#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARHGAP22	58504	broad.mit.edu	37	10	49658867	49658867	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:49658867C>T	ENST00000249601.4	-	9	1601	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	ARHGAP22_ENST00000477708.2_Silent_p.P268P|ARHGAP22_ENST00000417912.2_Silent_p.P451P|ARHGAP22_ENST00000374172.1_Silent_p.P326P|ARHGAP22_ENST00000374170.1_Silent_p.P276P|ARHGAP22_ENST00000417247.2_Silent_p.P345P|ARHGAP22_ENST00000435790.2_Silent_p.P441P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	435	Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATAGGGACCTCGGCTGCCGGA	0.682																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1303-1305)ccG>ccA		Rho GTPase activating protein 22							17.0	16.0	16.0					10																	49658867		2193	4293	6486	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49658867C>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1305G>A	10.37:g.49658867C>T						ARHGAP22_ENST00000374172.1_Silent_p.P326P|ARHGAP22_ENST00000417912.2_Silent_p.P451P|ARHGAP22_ENST00000477708.2_Silent_p.P268P|ARHGAP22_ENST00000435790.2_Silent_p.P441P|ARHGAP22_ENST00000417247.2_Silent_p.P345P|ARHGAP22_ENST00000374170.1_Silent_p.P276P	p.P435P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			9	1601	-			435			Ser-rich.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.1305G>A	CCDS7227.1																																																																																				0.682	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		8	5	0	0	0	1	0	8	5				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	167	0	0	0	1	0	4	167				
TDRD5	163589	broad.mit.edu	37	1	179561885	179561885	+	Silent	SNP	C	C	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:179561885C>G	ENST00000367614.1	+	2	494	c.135C>G	c.(133-135)ctC>ctG	p.L45L	RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.L45L|TDRD5_ENST00000444136.1_Silent_p.L45L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	45	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCTACCACTCCGAATCCTTG	0.488																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(133-135)ctC>ctG		tudor domain containing 5							203.0	183.0	190.0					1																	179561885		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561885C>G	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.135C>G	1.37:g.179561885C>G						TDRD5_ENST00000294848.8_Silent_p.L45L|TDRD5_ENST00000367614.1_Silent_p.L45L	p.L45L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			2	385	+			45			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.135C>G	CCDS1332.1																																																																																				0.488	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		25	85	0	0	0	1	0	25	85				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976918	29976918	+	RNA	SNP	G	G	A	rs557657012	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:29976918G>A	ENST00000376797.3	-	0	761				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTTCTTCCCGCAGATAGAAA	0.522													G|||	7	0.00139776	0.0045	0.0	5008	,	,		21111	0.0		0.001	False		,,,				2504	0.0					ENST00000376797.3																			0																																																			80862							g.chr6:29976918G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976918G>A						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	761	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.522	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	96	0	0	0	1	0	4	96				
EIF1B	10289	broad.mit.edu	37	3	40353003	40353003	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr3:40353003G>A	ENST00000232905.3	+	3	496	c.238G>A	c.(238-240)Gga>Aga	p.G80R	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	80					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TCCTGAATACGGAGAGGTTAT	0.368																																						ENST00000232905.3																			0				central_nervous_system(1)|lung(3)	4						c.(238-240)Gga>Aga		eukaryotic translation initiation factor 1B							136.0	134.0	135.0					3																	40353003		2203	4300	6503	SO:0001583	missense	10289				regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40353003G>A	BC006996	CCDS2690.1	3p22.1	2006-02-03			ENSG00000114784	ENSG00000114784			30792	protein-coding gene	gene with protein product						7904817	Standard	NM_005875		Approved	GC20	uc003ckc.3	O60739	OTTHUMG00000131388	ENST00000232905.3:c.238G>A	3.37:g.40353003G>A	ENSP00000232905:p.Gly80Arg						p.G80R	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	496	+			80					Q9UQF8	Missense_Mutation	SNP	ENST00000232905.3	37	c.238G>A	CCDS2690.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698923	0.88830	.	.	ENSG00000114784	ENST00000232905	T	0.34072	1.38	6.17	4.37	0.52481	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	M	0.79614	2.46	0.80722	D	1	P	0.50710	0.938	P	0.50192	0.634	T	0.52011	-0.8632	10	0.87932	D	0	.	10.1641	0.42868	0.074:0.1379:0.788:0.0	.	80	O60739	EIF1B_HUMAN	R	80	ENSP00000232905:G80R	ENSP00000232905:G80R	G	+	1	0	EIF1B	40328007	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.838000	0.86804	0.922000	0.37019	-0.176000	0.13171	GGA		0.368	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1	NM_005875		30	60	0	0	0	1	0	30	60				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	12	0	0	0	1	0	4	12				
OR8B3	390271	broad.mit.edu	37	11	124266603	124266603	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:124266603G>A	ENST00000354597.3	-	1	661	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATAAGAAATGAGGATGGTAC	0.428																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(643-645)ctC>ctT		olfactory receptor, family 8, subfamily B, member 3							127.0	136.0	133.0					11																	124266603		2201	4299	6500	SO:0001819	synonymous_variant	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266603G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.645C>T	11.37:g.124266603G>A							p.L215L	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	661	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	215					Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	c.645C>T	CCDS31709.1																																																																																				0.428	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		47	92	0	0	0	1	0	47	92				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	51	0	0	0	1	0	3	51				
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247.0	258.0	254.0					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	506	0	0	0	1	0	6	506				
USP34	9736	broad.mit.edu	37	2	61430323	61430323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:61430323G>A	ENST00000398571.2	-	75	9536	c.9460C>T	c.(9460-9462)Cga>Tga	p.R3154*	RP11-493E12.2_ENST00000609422.1_RNA	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3154					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTGCAACTCGGCATAATAGA	0.343																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9460-9462)Cga>Tga		ubiquitin specific peptidase 34							119.0	111.0	114.0					2																	61430323		1842	4093	5935	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61430323G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9460C>T	2.37:g.61430323G>A	ENSP00000381577:p.Arg3154*						p.R3154*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		75	9536	-			3154					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.9460C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346606	0.82022	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1236	0.93374	0.0:0.0:1.0:0.0	.	.	.	.	X	3002;2919;3154;32	.	ENSP00000263989:R3002X	R	-	1	2	USP34	61283827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.506000	0.84524	0.460000	0.39030	CGA		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	49	0	0	0	1	0	4	49				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			643253							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	10	1	0	0.150653	1	0.152636	4	10				
GJA5	2702	broad.mit.edu	37	1	147230622	147230622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:147230622C>T	ENST00000271348.2	-	2	886	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	242					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R242Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGTGCTGCCGCGGTTTGAC	0.572																																						ENST00000271348.2																			1	Substitution - Missense(1)	p.R242Q(1)	kidney(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(724-726)cGg>cAg		gap junction protein, alpha 5, 40kDa							57.0	61.0	59.0					1																	147230622		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230622C>T		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.725G>A	1.37:g.147230622C>T	ENSP00000271348:p.Arg242Gln					GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q	p.R242Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	886	-	all_hematologic(923;0.0276)		242					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.725G>A	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406812	0.11754	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97811	-4.51;-4.51;-4.55	5.68	-5.09	0.02920	.	3.468090	0.00447	N	0.000087	D	0.86543	0.5958	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	D	0.87961	0.2730	10	0.13470	T	0.59	.	6.819	0.23847	0.0:0.4313:0.1955:0.3732	.	242	P36382	CXA5_HUMAN	Q	242	ENSP00000271348:R242Q;ENSP00000358240:R242Q;ENSP00000407645:R242Q	ENSP00000271348:R242Q	R	-	2	0	GJA5	145697246	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.121000	0.10643	-1.401000	0.02058	0.563000	0.77884	CGG		0.572	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		24	48	0	0	0	1	0	24	48				
TRIM23	373	broad.mit.edu	37	5	64905078	64905078	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:64905078A>C	ENST00000231524.9	-	6	1407	c.1036T>G	c.(1036-1038)Ttg>Gtg	p.L346V	TRIM23_ENST00000274327.7_Missense_Mutation_p.L346V|TRIM23_ENST00000381018.3_Missense_Mutation_p.L346V|TRIM23_ENST00000508808.1_5'UTR	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	346					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCTGCTGCAAAGTCTTTTCA	0.363																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1036-1038)Ttg>Gtg		tripartite motif containing 23							79.0	75.0	76.0					5																	64905078		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64905078A>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1036T>G	5.37:g.64905078A>C	ENSP00000231524:p.Leu346Val					TRIM23_ENST00000381018.3_Missense_Mutation_p.L346V|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.L346V	p.L346V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	6	1407	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	346					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1036T>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696473	0.68386	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.73258	-0.66;-0.66;-0.73	5.54	1.8	0.24995	B-box, C-terminal (1);	0.154281	0.42682	D	0.000671	T	0.64080	0.2566	L	0.54323	1.7	0.47905	D	0.999543	B;P;B	0.45474	0.162;0.859;0.27	B;B;B	0.43155	0.076;0.41;0.225	T	0.62553	-0.6830	10	0.56958	D	0.05	.	8.4062	0.32616	0.7105:0.0:0.2895:0.0	.	346;346;346	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	346	ENSP00000231524:L346V;ENSP00000370406:L346V;ENSP00000274327:L346V	ENSP00000231524:L346V	L	-	1	2	TRIM23	64940834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.666000	0.46799	0.457000	0.26962	0.533000	0.62120	TTG		0.363	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		26	37	0	0	0	1	0	26	37				
PHKA2	5256	broad.mit.edu	37	X	18959756	18959756	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:18959756G>T	ENST00000379942.4	-	8	1420	c.755C>A	c.(754-756)tCt>tAt	p.S252Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	252					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AATTTCTTTAGATGTCGACGC	0.408																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(754-756)tCt>tAt		phosphorylase kinase, alpha 2 (liver)							97.0	89.0	92.0					X																	18959756		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18959756G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.755C>A	X.37:g.18959756G>T	ENSP00000369274:p.Ser252Tyr						p.S252Y	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			8	1420	-	Hepatocellular(33;0.183)		252					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.755C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.762649	0.89932	.	.	ENSG00000044446	ENST00000379942	D	0.93811	-3.29	5.52	5.52	0.82312	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99123	1.0850	10	0.87932	D	0	-13.4132	18.4804	0.90809	0.0:0.0:1.0:0.0	.	252	P46019	KPB2_HUMAN	Y	252	ENSP00000369274:S252Y	ENSP00000369274:S252Y	S	-	2	0	PHKA2	18869677	1.000000	0.71417	0.752000	0.31206	0.945000	0.59286	9.807000	0.99171	2.306000	0.77630	0.597000	0.82753	TCT		0.408	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		46	17	1	0	8.20599e-20	1	9.15741e-20	46	17				
DHX33	56919	broad.mit.edu	37	17	5357225	5357225	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:5357225C>T	ENST00000225296.3	-	7	1423	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	DHX33_ENST00000433302.3_Missense_Mutation_p.R184K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	408	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGTCCTCTCTGCCAGCCCT	0.567																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1222-1224)aGa>aAa		DEAH (Asp-Glu-Ala-His) box polypeptide 33							81.0	71.0	74.0					17																	5357225		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5357225C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1223G>A	17.37:g.5357225C>T	ENSP00000225296:p.Arg408Lys					DHX33_ENST00000433302.3_Missense_Mutation_p.R184K	p.R408K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			7	1423	-			408			Helicase C-terminal.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.1223G>A	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	36	5.801670	0.96960	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	D;T	0.94613	-3.47;4.0	5.65	5.65	0.86999	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.984;0.998	D	0.99023	1.0818	10	0.87932	D	0	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	184;408	Q05BE5;Q9H6R0	.;DHX33_HUMAN	K	408;184	ENSP00000225296:R408K;ENSP00000413779:R184K	ENSP00000225296:R408K	R	-	2	0	DHX33	5297949	1.000000	0.71417	0.914000	0.36105	0.994000	0.84299	5.835000	0.69368	2.941000	0.99782	0.655000	0.94253	AGA		0.567	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		35	59	0	0	0	1	0	35	59				
JAK1	3716	broad.mit.edu	37	1	65332658	65332658	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:65332658G>A	ENST00000342505.4	-	7	1129	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ATTTTCTGATGAAATCAGTAA	0.418			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(880-882)tCa>tTa		Janus kinase 1							184.0	168.0	173.0					1																	65332658		1898	4124	6022	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65332658G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.881C>T	1.37:g.65332658G>A	ENSP00000343204:p.Ser294Leu						p.S294L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	1129	-			294			FERM.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.881C>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250390	0.39797	.	.	ENSG00000162434	ENST00000342505	T	0.75477	-0.94	5.59	5.59	0.84812	FERM domain (1);	.	.	.	.	T	0.47229	0.1434	N	0.21373	0.66	0.38226	D	0.94088	B	0.26318	0.146	B	0.21360	0.034	T	0.44221	-0.9342	9	0.27785	T	0.31	-2.7041	14.7776	0.69740	0.0:0.0:0.8556:0.1443	.	294	P23458	JAK1_HUMAN	L	294	ENSP00000343204:S294L	ENSP00000343204:S294L	S	-	2	0	JAK1	65105246	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	3.134000	0.50538	2.795000	0.96236	0.655000	0.94253	TCA		0.418	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		45	89	0	0	0	1	0	45	89				
ARVCF	421	broad.mit.edu	37	22	19967759	19967759	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:19967759G>A	ENST00000263207.3	-	6	1194	c.903C>T	c.(901-903)taC>taT	p.Y301Y	ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Silent_p.Y238Y|ARVCF_ENST00000344269.3_Silent_p.Y238Y|ARVCF_ENST00000401994.1_Silent_p.Y238Y|ARVCF_ENST00000406259.1_Silent_p.Y301Y	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	301					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CTGTGTCCTCGTAGGCCCTGC	0.667																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(901-903)taC>taT		armadillo repeat gene deleted in velocardiofacial syndrome							15.0	17.0	16.0					22																	19967759		1990	3950	5940	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19967759G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.903C>T	22.37:g.19967759G>A						ARVCF_ENST00000406522.1_Silent_p.Y238Y|ARVCF_ENST00000344269.3_Silent_p.Y238Y|ARVCF_ENST00000401994.1_Silent_p.Y238Y|ARVCF_ENST00000406259.1_Silent_p.Y301Y	p.Y301Y	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			6	1194	-	Colorectal(54;0.0993)		301					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.903C>T	CCDS13771.1																																																																																				0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		14	34	0	0	0	1	0	14	34				
OR51M1	390059	broad.mit.edu	37	11	5411307	5411307	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:5411307G>A	ENST00000328611.3	+	1	701	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	227					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTCATCGCACTGTCCTA	0.542																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(679-681)Gca>Aca		olfactory receptor, family 51, subfamily M, member 1							136.0	131.0	133.0					11																	5411307		2081	4201	6282	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411307G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.679G>A	11.37:g.5411307G>A	ENSP00000333196:p.Ala227Thr					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.A227T	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	701	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	227					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.679G>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919261	0.33908	.	.	ENSG00000184698	ENST00000328611	T	0.00123	8.7	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	1.235430	0.06313	U	0.703073	T	0.00144	0.0004	L	0.31157	0.91	0.09310	N	1	B	0.32203	0.36	B	0.33568	0.166	T	0.48833	-0.9000	10	0.87932	D	0	.	8.5717	0.33574	0.0844:0.1531:0.7625:0.0	.	216	Q9H341	O51M1_HUMAN	T	227	ENSP00000333196:A227T	ENSP00000333196:A227T	A	+	1	0	OR51M1	5367883	0.000000	0.05858	0.246000	0.24233	0.470000	0.32858	-0.047000	0.11963	2.616000	0.88540	0.655000	0.94253	GCA		0.542	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		34	51	0	0	0	1	0	34	51				
QSOX2	169714	broad.mit.edu	37	9	139100937	139100937	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139100937G>A	ENST00000358701.5	-	12	1771	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	578					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTCCTTCACTGGAATCCCCCT	0.597																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1732-1734)tcC>tcT		quiescin Q6 sulfhydryl oxidase 2							89.0	85.0	86.0					9																	139100937		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139100937G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1734C>T	9.37:g.139100937G>A							p.S578S	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	12	1771	-		Myeloproliferative disorder(178;0.0511)	578					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.1734C>T	CCDS35178.1																																																																																				0.597	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		24	75	0	0	0	1	0	24	75				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	103	0	0	0	1	0	7	103				
C9orf139	401563	broad.mit.edu	37	9	139929153	139929153	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139929153G>A	ENST00000314330.2	+	3	1734	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	74										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		ACGCCTGCGGGTGACCCGGCC	0.647																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(220-222)Gtg>Atg		chromosome 9 open reading frame 139							44.0	52.0	49.0					9																	139929153		2201	4291	6492	SO:0001583	missense	401563							g.chr9:139929153G>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.220G>A	9.37:g.139929153G>A	ENSP00000318119:p.Val74Met						p.V74M	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1734	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	74					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.220G>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	g	8.934	0.964187	0.18583	.	.	ENSG00000180539	ENST00000314330	T	0.55930	0.49	3.0	3.0	0.34707	.	.	.	.	.	T	0.45094	0.1325	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.29088	-1.0023	9	0.59425	D	0.04	.	9.6877	0.40109	0.0:0.0:1.0:0.0	.	74	Q6ZV77	CI139_HUMAN	M	74	ENSP00000318119:V74M	ENSP00000318119:V74M	V	+	1	0	C9orf139	139048974	0.000000	0.05858	0.023000	0.16930	0.135000	0.20990	0.422000	0.21296	1.973000	0.57446	0.290000	0.19541	GTG		0.647	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		4	153	0	0	0	1	0	4	153				
SCRIB	23513	broad.mit.edu	37	8	144894993	144894993	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:144894993C>T	ENST00000320476.3	-	8	787	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	SCRIB_ENST00000377533.3_Missense_Mutation_p.G180S|SCRIB_ENST00000356994.2_Missense_Mutation_p.G261S|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	261	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TAACCGATGCCGTCGGGCAGC	0.692																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(781-783)Ggc>Agc		scribbled planar cell polarity protein							27.0	30.0	29.0					8																	144894993		2202	4293	6495	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144894993C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.781G>A	8.37:g.144894993C>T	ENSP00000322938:p.Gly261Ser					SCRIB_ENST00000320476.3_Missense_Mutation_p.G261S|SCRIB_ENST00000377533.3_Missense_Mutation_p.G180S	p.G261S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	787	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		261			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.781G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359855	0.24598	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.49720	1.57;0.77;1.38	4.16	4.16	0.48862	.	.	.	.	.	T	0.34687	0.0906	N	0.04148	-0.265	0.39035	D	0.960025	P;D	0.59767	0.951;0.986	B;P	0.54100	0.181;0.742	T	0.25293	-1.0136	9	0.35671	T	0.21	.	9.6569	0.39932	0.0:0.902:0.0:0.098	.	261;261	Q14160;Q14160-3	SCRIB_HUMAN;.	S	261;261;180	ENSP00000349486:G261S;ENSP00000322938:G261S;ENSP00000366756:G180S	ENSP00000322938:G261S	G	-	1	0	SCRIB	144966981	0.998000	0.40836	0.955000	0.39395	0.043000	0.13939	3.429000	0.52800	2.000000	0.58554	0.563000	0.77884	GGC		0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		4	92	0	0	0	1	0	4	92				
COL9A2	1298	broad.mit.edu	37	1	40775613	40775613	+	Silent	SNP	G	G	A	rs140305893		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:40775613G>A	ENST00000372748.3	-	16	939	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	281	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GACTCACCTCGTCACCCTTCT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21605	0.0		0.0	False		,,,				2504	0.0					ENST00000372748.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.D281D(2)|p.D281E(1)	urinary_tract(1)|lung(1)|endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(841-843)gaC>gaT		collagen, type IX, alpha 2		G		1,4405		0,1,2202	118.0	111.0	114.0		843	-4.3	0.5	1	dbSNP_134	114	1,8599		0,1,4299	no	coding-synonymous	COL9A2	NM_001852.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		281/690	40775613	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775613G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.843C>T	1.37:g.40775613G>A							p.D281D	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		16	939	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	281			Triple-helical region 3 (COL3).		B2RMP9	Silent	SNP	ENST00000372748.3	37	c.843C>T	CCDS450.1																																																																																				0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		5	180	0	0	0	1	0	5	180				
FAM57B	83723	broad.mit.edu	37	16	30036995	30036995	+	Intron	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:30036995C>A	ENST00000380495.4	-	4	1272				FAM57B_ENST00000564806.1_Nonsense_Mutation_p.G148*|FAM57B_ENST00000279389.4_Intron	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B						ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AAGGTCCCTCCCCTTCCTGTG	0.612																																						ENST00000564806.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(442-444)Gga>Tga		family with sequence similarity 57, member B							106.0	100.0	102.0					16																	30036995		1568	3582	5150	SO:0001627	intron_variant	83723					endoplasmic reticulum|integral to membrane		g.chr16:30036995C>A	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.540+51G>T	16.37:g.30036995C>A						FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron	p.G148*			Q71RH2	FA57B_HUMAN			3	487	-			0			TLC.		Q9H0J1	Nonsense_Mutation	SNP	ENST00000380495.4	37	c.442G>T	CCDS10667.2																																																																																				0.612	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		4	190	1	0	1	1	1	4	190				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	66	0	0	0	1	0	4	66				
CACNA1C	775	broad.mit.edu	37	12	2690928	2690928	+	Missense_Mutation	SNP	G	G	T	rs369638898		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:2690928G>T	ENST00000347598.4	+	14	2068	c.2068G>T	c.(2068-2070)Gat>Tat	p.D690Y	CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	690					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D690H(3)|p.D720H(1)|p.D225H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCACATTCGATAACTTCCC	0.542																																						ENST00000399655.1																			5	Substitution - Missense(5)	p.D690H(3)|p.D720H(1)|p.D225H(1)	cervix(5)	NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(2068-2070)Gat>Tat		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						86.0	91.0	90.0					12																	2690928		2176	4294	6470	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2690928G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2068G>T	12.37:g.2690928G>T	ENSP00000266376:p.Asp690Tyr					CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D690Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690Y	p.D690Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	14	2333	+			690					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2068G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433653	0.83776	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.62	4.62	0.57501	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99080	0.9684	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.989;0.969;0.999;0.98;0.991;0.969;0.991;0.994;0.98;0.991;0.969;1.0;0.983;0.988;0.992;0.999;1.0;0.991;1.0;0.969;0.991;0.991;0.969;0.999;0.969	P;P;D;P;D;P;D;D;D;D;P;D;D;D;D;D;D;D;D;P;D;D;P;D;P	0.83275	0.889;0.789;0.985;0.889;0.933;0.789;0.933;0.974;0.952;0.933;0.789;0.996;0.933;0.918;0.96;0.98;0.988;0.933;0.988;0.789;0.933;0.933;0.789;0.971;0.789	D	0.99072	1.0834	10	0.87932	D	0	.	17.9871	0.89159	0.0:0.0:1.0:0.0	.	690;687;690;690;690;690;690;690;690;690;690;661;690;690;690;690;690;690;690;690;690;690;690;690;690	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	715;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;690;531	ENSP00000336982:D715Y;ENSP00000382563:D690Y;ENSP00000437936:D690Y;ENSP00000382552:D690Y;ENSP00000382547:D690Y;ENSP00000382506:D690Y;ENSP00000382530:D690Y;ENSP00000382546:D690Y;ENSP00000382500:D690Y;ENSP00000382549:D690Y;ENSP00000266376:D690Y;ENSP00000382515:D690Y;ENSP00000382510:D690Y;ENSP00000341092:D690Y;ENSP00000382537:D690Y;ENSP00000329877:D690Y;ENSP00000382557:D690Y;ENSP00000385724:D690Y;ENSP00000382512:D690Y;ENSP00000382542:D690Y;ENSP00000382526:D690Y;ENSP00000385896:D690Y;ENSP00000382504:D690Y	ENSP00000323129:D531Y	D	+	1	0	CACNA1C	2561189	1.000000	0.71417	0.847000	0.33407	0.868000	0.49771	7.742000	0.85008	2.554000	0.86153	0.491000	0.48974	GAT		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		13	27	1	0	0.000219431	1	0.000228327	13	27				
TFAP2C	7022	broad.mit.edu	37	20	55206371	55206371	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:55206371A>T	ENST00000201031.2	+	2	402	c.159A>T	c.(157-159)gaA>gaT	p.E53D	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	53	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAGTCGCCGAATATCAGCCGC	0.687																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(157-159)gaA>gaT		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							39.0	38.0	38.0					20																	55206371		2203	4300	6503	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206371A>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.159A>T	20.37:g.55206371A>T	ENSP00000201031:p.Glu53Asp					TFAP2C_ENST00000544508.1_5'UTR	p.E53D	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	402	+			53			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.159A>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	3.604	-0.080886	0.07141	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	T;T	0.59906	0.23;0.23	5.57	-2.43	0.06522	.	0.128941	0.64402	N	0.000001	T	0.18383	0.0441	N	0.02403	-0.565	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33420	-0.9869	10	0.02654	T	1	-22.5982	3.4334	0.07437	0.2142:0.3795:0.3136:0.0927	.	53	Q92754	AP2C_HUMAN	D	53;41	ENSP00000201031:E53D;ENSP00000390857:E41D	ENSP00000201031:E53D	E	+	3	2	TFAP2C	54639778	1.000000	0.71417	0.805000	0.32314	0.315000	0.28087	1.430000	0.34914	-0.290000	0.09025	-0.488000	0.04728	GAA		0.687	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		22	69	0	0	0	1	0	22	69				
AKAP13	11214	broad.mit.edu	37	15	86262331	86262331	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr15:86262331A>G	ENST00000394518.2	+	23	6121	c.6026A>G	c.(6025-6027)cAt>cGt	p.H2009R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.H254R|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2013R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2009	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTTTCATCATGTCCGCACT	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6025-6027)cAt>cGt		A kinase (PRKA) anchor protein 13							129.0	114.0	119.0					15																	86262331		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86262331A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6026A>G	15.37:g.86262331A>G	ENSP00000378026:p.His2009Arg					AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2013R|AKAP13_ENST00000394510.2_Missense_Mutation_p.H254R	p.H2009R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			23	6121	+			2009			DH.|Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6026A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317952	0.60524	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.64618	-0.11;-0.11;-0.11	5.16	5.16	0.70880	Dbl homology (DH) domain (5);	.	.	.	.	T	0.80854	0.4703	M	0.85859	2.78	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.84234	0.0468	9	0.87932	D	0	.	14.63	0.68650	1.0:0.0:0.0:0.0	.	1989;2009;2013	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	R	89;2013;2009;2012;1988;254	ENSP00000354718:H2013R;ENSP00000378026:H2009R;ENSP00000378018:H254R	ENSP00000354718:H2013R	H	+	2	0	AKAP13	84063335	1.000000	0.71417	0.989000	0.46669	0.252000	0.25951	8.709000	0.91379	2.291000	0.77112	0.533000	0.62120	CAT		0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	51	0	0	0	1	0	28	51				
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(112-114)cTg>cCg		aquaporin 7							127.0	86.0	100.0					9																	33395107		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395107A>G	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.113T>C	9.37:g.33395107A>G	ENSP00000439534:p.Leu38Pro					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR	p.L38P			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	351	-			38		L -> V (in dbSNP:rs2381003).			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.113T>C		.	.	.	.	.	.	.	.	.	.	A	14.54	2.567065	0.45694	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.27	4.27	0.50696	Aquaporin-like (2);	0.000000	0.64402	D	0.000002	D	0.94499	0.8229	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	D	0.94950	0.8099	10	0.87932	D	0	-15.8903	9.9674	0.41732	1.0:0.0:0.0:0.0	.	37;38;38	Q5T5M0;B7Z4U2;O14520	.;.;AQP7_HUMAN	P	37;38;37;38	ENSP00000368821:L37P;ENSP00000297988:L38P;ENSP00000368820:L37P;ENSP00000439534:L38P	ENSP00000297988:L38P	L	-	2	0	AQP7	33385107	1.000000	0.71417	0.980000	0.43619	0.162000	0.22319	5.149000	0.64863	1.945000	0.56424	0.445000	0.29226	CTG		0.587	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	94	0	0	0	1	0	4	94				
CLN8	2055	broad.mit.edu	37	8	1719543	1719543	+	Missense_Mutation	SNP	C	C	T	rs143701028		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:1719543C>T	ENST00000331222.4	+	2	570	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	108	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTTCACATCACGACAGCAACG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20711	0.001		0.0	False		,,,				2504	0.0				Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(322-324)aCg>aTg		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	152.0	140.0	144.0		323	5.1	0.0	8	dbSNP_134	144	0,8600		0,0,4300	no	missense	CLN8	NM_018941.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	108/287	1719543	1,13005	2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719543C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.323C>T	8.37:g.1719543C>T	ENSP00000328182:p.Thr108Met						p.T108M	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	570	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	108			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.323C>T	CCDS5956.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.38	1.335507	0.24253	2.27E-4	0.0	ENSG00000182372	ENST00000331222	D	0.84800	-1.9	5.06	5.06	0.68205	TRAM/LAG1/CLN8 homology domain (3);	0.680983	0.13128	U	0.411660	T	0.78616	0.4311	L	0.44542	1.39	0.09310	N	1	P	0.43477	0.808	B	0.40066	0.318	T	0.70249	-0.4924	9	.	.	.	-23.1746	6.6036	0.22714	0.0:0.7733:0.0:0.2267	.	108	Q9UBY8	CLN8_HUMAN	M	108	ENSP00000328182:T108M	.	T	+	2	0	CLN8	1706950	0.988000	0.35896	0.004000	0.12327	0.098000	0.18820	5.595000	0.67563	2.329000	0.79093	0.455000	0.32223	ACG		0.537	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		34	104	0	0	0	1	0	34	104				
ENTHD1	150350	broad.mit.edu	37	22	40257895	40257895	+	Missense_Mutation	SNP	A	A	G	rs371013997		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:40257895A>G	ENST00000325157.6	-	3	717	c.467T>C	c.(466-468)tTg>tCg	p.L156S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	156										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTAGAAAACAATATAGAGTG	0.443																																						ENST00000325157.6																			0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(466-468)tTg>tCg		ENTH domain containing 1							80.0	77.0	78.0					22																	40257895		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40257895A>G	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.467T>C	22.37:g.40257895A>G	ENSP00000317431:p.Leu156Ser						p.L156S	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN			3	717	-	Melanoma(58;0.0749)		156					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.467T>C	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	0.935	-0.711294	0.03230	.	.	ENSG00000176177	ENST00000325157	T	0.40756	1.02	6.17	5.16	0.70880	.	0.852777	0.10414	N	0.677515	T	0.17492	0.0420	N	0.02539	-0.55	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.09037	-1.0693	10	0.02654	T	1	0.1501	10.7718	0.46327	0.088:0.0:0.912:0.0	.	156	Q8IYW4	ENTD1_HUMAN	S	156	ENSP00000317431:L156S	ENSP00000317431:L156S	L	-	2	0	ENTHD1	38587841	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.880000	0.28159	1.601000	0.50113	-0.242000	0.12053	TTG		0.443	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		12	32	0	0	0	1	0	12	32				
IKZF3	22806	broad.mit.edu	37	17	37922495	37922495	+	Missense_Mutation	SNP	C	C	T	rs144257869	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:37922495C>T	ENST00000346872.3	-	8	1139	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	IKZF3_ENST00000467757.1_Missense_Mutation_p.E304K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E217K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E287K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E321K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E139K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E321K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E113K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E273K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E282K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E326K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E265K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E178K|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377945.3_Missense_Mutation_p.E226K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	360					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTTTCTTTTCCAGCTCTTGA	0.562																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1078-1080)Gaa>Aaa		IKAROS family zinc finger 3 (Aiolos)		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	138.0	126.0	130.0		1078,910,961,961,793,844	5.7	1.0	17	dbSNP_134	130	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense,missense,missense,missense	IKZF3	NM_012481.3,NM_183228.1,NM_183229.1,NM_183230.1,NM_183231.1,NM_183232.1	56,56,56,56,56,56	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	360/510,304/454,321/471,321/471,265/415,282/432	37922495	5,13001	2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922495C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1078G>A	17.37:g.37922495C>T	ENSP00000344544:p.Glu360Lys					IKZF3_ENST00000583368.1_Missense_Mutation_p.E113K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E139K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E321K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E282K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E273K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E321K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E326K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E178K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E304K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E265K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E226K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E217K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E287K	p.E360K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1139	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		360					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1078G>A	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.566167|2.566167	0.45694|0.45694	0.0|0.0	5.81E-4|5.81E-4	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.08370|.	3.57;3.56;3.3;3.1;3.79;3.37;3.44;3.48;3.36;4.4|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.197142|.	0.35235|.	N|.	0.003347|.	T|.	0.76392|.	0.3981|.	M|M	0.70595|0.70595	2.14|2.14	0.38585|0.38585	D|D	0.950285|0.950285	P;P;P;P;P;B;P;P;B;B;P;P;B|.	0.48911|.	0.835;0.649;0.675;0.787;0.915;0.427;0.64;0.917;0.141;0.12;0.765;0.853;0.325|.	B;B;B;B;P;B;B;D;B;B;B;P;B|.	0.63488|.	0.397;0.164;0.164;0.273;0.574;0.287;0.392;0.915;0.098;0.149;0.392;0.547;0.103|.	T|.	0.76113|.	-0.3078|.	10|.	0.13470|.	T|.	0.59|.	-7.8956|-7.8956	19.8646|19.8646	0.96799|0.96799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;139;178;226;217;326;282;265;321;304;321;287;360|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	K|X	360;265;226;178;217;273;139;326;321;282;321;304|274;313	ENSP00000367180:E226K;ENSP00000377741:E178K;ENSP00000367179:E217K;ENSP00000367194:E273K;ENSP00000367188:E139K;ENSP00000438972:E326K;ENSP00000345622:E321K;ENSP00000341977:E282K;ENSP00000344471:E321K;ENSP00000420463:E304K|.	ENSP00000341977:E282K|.	E|W	-|-	1|3	0|0	IKZF3|IKZF3	35176021|35176021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.583000|4.583000	0.60964|0.60964	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.562	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		43	79	0	0	0	1	0	43	79				
QRICH2	84074	broad.mit.edu	37	17	74274102	74274102	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:74274102G>A	ENST00000262765.5	-	15	4766	c.4587C>T	c.(4585-4587)caC>caT	p.H1529H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1529										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGCACTGGGCGTGCAGCAGCT	0.622																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4585-4587)caC>caT		glutamine rich 2							60.0	63.0	62.0					17																	74274102		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74274102G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4587C>T	17.37:g.74274102G>A							p.H1529H	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			15	4766	-			1529					A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.4587C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	1.705	-0.500584	0.04291	.	.	ENSG00000129646	ENST00000532549	.	.	.	5.51	-2.11	0.07187	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49283	-0.8956	4	.	.	.	-4.1181	9.6123	0.39670	0.3466:0.3044:0.349:0.0	.	.	.	.	M	177	.	.	T	-	2	0	QRICH2	71785697	0.022000	0.18835	0.289000	0.24876	0.148000	0.21650	-0.130000	0.10498	-0.585000	0.05905	-0.540000	0.04249	ACG		0.622	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		32	62	0	0	0	1	0	32	62				
HLA-DQA2	3118	broad.mit.edu	37	6	32713600	32713600	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:32713600C>A	ENST00000374940.3	+	3	466	c.364C>A	c.(364-366)Cct>Act	p.P122T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTCCAAGTTTCCTGTGACGCT	0.507																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(364-366)Cct>Act		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						182.0	142.0	156.0					6																	32713600		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713600C>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.364C>A	6.37:g.32713600C>A	ENSP00000364076:p.Pro122Thr						p.P122T	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	466	+			122			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.364C>A	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.749	1.167038	0.21621	.	.	ENSG00000237541	ENST00000374940	T	0.03035	4.07	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.262799	0.32328	U	0.006247	T	0.11623	0.0283	M	0.88775	2.98	0.19575	N	0.999969	D	0.89917	1.0	D	0.97110	1.0	T	0.01608	-1.1313	10	0.87932	D	0	.	11.8979	0.52665	0.0:1.0:0.0:0.0	.	122	P01906	DQA2_HUMAN	T	122	ENSP00000364076:P122T	ENSP00000364076:P122T	P	+	1	0	HLA-DQA2	32821578	0.051000	0.20477	0.785000	0.31869	0.044000	0.14063	1.679000	0.37597	1.700000	0.51204	0.174000	0.16983	CCT		0.507	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		34	68	1	0	1.26612e-14	1	1.35404e-14	34	68				
PAX1	5075	broad.mit.edu	37	20	21687046	21687046	+	Intron	SNP	C	C	T	rs367605674|rs112306597	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:21687046C>T	ENST00000398485.2	+	2	340				PAX1_ENST00000444366.2_Missense_Mutation_p.S62F|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTCTCCCCCTCCGGCTCACTC	0.662																																						ENST00000444366.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(184-186)tCc>tTc		paired box 1		C		3,4179		0,3,2088	26.0	30.0	29.0			0.3	0.0	20	dbSNP_132	29	0,8414		0,0,4207	no	intron	PAX1	NM_006192.3		0,3,6295	TT,TC,CC		0.0,0.0717,0.0238			21687046	3,12593	2091	4207	6298	SO:0001627	intron_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687046C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.287-30C>T	20.37:g.21687046C>T						PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron	p.S62F			P15863	PAX1_HUMAN			1	186	+			85					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.185C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780225	0.31502	7.17E-4	0.0	ENSG00000125813	ENST00000444366	D	0.98280	-4.84	4.69	0.287	0.15714	.	.	.	.	.	D	0.95079	0.8406	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89855	0.4012	8	0.59425	D	0.04	.	6.1574	0.20346	0.128:0.5765:0.0:0.2955	.	62	P15863-2	.	F	62	ENSP00000410355:S62F	ENSP00000410355:S62F	S	+	2	0	PAX1	21635046	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.676000	0.25247	0.121000	0.18284	0.549000	0.68633	TCC		0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			24	67	0	0	0	1	0	24	67				
CCDC88C	440193	broad.mit.edu	37	14	91749741	91749741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:91749741G>C	ENST00000389857.6	-	26	4648	c.4562C>G	c.(4561-4563)tCa>tGa	p.S1521*	CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.S45*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1521					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCTGAAGTTGAGCAAGTCCG	0.652																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4561-4563)tCa>tGa		coiled-coil domain containing 88C							43.0	54.0	50.0					14																	91749741		2035	4183	6218	SO:0001587	stop_gained	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91749741G>C		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4562C>G	14.37:g.91749741G>C	ENSP00000374507:p.Ser1521*					CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.S45*	p.S1521*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			26	4648	-		all_cancers(154;0.0468)	1521					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Nonsense_Mutation	SNP	ENST00000389857.6	37	c.4562C>G	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	43	9.916136	0.99294	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	.	.	.	5.26	5.26	0.73747	.	0.182918	0.26481	U	0.024122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.5637	17.0801	0.86596	0.0:0.0:1.0:0.0	.	.	.	.	X	1521;45;45	.	ENSP00000330332:S45X	S	-	2	0	CCDC88C	90819494	1.000000	0.71417	0.213000	0.23690	0.013000	0.08279	6.780000	0.75063	2.467000	0.83353	0.563000	0.77884	TCA		0.652	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		10	23	0	0	0	1	0	10	23				
ANKMY1	51281	broad.mit.edu	37	2	241451335	241451335	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:241451335C>T	ENST00000272972.3	-	10	2176	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	ANKMY1_ENST00000391987.1_Silent_p.P654P|ANKMY1_ENST00000373320.4_Silent_p.P424P|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.P415P|ANKMY1_ENST00000373318.2_Silent_p.P513P|ANKMY1_ENST00000403283.1_Silent_p.P592P|ANKMY1_ENST00000401804.1_Silent_p.P743P	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	654							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCCCCTCCTCCGGGAGGGCTG	0.667																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(1960-1962)ccG>ccA		ankyrin repeat and MYND domain containing 1							53.0	54.0	54.0					2																	241451335		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241451335C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1962G>A	2.37:g.241451335C>T						ANKMY1_ENST00000272972.3_Silent_p.P654P|ANKMY1_ENST00000401804.1_Silent_p.P743P|ANKMY1_ENST00000373318.2_Silent_p.P513P|ANKMY1_ENST00000373320.4_Silent_p.P424P|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.P415P|ANKMY1_ENST00000403283.1_Silent_p.P592P	p.P654P			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	11	2328	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	654					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.1962G>A	CCDS2536.1																																																																																				0.667	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		32	43	0	0	0	1	0	32	43				
TRAM1L1	133022	broad.mit.edu	37	4	118005805	118005805	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr4:118005805C>T	ENST00000310754.4	-	1	931	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	249	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGATATGCCTTTCTGGTAC	0.413																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(745-747)Ggc>Agc		translocation associated membrane protein 1-like 1							69.0	69.0	69.0					4																	118005805		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005805C>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.745G>A	4.37:g.118005805C>T	ENSP00000309402:p.Gly249Ser						p.G249S	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	931	-			249			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.745G>A	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201702	0.38905	.	.	ENSG00000174599	ENST00000310754	D	0.84516	-1.86	3.99	3.99	0.46301	TRAM/LAG1/CLN8 homology domain (3);	0.436730	0.25484	N	0.030360	D	0.84220	0.5424	N	0.25485	0.75	0.80722	D	1	P	0.46220	0.874	P	0.59825	0.864	T	0.78625	-0.2131	10	0.12766	T	0.61	-6.4121	14.3973	0.67020	0.0:1.0:0.0:0.0	.	249	Q8N609	TR1L1_HUMAN	S	249	ENSP00000309402:G249S	ENSP00000309402:G249S	G	-	1	0	TRAM1L1	118225253	1.000000	0.71417	0.542000	0.28115	0.420000	0.31355	3.456000	0.53000	2.506000	0.84524	0.655000	0.94253	GGC		0.413	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		17	44	0	0	0	1	0	17	44				
FAM160A2	84067	broad.mit.edu	37	11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:6233023C>T	ENST00000449352.2	-	12	2895	c.2632G>A	c.(2632-2634)Gca>Aca	p.A878T	FAM160A2_ENST00000265978.4_Missense_Mutation_p.A892T|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627																																						ENST00000265978.4																			1	Substitution - Missense(1)	p.A892T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2674-2676)Gca>Aca		family with sequence similarity 160, member A2							77.0	88.0	84.0					11																	6233023		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6233023C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2632G>A	11.37:g.6233023C>T	ENSP00000416918:p.Ala878Thr					FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T	p.A892T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			12	3032	-			878					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2674G>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699408	0.48307	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09255	3.0;3.0	5.29	4.38	0.52667	.	0.114837	0.64402	N	0.000019	T	0.12347	0.0300	L	0.53249	1.67	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.30716	0.119;0.008	T	0.05886	-1.0858	10	0.13470	T	0.59	3.2753	12.4312	0.55575	0.0:0.918:0.0:0.082	.	878;892	Q8N612;Q8N612-2	F16A2_HUMAN;.	T	878;892	ENSP00000416918:A878T;ENSP00000265978:A892T	ENSP00000265978:A892T	A	-	1	0	FAM160A2	6189599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.423000	0.66458	1.229000	0.43630	0.650000	0.86243	GCA		0.627	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		5	306	0	0	0	1	0	5	306				
KRT17	3872	broad.mit.edu	37	17	39780690	39780690	+	Silent	SNP	C	C	T	rs536792008	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:39780690C>T	ENST00000311208.8	-	1	139	c.72G>A	c.(70-72)tcG>tcA	p.S24S	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	24	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTGCGGGACGAGCCGCCCC	0.716													t|||	2	0.000399361	0.0008	0.0	5008	,	,		13117	0.001		0.0	False		,,,				2504	0.0				Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(70-72)tcG>tcA		keratin 17																																				SO:0001819	synonymous_variant	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780690C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.72G>A	17.37:g.39780690C>T						JUP_ENST00000540235.1_Intron	p.S24S	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN			1	139	-		Breast(137;0.000307)	24			Head.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.72G>A	CCDS11402.1																																																																																				0.716	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		12	14	0	0	0	1	0	12	14				
CYLD	1540	broad.mit.edu	37	16	50811808	50811808	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:50811808C>G	ENST00000427738.3	+	7	1299	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	CYLD_ENST00000569418.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S365*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.S365*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S362*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	365	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTGACTCACAACCACAA	0.318			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1093-1095)tCa>tGa		cylindromatosis (turban tumor syndrome)							95.0	88.0	90.0					16																	50811808		1809	4058	5867	SO:0001587	stop_gained	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811808C>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1094C>G	16.37:g.50811808C>G	ENSP00000392025:p.Ser365*					CYLD_ENST00000427738.3_Nonsense_Mutation_p.S365*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S365*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S362*	p.S365*			Q9NQC7	CYLD_HUMAN			8	1509	+		all_cancers(37;0.0156)	365			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.1094C>G	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	38	6.721070	0.97788	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	5.57	0.84162	.	0.126685	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.5356	19.9074	0.97013	0.0:1.0:0.0:0.0	.	.	.	.	X	365;365;362;362	.	ENSP00000308928:S365X	S	+	2	0	CYLD	49369309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.372000	0.52387	2.768000	0.95171	0.650000	0.86243	TCA		0.318	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			18	18	0	0	0	1	0	18	18				
PCDHGA2	56113	broad.mit.edu	37	5	140719975	140719975	+	Silent	SNP	C	C	T	rs141955016	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:140719975C>T	ENST00000394576.2	+	1	1437	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGACCCCGACAGCAACG	0.547													c|||	8	0.00159744	0.0	0.0	5008	,	,		19017	0.0		0.006	False		,,,				2504	0.002					ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1435-1437)ccC>ccT				C	,,	7,4399		0,7,2196	97.0	102.0	101.0		,1437,1437	-10.5	0.0	5	dbSNP_134	101	83,8517		0,83,4217	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,90,6413	TT,TC,CC		0.9651,0.1589,0.692	,,	,479/933,479/824	140719975	90,12916	2203	4300	6503	SO:0001819	synonymous_variant	56113							g.chr5:140719975C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1437C>T	5.37:g.140719975C>T						PCDHGA1_ENST00000517417.1_Intron	p.P479P	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1437	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1437C>T	CCDS47289.1																																																																																				0.547	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		40	110	0	0	0	1	0	40	110				
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	lincRNA	SNP	T	T	C	rs80149641		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323																																						ENST00000423385.1																			0																																																			0							g.chr1:142803493T>C																													1.37:g.142803493T>C														0	1472	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.323	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	63	0	0	0	1	0	4	63				
TEAD2	8463	broad.mit.edu	37	19	49863257	49863257	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:49863257C>A	ENST00000311227.2	-	2	166	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000598810.1_Missense_Mutation_p.G26C|TEAD2_ENST00000593945.1_Missense_Mutation_p.G26C|TEAD2_ENST00000377214.4_Missense_Mutation_p.G26C|AC010524.4_ENST00000596488.1_RNA|DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000601519.1_Missense_Mutation_p.G26C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	26					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCGCCGGTACCCTCCTCACTG	0.697																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(76-78)Ggt>Tgt		TEA domain family member 2							34.0	44.0	41.0					19																	49863257		2203	4298	6501	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49863257C>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.76G>T	19.37:g.49863257C>A	ENSP00000310701:p.Gly26Cys					TEAD2_ENST00000593945.1_Missense_Mutation_p.G26C|TEAD2_ENST00000598810.1_Missense_Mutation_p.G26C|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000311227.2_Missense_Mutation_p.G26C|TEAD2_ENST00000601519.1_Missense_Mutation_p.G26C	p.G26C			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	1	438	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	26					B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.76G>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251362	0.80135	.	.	ENSG00000074219	ENST00000311227;ENST00000377214	T;T	0.35236	1.32;1.32	5.14	5.14	0.70334	.	0.180711	0.38837	N	0.001543	T	0.45816	0.1361	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.32903	-0.9889	10	0.56958	D	0.05	-22.2063	10.3329	0.43833	0.0:0.9088:0.0:0.0912	.	26;26	Q15562;Q8NA25	TEAD2_HUMAN;.	C	26	ENSP00000310701:G26C;ENSP00000366419:G26C	ENSP00000310701:G26C	G	-	1	0	TEAD2	54555069	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	1.589000	0.36644	2.785000	0.95823	0.655000	0.94253	GGT		0.697	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		35	90	1	0	2.75727e-19	1	3.033e-19	35	90				
GPR112	139378	broad.mit.edu	37	X	135405238	135405238	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:135405238G>C	ENST00000394143.1	+	5	663	c.372G>C	c.(370-372)ttG>ttC	p.L124F	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.L61F|GPR112_ENST00000370652.1_Missense_Mutation_p.L124F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	124					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCTTGATATGGGATG	0.438																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(370-372)ttG>ttC		G protein-coupled receptor 112							166.0	149.0	154.0					X																	135405238		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405238G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.372G>C	X.37:g.135405238G>C	ENSP00000377699:p.Leu124Phe					GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.L61F|GPR112_ENST00000370652.1_Missense_Mutation_p.L124F	p.L124F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	663	+	Acute lymphoblastic leukemia(192;0.000127)		124					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.372G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937395	0.52972	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.65178	-0.14;-0.14;-0.14	5.62	3.82	0.43975	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.71467	0.3343	L	0.59436	1.845	0.19775	N	0.999957	D	0.89917	1.0	D	0.91635	0.999	T	0.59878	-0.7371	9	0.72032	D	0.01	.	5.2321	0.15428	0.1661:0.1814:0.6525:0.0	.	124	Q8IZF6	GP112_HUMAN	F	124;124;61	ENSP00000377699:L124F;ENSP00000359686:L124F;ENSP00000287534:L61F	ENSP00000287534:L61F	L	+	3	2	GPR112	135232904	0.479000	0.25925	0.997000	0.53966	0.913000	0.54294	0.734000	0.26101	2.349000	0.79799	0.513000	0.50165	TTG		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			65	91	0	0	0	1	0	65	91				
CDIP1	29965	broad.mit.edu	37	16	4563017	4563017	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:4563017G>A	ENST00000399599.3	-	4	838	c.290C>T	c.(289-291)cCa>cTa	p.P97L	CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000563332.2_Missense_Mutation_p.P97L|CDIP1_ENST00000567695.1_Missense_Mutation_p.P97L|CDIP1_ENST00000564828.1_Intron			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	97	Pro-rich.				apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											GTAGGGCCCTGGGGGGTAGTA	0.667																																						ENST00000399599.3																			0											c.(289-291)cCa>cTa		cell death-inducing p53 target 1							9.0	10.0	9.0					16																	4563017		1819	4043	5862	SO:0001583	missense	29965							g.chr16:4563017G>A	AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"""cell death involved p53-target"", ""lipopolysaccharide-induced TNF factor-like"""	610503	"""chromosome 16 open reading frame 5"""	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.290C>T	16.37:g.4563017G>A	ENSP00000382508:p.Pro97Leu					CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000567695.1_Missense_Mutation_p.P97L|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000563332.2_Missense_Mutation_p.P97L	p.P97L							4	838	-								A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Missense_Mutation	SNP	ENST00000399599.3	37	c.290C>T	CCDS42114.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538300	0.85917	.	.	ENSG00000089486	ENST00000399599	D	0.89123	-2.47	5.43	5.43	0.79202	.	0.641780	0.16675	N	0.204195	D	0.83036	0.5167	N	0.24115	0.695	0.80722	D	1	B	0.27823	0.19	B	0.24701	0.055	T	0.79420	-0.1811	10	0.45353	T	0.12	-7.9065	16.7763	0.85551	0.0:0.0:1.0:0.0	.	97	Q9H305	LITFL_HUMAN	L	97	ENSP00000382508:P97L	ENSP00000382508:P97L	P	-	2	0	C16orf5	4503018	0.976000	0.34144	0.500000	0.27589	0.981000	0.71138	5.462000	0.66707	2.824000	0.97209	0.655000	0.94253	CCA		0.667	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399		13	14	0	0	0	1	0	13	14				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	46	0	0	0	1	0	4	46				
TTC31	64427	broad.mit.edu	37	2	74718497	74718497	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:74718497G>C	ENST00000233623.5	+	7	686	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	TTC31_ENST00000410003.1_Missense_Mutation_p.E227Q|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.E83Q	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	227										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTGTGGTGAAGAAGAGGTGAG	0.527																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(679-681)Gaa>Caa		tetratricopeptide repeat domain 31							137.0	147.0	144.0					2																	74718497		1936	4126	6062	SO:0001583	missense	64427						binding	g.chr2:74718497G>C	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.679G>C	2.37:g.74718497G>C	ENSP00000233623:p.Glu227Gln					TTC31_ENST00000233623.5_Missense_Mutation_p.E227Q|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.E83Q	p.E227Q			Q49AM3	TTC31_HUMAN			7	688	+			227					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.679G>C	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290234	0.40494	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.64085	1.35;0.22;-0.08	4.31	3.43	0.39272	.	0.000000	0.49916	D	0.000129	T	0.64681	0.2620	L	0.29908	0.895	0.29573	N	0.849741	D;D;D;D	0.71674	0.998;0.998;0.997;0.996	D;D;P;P	0.78314	0.948;0.991;0.888;0.897	T	0.59847	-0.7377	10	0.54805	T	0.06	.	8.0532	0.30589	0.1115:0.0:0.8885:0.0	.	83;197;227;156	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	Q	156;227;227;83;227	ENSP00000387213:E227Q;ENSP00000416823:E83Q;ENSP00000233623:E227Q	ENSP00000233623:E227Q	E	+	1	0	TTC31	74572005	0.960000	0.32886	0.991000	0.47740	0.186000	0.23388	2.120000	0.41968	1.174000	0.42811	0.561000	0.74099	GAA		0.527	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		61	114	0	0	0	1	0	61	114				
TBX15	6913	broad.mit.edu	37	1	119427568	119427568	+	Silent	SNP	C	C	T	rs574411651		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:119427568C>T	ENST00000369429.3	-	8	1605	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	TBX15_ENST00000207157.3_Silent_p.P426P			Q96SF7	TBX15_HUMAN	T-box 15	532					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCAGTTTTTCCGGGCTTGCAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20436	0.0		0.001	False		,,,				2504	0.0					ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1594-1596)ccG>ccA		T-box 15							92.0	85.0	88.0					1																	119427568		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427568C>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1596G>A	1.37:g.119427568C>T						TBX15_ENST00000207157.3_Silent_p.P426P	p.P532P			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1605	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	532					Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.1596G>A																																																																																					0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		17	28	0	0	0	1	0	17	28				
LTBR	4055	broad.mit.edu	37	12	6500033	6500033	+	Missense_Mutation	SNP	C	C	T	rs541718272		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:6500033C>T	ENST00000228918.4	+	10	1564	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	LTBR_ENST00000541102.1_Missense_Mutation_p.A270V|LTBR_ENST00000539925.1_Missense_Mutation_p.A394V	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	413					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGGCACCTAGCGGAGACAGAG	0.597																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1237-1239)gCg>gTg		lymphotoxin beta receptor (TNFR superfamily, member 3)							103.0	112.0	109.0					12																	6500033		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6500033C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1238C>T	12.37:g.6500033C>T	ENSP00000228918:p.Ala413Val					LTBR_ENST00000539925.1_Missense_Mutation_p.A394V|LTBR_ENST00000541102.1_Missense_Mutation_p.A270V	p.A413V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			10	1564	+			413					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.1238C>T	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748412	0.69533	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	T;T;T	0.40476	1.03;1.03;1.03	4.5	4.5	0.54988	.	0.501998	0.18295	N	0.145585	T	0.52500	0.1738	L	0.34521	1.04	0.35565	D	0.804984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.995	T	0.63175	-0.6696	10	0.87932	D	0	-16.3034	12.5616	0.56283	0.0:1.0:0.0:0.0	.	394;394;413	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	394;413;306;270	ENSP00000440875:A394V;ENSP00000228918:A413V;ENSP00000438605:A270V	ENSP00000228918:A413V	A	+	2	0	LTBR	6370294	0.992000	0.36948	0.997000	0.53966	0.575000	0.36095	3.576000	0.53878	2.338000	0.79540	0.561000	0.74099	GCG		0.597	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			83	182	0	0	0	1	0	83	182				
MAD2L2	10459	broad.mit.edu	37	1	11734849	11734849	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:11734849C>T	ENST00000235310.3	-	11	1547	c.619G>A	c.(619-621)Gct>Act	p.A207T	MAD2L2_ENST00000376669.5_Missense_Mutation_p.A220T|MAD2L2_ENST00000376672.1_Missense_Mutation_p.A220T|MAD2L2_ENST00000376667.3_Missense_Mutation_p.A207T|MAD2L2_ENST00000376692.4_Missense_Mutation_p.A207T			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	207	Mediates interaction with ipaB.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTATGAGCGCGCTCTTCC	0.612								DNA polymerases (catalytic subunits)																														ENST00000235310.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(619-621)Gct>Act	DNA polymerases (catalytic subunits)	MAD2 mitotic arrest deficient-like 2 (yeast)							84.0	78.0	80.0					1																	11734849		2203	4300	6503	SO:0001583	missense	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11734849C>T	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.619G>A	1.37:g.11734849C>T	ENSP00000235310:p.Ala207Thr					MAD2L2_ENST00000376692.4_Missense_Mutation_p.A207T|MAD2L2_ENST00000376667.3_Missense_Mutation_p.A207T|MAD2L2_ENST00000376669.5_Missense_Mutation_p.A220T|MAD2L2_ENST00000376672.1_Missense_Mutation_p.A220T	p.A207T			Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	11	1547	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	207			Mediates interaction with ipaB.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	c.619G>A	CCDS134.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694943	0.30052	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667	.	.	.	5.18	5.18	0.71444	DNA-binding HORMA (1);	0.224784	0.46145	D	0.000315	T	0.37571	0.1008	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	9	0.14252	T	0.57	-11.3153	17.2517	0.87044	0.0:1.0:0.0:0.0	.	207	Q9UI95	MD2L2_HUMAN	T	207;207;220;220;207	.	ENSP00000235310:A207T	A	-	1	0	MAD2L2	11657436	1.000000	0.71417	0.982000	0.44146	0.235000	0.25334	6.206000	0.72154	2.424000	0.82194	0.655000	0.94253	GCT		0.612	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		6	147	0	0	0	1	0	6	147				
SCN3B	55800	broad.mit.edu	37	11	123513292	123513292	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:123513292C>T	ENST00000392770.2	-	3	1109	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	SCN3B_ENST00000299333.3_Missense_Mutation_p.V103M|SCN3B_ENST00000530277.1_Missense_Mutation_p.V103M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	103	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGATGGACACGTCCTGCAGG	0.567																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(307-309)Gtg>Atg		sodium channel, voltage-gated, type III, beta subunit							97.0	90.0	92.0					11																	123513292		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513292C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.307G>A	11.37:g.123513292C>T	ENSP00000376523:p.Val103Met					SCN3B_ENST00000299333.3_Missense_Mutation_p.V103M|SCN3B_ENST00000530277.1_Missense_Mutation_p.V103M	p.V103M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	1109	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	103			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.307G>A	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629340	0.87560	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.111229	0.64402	D	0.000011	T	0.79650	0.4482	M	0.65498	2.005	0.58432	D	0.999996	D	0.69078	0.997	P	0.59115	0.852	T	0.79417	-0.1812	10	0.62326	D	0.03	-4.7556	20.5666	0.99351	0.0:1.0:0.0:0.0	.	103	Q9NY72	SCN3B_HUMAN	M	103	ENSP00000376523:V103M;ENSP00000299333:V103M;ENSP00000432785:V103M;ENSP00000435554:V103M	ENSP00000299333:V103M	V	-	1	0	SCN3B	123018502	0.996000	0.38824	0.993000	0.49108	0.996000	0.88848	3.697000	0.54764	2.854000	0.98071	0.655000	0.94253	GTG		0.567	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		35	98	0	0	0	1	0	35	98				
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A	rs181711461	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438													G|||	6	0.00119808	0.0	0.0029	5008	,	,		19283	0.004		0.0	False		,,,				2504	0.0					ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(2152-2154)gCg>gTg		zinc finger protein 615							177.0	180.0	179.0					19																	52496176		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496176G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2153C>T	19.37:g.52496176G>A	ENSP00000473089:p.Ala718Val					ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V	p.A718V			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2502	-		all_neural(266;0.117)	718					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.2153C>T	CCDS12846.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	0	0.0	G	10.96	1.499612	0.26861	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.04156	3.69;3.69	3.39	0.066	0.14359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21753	0.06;0.048;0.048;0.06	B;B;B;B	0.12156	0.007;0.004;0.004;0.007	T	0.48269	-0.9050	9	0.10111	T	0.7	.	5.1987	0.15252	0.5192:0.0:0.4808:0.0	.	723;725;729;718	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	V	718;728;723;672	ENSP00000365906:A718V;ENSP00000375672:A723V	ENSP00000347019:A728V	A	-	2	0	ZNF615	57187988	0.000000	0.05858	0.177000	0.23020	0.904000	0.53231	-0.449000	0.06812	0.239000	0.21243	0.655000	0.94253	GCG		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		4	154	0	0	0	1	0	4	154				
SECISBP2	79048	broad.mit.edu	37	9	91972401	91972401	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:91972401A>T	ENST00000375807.3	+	15	2260	c.2189A>T	c.(2188-2190)aAc>aTc	p.N730I	SECISBP2_ENST00000339901.4_Missense_Mutation_p.N657I|SECISBP2_ENST00000534113.2_Missense_Mutation_p.N662I	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	730					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTTGCTCTCAACCGCAAAGCT	0.502																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2188-2190)aAc>aTc		SECIS binding protein 2							238.0	218.0	225.0					9																	91972401		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972401A>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2189A>T	9.37:g.91972401A>T	ENSP00000364965:p.Asn730Ile					SECISBP2_ENST00000534113.2_Missense_Mutation_p.N662I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N657I	p.N730I	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			15	2260	+			730					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2189A>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836315	0.71373	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.53	4.53	0.55603	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.172395	0.53938	D	0.000057	T	0.68550	0.3013	L	0.43152	1.355	0.35901	D	0.830415	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77233	-0.2663	10	0.72032	D	0.01	-25.1153	14.2979	0.66327	1.0:0.0:0.0:0.0	.	737;657;730	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	I	730;736;657;662	ENSP00000364965:N730I;ENSP00000364959:N657I;ENSP00000436650:N662I	ENSP00000364959:N657I	N	+	2	0	SECISBP2	91162221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.878000	0.48515	2.027000	0.59764	0.454000	0.30748	AAC		0.502	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		91	184	0	0	0	1	0	91	184				
EMILIN2	84034	broad.mit.edu	37	18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2074-2076)aCg>aTg		elastin microfibril interfacer 2							103.0	109.0	107.0					18																	2892200		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892200C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2075C>T	18.37:g.2892200C>T	ENSP00000254528:p.Thr692Met						p.T692M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2234	+			692					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2075C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	2.165	-0.391175	0.04932	.	.	ENSG00000132205	ENST00000254528	T	0.34072	1.38	5.48	0.673	0.17941	.	1.012140	0.07909	N	0.973998	T	0.27278	0.0669	N	0.25426	0.745	0.09310	N	1	B	0.29531	0.247	B	0.26094	0.066	T	0.23190	-1.0195	10	0.44086	T	0.13	-1.9919	12.4774	0.55823	0.0:0.7032:0.0:0.2968	.	692	Q9BXX0	EMIL2_HUMAN	M	692	ENSP00000254528:T692M	ENSP00000254528:T692M	T	+	2	0	EMILIN2	2882200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.676000	0.25247	-0.173000	0.10761	-1.155000	0.01812	ACG		0.577	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		45	105	0	0	0	1	0	45	105				
CBFA2T2	9139	broad.mit.edu	37	20	32199035	32199035	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:32199035G>A	ENST00000346541.3	+	4	878	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R114Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R124Q|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R105Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGTGGTGCTCGACAACTCAGC	0.512																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(340-342)cGa>cAa		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							181.0	155.0	164.0					20																	32199035		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199035G>A	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.341G>A	20.37:g.32199035G>A	ENSP00000262653:p.Arg114Gln					CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R124Q|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.R105Q|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R114Q	p.R114Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			4	878	+			114			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.341G>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	36	5.779024	0.96929	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.54	5.54	0.83059	TAFH/NHR1 (2);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.983	T	0.68618	-0.5361	10	0.87932	D	0	-5.3704	19.4739	0.94976	0.0:0.0:1.0:0.0	.	114;105	O43439;F8W6D7	MTG8R_HUMAN;.	Q	114;105;105;85;114;85;85;124	ENSP00000364428:R114Q;ENSP00000345810:R105Q;ENSP00000408352:R105Q;ENSP00000341865:R85Q;ENSP00000262653:R114Q;ENSP00000380902:R85Q;ENSP00000380900:R85Q;ENSP00000352622:R124Q	ENSP00000345810:R105Q	R	+	2	0	CBFA2T2	31662696	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.603000	0.88011	0.655000	0.94253	CGA		0.512	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		7	131	0	0	0	1	0	7	131				
COL1A1	1277	broad.mit.edu	37	17	48268762	48268762	+	Silent	SNP	T	T	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:48268762T>C	ENST00000225964.5	-	32	2335	c.2217A>G	c.(2215-2217)ccA>ccG	p.P739P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	739	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTTAGGCCCTGGAAGACCAG	0.592			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(2215-2217)ccA>ccG		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						90.0	91.0	91.0					17																	48268762		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48268762T>C	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2217A>G	17.37:g.48268762T>C							p.P739P	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			32	2335	-			739			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.2217A>G	CCDS11561.1																																																																																				0.592	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			4	164	0	0	0	1	0	4	164				
CDC25B	994	broad.mit.edu	37	20	3782599	3782599	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:3782599G>A	ENST00000245960.5	+	10	1647	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	317					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGCCAGCGGCTCTTCCGC	0.642																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(949-951)cGg>cAg		cell division cycle 25B							27.0	25.0	26.0					20																	3782599		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782599G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.950G>A	20.37:g.3782599G>A	ENSP00000245960:p.Arg317Gln					CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q	p.R317Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			10	1647	+			317					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.950G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921611	0.73213	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.22	4.22	0.49857	.	0.194372	0.43747	D	0.000536	T	0.27629	0.0679	L	0.58810	1.83	0.43430	D	0.995593	P;P;P;P;P;D	0.54772	0.889;0.889;0.889;0.865;0.865;0.968	B;B;B;B;B;B	0.42959	0.204;0.204;0.204;0.129;0.129;0.403	T	0.06972	-1.0797	10	0.30854	T	0.27	-18.5498	14.8795	0.70522	0.0:0.0:1.0:0.0	.	226;239;253;276;303;317	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	253;226;317;303;276	ENSP00000339125:R253Q;ENSP00000368918:R226Q;ENSP00000245960:R317Q;ENSP00000405972:R303Q;ENSP00000339170:R276Q	ENSP00000245960:R317Q	R	+	2	0	CDC25B	3730599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.474000	0.35398	2.288000	0.76882	0.591000	0.81541	CGG		0.642	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		10	20	0	0	0	1	0	10	20				
EHD2	30846	broad.mit.edu	37	19	48244640	48244640	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:48244640G>A	ENST00000263277.3	+	6	1834	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.R392H	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	528	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AACCTGCCCCGTCGCCTGGTG	0.711																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1582-1584)cGt>cAt		EH-domain containing 2							15.0	15.0	15.0					19																	48244640		2199	4296	6495	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244640G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1583G>A	19.37:g.48244640G>A	ENSP00000263277:p.Arg528His					EHD2_ENST00000538399.1_Missense_Mutation_p.R392H|EHD2_ENST00000540884.1_3'UTR	p.R528H	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1834	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	528			EH.		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.1583G>A	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102493	0.37145	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.30448	1.53;1.53	3.88	2.73	0.32206	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.458793	0.19611	N	0.110124	T	0.20700	0.0498	L	0.31476	0.935	0.26198	N	0.979491	B	0.15930	0.015	B	0.18561	0.022	T	0.12116	-1.0560	9	.	.	.	-25.7836	10.7785	0.46363	0.0:0.1949:0.8051:0.0	.	528	Q9NZN4	EHD2_HUMAN	H	528;518;392;211	ENSP00000263277:R528H;ENSP00000439036:R392H	.	R	+	2	0	EHD2	52936452	0.118000	0.22208	0.998000	0.56505	0.968000	0.65278	1.058000	0.30504	1.886000	0.54624	0.462000	0.41574	CGT		0.711	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			11	12	0	0	0	1	0	11	12				
CNTFR	1271	broad.mit.edu	37	9	34557637	34557637	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:34557637C>A	ENST00000378980.3	-	6	784	c.491G>T	c.(490-492)tGc>tTc	p.C164F	CNTFR_ENST00000351266.4_Missense_Mutation_p.C164F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	164	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCGAATGTGGCAGCGGTTCTT	0.532																																						ENST00000378980.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15						c.(490-492)tGc>tTc		ciliary neurotrophic factor receptor							167.0	138.0	148.0					9																	34557637		2203	4300	6503	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34557637C>A	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.491G>T	9.37:g.34557637C>A	ENSP00000368265:p.Cys164Phe					CNTFR_ENST00000351266.4_Missense_Mutation_p.C164F	p.C164F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	6	784	-	all_epithelial(49;0.0899)		164			Fibronectin type-III 1.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.491G>T	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247717	0.80024	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.47869	0.83;0.83;0.83	5.52	5.52	0.82312	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.63843	1.955	0.40676	D	0.982265	D	0.65815	0.995	D	0.72982	0.979	T	0.70425	-0.4875	9	0.87932	D	0	.	16.9381	0.86208	0.0:1.0:0.0:0.0	.	164	P26992	CNTFR_HUMAN	F	164	ENSP00000368265:C164F;ENSP00000242338:C164F;ENSP00000388082:C164F	ENSP00000242338:C164F	C	-	2	0	CNTFR	34547637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.016000	0.76393	2.578000	0.87016	0.655000	0.94253	TGC		0.532	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			30	56	1	0	8.58068e-18	1	9.30581e-18	30	56				
HLA-V	352962	broad.mit.edu	37	6	29761783	29761784	+	RNA	INS	-	-	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:29761783_29761784insG	ENST00000457107.1	+	0	1009_1010									major histocompatibility complex, class I, V (pseudogene)																		ggattggtgcaaagccctgctt	0.55																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761783_29761784insG	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761783_29761784insG														0	1009_1010	+									RNA	INS	ENST00000457107.1	37																																																																																						0.550	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13341999	13341999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:13341999delC	ENST00000263038.4	-	1	102	c.44delG	c.(43-45)ggcfs	p.G15fs	PHYH_ENST00000396920.3_Intron|PHYH_ENST00000396913.2_5'Flank	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	15					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGAGGTGGCCCAGAACAAT	0.756																																						ENST00000263038.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(43-45)gcfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						3.0	5.0	4.0					10																	13341999		1622	3306	4928	SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13341999delC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.44delG	10.37:g.13341999delC	ENSP00000263038:p.Gly15fs					PHYH_ENST00000396920.3_Intron	p.G15fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN			1	102	-		Ovarian(717;0.0448)	15					A8MTS8|B1ALH5	Frame_Shift_Del	DEL	ENST00000263038.4	37	c.44delG	CCDS7097.1																																																																																				0.756	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			2	4						2	4	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	815293	815293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:815293delC	ENST00000382862.3	+	8	789	c.694delC	c.(694-696)cccfs	p.P233fs	MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs|MSLN_ENST00000566549.1_Frame_Shift_Del_p.P233fs|MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	233					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGCGGGGGACCCCCCTACGG	0.687																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(694-696)ccfs		mesothelin							5.0	6.0	6.0					16																	815293		2005	4032	6037	SO:0001589	frameshift_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815293delC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.694delC	16.37:g.815293delC	ENSP00000372313:p.Pro233fs					MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs	p.P233fs			Q13421	MSLN_HUMAN			8	1111	+		Hepatocellular(780;0.00335)	233					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Frame_Shift_Del	DEL	ENST00000382862.3	37	c.694delC	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			4	9						4	9	---	---	---	---
KRT26	353288	broad.mit.edu	37	17	38927945	38927948	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:38927945_38927948delTGAC	ENST00000335552.4	-	1	466_469	c.418_421delGTCA	c.(418-423)gtcatafs	p.VI140fs		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGATCTTCTATGACTGAGAAGTAT	0.417																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(418-423)tafs		keratin 26																																				SO:0001589	frameshift_variant	353288					intermediate filament	structural molecule activity	g.chr17:38927945_38927948delTGAC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.418_421delGTCA	17.37:g.38927945_38927948delTGAC	ENSP00000334798:p.Val140fs						p.VI140fs	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			1	466_469	-		Breast(137;0.00526)	140			Linker 1.|Rod.			Frame_Shift_Del	DEL	ENST00000335552.4	37	c.418_421delGTCA	CCDS11374.1																																																																																				0.417	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		23	74						23	74	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084384	26084384	+	RNA	DEL	T	T	-	rs373531723	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:26084384delT	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		AAAAAGTCAGTTTTAAACCAC	0.328													?|TTTT|TTT|unsure	52	0.0103834	0.003	0.0202	5008	,	,		17211	0.0		0.0308	False		,,,				2504	0.0031					ENST00000478176.1																			0																																																			149934							g.chr20:26084384delT	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084384delT								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.328	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	6						4	6	---	---	---	---
