#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDHB	6390	broad.mit.edu	37	1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	rs121917755		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:17355219G>A	ENST00000375499.3	-	4	449	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	100	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function). {ECO:0000269|PubMed:17634472}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		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;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGCACAAGAGCCACAGAT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		"""paraganglioma, pheochromocytoma"""			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(298-300)tCt>tTt		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						219.0	181.0	194.0					1																	17355219		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17355219G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.299C>T	1.37:g.17355219G>A	ENSP00000364649:p.Ser100Phe						p.S100F	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	449	-		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;0.00669)|Myeloproliferative disorder(586;0.0255)	100		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function).	2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.299C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209374	0.95069	.	.	ENSG00000117118	ENST00000375499	D	0.99129	-5.46	6.17	6.17	0.99709	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.99859	4.855	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97084	0.9786	9	0.87932	D	0	-21.0619	19.4432	0.94831	0.0:0.0:1.0:0.0	.	100	P21912	DHSB_HUMAN	F	100	ENSP00000364649:S100F	ENSP00000364649:S100F	S	-	2	0	SDHB	17227806	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.045000	0.93812	2.941000	0.99782	0.655000	0.94253	TCT		0.468	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		8	100	8	100	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:19489045C>T	ENST00000375254.3	-	35	4852	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375267.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1609					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCTCAGGGCATTCGTGACA	0.512																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4825-4827)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4							113.0	97.0	103.0					1																	19489045		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19489045C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4825G>A	1.37:g.19489045C>T	ENSP00000364403:p.Ala1609Thr					UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T	p.A1609T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4828	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1609					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4825G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607544	0.96626	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.78831	-0.2049	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1609	Q5T4S7	UBR4_HUMAN	T	1609;1609;1609;1609;319;825	ENSP00000364403:A1609T;ENSP00000364416:A1609T;ENSP00000364365:A1609T;ENSP00000364374:A1609T	ENSP00000364365:A1609T	A	-	1	0	UBR4	19361632	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.440000	0.80464	2.847000	0.97988	0.591000	0.81541	GCC		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	89	6	89	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	636	Asp/Glu-rich.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAGAAATACTTGAGCAATTT	0.438																																						ENST00000373921.3																			0											c.(1906-1908)cTt>cGt		thymocyte selection associated family member 2							94.0	94.0	94.0					1																	28212408		1921	4131	6052	SO:0001583	missense	9473							g.chr1:28212408T>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1907T>G	1.37:g.28212408T>G	ENSP00000363031:p.Leu636Arg					THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR	p.L636R	NM_001105556.1	NP_001099026.1					6	1911	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1907T>G	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.48|13.48	2.249374|2.249374	0.39797|0.39797	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|T	0.22743|0.22743	1.94;1.95|1.94	3.92|3.92	-5.52|-5.52	0.02560|0.02560	.|.	4.986860|4.986860	0.00628|0.00628	N|N	0.000476|0.000476	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.0;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.11641|0.11641	-1.0579|-1.0579	10|8	0.49607|0.22706	T|T	0.09|0.39	8.3833|8.3833	1.8448|1.8448	0.03157|0.03157	0.1469:0.3675:0.2363:0.2493|0.1469:0.3675:0.2363:0.2493	.|.	507;440;636|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	R|V	507;636|384	ENSP00000329862:L507R;ENSP00000363031:L636R|ENSP00000398049:L384V	ENSP00000329862:L507R|ENSP00000398049:L384V	L|L	+|+	2|1	0|2	C1orf38|C1orf38	28084995|28084995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-3.030000|-3.030000	0.00638|0.00638	-1.086000|-1.086000	0.03084|0.03084	0.454000|0.454000	0.30748|0.30748	CTT|TTG		0.438	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		13	53	13	53	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:57161715A>G	ENST00000371244.4	+	6	737	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACGTTATTTAAGAAGATCCGA	0.463																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(670-672)aAg>aGg		protein kinase, AMP-activated, alpha 2 catalytic subunit							302.0	300.0	300.0					1																	57161715		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161715A>G	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.671A>G	1.37:g.57161715A>G	ENSP00000360290:p.Lys224Arg						p.K224R	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	737	+			224			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.671A>G	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557797	0.45590	.	.	ENSG00000162409	ENST00000371244	T	0.64618	-0.11	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	N	0.11651	0.15	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.37776	-0.9691	10	0.14252	T	0.57	-20.5928	16.4622	0.84064	1.0:0.0:0.0:0.0	.	224	P54646	AAPK2_HUMAN	R	224	ENSP00000360290:K224R	ENSP00000360290:K224R	K	+	2	0	PRKAA2	56934303	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	AAG		0.463	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		11	275	11	275	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1999	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCACTTGATCTTGCCTGT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5995-5997)Tca>Cca		filaggrin							627.0	497.0	541.0					1																	152281367		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281367A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5995T>C	1.37:g.152281367A>G	ENSP00000357789:p.Ser1999Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1999P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6030	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1999			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5995T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	11.12	1.544959	0.27652	.	.	ENSG00000143631	ENST00000368799	T	0.06449	3.3	3.67	-2.93	0.05598	.	.	.	.	.	T	0.02727	0.0082	M	0.66939	2.045	0.09310	N	1	B	0.28713	0.22	B	0.33295	0.161	T	0.36817	-0.9732	9	0.30078	T	0.28	.	9.5222	0.39143	0.3287:0.0:0.6713:0.0	.	1999	P20930	FILA_HUMAN	P	1999	ENSP00000357789:S1999P	ENSP00000357789:S1999P	S	-	1	0	FLG	150547991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.421000	0.07053	-0.661000	0.05345	0.477000	0.44152	TCA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		97	519	97	519	---	---	---	---
OR10T2	128360	broad.mit.edu	37	1	158369196	158369196	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:158369196G>A	ENST00000334438.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCTCCCCCAGGCTGGAGAAA	0.468																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(61-63)Ctg>Ttg		olfactory receptor, family 10, subfamily T, member 2							33.0	37.0	36.0					1																	158369196		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369196G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.61C>T	1.37:g.158369196G>A							p.L21L	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	60	-	all_hematologic(112;0.0378)		21					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.61C>T	CCDS30895.1																																																																																				0.468	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		4	27	4	27	---	---	---	---
KLHDC9	126823	broad.mit.edu	37	1	161069373	161069373	+	Intron	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:161069373T>A	ENST00000368011.4	+	3	829				KLHDC9_ENST00000490724.2_Intron|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.F231Y	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9											lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGACAGTCCTTTCTTTCTCCC	0.507																																						ENST00000392192.2																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(691-693)tTt>tAt		kelch domain containing 9							243.0	248.0	246.0					1																	161069373		2203	4300	6503	SO:0001627	intron_variant	126823							g.chr1:161069373T>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.688-15T>A	1.37:g.161069373T>A						KLHDC9_ENST00000368011.4_Intron|KLHDC9_ENST00000490724.2_Intron	p.F231Y	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	834	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		0					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.692T>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	T	1.010	-0.688258	0.03328	.	.	ENSG00000162755	ENST00000392192	T	0.47528	0.84	4.67	3.51	0.40186	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.32393	0.145	T	0.32613	-0.9900	8	0.02654	T	1	.	7.1384	0.25541	0.0:0.1036:0.0:0.8964	.	231	Q8NEP7-2	.	Y	231	ENSP00000376030:F231Y	ENSP00000376030:F231Y	F	+	2	0	KLHDC9	159335997	0.000000	0.05858	0.243000	0.24186	0.112000	0.19704	-0.038000	0.12144	1.964000	0.57103	0.533000	0.62120	TTT		0.507	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		19	309	19	309	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103063567	103063567	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:103063567C>T	ENST00000264260.2	+	10	1699	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	IL18RAP_ENST00000409369.1_Silent_p.T228T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	370					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCATCGGGACCCTGGTGGCCG	0.587																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1108-1110)acC>acT		interleukin 18 receptor accessory protein							158.0	160.0	160.0					2																	103063567		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063567C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1110C>T	2.37:g.103063567C>T						IL18RAP_ENST00000409369.1_Silent_p.T228T	p.T370T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1699	+			370					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1110C>T	CCDS2061.1																																																																																				0.587	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		5	167	5	167	---	---	---	---
GALNT15	117248	broad.mit.edu	37	3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:16252698G>A	ENST00000339732.5	+	5	1650	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	383	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGGAGCGTATGACTCTCTTAT	0.547																																						ENST00000339732.5																			0											c.(1147-1149)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							161.0	132.0	142.0					3																	16252698		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16252698G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1147G>A	3.37:g.16252698G>A	ENSP00000344260:p.Asp383Asn					GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	p.D383N	NM_054110.4	NP_473451.3					5	1650	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1147G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379967	0.95945	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.65549	-0.16;-0.16	5.92	5.92	0.95590	.	0.048377	0.85682	D	0.000000	T	0.79293	0.4421	M	0.88241	2.94	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.82967	-0.0194	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	383	Q8N3T1	GLTL2_HUMAN	N	383	ENSP00000344260:D383N;ENSP00000395873:D383N	ENSP00000344260:D383N	D	+	1	0	GALNTL2	16227702	1.000000	0.71417	0.946000	0.38457	0.819000	0.46315	8.621000	0.90949	2.813000	0.96785	0.561000	0.74099	GAC		0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		17	59	17	59	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151165279	151165279	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:151165279A>G	ENST00000282466.3	-	4	2489	c.2490T>C	c.(2488-2490)gaT>gaC	p.D830D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	830					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAGGACTATCAGATATTG	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2488-2490)gaT>gaC		immunoglobulin superfamily, member 10							150.0	155.0	154.0					3																	151165279		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165279A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2490T>C	3.37:g.151165279A>G							p.D830D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2489	-			830					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.2490T>C	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		6	119	6	119	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:45695903A>C	ENST00000303230.4	-	1	350	c.293T>G	c.(292-294)tTc>tGc	p.F98C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	98	Involved in subunit assembly. {ECO:0000250}.				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						CATGGAGGTGAACTGCCTCTG	0.682																																						ENST00000303230.4																			0				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						c.(292-294)tTc>tGc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							26.0	29.0	28.0					5																	45695903		2195	4279	6474	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695903A>C	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.293T>G	5.37:g.45695903A>C	ENSP00000307342:p.Phe98Cys						p.F98C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	350	-			98			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.293T>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274296	0.80580	.	.	ENSG00000164588	ENST00000303230	T	0.80304	-1.36	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.000000	0.48767	D	0.000174	D	0.88562	0.6470	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90033	0.4136	10	0.87932	D	0	.	13.0467	0.58931	1.0:0.0:0.0:0.0	.	98	O60741	HCN1_HUMAN	C	98	ENSP00000307342:F98C	ENSP00000307342:F98C	F	-	2	0	HCN1	45731660	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.500000	0.90498	1.732000	0.51606	0.379000	0.24179	TTC		0.682	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	38	9	38	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98216807	98216807	+	Silent	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:98216807T>G	ENST00000284049.3	-	21	3182	c.3033A>C	c.(3031-3033)gtA>gtC	p.V1011V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1011					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTCATCTCCTACAGTTAAAG	0.294																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3031-3033)gtA>gtC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						71.0	75.0	74.0					5																	98216807		2203	4298	6501	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98216807T>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3033A>C	5.37:g.98216807T>G							p.V1011V	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	21	3182	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1011					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3033A>C	CCDS34204.1																																																																																				0.294	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		14	40	14	40	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783254	140783254	+	Silent	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCAACGGATTTACCGAG	0.557																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(733-735)cgG>cgT									45.0	50.0	49.0					5																	140783254		1994	4168	6162	SO:0001819	synonymous_variant	56107							g.chr5:140783254G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.735G>T	5.37:g.140783254G>T						PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R245R	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	735	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.735G>T	CCDS58981.1																																																																																				0.557	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		12	72	12	72	---	---	---	---
KCNK17	89822	broad.mit.edu	37	6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:39272357G>A	ENST00000373231.4	-	3	659	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	KCNK17_ENST00000453413.2_Missense_Mutation_p.L143F	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGAGGTTGAGTGGGATCCCC	0.637																																						ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(427-429)Ctc>Ttc		potassium channel, subfamily K, member 17							144.0	144.0	144.0					6																	39272357		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272357G>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.427C>T	6.37:g.39272357G>A	ENSP00000362328:p.Leu143Phe					KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	p.L143F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			3	567	-			143					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.427C>T	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173077	0.57584	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.36340	1.26;1.26	4.79	3.91	0.45181	Ion transport 2 (1);	0.000000	0.40469	N	0.001094	T	0.38480	0.1042	L	0.49699	1.58	0.36795	D	0.885057	D;D	0.89917	0.999;1.0	D;D	0.97110	0.978;1.0	T	0.32241	-0.9914	10	0.49607	T	0.09	.	10.3851	0.44134	0.1785:0.0:0.8215:0.0	.	143;143	E9PB46;Q96T54	.;KCNKH_HUMAN	F	143	ENSP00000362328:L143F;ENSP00000401271:L143F	ENSP00000362328:L143F	L	-	1	0	KCNK17	39380335	1.000000	0.71417	0.987000	0.45799	0.721000	0.41392	3.923000	0.56469	0.444000	0.26612	-1.134000	0.01955	CTC		0.637	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		15	102	15	102	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:152676065A>T	ENST00000367255.5	-	67	11256	c.10655T>A	c.(10654-10656)gTg>gAg	p.V3552E	SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552					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)		GGTGTGCAGCACTGAGTTCAA	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(10654-10656)gTg>gAg		spectrin repeat containing, nuclear envelope 1							125.0	128.0	127.0					6																	152676065		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676065A>T	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.10655T>A	6.37:g.152676065A>T	ENSP00000356224:p.Val3552Glu	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E	p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11256	-		Ovarian(120;0.0955)	3552					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10655T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154764	0.38021	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57436	0.4;1.12;0.4;1.12;0.4	5.22	-3.28	0.05033	.	0.671320	0.13481	N	0.384704	T	0.28134	0.0694	L	0.50333	1.59	0.09310	N	0.999998	P;P;P;P	0.43938	0.822;0.822;0.822;0.785	B;B;B;P	0.45276	0.358;0.358;0.358;0.475	T	0.30909	-0.9962	10	0.62326	D	0.03	.	7.9663	0.30100	0.4309:0.1239:0.4452:0.0	.	3552;3552;3552;3559	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3552;3559;3552;3559;3523	ENSP00000356224:V3552E;ENSP00000396024:V3559E;ENSP00000265368:V3552E;ENSP00000390975:V3559E;ENSP00000341887:V3523E	ENSP00000265368:V3552E	V	-	2	0	SYNE1	152717758	0.141000	0.22595	0.136000	0.22124	0.935000	0.57460	2.318000	0.43779	-0.775000	0.04584	-0.379000	0.06801	GTG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	92	7	92	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:66563653T>C	ENST00000359626.5	+	12	1674	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	504					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTCCACCAGTGTAAAATTTC	0.453																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1510-1512)Tgt>Cgt		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							106.0	101.0	102.0					7																	66563653		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66563653T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1510T>C	7.37:g.66563653T>C	ENSP00000352645:p.Cys504Arg						p.C504R	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			12	1674	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	504					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1510T>C	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	T	0.546	-0.851309	0.02651	.	.	ENSG00000198874	ENST00000359626	D	0.91011	-2.77	3.9	-2.13	0.07144	Radical SAM (1);	0.513199	0.20458	U	0.091953	T	0.49830	0.1580	N	0.00031	-2.595	0.38511	D	0.948467	B	0.02656	0.0	B	0.04013	0.001	T	0.60291	-0.7292	10	0.02654	T	1	.	4.3547	0.11172	0.1999:0.5068:0.0:0.2933	.	504	Q9NV66	TYW1_HUMAN	R	504	ENSP00000352645:C504R	ENSP00000352645:C504R	C	+	1	0	TYW1	66201088	0.000000	0.05858	0.966000	0.40874	0.950000	0.60333	0.341000	0.19909	-0.227000	0.09884	-0.461000	0.05368	TGT		0.453	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	70	4	70	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123269122	123269122	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V|ASB15_ENST00000275699.3_Silent_p.V358V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTTTGGCGTTTCTAATAATG	0.453																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)gtT>gtC		ankyrin repeat and SOCS box containing 15							151.0	137.0	142.0					7																	123269122		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123269122T>C	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1074T>C	7.37:g.123269122T>C						ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V	p.V358V			Q8WXK1	ASB15_HUMAN			12	1595	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1074T>C	CCDS34742.1																																																																																				0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			46	73	46	73	---	---	---	---
UBXN2B	137886	broad.mit.edu	37	8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:59343160G>T	ENST00000399598.2	+	3	393	c.271G>T	c.(271-273)Gag>Tag	p.E91*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTTTCAAAGAGGCAAGGGA	0.363																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(271-273)Gag>Tag		UBX domain protein 2B							66.0	64.0	65.0					8																	59343160		1845	4096	5941	SO:0001587	stop_gained	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59343160G>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.271G>T	8.37:g.59343160G>T	ENSP00000382507:p.Glu91*					UBXN2B_ENST00000522978.1_3'UTR	p.E91*	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			3	393	+			91					B3KWZ3	Nonsense_Mutation	SNP	ENST00000399598.2	37	c.271G>T	CCDS43741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.408354|6.408354	0.97542|0.97542	.|.	.|.	ENSG00000215114|ENSG00000215114	ENST00000399598|ENST00000521796	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.45126|.	U|.	0.000395|.	.|T	.|0.76248	.|0.3961	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73418	.|-0.3989	.|3	0.02654|.	T|.	1|.	-17.4385|-17.4385	18.7597|18.7597	0.91845|0.91845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	91|36	.|.	ENSP00000382507:E91X|.	E|R	+|+	1|2	0|0	UBXN2B|UBXN2B	59505714|59505714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.332000|6.332000	0.72934|0.72934	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		15	39	15	39	---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90933337	90933337	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:90933337C>T	ENST00000297438.2	+	5	781	c.426C>T	c.(424-426)agC>agT	p.S142S	OSGIN2_ENST00000451899.2_Silent_p.S186S|OSGIN2_ENST00000520659.1_Silent_p.S186S	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	142					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGACAATCAGCTTTGGAAGTT	0.328																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(556-558)agC>agT		oxidative stress induced growth inhibitor family member 2							115.0	132.0	126.0					8																	90933337		2203	4300	6503	SO:0001819	synonymous_variant	734				germ cell development|meiosis			g.chr8:90933337C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.426C>T	8.37:g.90933337C>T						OSGIN2_ENST00000520659.1_Silent_p.S186S|OSGIN2_ENST00000297438.2_Silent_p.S142S	p.S186S	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		5	818	+			142						Silent	SNP	ENST00000297438.2	37	c.558C>T	CCDS6248.1																																																																																				0.328	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		6	156	6	156	---	---	---	---
TBC1D2	55357	broad.mit.edu	37	9	100962536	100962536	+	Splice_Site	SNP	G	G	A	rs201387462	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:100962536G>A	ENST00000375064.1	-	12	2616	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TBC1D2_ENST00000342112.5_Splice_Site_p.R642W|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000375066.5_Splice_Site_p.R849W	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	860					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCCTCACCGGCTGTTGGAG	0.537													G|||	7	0.00139776	0.0	0.0	5008	,	,		12791	0.0		0.0	False		,,,				2504	0.0072					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2545-2547)Cgg>Tgg		TBC1 domain family, member 2							66.0	58.0	61.0					9																	100962536		2203	4300	6503	SO:0001630	splice_region_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100962536G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2579+1C>T	9.37:g.100962536G>A						TBC1D2_ENST00000375064.1_Splice_Site_p.R860C|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W	p.R849W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	12	2636	-		Myeloproliferative disorder(762;0.0255)	860					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Splice_Site	SNP	ENST00000375064.1	37	c.2545C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.583516|3.583516	0.65992|0.65992	.|.	.|.	ENSG00000095383|ENSG00000095383	ENST00000375064|ENST00000375066;ENST00000342112;ENST00000375063	T|T;T;T	0.20881|0.23147	2.04|1.92;1.92;1.92	4.53|4.53	1.35|1.35	0.21983|0.21983	.|Rab-GAP/TBC domain (1);	0.133866|0.133866	0.48286|0.48286	D|N	0.000191|0.000191	T|T	0.38983|0.38983	0.1061|0.1061	M|M	0.64997|0.64997	1.995|1.995	0.47065|0.47065	D|D	0.999307|0.999307	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.952;0.978	T|T	0.19063|0.19063	-1.0317|-1.0317	8|10	0.87932|0.87932	D|D	0|0	.|.	3.9478|3.9478	0.09355|0.09355	0.0887:0.1346:0.535:0.2417|0.0887:0.1346:0.535:0.2417	.|.	.|860;849	.|Q9BYX2;Q9BYX2-2	.|TBD2A_HUMAN;.	C|W	860|849;642;400	ENSP00000364205:R860C|ENSP00000364207:R849W;ENSP00000341567:R642W;ENSP00000364203:R400W	ENSP00000364205:R860C|ENSP00000341567:R642W	R|R	-|-	1|1	0|2	TBC1D2|TBC1D2	100002357|100002357	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	2.983000|2.983000	0.49345|0.49345	0.441000|0.441000	0.26529|0.26529	0.511000|0.511000	0.50034|0.50034	CGC|CGG		0.537	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	Missense_Mutation	8	18	8	18	---	---	---	---
ZBTB34	403341	broad.mit.edu	37	9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:129641861C>G	ENST00000373452.2	+	1	235	c.171C>G	c.(169-171)ttC>ttG	p.F57L	ZBTB34_ENST00000319119.4_Missense_Mutation_p.F61L			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	57	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCCATATTTCCGGGACCATT	0.463																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(181-183)ttC>ttG		zinc finger and BTB domain containing 34							118.0	126.0	123.0					9																	129641861		2035	4176	6211	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129641861C>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.171C>G	9.37:g.129641861C>G	ENSP00000362551:p.Phe57Leu					ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	p.F61L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	268	+			57			BTB.		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.183C>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351494	0.61183	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	D;D	0.84944	-1.92;-1.92	5.53	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.74389	2.26	0.58432	D	0.999997	B	0.29301	0.241	B	0.35770	0.21	D	0.84215	0.0458	10	0.44086	T	0.13	.	12.298	0.54859	0.0:0.8035:0.0:0.1965	.	57	Q8NCN2	ZBT34_HUMAN	L	61;57	ENSP00000317534:F61L;ENSP00000362551:F57L	ENSP00000317534:F61L	F	+	3	2	ZBTB34	128681682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.463000	0.47967	0.655000	0.94253	TTC		0.463	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		6	97	6	97	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114925329	114925329	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:114925329C>T	ENST00000355995.4	+	15	1965	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.A469V|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	486	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAAAAAGTGCGTTCGCTACA	0.527			T	VTI1A	colorectal																																	ENST00000355717.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1405-1407)gCg>gTg		transcription factor 7-like 2 (T-cell specific, HMG-box)							98.0	106.0	103.0					10																	114925329		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925329C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1458C>T	10.37:g.114925329C>T						TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V	p.A469V	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	13	1913	+		Breast(234;0.058)|Colorectal(252;0.0615)	0			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.760660	0.89932	.	.	ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389	D;D;D	0.99207	-5.54;-5.53;-5.56	5.47	5.47	0.80525	.	.	.	.	.	D	0.98738	0.9576	.	.	.	0.80722	D	1	D;B;B;B;D;B;B	0.62365	0.991;0.021;0.021;0.029;0.958;0.108;0.035	P;B;B;B;B;B;B	0.47162	0.54;0.003;0.005;0.01;0.27;0.017;0.007	D	0.99844	1.1064	8	0.59425	D	0.04	-18.1715	19.3381	0.94329	0.0:1.0:0.0:0.0	.	361;422;388;445;439;469;435	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10	.;.;.;.;.;.;.	V	469;462;156	ENSP00000347949:A469V;ENSP00000446172:A462V;ENSP00000358396:A156V	ENSP00000347949:A469V	A	+	2	0	TCF7L2	114915319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.765000	0.68834	2.558000	0.86282	0.655000	0.94253	GCG		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		5	112	5	112	---	---	---	---
ZRANB1	54764	broad.mit.edu	37	10	126672053	126672053	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:126672053A>G	ENST00000359653.4	+	8	2075	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	568	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGTTGTGGGAACAGAGTTTTT	0.483																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1702-1704)gaA>gaG		zinc finger, RAN-binding domain containing 1							204.0	186.0	192.0					10																	126672053		2203	4300	6503	SO:0001819	synonymous_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126672053A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1704A>G	10.37:g.126672053A>G						ZRANB1_ENST00000471421.1_3'UTR	p.E568E	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	8	2075	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	568			OTU.|TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1704A>G	CCDS7642.1																																																																																				0.483	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		17	86	17	86	---	---	---	---
KRTAP5-1	387264	broad.mit.edu	37	11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	209	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CACGGGCACACCGCAGCCGGA	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(625-627)gGt>gAt		keratin associated protein 5-1							75.0	83.0	80.0					11																	1605854		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1605854C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.626G>A	11.37:g.1605854C>T	ENSP00000371606:p.Gly209Asp					KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G209D	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	659	-		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)	209			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.626G>A	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	c	6.627	0.484064	0.12581	.	.	ENSG00000205869	ENST00000382171	T	0.05081	3.5	3.78	2.84	0.33178	.	.	.	.	.	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.33548	-0.9864	9	0.72032	D	0.01	.	10.8656	0.46853	0.0:0.8063:0.1937:0.0	.	209	Q6L8H4	KRA51_HUMAN	D	209	ENSP00000371606:G209D	ENSP00000371606:G209D	G	-	2	0	KRTAP5-1	1562430	0.723000	0.28027	0.004000	0.12327	0.154000	0.21943	2.256000	0.43231	0.558000	0.29135	0.186000	0.17326	GGT		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		10	72	10	72	---	---	---	---
FOLR3	2352	broad.mit.edu	37	11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	199					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGGTCAGCAACTATAGTCGAG	0.602																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(721-723)aaC>aaG		folate receptor 3 (gamma)	Folic Acid(DB00158)						39.0	42.0	41.0					11																	71850740		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850740C>G	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.723C>G	11.37:g.71850740C>G	ENSP00000390338:p.Asn241Lys					FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K	p.N241K			P41439	FOLR3_HUMAN			5	794	+			199					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.723C>G		.	.	.	.	.	.	.	.	.	.	N	7.166	0.586661	0.13749	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75821	-0.97;-0.97;-0.97	2.94	0.921	0.19403	Folate receptor-like (1);	0.631900	0.12841	U	0.434860	T	0.68732	0.3033	.	.	.	0.09310	N	1	P;B	0.43938	0.822;0.343	B;P	0.48982	0.341;0.597	T	0.57376	-0.7822	8	.	.	.	.	2.5451	0.04735	0.2337:0.4981:0.0:0.2682	.	243;199	E9PGT2;P41439	.;FOLR3_HUMAN	K	241;243;200	ENSP00000390338:N241K;ENSP00000399235:N243K;ENSP00000411161:N200K	.	N	+	3	2	FOLR3	71528388	0.000000	0.05858	0.488000	0.27440	0.009000	0.06853	-0.498000	0.06420	0.088000	0.17205	0.467000	0.42956	AAC		0.602	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		4	44	4	44	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27152541	27152541	+	Silent	SNP	C	C	T	rs201828931		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:27152541C>T	ENST00000343028.4	-	3	540	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGCATGTACTCTGCTCTGGTC	0.473																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(313-315)caG>caA		transmembrane 7 superfamily member 3							157.0	138.0	145.0					12																	27152541		2203	4300	6503	SO:0001819	synonymous_variant	51768					integral to membrane|plasma membrane		g.chr12:27152541C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.315G>A	12.37:g.27152541C>T						TM7SF3_ENST00000542667.1_5'UTR	p.Q105Q	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			3	540	-	Colorectal(261;0.0847)		105					B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	c.315G>A	CCDS8710.1																																																																																				0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		12	30	12	30	---	---	---	---
MORN3	283385	broad.mit.edu	37	12	122107369	122107369	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:122107369T>C	ENST00000355329.3	-	1	191	c.21A>G	c.(19-21)ccA>ccG	p.P7P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	7						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCGACTTTTTTGGGCACTTAG	0.617																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(19-21)ccA>ccG		MORN repeat containing 3							120.0	114.0	116.0					12																	122107369		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122107369T>C	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.21A>G	12.37:g.122107369T>C							p.P7P	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	191	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		7					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.21A>G	CCDS31917.1																																																																																				0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		7	89	7	89	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1317							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctgcctcgtatctctcctctc	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3949-3951)gAt>gTt		zinc finger CCCH-type containing 13							310.0	213.0	246.0					13																	46542010		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46542010T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3950A>T	13.37:g.46542010T>A	ENSP00000242848:p.Asp1317Val					ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V	p.D1317V			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4298	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1317					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3950A>T		.	.	.	.	.	.	.	.	.	.	T	13.89	2.373511	0.42105	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35421	2.31;2.01;1.31	4.98	4.98	0.66077	.	0.108239	0.40064	N	0.001185	T	0.28366	0.0701	L	0.36672	1.1	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.18263	0.009;0.021	T	0.07462	-1.0771	10	0.42905	T	0.14	.	9.9729	0.41765	0.1513:0.0:0.0:0.8487	.	1317;1317	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	1317;273;1317	ENSP00000242848:D1317V;ENSP00000368201:D273V;ENSP00000282007:D1317V	ENSP00000242848:D1317V	D	-	2	0	ZC3H13	45440011	0.999000	0.42202	0.892000	0.35008	0.692000	0.40212	3.480000	0.53172	1.992000	0.58205	0.482000	0.46254	GAT		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		17	58	17	58	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:38061231A>T	ENST00000250448.2	-	2	819	c.758T>A	c.(757-759)aTg>aAg	p.M253K	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(757-759)aTg>aAg		forkhead box A1							26.0	26.0	26.0					14																	38061231		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061231A>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.758T>A	14.37:g.38061231A>T	ENSP00000250448:p.Met253Lys					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K	p.M253K	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	819	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		253					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.758T>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472339	0.84533	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95103	-3.61;-3.61	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.77486	2.375	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.96875	0.9642	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	253	P55317	FOXA1_HUMAN	K	253;220	ENSP00000250448:M253K;ENSP00000440178:M220K	ENSP00000250448:M253K	M	-	2	0	FOXA1	37130982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	ATG		0.687	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	34	4	34	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:75022226T>C	ENST00000261978.4	-	4	1387	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	334					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGAGGGGTGCTCCAGAGGTAC	0.632																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1000-1002)gAg>gGg		latent transforming growth factor beta binding protein 2							95.0	87.0	90.0					14																	75022226		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75022226T>C		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1001A>G	14.37:g.75022226T>C	ENSP00000261978:p.Glu334Gly					CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G	p.E334G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	4	1387	-			334					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1001A>G	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	t	3.197	-0.164535	0.06502	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.23;-1.24	4.7	0.873	0.19118	.	0.925490	0.08846	N	0.885149	T	0.59238	0.2179	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38779	-0.9645	10	0.11485	T	0.65	.	7.5637	0.27866	0.0:0.2796:0.0:0.7204	.	334	Q14767	LTBP2_HUMAN	G	334	ENSP00000261978:E334G;ENSP00000451477:E334G	ENSP00000261978:E334G	E	-	2	0	LTBP2	74091979	0.866000	0.29940	0.220000	0.23810	0.096000	0.18686	0.359000	0.20233	0.305000	0.22832	0.454000	0.30748	GAG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	62	10	62	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:102482692C>G	ENST00000360184.4	+	37	7644	c.7480C>G	c.(7480-7482)Ctg>Gtg	p.L2494V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2494					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGCGATATCTGGTTTATGC	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7480-7482)Ctg>Gtg		dynein, cytoplasmic 1, heavy chain 1							49.0	49.0	49.0					14																	102482692		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482692C>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7480C>G	14.37:g.102482692C>G	ENSP00000348965:p.Leu2494Val						p.L2494V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7644	+			2494					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7480C>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197669	0.38806	.	.	ENSG00000197102	ENST00000360184	T	0.36520	1.25	5.54	2.7	0.31948	.	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	M	0.76574	2.34	0.58432	D	0.999998	P	0.45011	0.848	B	0.39971	0.315	T	0.44832	-0.9302	10	0.66056	D	0.02	.	11.7584	0.51888	0.0:0.7421:0.0:0.2579	.	2494	Q14204	DYHC1_HUMAN	V	2494	ENSP00000348965:L2494V	ENSP00000348965:L2494V	L	+	1	2	DYNC1H1	101552445	0.708000	0.27876	0.943000	0.38184	0.701000	0.40568	1.080000	0.30779	0.823000	0.34589	0.561000	0.74099	CTG		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	49	6	49	---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75114226	75114226	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:75114226C>T	ENST00000309664.5	+	10	1255	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	372						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCTCTCCATGTCACTCA	0.612																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)tcC>tcT		lectin, mannose-binding, 1 like							77.0	70.0	73.0					15																	75114226		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114226C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1116C>T	15.37:g.75114226C>T						LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	p.S372S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			10	1255	+			372					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1116C>T	CCDS10270.1																																																																																				0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			8	41	8	41	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:46694501T>G	ENST00000299138.7	-	17	2332	c.2274A>C	c.(2272-2274)gaA>gaC	p.E758D	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	758					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTTCACTGGATTCAAGATTCG	0.408																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2272-2274)gaA>gaC		vacuolar protein sorting 35 homolog (S. cerevisiae)							92.0	90.0	91.0					16																	46694501		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694501T>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2274A>C	16.37:g.46694501T>G	ENSP00000299138:p.Glu758Asp						p.E758D	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			17	2332	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	758					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2274A>C	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650887	0.29336	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.65732	-0.17	5.64	1.38	0.22167	.	0.044760	0.85682	D	0.000000	T	0.43299	0.1241	L	0.36672	1.1	0.58432	D	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.11446	-1.0587	10	0.18710	T	0.47	-22.1363	5.4343	0.16472	0.1254:0.5292:0.0:0.3454	.	758	Q96QK1	VPS35_HUMAN	D	758;624	ENSP00000299138:E758D	ENSP00000299138:E758D	E	-	3	2	VPS35	45252002	0.880000	0.30214	1.000000	0.80357	0.972000	0.66771	0.016000	0.13377	0.330000	0.23485	-0.624000	0.04008	GAA		0.408	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			15	69	15	69	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	893					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGTAGGCTGCCCCACAAAT	0.512			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2677-2679)gCa>gTa		zinc finger protein 521							118.0	111.0	113.0					18																	22805204		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805204G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2678C>T	18.37:g.22805204G>A	ENSP00000354794:p.Ala893Val					ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2826	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		893					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2678C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510642	0.44660	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27890	1.64;1.64	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.79123	2.44	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.61530	-0.7044	10	0.66056	D	0.02	-20.8964	20.1184	0.97949	0.0:0.0:1.0:0.0	.	893	Q96K83	ZN521_HUMAN	V	893;927;893	ENSP00000354794:A893V;ENSP00000382352:A893V	ENSP00000354794:A893V	A	-	2	0	ZNF521	21059202	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	9.476000	0.97823	2.769000	0.95229	0.655000	0.94253	GCA		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	51	4	51	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:9370528T>G	ENST00000378493.1	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000378501.2_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	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)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1159-1161)gaT>gaG		phospholipase C, beta 4							90.0	88.0	89.0					20																	9370528		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9370528T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1161T>G	20.37:g.9370528T>G	ENSP00000367754:p.Asp387Glu					PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR	p.D387E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			13	1176	+			387			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1161T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795684	0.70452	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.145288	0.64402	D	0.000008	T	0.51753	0.1693	L	0.42529	1.33	0.58432	D	0.999994	P;P;B;P	0.44241	0.829;0.568;0.361;0.67	B;B;B;B	0.38296	0.16;0.27;0.23;0.205	T	0.54682	-0.8257	10	0.41790	T	0.15	.	10.988	0.47532	0.0:0.0726:0.0:0.9274	.	387;234;387;387	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	387;387;387;387;387;223	ENSP00000334105:D387E;ENSP00000367734:D387E;ENSP00000278655:D387E;ENSP00000367754:D387E;ENSP00000367762:D387E;ENSP00000390616:D223E	ENSP00000278655:D387E	D	+	3	2	PLCB4	9318528	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.284000	0.51708	2.139000	0.66308	0.533000	0.62120	GAT		0.333	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	72	12	72	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963818	73963818	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:73963818T>A	ENST00000055682.6	-	3	1185	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	192					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTCATATTTTCTCCAGCA	0.458																																						ENST00000055682.6																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(574-576)Aat>Tat		KIAA2022							63.0	54.0	57.0					X																	73963818		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963818T>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.574A>T	X.37:g.73963818T>A	ENSP00000055682:p.Asn192Tyr						p.N192Y	NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN			3	1185	-								A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.574A>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505390	0.44558	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	6.08	4.93	0.64822	.	1.064610	0.07219	N	0.860460	T	0.33673	0.0871	L	0.36672	1.1	0.28078	N	0.932308	P	0.40875	0.731	B	0.44224	0.444	T	0.25572	-1.0128	10	0.72032	D	0.01	-10.4157	10.6878	0.45854	0.0:0.0745:0.0:0.9255	.	192	Q5QGS0	K2022_HUMAN	Y	192	ENSP00000362567:N192Y;ENSP00000055682:N192Y	ENSP00000055682:N192Y	N	-	1	0	KIAA2022	73880543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.919000	0.40015	2.044000	0.60594	0.486000	0.48141	AAT		0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		5	36	5	36	---	---	---	---
GPC4	2239	broad.mit.edu	37	X	132437323	132437323	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:132437323T>A	ENST00000370828.3	-	8	1863	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	447					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGGGTTGTTGCCCTGG	0.443																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1339-1341)Aac>Tac		glypican 4							179.0	137.0	151.0					X																	132437323		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437323T>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1339A>T	X.37:g.132437323T>A	ENSP00000359864:p.Asn447Tyr					GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	p.N447Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			8	1863	-	Acute lymphoblastic leukemia(192;0.000127)		447					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.1339A>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999361	0.74818	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.58210	0.35;0.35	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82436	-0.0458	10	0.87932	D	0	-14.0574	13.9179	0.63911	0.0:0.0:0.0:1.0	.	447	O75487	GPC4_HUMAN	Y	447;441;377	ENSP00000359864:N447Y;ENSP00000444959:N377Y	ENSP00000359864:N447Y	N	-	1	0	GPC4	132264989	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	8.040000	0.89188	1.883000	0.54544	0.486000	0.48141	AAC		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		3	49	3	49	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:230656648_230656649delTC	ENST00000283943.5	-	28	4301_4302	c.4123_4124delGA	c.(4123-4125)gaafs	p.E1375fs	TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGTGGATTCTCTTTCATCT	0.396																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4123-4125)gaafs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656648_230656649delTC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4123_4124delGA	2.37:g.230656650_230656651delTC	ENSP00000283943:p.Glu1375fs					TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	p.E1375fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4301_4302	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1375					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.4123_4124delGA	CCDS33391.1																																																																																				0.396	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	98	16	98	---	---	---	---
