.Glu127Asp		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E127D	ENST00000449707.1	37	c.381	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009236	0.19277	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13196	2.61;2.61	5.18	-1.35	0.09114	.	0.384619	0.23797	N	0.044475	T	0.08802	0.0218	L	0.44542	1.39	0.09310	N	1	P	0.40000	0.698	B	0.36959	0.237	T	0.18713	-1.0328	10	0.45353	T	0.12	-4.8142	4.3744	0.11263	0.1627:0.3308:0.0:0.5065	.	127	P52746	ZN142_HUMAN	D	127	ENSP00000408643:E127D;ENSP00000398798:E127D	ENSP00000398798:E127D	E	-	3	2	ZNF142	219223393	0.029000	0.19370	0.044000	0.18714	0.350000	0.29205	-0.550000	0.06034	0.041000	0.15688	-0.140000	0.14226	GAG	ZNF142	-	NULL		0.537	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	C	NM_005081		219515149	-1	no_errors	ENST00000411696	ensembl	human	known	70_37	missense	SNP	0.010	G
ZNF180	7733	genome.wustl.edu	37	19	45001414	45001414	+	Silent	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:45001414G>A	ENST00000221327.4	-	2	335	c.54C>T	c.(52-54)ctC>ctT	p.L18L	ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000586637.1_5'UTR|ZNF180_ENST00000592529.1_5'UTR|ZNF180_ENST00000587047.1_Missense_Mutation_p.S20L|ZNF180_ENST00000391956.4_Silent_p.L18L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L18L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCAGGGTGCTGAGGTCCTGAG	0.632																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												1	Substitution - coding silent(1)	kidney(1)											36.0	34.0	34.0					19																	45001414		2203	4300	6503	SO:0001819	synonymous_variant	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.54C>T	19.37:g.45001414G>A			B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	NULL	p.S20L	ENST00000221327.4	37	c.59	CCDS12639.1	19																																																																																			ZNF180	-	NULL		0.632	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	G	NM_013256		45001414	-1	no_errors	ENST00000590088	ensembl	human	known	70_37	missense	SNP	0.010	A
ZNF189	7743	genome.wustl.edu	37	9	104170480	104170480	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr9:104170480G>C	ENST00000339664.2	+	3	559	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.E102Q|ZNF189_ENST00000374861.3_Missense_Mutation_p.E130Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACCAAACTCAGAAGAGAAATG	0.408																																																	0													68.0	66.0	67.0					9																	104170480		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.430G>C	9.37:g.104170480G>C	ENSP00000342019:p.Glu144Gln		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E144Q	ENST00000339664.2	37	c.430	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041010	0.35989	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.15718	2.4;2.4;2.4	4.66	4.66	0.58398	.	0.000000	0.50627	D	0.000113	T	0.13628	0.0330	L	0.33137	0.985	0.42668	D	0.993501	B;P;B	0.35872	0.038;0.525;0.284	B;B;B	0.28011	0.032;0.085;0.052	T	0.05402	-1.0887	10	0.72032	D	0.01	.	15.8687	0.79091	0.0:0.0:1.0:0.0	.	129;130;144	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	130;144;102	ENSP00000363995:E130Q;ENSP00000342019:E144Q;ENSP00000259395:E102Q	ENSP00000259395:E102Q	E	+	1	0	ZNF189	103210301	0.825000	0.29262	1.000000	0.80357	0.971000	0.66376	0.923000	0.28757	2.873000	0.98535	0.563000	0.77884	GAA	ZNF189	-	NULL		0.408	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	G	NM_003452		104170480	+1	no_errors	ENST00000339664	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF234	10780	genome.wustl.edu	37	19	44661172	44661172	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:44661172C>G	ENST00000426739.2	+	6	1261	c.1003C>G	c.(1003-1005)Caa>Gaa	p.Q335E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q335E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCGTATCCATCAAAGGGTCCA	0.438																																																	0													68.0	75.0	73.0					19																	44661172		2183	4297	6480	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1003C>G	19.37:g.44661172C>G	ENSP00000400878:p.Gln335Glu		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q335E	ENST00000426739.2	37	c.1003	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342987	0.41498	.	.	ENSG00000167380	ENST00000426739	T	0.17854	2.25	4.02	-0.959	0.10343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.13352	0.335	0.09310	N	1	P	0.42908	0.793	B	0.33196	0.159	T	0.26155	-1.0111	9	0.51188	T	0.08	.	5.2308	0.15420	0.2819:0.5531:0.0:0.165	.	335	Q14588	ZN234_HUMAN	E	335	ENSP00000400878:Q335E	ENSP00000400878:Q335E	Q	+	1	0	ZNF226	49353012	0.000000	0.05858	0.009000	0.14445	0.983000	0.72400	-0.690000	0.05138	-0.138000	0.11434	0.591000	0.81541	CAA	ZNF234	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44661172	+1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	0.147	G
ZNF211	10520	genome.wustl.edu	37	19	58152132	58152132	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58152132G>C	ENST00000347302.3	+	3	457	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF211_ENST00000240731.4_Missense_Mutation_p.R106T|ZNF211_ENST00000544273.1_Missense_Mutation_p.R105T|ZNF211_ENST00000254182.7_Missense_Mutation_p.R84T|ZNF211_ENST00000541801.1_Missense_Mutation_p.R84T|ZNF211_ENST00000420680.1_Missense_Mutation_p.R97T|ZNF211_ENST00000299871.5_Missense_Mutation_p.R158T|ZNF211_ENST00000391703.3_Missense_Mutation_p.R32T	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGGAGAAAGAGTGCCACAG	0.428																																																	0													98.0	99.0	99.0					19																	58152132		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.278G>C	19.37:g.58152132G>C	ENSP00000339562:p.Arg93Thr		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R106T	ENST00000347302.3	37	c.317	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.325|8.325	0.825176|0.825176	0.16749|0.16749	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.08102	.|3.24;3.27;3.13;3.17;3.13;3.26;3.26;3.26	3.72|3.72	0.265|0.265	0.15612|0.15612	.|Krueppel-associated box (1);	.|.	.|.	.|.	.|.	T|T	0.05227|0.05227	0.0139|0.0139	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B;B	.|0.45827	.|0.104;0.039;0.027;0.867;0.009;0.005	.|B;B;B;P;B;B	.|0.47645	.|0.031;0.032;0.047;0.553;0.009;0.014	T|T	0.24333|0.24333	-1.0163|-1.0163	5|9	.|0.08837	.|T	.|0.75	.|.	4.8195|4.8195	0.13383|0.13383	0.2139:0.1792:0.6069:0.0|0.2139:0.1792:0.6069:0.0	.|.	.|97;105;158;84;93;106	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	N|T	96|97;93;84;32;84;158;105;106	.|ENSP00000399193:R97T;ENSP00000339562:R93T;ENSP00000254182:R84T;ENSP00000375584:R32T;ENSP00000442601:R84T;ENSP00000299871:R158T;ENSP00000441386:R105T;ENSP00000240731:R106T	.|ENSP00000240731:R106T	K|R	+|+	3|2	2|0	ZNF211|ZNF211	62843944|62843944	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.070000|0.070000	0.16714|0.16714	0.245000|0.245000	0.18142|0.18142	-0.027000|-0.027000	0.13873|0.13873	0.591000|0.591000	0.81541|0.81541	AAG|AGA	ZNF211	-	pfscan_Krueppel-associated_box		0.428	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	G			58152132	+1	no_errors	ENST00000240731	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF248	57209	genome.wustl.edu	37	10	38120188	38120188	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:38120188C>T	ENST00000395867.3	-	0	2645				AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_3'UTR	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GGGGACTCTTCACATATATGT	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.*355G>A	10.37:g.38120188C>T			Q8NDV8|Q9UMP3	RNA	SNP	-	NULL	ENST00000395867.3	37	NULL	CCDS7194.1	10																																																																																			ZNF248	-	-		0.308	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	C	NM_021045		38120188	-1	no_errors	ENST00000494133	ensembl	human	known	70_37	rna	SNP	0.994	T
ZNF251	90987	genome.wustl.edu	37	8	145948354	145948354	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145948354G>T	ENST00000292562.7	-	5	966	c.691C>A	c.(691-693)Cac>Aac	p.H231N	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCCCCAGTGTGACTTCTCTGG	0.428																																																	0													55.0	60.0	58.0					8																	145948354		2066	4222	6288	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.691C>A	8.37:g.145948354G>T	ENSP00000292562:p.His231Asn		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H231N	ENST00000292562.7	37	c.691	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554446	0.45487	.	.	ENSG00000198169	ENST00000292562	T	0.67345	-0.26	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82351	0.5018	M	0.90814	3.15	0.35554	D	0.804165	D	0.69078	0.997	D	0.67725	0.953	D	0.88639	0.3174	9	0.72032	D	0.01	.	12.2851	0.54788	0.0:0.0:1.0:0.0	.	231	Q9BRH9	ZN251_HUMAN	N	231	ENSP00000292562:H231N	ENSP00000292562:H231N	H	-	1	0	ZNF251	145919163	1.000000	0.71417	0.216000	0.23742	0.894000	0.52154	3.684000	0.54671	1.578000	0.49821	0.563000	0.77884	CAC	ZNF251	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	G	NM_138367		145948354	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF251	90987	genome.wustl.edu	37	8	145948737	145948737	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:145948737G>C	ENST00000292562.7	-	5	583	c.308C>G	c.(307-309)tCt>tGt	p.S103C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTTTAAAATAGATAGTTCCTT	0.368																																																	0													10.0	10.0	10.0					8																	145948737		1796	4043	5839	SO:0001583	missense	90987			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.308C>G	8.37:g.145948737G>C	ENSP00000292562:p.Ser103Cys		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S103C	ENST00000292562.7	37	c.308	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816436	0.50527	.	.	ENSG00000198169	ENST00000292562	T	0.08546	3.08	2.63	-0.418	0.12344	.	.	.	.	.	T	0.05640	0.0148	L	0.29908	0.895	0.09310	N	0.999999	P	0.47762	0.9	B	0.40602	0.334	T	0.36986	-0.9725	9	0.38643	T	0.18	-7.7549	5.6286	0.17497	0.6187:0.0:0.3813:0.0	.	103	Q9BRH9	ZN251_HUMAN	C	103	ENSP00000292562:S103C	ENSP00000292562:S103C	S	-	2	0	ZNF251	145919546	0.004000	0.15560	0.136000	0.22124	0.652000	0.38707	-0.232000	0.09055	-0.014000	0.14175	0.313000	0.20887	TCT	ZNF251	-	NULL		0.368	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	G	NM_138367		145948737	-1	no_errors	ENST00000292562	ensembl	human	known	70_37	missense	SNP	0.172	C
ZNF250	58500	genome.wustl.edu	37	8	146107136	146107136	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:146107136C>T	ENST00000292579.7	-	6	1563	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E478K	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTGCCACATTCTGTGCACTGG	0.552																																					NSCLC(16;520 556 24096 40084 43446)												0													76.0	66.0	70.0					8																	146107136		2203	4300	6503	SO:0001583	missense	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1447G>A	8.37:g.146107136C>T	ENSP00000292579:p.Glu483Lys		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E483K	ENST00000292579.7	37	c.1447	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	C	8.491	0.861931	0.17178	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.07327	3.2;3.2	4.1	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.491932	0.17318	N	0.178630	T	0.06917	0.0176	L	0.31845	0.965	0.38804	D	0.955274	P;B	0.36048	0.534;0.06	B;B	0.35353	0.201;0.054	T	0.33777	-0.9855	10	0.62326	D	0.03	-28.4115	9.0936	0.36625	0.1244:0.4734:0.4023:0.0	.	478;483	D3DWP1;P15622	.;ZN250_HUMAN	K	483;478;366	ENSP00000292579:E483K;ENSP00000393442:E478K	ENSP00000292579:E483K	E	-	1	0	ZNF250	146077940	0.000000	0.05858	0.224000	0.23877	0.029000	0.11900	0.016000	0.13377	0.267000	0.21916	-0.494000	0.04653	GAA	ZNF250	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.552	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	C	NM_021061		146107136	-1	no_errors	ENST00000292579	ensembl	human	known	70_37	missense	SNP	0.452	T
ZNF287	57336	genome.wustl.edu	37	17	16456437	16456437	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr17:16456437G>A	ENST00000395824.1	-	6	1636	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	ZNF287_ENST00000395825.3_Missense_Mutation_p.S340F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	333					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTATACACAGAAGTTTTATT	0.313																																																	0													59.0	57.0	58.0					17																	16456437		2203	4300	6503	SO:0001583	missense	57336			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1019C>T	17.37:g.16456437G>A	ENSP00000379168:p.Ser340Phe		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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.S340F	ENST00000395824.1	37	c.1019	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.162323	0.00318	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.05649	3.41;3.41	4.46	-3.58	0.04597	.	1.102560	0.06897	N	0.805243	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	10	0.31617	T	0.26	.	6.212	0.20633	0.5545:0.0:0.3122:0.1334	.	333	Q9HBT7	ZN287_HUMAN	F	340	ENSP00000379169:S340F;ENSP00000379168:S340F	ENSP00000379168:S340F	S	-	2	0	ZNF287	16397162	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.437000	0.02419	-0.617000	0.05664	-0.924000	0.02725	TCT	ZNF287	-	NULL		0.313	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	G			16456437	-1	no_errors	ENST00000395824	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF318	24149	genome.wustl.edu	37	6	43322647	43322647	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:43322647G>C	ENST00000361428.2	-	4	2502	c.2425C>G	c.(2425-2427)Caa>Gaa	p.Q809E	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q809E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	809					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTTGACGGTTGAGAGGTGGGA	0.527																																																	0													308.0	262.0	278.0					6																	43322647		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2425C>G	6.37:g.43322647G>C	ENSP00000354964:p.Gln809Glu		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.Q809E	ENST00000361428.2	37	c.2425	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953410	0.53293	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.37235	1.21;2.27	5.98	5.09	0.68999	.	0.126578	0.56097	D	0.000039	T	0.35624	0.0938	L	0.27053	0.805	0.32413	N	0.550425	D	0.61697	0.99	D	0.72982	0.979	T	0.40590	-0.9555	10	0.56958	D	0.05	-6.5922	16.351	0.83208	0.0:0.0:0.867:0.133	.	809	Q5VUA4	ZN318_HUMAN	E	809	ENSP00000323032:Q809E;ENSP00000354964:Q809E	ENSP00000323032:Q809E	Q	-	1	0	ZNF318	43430625	1.000000	0.71417	0.985000	0.45067	0.695000	0.40330	5.131000	0.64751	1.472000	0.48140	0.655000	0.94253	CAA	ZNF318	-	NULL		0.527	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43322647	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	0.999	C
ZNF354B	117608	genome.wustl.edu	37	5	178310916	178310916	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:178310916A>G	ENST00000322434.3	+	5	1689	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	ZNF354B_ENST00000522714.1_3'UTR|RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGAATGCATACTGGAGAA	0.388																																																	0													118.0	116.0	117.0					5																	178310916		2203	4300	6503	SO:0001583	missense	117608			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1463A>G	5.37:g.178310916A>G	ENSP00000327143:p.His488Arg		A8K0V2|Q5U5Z4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H488R	ENST00000322434.3	37	c.1463	CCDS4439.1	5	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930260	0.52866	.	.	ENSG00000178338	ENST00000322434	T	0.67523	-0.27	3.68	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69024	0.3065	M	0.91920	3.255	0.33202	D	0.552311	B	0.31274	0.317	B	0.28465	0.09	T	0.73883	-0.3842	9	0.87932	D	0	-6.4503	6.9426	0.24500	0.8855:0.0:0.1145:0.0	.	488	Q96LW1	Z354B_HUMAN	R	488	ENSP00000327143:H488R	ENSP00000327143:H488R	H	+	2	0	ZNF354B	178243522	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	6.460000	0.73518	0.498000	0.27948	0.454000	0.30748	CAT	ZNF354B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	HGNC	protein_coding	OTTHUMT00000253482.1	A	NM_058230		178310916	+1	no_errors	ENST00000322434	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF37A	7587	genome.wustl.edu	37	10	38407182	38407182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:38407182C>A	ENST00000361085.5	+	7	1448	c.1103C>A	c.(1102-1104)tCa>tAa	p.S368*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.S368*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCATTTAAGTCAGTCCTTACT	0.418																																																	0													81.0	84.0	83.0					10																	38407182		2203	4300	6503	SO:0001587	stop_gained	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1103C>A	10.37:g.38407182C>A	ENSP00000354377:p.Ser368*		B3KRQ3|D3DRZ3|Q96B88	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.S368*	ENST00000361085.5	37	c.1103	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615788	0.87359	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	1.78	0.863	0.19062	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2109	0.20628	0.0:0.8265:0.0:0.1735	.	.	.	.	X	368	.	ENSP00000329141:S368X	S	+	2	0	ZNF37A	38447188	0.000000	0.05858	0.962000	0.40283	0.744000	0.42396	-0.617000	0.05584	0.323000	0.23307	-0.218000	0.12543	TCA	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	C	NM_003421		38407182	+1	no_errors	ENST00000351773	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ZNF365	22891	genome.wustl.edu	37	10	64416242	64416242	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:64416242G>C	ENST00000395251.1	+	5	812	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.E406Q|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	160										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ccaggactttgagaggtgggt	0.438																																																	0													173.0	138.0	150.0					10																	64416242		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.478G>C	10.37:g.64416242G>C	ENSP00000378672:p.Glu160Gln			Missense_Mutation	SNP	NULL	p.E406Q	ENST00000395251.1	37	c.1216	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	G	8.815	0.936074	0.18206	.	.	ENSG00000138311	ENST00000410046;ENST00000395251	T	0.55052	0.54	3.38	-0.271	0.12922	.	8.365750	0.00166	N	0.000000	T	0.28433	0.0703	N	0.08118	0	0.09310	N	1	B;B	0.33103	0.397;0.04	B;B	0.25291	0.059;0.027	T	0.17048	-1.0382	10	0.51188	T	0.08	-21.9538	2.1581	0.03818	0.4726:0.0:0.2932:0.2342	.	160;406	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	Q	406;160	ENSP00000378672:E160Q	ENSP00000378672:E160Q	E	+	1	0	ZNF365	64086248	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	-0.127000	0.10547	-0.070000	0.12908	-0.350000	0.07774	GAG	ZNF365	-	NULL		0.438	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	G	NM_014951		64416242	+1	no_errors	ENST00000410046	ensembl	human	known	70_37	missense	SNP	0.009	C
ZNF423	23090	genome.wustl.edu	37	16	49671685	49671685	+	Missense_Mutation	SNP	C	C	A	rs201588114	byFrequency	TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:49671685C>A	ENST00000561648.1	-	4	1431	c.1378G>T	c.(1378-1380)Gtt>Ttt	p.V460F	ZNF423_ENST00000535559.1_Missense_Mutation_p.V343F|ZNF423_ENST00000562871.1_Missense_Mutation_p.V400F|ZNF423_ENST00000563137.2_Missense_Mutation_p.V400F|ZNF423_ENST00000567169.1_Missense_Mutation_p.V343F|ZNF423_ENST00000562520.1_Missense_Mutation_p.V400F|ZNF423_ENST00000262383.2_Missense_Mutation_p.V460F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	460					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGCTTGCGAACGTGCTCGTTG	0.562																																																	0													144.0	122.0	130.0					16																	49671685		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1378G>T	16.37:g.49671685C>A	ENSP00000455426:p.Val460Phe		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V460F	ENST00000561648.1	37	c.1378	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173673	0.57584	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.29397	1.57;1.57	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.27053	0.805	0.58432	D	0.999995	D	0.60160	0.987	P	0.56865	0.808	T	0.08207	-1.0733	9	.	.	.	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	460	Q2M1K9	ZN423_HUMAN	F	460;343	ENSP00000262383:V460F;ENSP00000442321:V343F	.	V	-	1	0	ZNF423	48229186	0.999000	0.42202	0.986000	0.45419	0.892000	0.51952	4.046000	0.57376	2.346000	0.79739	0.561000	0.74099	GTT	ZNF423	-	smart_Znf_C2H2-like		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	C	NM_015069		49671685	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF439	90594	genome.wustl.edu	37	19	11979141	11979141	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:11979141C>G	ENST00000304030.2	+	3	1457	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.F283L	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAAAGCCTTCAGATCTGCCC	0.453																																																	0													70.0	66.0	67.0					19																	11979141		2203	4300	6503	SO:0001583	missense	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1257C>G	19.37:g.11979141C>G	ENSP00000305077:p.Phe419Leu		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F419L	ENST00000304030.2	37	c.1257	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	8.940	0.965472	0.18583	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.46063	0.88;0.88	0.575	-0.997	0.10215	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48804	0.1520	M	0.80982	2.52	0.25900	N	0.98337	P	0.48294	0.908	P	0.49887	0.625	T	0.44236	-0.9341	9	0.66056	D	0.02	.	5.2931	0.15737	0.0:0.5757:0.0:0.4243	.	419	Q8NDP4	ZN439_HUMAN	L	283;419	ENSP00000395632:F283L;ENSP00000305077:F419L	ENSP00000305077:F419L	F	+	3	2	ZNF439	11840141	0.001000	0.12720	0.008000	0.14137	0.048000	0.14542	-0.334000	0.07883	-0.341000	0.08376	0.194000	0.17425	TTC	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	C			11979141	+1	no_errors	ENST00000304030	ensembl	human	known	70_37	missense	SNP	0.629	G
ZNF507	22847	genome.wustl.edu	37	19	32838121	32838121	+	Intron	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:32838121G>C	ENST00000311921.4	+	1	190				ZNF507_ENST00000544431.1_Intron|ZNF507_ENST00000355898.5_Intron	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GAAATGTTTTGATACTATATA	0.333																																																	0																																										SO:0001627	intron_variant	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.-3+1432G>C	19.37:g.32838121G>C			A8K911|Q2TBF1|Q6MZU0|Q9UPR8	RNA	SNP	-	NULL	ENST00000311921.4	37	NULL	CCDS32985.1	19																																																																																			ZNF507	-	-		0.333	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	G	NM_014910		32838121	+1	no_errors	ENST00000588686	ensembl	human	known	70_37	rna	SNP	1.000	C
ZNF518B	85460	genome.wustl.edu	37	4	10446572	10446572	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:10446572C>G	ENST00000326756.3	-	3	1819	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	461					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAAAATCCTCAATTGTTTCC	0.318																																																	0													56.0	60.0	59.0					4																	10446572		2203	4300	6503	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1381G>C	4.37:g.10446572C>G	ENSP00000317614:p.Glu461Gln		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E461Q	ENST00000326756.3	37	c.1381	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513575	0.27123	.	.	ENSG00000178163	ENST00000326756	T	0.01665	4.7	5.43	2.16	0.27623	.	0.739206	0.11996	N	0.509282	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.49818	-0.8899	10	0.27082	T	0.32	-11.3742	4.094	0.09982	0.0:0.4838:0.1689:0.3472	.	461	Q9C0D4	Z518B_HUMAN	Q	461	ENSP00000317614:E461Q	ENSP00000317614:E461Q	E	-	1	0	ZNF518B	10055670	0.015000	0.18098	0.003000	0.11579	0.191000	0.23601	0.918000	0.28678	0.204000	0.20548	0.655000	0.94253	GAG	ZNF518B	-	NULL		0.318	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	C	NM_053042		10446572	-1	no_errors	ENST00000326756	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF536	9745	genome.wustl.edu	37	19	31039367	31039367	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:31039367G>A	ENST00000355537.3	+	4	2988	c.2841G>A	c.(2839-2841)atG>atA	p.M947I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	947					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCTTCCATGAAAGTCCACG	0.527																																																	0													125.0	134.0	131.0					19																	31039367		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2841G>A	19.37:g.31039367G>A	ENSP00000347730:p.Met947Ile		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M947I	ENST00000355537.3	37	c.2841	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596484	0.00857	.	.	ENSG00000198597	ENST00000355537	T	0.07327	3.2	5.42	3.27	0.37495	.	0.588826	0.18940	N	0.126948	T	0.05502	0.0145	N	0.24115	0.695	0.35666	D	0.812916	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.23476	-1.0187	10	0.45353	T	0.12	-7.1742	5.6307	0.17508	0.2741:0.158:0.5679:0.0	.	947;947	A7E228;O15090	.;ZN536_HUMAN	I	947	ENSP00000347730:M947I	ENSP00000347730:M947I	M	+	3	0	ZNF536	35731207	0.989000	0.36119	0.900000	0.35374	0.943000	0.58893	1.580000	0.36547	0.635000	0.30488	0.491000	0.48974	ATG	ZNF536	-	NULL		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039367	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.998	A
ZNF528	84436	genome.wustl.edu	37	19	52909928	52909928	+	Intron	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:52909928C>T	ENST00000360465.3	+	6	697				ZNF528_ENST00000594530.1_Silent_p.P101P|ZNF528_ENST00000391788.2_Intron|ZNF528_ENST00000598192.1_Intron	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGAGGCCCCATAAtttttg	0.512																																																	0													39.0	41.0	41.0					19																	52909928		2203	4300	6503	SO:0001627	intron_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.271+32C>T	19.37:g.52909928C>T			B3KPN4|Q86T88|Q96JK0	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P101	ENST00000360465.3	37	c.303	CCDS33091.1	19																																																																																			ZNF528	-	NULL		0.512	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	C	NM_032423		52909928	+1	no_errors	ENST00000594530	ensembl	human	putative	70_37	silent	SNP	0.000	T
ZNF551	90233	genome.wustl.edu	37	19	58197986	58197986	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58197986G>C	ENST00000282296.5	+	3	528	c.343G>C	c.(343-345)Gac>Cac	p.D115H	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.D99H|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTTGAAAGACATTTTGCC	0.483																																																	0													129.0	125.0	127.0					19																	58197986		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.343G>C	19.37:g.58197986G>C	ENSP00000282296:p.Asp115His		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D115H	ENST00000282296.5	37	c.343	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841342	0.32513	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	T	0.49795	0.1578	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.23013	-1.0200	8	0.40728	T	0.16	.	5.9499	0.19239	0.0:0.0:0.6909:0.3091	.	115	Q7Z340	ZN551_HUMAN	H	115;99	.	ENSP00000282296:D99H	D	+	1	0	ZNF551	62889798	0.230000	0.23740	0.005000	0.12908	0.007000	0.05969	3.101000	0.50283	1.472000	0.48140	0.555000	0.69702	GAC	ZNF551	-	NULL		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	G	NM_138347		58197986	+1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.002	C
ZNF583	147949	genome.wustl.edu	37	19	56935048	56935048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56935048C>T	ENST00000333201.9	+	5	1231	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q341*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATTTCTTGCTCAGCATCAGAG	0.413																																																	0													122.0	129.0	127.0					19																	56935048		2203	4300	6503	SO:0001587	stop_gained	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1021C>T	19.37:g.56935048C>T	ENSP00000388502:p.Gln341*		O14850|Q2NKK3	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.Q341*	ENST00000333201.9	37	c.1021	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037354	0.93630	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	.	.	.	4.33	2.11	0.27256	.	0.000000	0.42053	D	0.000762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4276	0.27109	0.2855:0.419:0.2955:0.0	.	.	.	.	X	341	.	.	Q	+	1	0	ZNF583	61626860	0.000000	0.05858	0.032000	0.17829	0.996000	0.88848	-6.574000	0.00061	0.548000	0.28955	0.462000	0.41574	CAG	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	C	NM_152478		56935048	+1	no_errors	ENST00000291598	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZNF551	90233	genome.wustl.edu	37	19	58198826	58198826	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58198826G>C	ENST00000282296.5	+	3	1368	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E379Q|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGTGCTGTGAGTGTGGGAA	0.438																																																	0													89.0	93.0	91.0					19																	58198826		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1183G>C	19.37:g.58198826G>C	ENSP00000282296:p.Glu395Gln		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E395Q	ENST00000282296.5	37	c.1183	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914773	0.17907	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.44	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32436	0.0829	N	0.20574	0.59	0.09310	N	1	D	0.57571	0.98	P	0.57101	0.813	T	0.25257	-1.0137	8	0.46703	T	0.11	.	7.022	0.24920	0.1135:0.5169:0.3696:0.0	.	395	Q7Z340	ZN551_HUMAN	Q	395;379;178	.	ENSP00000282296:E379Q	E	+	1	0	ZNF551	62890638	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.103000	0.10940	-0.391000	0.07763	-0.304000	0.09214	GAG	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	G	NM_138347		58198826	+1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF586	54807	genome.wustl.edu	37	19	58290285	58290285	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58290285C>T	ENST00000396154.2	+	3	503	c.330C>T	c.(328-330)caC>caT	p.H110H	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.T68I|ZNF586_ENST00000391702.3_Silent_p.H67H	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGAGATCACAAACACAGGA	0.423																																																	0													77.0	77.0	77.0					19																	58290285		2051	4246	6297	SO:0001819	synonymous_variant	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.330C>T	19.37:g.58290285C>T			A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	NULL	p.T68I	ENST00000396154.2	37	c.203	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298090	0.01364	.	.	ENSG00000083828	ENST00000396150	T	0.32515	1.45	0.861	-0.299	0.12808	.	.	.	.	.	T	0.14313	0.0346	.	.	.	0.20926	N	0.999827	B	0.18166	0.026	B	0.20384	0.029	T	0.32534	-0.9903	8	0.17832	T	0.49	.	3.1886	0.06609	0.0:0.6676:0.0:0.3324	.	68	A0JLV8	.	I	68	ENSP00000379454:T68I	ENSP00000379454:T68I	T	+	2	0	ZNF586	62982097	0.000000	0.05858	0.045000	0.18777	0.074000	0.17049	-3.449000	0.00467	-0.072000	0.12864	0.467000	0.42956	ACA	ZNF586	-	NULL		0.423	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290285	+1	no_errors	ENST00000396150	ensembl	human	known	70_37	missense	SNP	0.262	T
ZNF586	54807	genome.wustl.edu	37	19	58290446	58290446	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58290446C>T	ENST00000396154.2	+	3	664	c.491C>T	c.(490-492)tCa>tTa	p.S164L	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.H122Y|ZNF586_ENST00000391702.3_Missense_Mutation_p.S121L	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCTCTTCACTCTTGCAG	0.428																																																	0													88.0	88.0	88.0					19																	58290446		2090	4251	6341	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.491C>T	19.37:g.58290446C>T	ENSP00000379458:p.Ser164Leu		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S164L	ENST00000396154.2	37	c.491	CCDS42640.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.351914|1.351914	0.24512|0.24512	.|.	.|.	ENSG00000083828|ENSG00000083828	ENST00000396150|ENST00000449441;ENST00000391702;ENST00000396154	T|T;T	0.05199|0.15487	3.48|2.42;2.42	1.65|1.65	-3.31|-3.31	0.04988|0.04988	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.31578|0.31578	0.945|0.945	0.09310|0.09310	N|N	1|1	B|P	0.18863|0.43392	0.031|0.805	B|P	0.15484|0.44732	0.013|0.459	T|T	0.13019|0.13019	-1.0525|-1.0525	9|9	0.15952|0.41790	T|T	0.53|0.15	.|.	5.9835|5.9835	0.19421|0.19421	0.3107:0.2251:0.4642:0.0|0.3107:0.2251:0.4642:0.0	.|.	122|164	A0JLV8|Q9NXT0	.|ZN586_HUMAN	Y|L	122|164;121;164	ENSP00000379454:H122Y|ENSP00000375583:S121L;ENSP00000379458:S164L	ENSP00000379454:H122Y|ENSP00000375583:S121L	H|S	+|+	1|2	0|0	ZNF586|ZNF586	62982258|62982258	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-10.192000|-10.192000	0.00007|0.00007	-1.202000|-1.202000	0.02655|0.02655	-0.165000|-0.165000	0.13383|0.13383	CAC|TCA	ZNF586	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	C	NM_017652		58290446	+1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF608	57507	genome.wustl.edu	37	5	123984157	123984157	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:123984157C>G	ENST00000306315.5	-	4	2355	c.1920G>C	c.(1918-1920)aaG>aaC	p.K640N	ZNF608_ENST00000504926.1_Missense_Mutation_p.K213N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	640							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCAGCTCTCTCTTTCCCTTTG	0.498																																																	0													69.0	71.0	70.0					5																	123984157		2203	4300	6503	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1920G>C	5.37:g.123984157C>G	ENSP00000307746:p.Lys640Asn		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.K640N	ENST00000306315.5	37	c.1920	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161931	0.38217	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.50277	0.75;0.79	5.61	2.85	0.33270	.	0.048168	0.85682	D	0.000000	T	0.52549	0.1741	L	0.51422	1.61	0.41841	D	0.990127	D	0.67145	0.996	P	0.61477	0.889	T	0.47661	-0.9100	10	0.25751	T	0.34	-26.5829	8.3718	0.32419	0.0:0.6243:0.0:0.3757	.	640	Q9ULD9	ZN608_HUMAN	N	213;640;640;640	ENSP00000427657:K213N;ENSP00000307746:K640N	ENSP00000307746:K640N	K	-	3	2	ZNF608	124012056	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	0.981000	0.29526	1.369000	0.46134	0.551000	0.68910	AAG	ZNF608	-	NULL		0.498	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984157	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF608	57507	genome.wustl.edu	37	5	123984798	123984798	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr5:123984798C>G	ENST00000306315.5	-	4	1714	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	427							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTCATCTCCAGGTCACTT	0.542																																																	0													23.0	26.0	25.0					5																	123984798		2199	4279	6478	SO:0001583	missense	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1279G>C	5.37:g.123984798C>G	ENSP00000307746:p.Glu427Gln		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.E427Q	ENST00000306315.5	37	c.1279	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042901	0.93685	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.58506	0.33	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77846	-0.2436	10	0.59425	D	0.04	-30.1765	19.1926	0.93672	0.0:1.0:0.0:0.0	.	427	Q9ULD9	ZN608_HUMAN	Q	427	ENSP00000307746:E427Q	ENSP00000307746:E427Q	E	-	1	0	ZNF608	124012697	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.802000	0.85969	2.537000	0.85549	0.544000	0.68410	GAG	ZNF608	-	NULL		0.542	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	C	XM_114432		123984798	-1	no_errors	ENST00000306315	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF613	79898	genome.wustl.edu	37	19	52443915	52443915	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:52443915G>A	ENST00000293471.6	+	5	867	c.188G>A	c.(187-189)gGa>gAa	p.G63E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G27E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TTGGAACAAGGAGAGCCATGG	0.463																																																	0													145.0	122.0	130.0					19																	52443915		2203	4300	6503	SO:0001583	missense	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.188G>A	19.37:g.52443915G>A	ENSP00000293471:p.Gly63Glu		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G63E	ENST00000293471.6	37	c.188	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482536	0.01027	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.00892	5.57;5.57	2.78	2.78	0.32641	Krueppel-associated box (3);	0.249758	0.21067	N	0.080738	T	0.01287	0.0042	M	0.62266	1.93	0.09310	N	1	B	0.18310	0.027	B	0.15052	0.012	T	0.42666	-0.9438	10	0.21014	T	0.42	.	9.2497	0.37547	0.0:0.0:1.0:0.0	.	63	Q6PF04	ZN613_HUMAN	E	63;27	ENSP00000293471:G63E;ENSP00000375671:G27E	ENSP00000293471:G63E	G	+	2	0	ZNF613	57135727	0.846000	0.29590	0.052000	0.19188	0.158000	0.22134	0.907000	0.28531	1.870000	0.54199	0.563000	0.77884	GGA	ZNF613	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	G	NM_024840		52443915	+1	no_errors	ENST00000293471	ensembl	human	known	70_37	missense	SNP	0.062	A
ZNF620	253639	genome.wustl.edu	37	3	40558125	40558125	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr3:40558125C>G	ENST00000314529.6	+	5	1189	c.1040C>G	c.(1039-1041)tCc>tGc	p.S347C	ZNF620_ENST00000418905.1_Missense_Mutation_p.S233C	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGATTAAGCTCCAACACAGCC	0.443																																																	0													81.0	78.0	79.0					3																	40558125		2203	4300	6503	SO:0001583	missense	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1040C>G	3.37:g.40558125C>G	ENSP00000322265:p.Ser347Cys		Q8N223	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S347C	ENST00000314529.6	37	c.1040	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272117	0.01421	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.36699	1.24;1.24	2.59	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	N	0.16478	0.41	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.11591	-1.0581	8	.	.	.	.	3.4224	0.07398	0.0:0.5631:0.2765:0.1604	.	347	Q6ZNG0	ZN620_HUMAN	C	347;233	ENSP00000322265:S347C;ENSP00000391472:S233C	.	S	+	2	0	ZNF620	40533129	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-4.980000	0.00163	1.468000	0.48064	0.585000	0.79938	TCC	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40558125	+1	no_errors	ENST00000314529	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF625	90589	genome.wustl.edu	37	19	12256835	12256835	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12256835C>G	ENST00000355738.1	-	4	547	c.198G>C	c.(196-198)caG>caC	p.Q66H	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.Q66H|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.Q132H|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TATATGGCTTCTGTCCATATT	0.448																																																	0													102.0	94.0	97.0					19																	12256835		2203	4300	6503	SO:0001583	missense	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.198G>C	19.37:g.12256835C>G	ENSP00000347977:p.Gln66His		A4FU45|I3L0E9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q132H	ENST00000355738.1	37	c.396		19	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538158	0.45176	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.36520	1.25;1.25;1.25	0.856	0.856	0.19019	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42630	0.1211	L	0.52364	1.645	0.21861	N	0.999507	P;D	0.63880	0.943;0.993	P;P	0.55667	0.781;0.679	T	0.22836	-1.0205	9	0.87932	D	0	.	7.5453	0.27764	0.0:1.0:0.0:0.0	.	66;66	A8K8U0;Q96I27	.;ZN625_HUMAN	H	66;66;132	ENSP00000438436:Q66H;ENSP00000347977:Q66H;ENSP00000394380:Q132H	ENSP00000347977:Q66H	Q	-	3	2	AC022415.5	12117835	0.113000	0.22115	0.689000	0.30133	0.945000	0.59286	0.441000	0.21611	0.765000	0.33221	0.313000	0.20887	CAG	ZNF625	-	NULL		0.448	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding		C	NM_145233		12256835	-1	no_errors	ENST00000439556	ensembl	human	known	70_37	missense	SNP	0.867	G
ZNF667	63934	genome.wustl.edu	37	19	56953219	56953219	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:56953219C>G	ENST00000504904.3	-	7	1864	c.1145G>C	c.(1144-1146)gGa>gCa	p.G382A	ZNF667_ENST00000292069.6_Missense_Mutation_p.G382A|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G510A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TAGTTTTTCTCCATTATGAAT	0.353																																																	0													66.0	72.0	70.0					19																	56953219		2202	4299	6501	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1145G>C	19.37:g.56953219C>G	ENSP00000439402:p.Gly382Ala		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G510A	ENST00000504904.3	37	c.1529	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143581	0.09134	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.53640	0.61;1.74;1.74	4.94	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.593231	0.14037	N	0.345694	T	0.54431	0.1858	M	0.75085	2.285	0.09310	N	1	P;P	0.43392	0.805;0.698	P;B	0.45753	0.492;0.371	T	0.51220	-0.8733	10	0.87932	D	0	-0.9845	11.0897	0.48108	0.0:0.9098:0.0:0.0902	.	510;382	E7EPS0;Q5HYK9	.;ZN667_HUMAN	A	510;382;382;164	ENSP00000344699:G510A;ENSP00000439402:G382A;ENSP00000292069:G382A	ENSP00000292069:G382A	G	-	2	0	ZNF667	61645031	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.792000	0.26929	1.301000	0.44836	0.591000	0.81541	GGA	ZNF667	-	pfscan_Znf_C2H2		0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	C	NM_022103		56953219	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.011	G
ZNF697	90874	genome.wustl.edu	37	1	120168533	120168533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:120168533G>C	ENST00000421812.2	-	2	310	c.191C>G	c.(190-192)tCa>tGa	p.S64*		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CCTGTGCCTTGAGTCCTGTGG	0.517																																																	0													107.0	109.0	108.0					1																	120168533		1980	4151	6131	SO:0001587	stop_gained	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.191C>G	1.37:g.120168533G>C	ENSP00000396857:p.Ser64*		Q96IT2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S64*	ENST00000421812.2	37	c.191	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148056	0.57151	.	.	ENSG00000143067	ENST00000421812	.	.	.	4.17	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.2534	0.20859	0.3002:0.0:0.6998:0.0	.	.	.	.	X	64	.	ENSP00000396857:S64X	S	-	2	0	ZNF697	119970056	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.301000	0.19174	0.316000	0.23135	0.561000	0.74099	TCA	ZNF697	-	NULL		0.517	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120168533	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF7	7553	genome.wustl.edu	37	8	146068094	146068094	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr8:146068094C>T	ENST00000528372.1	+	5	1842	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Silent_p.F534F|ZNF7_ENST00000446747.2_Silent_p.F545F|ZNF7_ENST00000544249.1_Silent_p.F438F			P17097	ZNF7_HUMAN	zinc finger protein 7	534					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAAAAGCCTTCAGTATGAGCA	0.448																																																	0													97.0	103.0	101.0					8																	146068094		2203	4300	6503	SO:0001819	synonymous_variant	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1602C>T	8.37:g.146068094C>T			B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F534	ENST00000528372.1	37	c.1602	CCDS6435.1	8																																																																																			ZNF7	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	C	NM_003416		146068094	+1	no_errors	ENST00000325241	ensembl	human	known	70_37	silent	SNP	0.476	T
ZNF721	170960	genome.wustl.edu	37	4	437142	437142	+	Missense_Mutation	SNP	G	G	A	rs374184066		TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr4:437142G>A	ENST00000338977.5	-	2	1126	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R372W			Q8TF20	ZN721_HUMAN	zinc finger protein 721	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCTGTGTACCGTCCAAAGGCT	0.413																																																	0								G	TRP/ARG	0,4286		0,0,2143	103.0	109.0	107.0		1114	-1.4	0.0	4		107	1,8561		0,1,4280	no	missense	ZNF721	NM_133474.2	101	0,1,6423	AA,AG,GG		0.0117,0.0,0.0078	benign	372/924	437142	1,12847	2143	4281	6424	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1078C>T	4.37:g.437142G>A	ENSP00000340524:p.Arg360Trp		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R372W	ENST00000338977.5	37	c.1114		4	.	.	.	.	.	.	.	.	.	.	G	3.172	-0.169845	0.06461	0.0	1.17E-4	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07444	3.19;3.19	0.71	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	M	0.68593	2.085	0.09310	N	1	D;B;B	0.71674	0.998;0.001;0.0	P;B;B	0.54026	0.74;0.0;0.0	T	0.09975	-1.0650	9	0.36615	T	0.2	.	3.3684	0.07212	0.2369:0.2678:0.4953:0.0	.	360;372;372	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	W	360;372	ENSP00000340524:R360W;ENSP00000428878:R372W	ENSP00000340524:R360W	R	-	1	2	ZNF721	427142	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.887000	0.00092	-1.017000	0.03367	0.194000	0.17425	CGG	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	G	NM_133474		437142	-1	no_errors	ENST00000511833	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF747	65988	genome.wustl.edu	37	16	30545824	30545824	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr16:30545824C>G	ENST00000252799.3	-	1	844	c.177G>C	c.(175-177)agG>agC	p.R59S	ZNF747_ENST00000569360.1_Missense_Mutation_p.R59S|ZNF747_ENST00000535210.1_Missense_Mutation_p.R59S|AC002310.12_ENST00000569752.1_RNA|AC002310.13_ENST00000568114.1_Intron|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000568028.1_Missense_Mutation_p.R59S|ZNF747_ENST00000395094.3_Missense_Mutation_p.R59S	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						GGTACAGGGCCCTCTGCGCGG	0.731																																																	0													15.0	18.0	17.0					16																	30545824		2192	4292	6484	SO:0001583	missense	65988			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.177G>C	16.37:g.30545824C>G	ENSP00000252799:p.Arg59Ser		A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R59S	ENST00000252799.3	37	c.177	CCDS10682.1	16	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696936	0.68386	.	.	ENSG00000169955	ENST00000535210;ENST00000252799;ENST00000395094	T;T;T	0.02974	4.09;4.09;4.09	2.5	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.14700	0.0355	M	0.90977	3.165	0.25051	N	0.991134	D;D	0.69078	0.997;0.996	D;D	0.75484	0.948;0.986	T	0.04635	-1.0937	9	0.87932	D	0	.	4.7736	0.13167	0.0:0.4895:0.0:0.5105	.	59;59	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	S	59	ENSP00000441702:R59S;ENSP00000252799:R59S;ENSP00000378528:R59S	ENSP00000252799:R59S	R	-	3	2	ZNF747	30453325	0.000000	0.05858	0.977000	0.42913	0.692000	0.40212	0.045000	0.14013	-0.080000	0.12685	0.484000	0.47621	AGG	ZNF747	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.731	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	C	NM_023931		30545824	-1	no_errors	ENST00000535210	ensembl	human	known	70_37	missense	SNP	0.993	G
ZNF791	163049	genome.wustl.edu	37	19	12739205	12739205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:12739205C>T	ENST00000343325.4	+	4	1024	c.862C>T	c.(862-864)Cga>Tga	p.R288*	ZNF791_ENST00000540038.1_Nonsense_Mutation_p.R179*|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R256*|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAGTTTTTTACGAGTACATGA	0.363																																																	0													48.0	43.0	45.0					19																	12739205		2203	4300	6503	SO:0001587	stop_gained	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.862C>T	19.37:g.12739205C>T	ENSP00000342974:p.Arg288*		B7Z586|Q8NC99	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.R288*	ENST00000343325.4	37	c.862	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846770	0.71603	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	.	.	.	1.83	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	4.2646	0.10757	0.4287:0.3531:0.2183:0.0	.	.	.	.	X	288;270;256;179	.	ENSP00000342974:R288X	R	+	1	2	ZNF791	12600205	0.000000	0.05858	0.002000	0.10522	0.948000	0.59901	-0.971000	0.03806	-0.388000	0.07797	0.491000	0.48974	CGA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	C	NM_153358		12739205	+1	no_errors	ENST00000343325	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZNF765	91661	genome.wustl.edu	37	19	53911453	53911453	+	Silent	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:53911453C>T	ENST00000396408.3	+	4	762	c.645C>T	c.(643-645)ttC>ttT	p.F215F	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AAAAATCTTTCCAATGCAATG	0.343																																																	0													68.0	69.0	68.0					19																	53911453		2187	4288	6475	SO:0001819	synonymous_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.645C>T	19.37:g.53911453C>T			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F215	ENST00000396408.3	37	c.645	CCDS46171.1	19																																																																																			ZNF765	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	C	NM_138372		53911453	+1	no_errors	ENST00000396408	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF8	7554	genome.wustl.edu	37	19	58806708	58806708	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58806708C>G	ENST00000196548.5	+	4	1665	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	ZNF8_ENST00000608843.1_Missense_Mutation_p.L512V|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	512					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAACTCACACCTGGTTCAGCA	0.582																																																	0													89.0	97.0	94.0					19																	58806708		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1534C>G	19.37:g.58806708C>G	ENSP00000196548:p.Leu512Val		Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L512V	ENST00000196548.5	37	c.1534	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321708	0.23994	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.06218	3.33	3.54	2.48	0.30137	.	0.236253	0.22093	N	0.064733	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.19666	0.026	T	0.35871	-0.9771	10	0.87932	D	0	-4.1235	11.2455	0.48993	0.0:0.8127:0.1873:0.0	.	512	P17098	ZNF8_HUMAN	V	512;227	ENSP00000196548:L512V	ENSP00000196548:L512V	L	+	1	2	ZNF8	63498520	.	.	0.001000	0.08648	0.021000	0.10359	.	.	1.049000	0.40321	0.549000	0.68633	CTG	ZNF8	-	NULL		0.582	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	C	NM_021089		58806708	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF804B	219578	genome.wustl.edu	37	7	88962775	88962775	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:88962775C>T	ENST00000333190.4	+	4	1088	c.479C>T	c.(478-480)tCa>tTa	p.S160L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	160							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAGGTATCATGCATGAAG	0.438										HNSCC(36;0.09)																																							0													72.0	71.0	71.0					7																	88962775		2203	4299	6502	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.479C>T	7.37:g.88962775C>T	ENSP00000329638:p.Ser160Leu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S160L	ENST00000333190.4	37	c.479	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486328	0.26686	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.4	4.49	0.54785	.	0.542200	0.16404	N	0.215904	T	0.08980	0.0222	L	0.42245	1.32	0.09310	N	1	P	0.49090	0.919	B	0.41946	0.371	T	0.12682	-1.0538	10	0.72032	D	0.01	-5.3703	16.6796	0.85288	0.0:0.8598:0.1402:0.0	.	160	A4D1E1	Z804B_HUMAN	L	160	ENSP00000329638:S160L	ENSP00000329638:S160L	S	+	2	0	ZNF804B	88800711	0.004000	0.15560	0.160000	0.22671	0.431000	0.31685	1.924000	0.40065	2.822000	0.97130	0.650000	0.86243	TCA	ZNF804B	-	NULL		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962775	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	0.005	T
ZNF829	374899	genome.wustl.edu	37	19	37399292	37399292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:37399292G>A	ENST00000391711.3	-	4	530	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	ZNF829_ENST00000520965.1_Nonsense_Mutation_p.Q137*|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATTCATCTGATCAGCGTCC	0.428																																																	0													121.0	123.0	123.0					19																	37399292		2172	4283	6455	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.166C>T	19.37:g.37399292G>A	ENSP00000429266:p.Gln56*		Q3KNS7|Q6ZNN0|Q7Z657	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.Q137*	ENST00000391711.3	37	c.409	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.433731	0.97564	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.8102	0.57635	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000429266:Q56X	Q	-	1	0	ZNF829	42091132	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	4.751000	0.62169	2.474000	0.83562	0.591000	0.81541	CAG	ZNF829	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.428	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37399292	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.976	A
ZRANB2	9406	genome.wustl.edu	37	1	71530062	71530062	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr1:71530062C>G	ENST00000370920.3	-	0	1989				ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000477096.1_5'UTR|ZRANB2_ENST00000254821.6_3'UTR|ZRANB2-AS1_ENST00000426999.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GCAACCGTATCAGCAGAGAAA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.*695G>C	1.37:g.71530062C>G			D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	RNA	SNP	-	NULL	ENST00000370920.3	37	NULL	CCDS659.1	1																																																																																			ZRANB2	-	-		0.328	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	C	NM_203350		71530062	-1	no_errors	ENST00000477096	ensembl	human	known	70_37	rna	SNP	0.000	G
ZSCAN18	65982	genome.wustl.edu	37	19	58601751	58601751	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr19:58601751G>A	ENST00000240727.6	-	0	283				ZSCAN18_ENST00000601144.1_5'UTR|ZSCAN18_ENST00000600404.1_Silent_p.L18L|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAACCCACAGACCTGCAGAG	0.587																																																	0													24.0	28.0	26.0					19																	58601751		692	1591	2283	SO:0001623	5_prime_UTR_variant	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.-117C>T	19.37:g.58601751G>A			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L18	ENST00000240727.6	37	c.52	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL		0.587	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	G	NM_023926		58601751	-1	no_errors	ENST00000600404	ensembl	human	known	70_37	silent	SNP	0.017	A
ZSWIM8	23053	genome.wustl.edu	37	10	75557291	75557291	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:75557291C>G	ENST00000605216.1	+	18	3792	c.3575C>G	c.(3574-3576)tCc>tGc	p.S1192C	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1197C|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1197C|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1159C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1192C	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1192	Ser-rich.						zinc ion binding (GO:0008270)										TCCCTGGGCTCCTCATCCTCC	0.627																																																	0													52.0	59.0	56.0					10																	75557291		1954	4131	6085	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3575C>G	10.37:g.75557291C>G	ENSP00000474748:p.Ser1192Cys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.S1197C	ENST00000605216.1	37	c.3590		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.078080|4.078080	0.76528|0.76528	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|T	.|0.53206	.|0.63	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.67078|0.67078	0.2855|0.2855	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.79784	.|0.993;0.993;0.993;0.993	T|T	0.66011|0.66011	-0.6029|-0.6029	5|10	.|0.51188	.|T	.|0.08	-7.4185|-7.4185	19.534|19.534	0.95242|0.95242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1192;1204;1192;1197	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	A|C	467|1197	.|ENSP00000381693:S1197C	.|ENSP00000381693:S1197C	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75227297|75227297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.383000|7.383000	0.79741|0.79741	2.631000|2.631000	0.89168|0.89168	0.609000|0.609000	0.83330|0.83330	CCT|TCC	ZSWIM8	-	NULL		0.627	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	C	NM_001242487		75557291	+1	no_errors	ENST00000398706	ensembl	human	known	70_37	missense	SNP	1.000	G
ZUFSP	221302	genome.wustl.edu	37	6	116988229	116988229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr6:116988229C>A	ENST00000368576.3	-	2	370	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	ZUFSP_ENST00000368573.1_Nonsense_Mutation_p.E43*|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	43							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AAACACATTTCATCATAATTC	0.338																																																	0													128.0	121.0	123.0					6																	116988229		2202	4300	6502	SO:0001587	stop_gained	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.127G>T	6.37:g.116988229C>A	ENSP00000357565:p.Glu43*		Q5TD92|Q6PJH7|Q96NV6	Nonsense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E43*	ENST00000368576.3	37	c.127	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.381552	0.97520	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	.	.	.	6.07	6.07	0.98685	.	0.091660	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.0878	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000357562:E43X	E	-	1	0	ZUFSP	117094922	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	4.181000	0.58303	2.885000	0.99019	0.655000	0.94253	GAA	ZUFSP	-	smart_Znf_C2H2-like		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	C	NM_145062		116988229	-1	no_errors	ENST00000368576	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZWINT	11130	genome.wustl.edu	37	10	58118056	58118056	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr10:58118056C>G	ENST00000395405.1	-	0	993				ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000373944.3_Intron|ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000318387.2_3'UTR	NM_007057.3|NM_032997.2	NP_008988.2|NP_127490.1	O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TAGCAGAGCTCAGATGCAGAG	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000395405.1:c.*123G>C	10.37:g.58118056C>G			A6NNV6|Q0D2I3|Q9BWD0	RNA	SNP	-	NULL	ENST00000395405.1	37	NULL	CCDS7249.1	10																																																																																			ZWINT	-	-		0.522	ZWINT-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZWINT	HGNC	protein_coding		C			58118056	-1	no_errors	ENST00000478181	ensembl	human	known	70_37	rna	SNP	0.000	G
ZYX	7791	genome.wustl.edu	37	7	143080071	143080071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LA-01A-11D-A22X-09	TCGA-IR-A3LA-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	618a9c00-9d35-4a6a-9b03-261f30d75897	ee0f12d6-333d-4e0b-8d4d-266025e9e71a	g.chr7:143080071C>T	ENST00000322764.5	+	5	1024	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	ZYX_ENST00000392910.2_Nonsense_Mutation_p.Q70*|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000449423.2_Nonsense_Mutation_p.Q140*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	227					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGTTcagccccagccccagcc	0.652																																																	0													78.0	90.0	86.0					7																	143080071		2203	4300	6503	SO:0001587	stop_gained	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.679C>T	7.37:g.143080071C>T	ENSP00000324422:p.Gln227*		A4D2G6|Q6I9S4	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q227*	ENST00000322764.5	37	c.679	CCDS5883.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.617778	0.96649	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	.	.	.	3.97	3.97	0.46021	.	6.995990	0.01754	U	0.030081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2247	0.65850	0.0:1.0:0.0:0.0	.	.	.	.	X	227;195;140;70	.	ENSP00000324422:Q227X	Q	+	1	0	ZYX	142790193	0.001000	0.12720	0.102000	0.21198	0.148000	0.21650	-0.216000	0.09266	1.748000	0.51833	0.561000	0.74099	CAG	ZYX	-	NULL		0.652	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYX	HGNC	protein_coding	OTTHUMT00000156296.2	C	NM_003461		143080071	+1	no_errors	ENST00000322764	ensembl	human	known	70_37	nonsense	SNP	0.756	T
