#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
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		7	663	0	0	0	1	0	7	663				
PRSS23	11098	broad.mit.edu	37	11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	27						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGTGCCCCCTGGAAACCC	0.547																																						ENST00000280258.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(79-81)cCc>cTc		protease, serine, 23							121.0	121.0	121.0					11																	86518765		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86518765C>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.80C>T	11.37:g.86518765C>T	ENSP00000280258:p.Pro27Leu					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN			2	505	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	27					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.80C>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566037	0.13560	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.7	0.42460	.	0.620354	0.16980	N	0.191723	T	0.37544	0.1007	N	0.19112	0.55	0.43296	D	0.995288	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08249	-1.0731	8	.	.	.	-4.3818	7.5087	0.27560	0.658:0.2362:0.0:0.1058	.	27;27	B4E2J3;O95084	.;PRS23_HUMAN	L	27	.	.	P	+	2	0	PRSS23	86196413	0.106000	0.21978	0.692000	0.30179	0.844000	0.47949	0.285000	0.18883	0.647000	0.30713	0.655000	0.94253	CCC		0.547	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		100	348	0	0	0	1	0	100	348				
CKAP2L	150468	broad.mit.edu	37	2	113498574	113498574	+	Silent	SNP	A	A	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:113498574A>T	ENST00000302450.6	-	8	1911	c.1833T>A	c.(1831-1833)tcT>tcA	p.S611S	CKAP2L_ENST00000541405.1_Silent_p.S446S|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	611						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTAAAGAGTCAGAAGTAATCC	0.348																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1336-1338)tcT>tcA		cytoskeleton associated protein 2-like							140.0	128.0	132.0					2																	113498574		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113498574A>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1833T>A	2.37:g.113498574A>T						CKAP2L_ENST00000302450.6_Silent_p.S611S|NT5DC4_ENST00000327581.4_Intron	p.S446S			Q8IYA6	CKP2L_HUMAN			8	1861	-			611					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.1338T>A	CCDS2100.1																																																																																				0.348	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	359	0	0	0	1	0	5	359				
TREX2	11219	broad.mit.edu	37	X	152710707	152710707	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000334497.2	-	11	1452	c.311C>T	c.(310-312)aCg>aTg	p.T104M	TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	104					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCACAGCGTGAGCTTGTC	0.657								Editing and processing nucleases					G|||	2	0.000529801	0.0	0.0014	3775	,	,		11757	0.0		0.0	False		,,,				2504	0.001					ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(181-183)aCg>aTg	Editing and processing nucleases	three prime repair exonuclease 2							39.0	40.0	40.0					X																	152710707		2200	4298	6498	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710707G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.311C>T	X.37:g.152710707G>A	ENSP00000334993:p.Thr104Met					TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M	p.T61M			Q9BQ50	TREX2_HUMAN			13	1732	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.182C>T		.	.	.	.	.	.	.	.	.	.	G	15.24	2.773557	0.49786	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.04	5.04	0.67666	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.314529	0.22446	U	0.059948	T	0.41789	0.1174	M	0.64170	1.965	0.33352	D	0.571157	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56595	-0.7953	10	0.66056	D	0.02	-21.5773	10.799	0.46476	0.0:0.1874:0.8126:0.0	.	103;104	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	61;61;61;104;104;104;103;61	ENSP00000377442:T61M;ENSP00000333441:T61M;ENSP00000345218:T61M;ENSP00000334993:T104M;ENSP00000359252:T104M;ENSP00000386078:T104M;ENSP00000401692:T103M;ENSP00000359251:T61M	ENSP00000333441:T61M	T	-	2	0	TREX2	152363901	1.000000	0.71417	0.930000	0.37139	0.399000	0.30720	4.237000	0.58681	2.082000	0.62665	0.529000	0.55759	ACG		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		28	37	0	0	0	1	0	28	37				
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(103-105)Cgg>Tgg		caspase recruitment domain family, member 9							156.0	126.0	136.0					9																	139266428		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266428G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp					CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	268	-		Myeloproliferative disorder(178;0.0511)	35			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.103C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		6	566	0	0	0	1	0	6	566				
RYR2	6262	broad.mit.edu	37	1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165.0	161.0	162.0					1																	237586430		1934	4135	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237586430G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.887G>A	1.37:g.237586430G>A	ENSP00000355533:p.Arg296Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	p.R296Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	296			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.887G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	RYR2	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	481	0	0	0	1	0	15	481				
SCN1A	6323	broad.mit.edu	37	2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						151.0	137.0	141.0					2																	166900451		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900451C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1771G>A	2.37:g.166900451C>T	ENSP00000303540:p.Ala591Thr					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T	p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1788	-			591					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1771G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	SCN1A	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		62	242	0	0	0	1	0	62	242				
PCDHA7	56141	broad.mit.edu	37	5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(196-198)gCg>gTg									84.0	102.0	96.0					5																	140214165		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214165C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.197C>T	5.37:g.140214165C>T	ENSP00000436426:p.Ala66Val					PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A66V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	197	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.197C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.00226	-1.805	0.22511	N	0.999038	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40776	-0.9545	9	0.02654	T	1	.	10.1587	0.42838	0.0:0.1593:0.0:0.8407	.	66;66	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	66	ENSP00000436426:A66V;ENSP00000367365:A66V	ENSP00000367365:A66V	A	+	2	0	PCDHA7	140194349	0.300000	0.24435	0.998000	0.56505	0.148000	0.21650	3.486000	0.53215	0.121000	0.18284	-1.817000	0.00601	GCG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		165	586	0	0	0	1	0	165	586				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	15	129	0	0	0	1	0	15	129				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	224	0	0	0	1	0	6	224				
ABCB1	5243	broad.mit.edu	37	7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1097	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTTTGCCATCAAGCAGCTGA	0.453																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3289-3291)Gat>Tat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						66.0	64.0	64.0					7																	87138791		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138791C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3289G>T	7.37:g.87138791C>A	ENSP00000265724:p.Asp1097Tyr					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y	p.D1097Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3706	-	Esophageal squamous(14;0.00164)		1097			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3289G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009182	0.93346	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92199	-2.99;-2.99	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045706	0.85682	D	0.000000	D	0.96614	0.8895	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96715	0.9528	10	0.87932	D	0	-28.0757	19.1758	0.93602	0.0:1.0:0.0:0.0	.	1033;1097	B5AK60;P08183	.;MDR1_HUMAN	Y	878;1097;1033	ENSP00000265724:D1097Y;ENSP00000444095:D1033Y	ENSP00000265724:D1097Y	D	-	1	0	ABCB1	86976727	1.000000	0.71417	0.110000	0.21437	0.346000	0.29079	7.810000	0.86072	2.765000	0.95021	0.655000	0.94253	GAT		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		36	155	1	0	4.65686e-17	1	5.05489e-17	36	155				
SIRPA	140885	broad.mit.edu	37	20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(601-603)gTa>gCa		signal-regulatory protein alpha							184.0	161.0	169.0					20																	1902206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902206T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.602T>C	20.37:g.1902206T>C	ENSP00000351621:p.Val201Ala					SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	754	+			201		VG -> AR.	Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.602T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399729	0.01165	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00603	6.28;6.28;6.28	4.51	-3.63	0.04529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.260270	0.01824	N	0.034250	T	0.00300	0.0009	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.44375	-0.9332	10	0.09338	T	0.73	.	3.967	0.09436	0.6183:0.1704:0.1094:0.102	.	181;201;201	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	201	ENSP00000382941:V201A;ENSP00000348307:V201A;ENSP00000351621:V201A	ENSP00000348307:V201A	V	+	2	0	SIRPA	1850206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.348000	0.08286	-1.353000	0.01230	GTA		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	303	0	0	0	1	0	4	303				
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	T	C	rs538144502	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21476689T>C	ENST00000356929.3	-	4	1276	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363													T|||	4	0.000798722	0.0	0.0029	5008	,	,		20368	0.001		0.001	False		,,,				2504	0.0					ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1078-1080)gAa>gGa		zinc finger protein 708							51.0	54.0	53.0					19																	21476689		2199	4296	6495	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476689T>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1079A>G	19.37:g.21476689T>C	ENSP00000349401:p.Glu360Gly						p.E360G	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1276	-			360					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1079A>G	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.175879	0.00312	.	.	ENSG00000182141	ENST00000356929	T	0.11821	2.74	0.428	-0.855	0.10700	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.00630	-1.315	0.25198	N	0.990078	B	0.09022	0.002	B	0.04013	0.001	T	0.40270	-0.9572	9	0.02654	T	1	.	8.3509	0.32301	0.0:0.7791:0.0:0.2209	.	360	P17019	ZN708_HUMAN	G	360	ENSP00000349401:E360G	ENSP00000349401:E360G	E	-	2	0	ZNF708	21268529	0.000000	0.05858	0.034000	0.17996	0.027000	0.11550	0.367000	0.20382	-1.351000	0.02197	-1.371000	0.01190	GAA		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		6	409	0	0	0	1	0	6	409				
MUC17	140453	broad.mit.edu	37	7	100684301	100684301	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:100684301A>C	ENST00000306151.4	+	3	9668	c.9604A>C	c.(9604-9606)Act>Cct	p.T3202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3202	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGCCACTTCATCTAC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9604-9606)Act>Cct		mucin 17, cell surface associated							286.0	290.0	289.0					7																	100684301		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684301A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9604A>C	7.37:g.100684301A>C	ENSP00000302716:p.Thr3202Pro						p.T3202P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9668	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3202			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9604A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	6.166	0.398770	0.11696	.	.	ENSG00000169876	ENST00000306151	T	0.01947	4.54	1.34	0.00753	0.14071	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.44108	0.441	T	0.50882	-0.8775	9	0.31617	T	0.26	.	4.9519	0.14019	0.8088:0.0:0.1912:0.0	.	3202	Q685J3	MUC17_HUMAN	P	3202	ENSP00000302716:T3202P	ENSP00000302716:T3202P	T	+	1	0	MUC17	100471021	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.077000	0.11394	0.014000	0.14944	0.102000	0.15555	ACT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1031	0	0	0	1	0	8	1031				
ZNF347	84671	broad.mit.edu	37	19	53644061	53644061	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:53644061C>T	ENST00000334197.7	-	5	2088	c.2020G>A	c.(2020-2022)Gtt>Att	p.V674I	ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000452676.2_Missense_Mutation_p.V675I|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGAACTCTCCGATGT	0.423																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2023-2025)Gtt>Att		zinc finger protein 347							160.0	146.0	151.0					19																	53644061		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644061C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2020G>A	19.37:g.53644061C>T	ENSP00000334146:p.Val674Ile					ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I|ZNF347_ENST00000601804.1_Intron	p.V675I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2449	-			674					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2023G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427580	0.01117	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07688	3.17;3.17	3.01	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.10645	0.015	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.44097	-0.9350	9	0.02654	T	1	.	4.6709	0.12689	0.0:0.2991:0.1577:0.5431	.	675;674	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	674;675	ENSP00000334146:V674I;ENSP00000405218:V675I	ENSP00000334146:V674I	V	-	1	0	ZNF347	58335873	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.544000	0.06077	-0.760000	0.04677	-0.290000	0.09829	GTT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	669	0	0	0	1	0	7	669				
OBP2B	29989	broad.mit.edu	37	9	136081792	136081792	+	Missense_Mutation	SNP	C	C	T	rs1132280	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081792C>T	ENST00000372034.3	-	5	441	c.400G>A	c.(400-402)Gat>Aat	p.D134N	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	134					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGGTTGGTATCAGAATTCCTA	0.612													C|||	3	0.000599042	0.0015	0.0	5008	,	,		15754	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(400-402)Gat>Aat		odorant binding protein 2B							79.0	74.0	76.0					9																	136081792		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081792C>T	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.400G>A	9.37:g.136081792C>T	ENSP00000361104:p.Asp134Asn					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.D134N	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	441	-			134					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.400G>A	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	C	8.370	0.835022	0.16820	.	.	ENSG00000171102	ENST00000372034	T	0.08458	3.09	2.38	0.442	0.16582	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	3.056560	0.01740	U	0.029337	T	0.09202	0.0227	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.18871	0.023	T	0.33650	-0.9860	10	0.38643	T	0.18	0.1732	4.4124	0.11439	0.0:0.6455:0.0:0.3545	rs1132280;rs3178138;rs3192932;rs17417810	134	Q9NPH6	OBP2B_HUMAN	N	134	ENSP00000361104:D134N	ENSP00000361104:D134N	D	-	1	0	OBP2B	135071613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.311000	0.19380	0.102000	0.17638	-0.259000	0.10710	GAT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		7	283	0	0	0	1	0	7	283				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	506	0	0	0	1	0	15	506				
RYR1	6261	broad.mit.edu	37	19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T	rs193922826		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000359596.3	+	50	8026	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2676	6 X approximate repeats.		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001). {ECO:0000269|PubMed:14732627, ECO:0000269|PubMed:16163667, ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCACCTCACACGGAAACTCTT	0.582																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM044255	RYR1	M		c.(8026-8028)Cgg>Tgg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						75.0	67.0	70.0					19																	38994959		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38994959C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8026C>T	19.37:g.38994959C>T	ENSP00000352608:p.Arg2676Trp					RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W	p.R2676W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		50	8157	+	all_cancers(60;7.91e-06)		2676		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001).	6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8026C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777859	0.31502	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	3.97	2.91	0.33838	.	0.000000	0.64402	U	0.000007	T	0.76140	0.3946	L	0.47716	1.5	0.37413	D	0.913321	D;D	0.89917	1.0;1.0	D;P	0.68483	0.958;0.908	T	0.79264	-0.1875	10	0.66056	D	0.02	.	10.2917	0.43599	0.3951:0.6049:0.0:0.0	rs28934001	2676;2676	P21817-2;P21817	.;RYR1_HUMAN	W	2676	ENSP00000352608:R2676W;ENSP00000347667:R2676W;ENSP00000354254:R2676W	ENSP00000347667:R2676W	R	+	1	2	RYR1	43686799	0.190000	0.23276	0.598000	0.28837	0.467000	0.32768	0.830000	0.27462	0.935000	0.37341	0.305000	0.20034	CGG		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			71	123	0	0	0	1	0	71	123				
MPHOSPH9	10198	broad.mit.edu	37	12	123682836	123682836	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	661						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAAGTGTTCTCACGCGACTAG	0.323																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1981-1983)gtG>gtA		M-phase phosphoprotein 9							60.0	57.0	58.0					12																	123682836		2203	4298	6501	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123682836C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1983G>A	12.37:g.123682836C>T						MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V	p.V661V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	12	2189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		509					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1983G>A																																																																																					0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			19	62	0	0	0	1	0	19	62				
GP1BA	2811	broad.mit.edu	37	17	4836037	4836037	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:4836037G>A	ENST00000329125.5	+	2	213	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	46	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAGACCTGCCGAAAGACACAA	0.552																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(136-138)ccG>ccA		glycoprotein Ib (platelet), alpha polypeptide							153.0	154.0	154.0					17																	4836037		2183	4286	6469	SO:0001819	synonymous_variant	2811							g.chr17:4836037G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.138G>A	17.37:g.4836037G>A							p.P46P	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	213	+			46					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.138G>A	CCDS54068.1																																																																																				0.552	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			5	485	0	0	0	1	0	5	485				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	226	0	0	0	1	0	6	226				
PRRT2	112476	broad.mit.edu	37	16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T	rs571941412	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000358758.7	+	2	743	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	154	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCCCAAGCCAGCCCTTCA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0031					ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(460-462)Cca>Tca		proline-rich transmembrane protein 2							29.0	33.0	32.0					16																	29824835		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824835C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.460C>T	16.37:g.29824835C>T	ENSP00000351608:p.Pro154Ser					PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron	p.P154S			Q7Z6L0	PRRT2_HUMAN			2	634	+			154			Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.460C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	6.452	0.451562	0.12223	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70516	-0.49;0.42	4.04	1.99	0.26369	.	0.279462	0.27696	N	0.018240	T	0.47060	0.1425	N	0.14661	0.345	0.21822	N	0.999527	B;B;B	0.24721	0.087;0.03;0.11	B;B;B	0.24006	0.02;0.009;0.05	T	0.32268	-0.9913	10	0.45353	T	0.12	-1.2862	3.9443	0.09341	0.0:0.5684:0.1969:0.2346	.	154;154;154	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	S	154	ENSP00000351608:P154S;ENSP00000300797:P154S	ENSP00000300797:P154S	P	+	1	0	PRRT2	29732336	0.006000	0.16342	0.199000	0.23439	0.760000	0.43138	2.130000	0.42064	0.443000	0.26582	0.563000	0.77884	CCA		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		32	99	0	0	0	1	0	32	99				
VEPH1	79674	broad.mit.edu	37	3	156978980	156978980	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAACTGCCACGTTGATGCACT	0.448																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2443-2445)aaC>aaT		ventricular zone expressed PH domain-containing 1							147.0	133.0	138.0					3																	156978980		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156978980G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2445C>T	3.37:g.156978980G>A						RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N	p.N815N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2752	-			815			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2445C>T	CCDS3179.1																																																																																				0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		77	236	0	0	0	1	0	77	236				
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	C	T	rs200710456		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	117					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21337	0.001		0.0	False		,,,				2504	0.0					ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.(349-351)taC>taT		cornichon family AMPA receptor auxiliary protein 3							172.0	132.0	146.0					1																	224922304		2203	4300	6503	SO:0001819	synonymous_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224922304C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.351C>T	1.37:g.224922304C>T							p.Y117Y	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	5	1233	+	Breast(184;0.218)		117						Silent	SNP	ENST00000272133.3	37	c.351C>T	CCDS1544.1																																																																																				0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		58	240	0	0	0	1	0	58	240				
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|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.A1006T(2)		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)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002					ENST00000463781.3																			2	Substitution - Missense(2)	p.A1006T(2)	endometrium(1)|kidney(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.(3016-3018)Gcc>Acc		mucin 4, cell surface associated							71.0	43.0	51.0					3																	195515435		692	1591	2283	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.chr3:195515435C>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.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr					MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.A1006T	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	3475	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1008			Repeat.|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.3016G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	29	0	0	0	1	0	3	29				
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	rs376402121		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(319-321)Atc>Gtc		phosphoribosyl pyrophosphate synthetase 1-like 1		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	145.0	148.0	147.0		319	4.5	0.5	7		147	0,8600		0,0,4300	no	missense	PRPS1L1	NM_175886.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	107/319	18067087	1,13005	2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067087T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.319A>G	7.37:g.18067087T>C	ENSP00000424595:p.Ile107Val						p.I107V	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		107					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.319A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	PRPS1L1	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		94	337	0	0	0	1	0	94	337				
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(1159-1161)aaA>aaG		zinc finger protein 79							75.0	72.0	73.0					9																	130207140		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207140A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1161A>G	9.37:g.130207140A>G						ZNF79_ENST00000543471.1_Silent_p.K363K	p.K387K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1567	+			387					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1161A>G	CCDS6871.1																																																																																				0.532	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		6	279	0	0	0	1	0	6	279				
IRS1	3667	broad.mit.edu	37	2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.5	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	298	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTCAGCCCCACCTGGCTG	0.687											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(892-894)Ggg>Agg		insulin receptor substrate 1							37.0	46.0	43.0					2																	227662563		2201	4297	6498	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662563C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.892G>A	2.37:g.227662563C>T	ENSP00000304895:p.Gly298Arg		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.G298R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1912	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	298			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.892G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000169047	ENST00000305123	T	0.70164	-0.46	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.82756	0.5106	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83805	0.0238	10	0.72032	D	0.01	-23.2391	19.7366	0.96208	0.0:1.0:0.0:0.0	.	298	P35568	IRS1_HUMAN	R	298	ENSP00000304895:G298R	ENSP00000304895:G298R	G	-	1	0	IRS1	227370807	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.667000	0.90743	0.462000	0.41574	GGG		0.687	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		79	328	0	0	0	1	0	79	328				
MYH7	4625	broad.mit.edu	37	14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	937					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGGCAGTGAGCTCAGCA	0.522																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2809-2811)Act>Gct		myosin, heavy chain 7, cardiac muscle, beta							242.0	202.0	215.0					14																	23893229		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893229T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2809A>G	14.37:g.23893229T>C	ENSP00000347507:p.Thr937Ala						p.T937A	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2971	-	all_cancers(95;2.54e-05)		937					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2809A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247429	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	5.33	5.33	0.75918	.	.	.	.	.	D	0.90003	0.6879	M	0.85777	2.775	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	D	0.87423	0.2383	9	0.44086	T	0.13	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	937	P12883	MYH7_HUMAN	A	937	ENSP00000347507:T937A	ENSP00000347507:T937A	T	-	1	0	MYH7	22963069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.241000	0.73720	0.533000	0.62120	ACT		0.522	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		99	357	0	0	0	1	0	99	357				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	201	0	0	0	1	0	4	201				
TAOK2	9344	broad.mit.edu	37	16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29989217G>A	ENST00000308893.4	+	2	1167	c.124G>A	c.(124-126)Gta>Ata	p.V42I	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I|TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGGAGCCGTATACTTTGT	0.532																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(124-126)Gta>Ata		TAO kinase 2							80.0	87.0	84.0					16																	29989217		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989217G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.124G>A	16.37:g.29989217G>A	ENSP00000310094:p.Val42Ile					TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I	p.V42I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1167	+			42			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.124G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153353	0.78114	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.59906	0.23;0.23;0.23	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.62365	0.991;0.966;0.972;0.986	P;P;P;P	0.59889	0.865;0.527;0.523;0.742	D	0.84765	0.0764	9	.	.	.	.	18.1978	0.89829	0.0:0.0:1.0:0.0	.	226;42;42;42	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	I	42	ENSP00000310094:V42I;ENSP00000440336:V42I;ENSP00000279394:V42I	.	V	+	1	0	TAOK2	29896718	1.000000	0.71417	0.996000	0.52242	0.565000	0.35776	9.349000	0.97066	2.668000	0.90789	0.655000	0.94253	GTA		0.532	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	471	0	0	0	1	0	5	471				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Agt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S	p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	108	0	0	0	1	0	26	108				
ZNF93	81931	broad.mit.edu	37	19	20045193	20045193	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:20045193G>A	ENST00000343769.5	+	4	1457	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AATTCATACTGGAGAGAAACC	0.373																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1429-1431)Gga>Aga		zinc finger protein 93							47.0	51.0	49.0					19																	20045193		2184	4264	6448	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045193G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1429G>A	19.37:g.20045193G>A	ENSP00000342002:p.Gly477Arg					AC007204.2_ENST00000592245.1_lincRNA	p.G477R	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1457	+			477					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1429G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.794169	0.31777	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.01629	4.72	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	L	0.43701	1.375	0.25318	N	0.98914	D	0.56746	0.977	D	0.65684	0.937	T	0.39396	-0.9616	9	0.59425	D	0.04	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	477	P35789	ZNF93_HUMAN	R	477;449	ENSP00000342002:G477R	ENSP00000342002:G477R	G	+	1	0	ZNF93	19906193	0.024000	0.19004	0.075000	0.20258	0.075000	0.17131	1.551000	0.36233	0.192000	0.20272	0.195000	0.17529	GGA		0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		6	479	0	0	0	1	0	6	479				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	363	0	0	0	1	0	6	363				
SLCO2B1	11309	broad.mit.edu	37	11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	671					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTAGTTTTGGCTGTCCTGAGG	0.542																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2011-2013)gCt>gTt		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						128.0	111.0	117.0					11																	74915507		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74915507C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2012C>T	11.37:g.74915507C>T	ENSP00000289575:p.Ala671Val					SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V	p.A671V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			14	2407	+			671					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.2012C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523235	0.04141	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.80304	0.35;-1.36;-1.36;-1.36;-1.36;0.35	5.6	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);	0.587955	0.17573	N	0.169406	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.15052	0.008;0.012;0.006	T	0.46386	-0.9195	10	0.27082	T	0.32	.	6.9803	0.24700	0.0:0.5805:0.0:0.4195	.	527;444;671	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	V	671;444;555;527;444;649	ENSP00000289575:A671V;ENSP00000341286:A444V;ENSP00000434112:A555V;ENSP00000436324:A527V;ENSP00000389653:A444V;ENSP00000388912:A649V	ENSP00000289575:A671V	A	+	2	0	SLCO2B1	74593155	0.046000	0.20272	0.272000	0.24630	0.055000	0.15305	-0.057000	0.11768	0.558000	0.29135	-0.253000	0.11424	GCT		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		5	354	0	0	0	1	0	5	354				
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					ENST00000332857.6																			0											c.(928-930)tgT>tgC		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730							g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G							p.C310C	NM_001145196.1	NP_001138668.1					4	958	-									Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	575	0	0	0	1	0	8	575				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			7	222	0	0	0	1	0	7	222				
ZNF43	7594	broad.mit.edu	37	19	21991811	21991811	+	Missense_Mutation	SNP	G	G	T	rs149679417		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21991811G>T	ENST00000354959.4	-	4	1197	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	ZNF43_ENST00000594012.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATGTGTAGGGTTT	0.383																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1009-1011)aCa>aAa		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991811G>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1028C>A	19.37:g.21991811G>T	ENSP00000347045:p.Thr343Lys					ZNF43_ENST00000354959.4_Missense_Mutation_p.T343K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K	p.T337K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1524	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	343					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1010C>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412760	0.00191	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.35973	1.28	1.76	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34625	-0.9821	9	0.02654	T	1	.	8.658	0.34075	0.0:0.0:0.6228:0.3772	.	343	P17038	ZNF43_HUMAN	K	342;343	ENSP00000347045:T343K	ENSP00000347045:T343K	T	-	2	0	ZNF43	21783651	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-0.689000	0.05149	-0.856000	0.03024	ACA		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	419	1	0	0.000157383	1	0.000161191	6	419				
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56.0	67.0	63.0					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	674	0	0	0	1	0	8	674				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	333	0	0	0	1	0	5	333				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			5	365	0	0	0	1	0	5	365				
ARC	23237	broad.mit.edu	37	8	143694625	143694625	+	Silent	SNP	G	G	A	rs367748647		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694625G>A	ENST00000356613.2	-	1	2208	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCGCAGGAAACGCTTGA	0.682																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1006-1008)ttC>ttT		activity-regulated cytoskeleton-associated protein		G		0,4406		0,0,2203	55.0	56.0	56.0		1008	1.9	1.0	8		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARC	NM_015193.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		336/397	143694625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694625G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1008C>T	8.37:g.143694625G>A							p.F336F	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2208	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	336					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1008C>T	CCDS34950.1																																																																																				0.682	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			73	344	0	0	0	1	0	73	344				
ZNF780A	284323	broad.mit.edu	37	19	40580912	40580912	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:40580912C>T	ENST00000595687.2	-	6	1646	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G	ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000450241.2_Silent_p.G445G|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.G479G	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAGGCCTTCCCACAGTCTT	0.423																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1333-1335)ggG>ggA		zinc finger protein 780A							120.0	115.0	117.0					19																	40580912		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580912C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1437G>A	19.37:g.40580912C>T						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000340963.5_Silent_p.G479G	p.G445G			O75290	Z780A_HUMAN			6	1646	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		479					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1335G>A	CCDS33026.2																																																																																				0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	502	0	0	0	1	0	6	502				
OR4E2	26686	broad.mit.edu	37	14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGCTGAAGGGCGCCAGAAAGC	0.527																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(697-699)Cgc>Tgc		olfactory receptor, family 4, subfamily E, member 2							111.0	104.0	106.0					14																	22133993		1962	4149	6111	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133993C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.697C>T	14.37:g.22133993C>T	ENSP00000386195:p.Arg233Cys						p.R233C	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	697	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	233					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.697C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718980	0.48622	.	.	ENSG00000221977	ENST00000408935	T	0.00337	8.05	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001514	T	0.01124	0.0037	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.50499	-0.8821	10	0.87932	D	0	.	12.3913	0.55360	0.1682:0.8318:0.0:0.0	.	233	Q8NGC2	OR4E2_HUMAN	C	233	ENSP00000386195:R233C	ENSP00000386195:R233C	R	+	1	0	OR4E2	21203833	0.001000	0.12720	0.993000	0.49108	0.371000	0.29859	0.040000	0.13905	2.782000	0.95742	0.591000	0.81541	CGC		0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			44	155	0	0	0	1	0	44	155				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	383	0	0	0	1	0	8	383				
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGAATTTGTGTAGAACTTTGA	0.473																																						ENST00000426066.1																			0																																																			0							g.chr22:22661312T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661312T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.473	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	147	0	0	0	1	0	7	147				
OR14K1	343170	broad.mit.edu	37	1	247902215	247902215	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:247902215T>C	ENST00000283225.2	+	1	299	c.299T>C	c.(298-300)tTc>tCc	p.F100S	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTGCAGCTCTTCTTGGTGGTA	0.542																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(298-300)tTc>tCc		olfactory receptor, family 14, subfamily K, member 1							105.0	106.0	106.0					1																	247902215		2194	4295	6489	SO:0001583	missense	343170							g.chr1:247902215T>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.299T>C	1.37:g.247902215T>C	ENSP00000283225:p.Phe100Ser					RP11-634B7.4_ENST00000449298.1_RNA	p.F100S							1	299	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.299T>C		.	.	.	.	.	.	.	.	.	.	T	16.12	3.034135	0.54896	.	.	ENSG00000153230	ENST00000283225	T	0.06294	3.32	3.74	3.74	0.42951	.	0.195044	0.24056	U	0.041942	T	0.11793	0.0287	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.03483	-1.1032	7	0.87932	D	0	.	11.368	0.49684	0.0:0.0:0.0:1.0	.	.	.	.	S	100	ENSP00000283225:F100S	ENSP00000283225:F100S	F	+	2	0	OR14K1	245968838	0.000000	0.05858	0.009000	0.14445	0.060000	0.15804	-0.555000	0.05999	1.525000	0.49052	0.496000	0.49642	TTC		0.542	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		71	290	0	0	0	1	0	71	290				
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79.0	74.0	76.0					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		8	277	0	0	0	1	0	8	277				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	180	0	0	0	1	0	4	180				
LRP2	4036	broad.mit.edu	37	2	170062574	170062574	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2505R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTTTGGAACGCGGGCTATCA	0.428																																						ENST00000263816.3																			1	Substitution - coding silent(1)	p.R2505R(1)	endometrium(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7513-7515)cgC>cgT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						153.0	147.0	149.0					2																	170062574		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062574G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7515C>T	2.37:g.170062574G>A							p.R2505R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7800	-			2505					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7515C>T	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		100	342	0	0	0	1	0	100	342				
ZWILCH	55055	broad.mit.edu	37	15	66832448	66832448	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000535141.2_Silent_p.Q415Q|ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	529					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGAAGCCACAGAAATGGAGAG	0.373																																						ENST00000307897.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						c.(1585-1587)caG>caA		zwilch kinetochore protein							82.0	83.0	83.0					15																	66832448		2201	4299	6500	SO:0001819	synonymous_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66832448G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1587G>A	15.37:g.66832448G>A						ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	p.Q529Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN			17	1967	+			529					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.1587G>A	CCDS10219.1																																																																																				0.373	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		60	112	0	0	0	1	0	60	112				
SPATA31A6	389730	broad.mit.edu	37	9	43627758	43627758	+	Missense_Mutation	SNP	C	C	T	rs200771177	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627758C>T	ENST00000332857.6	-	4	957	c.929G>A	c.(928-930)tGt>tAt	p.C310Y	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCCATCTGACAGGTCTCTGG	0.537													C|||	15	0.00299521	0.0	0.0043	5008	,	,		14600	0.002		0.004	False		,,,				2504	0.0061					ENST00000332857.6																			0											c.(928-930)tGt>tAt		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627758		313	930	1243	SO:0001583	missense	389730							g.chr9:43627758C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.929G>A	9.37:g.43627758C>T	ENSP00000329825:p.Cys310Tyr						p.C310Y	NM_001145196.1	NP_001138668.1					4	957	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.929G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277648	0.00254	.	.	ENSG00000185775	ENST00000332857	T	0.03635	3.86	1.91	0.992	0.19819	.	3.231580	0.01630	N	0.023486	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	P	0.43788	0.817	B	0.26693	0.072	T	0.42155	-0.9468	10	0.02654	T	1	.	4.3835	0.11305	0.0:0.7957:0.0:0.2043	.	310	Q5VVP1	F75A6_HUMAN	Y	310	ENSP00000329825:C310Y	ENSP00000329825:C310Y	C	-	2	0	FAM75A6	43567754	0.001000	0.12720	0.003000	0.11579	0.018000	0.09664	0.183000	0.16919	0.371000	0.24564	0.449000	0.29647	TGT		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	580	0	0	0	1	0	7	580				
ZMYM5	9205	broad.mit.edu	37	13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	402						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCTTCTGCTGACCTCCAATC	0.378																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1204-1206)Cag>Tag		zinc finger, MYM-type 5							89.0	76.0	80.0					13																	20409664		1568	3582	5150	SO:0001587	stop_gained	9205					nucleus	zinc ion binding	g.chr13:20409664G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1204C>T	13.37:g.20409664G>A	ENSP00000337034:p.Gln402*						p.Q402*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	7	1468	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	402					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Nonsense_Mutation	SNP	ENST00000337963.4	37	c.1204C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.428971	0.97559	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	.	.	.	4.88	4.03	0.46877	.	0.056814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.5531	14.9049	0.70711	0.0:0.2714:0.7286:0.0	.	.	.	.	X	402;392	.	ENSP00000337034:Q402X	Q	-	1	0	ZMYM5	19307664	1.000000	0.71417	0.890000	0.34922	0.578000	0.36192	7.270000	0.78493	1.405000	0.46838	-0.314000	0.08810	CAG		0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		5	225	0	0	0	1	0	5	225				
TRGV8	6982	broad.mit.edu	37	7	38370217	38370217	+	RNA	SNP	C	C	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:38370217C>G	ENST00000390343.2	-	0	194				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		TGGTGACTGACTTTGTTCTCC	0.463																																						ENST00000390343.2																			0																				71.0	69.0	69.0					7																	38370217		1911	4130	6041			0							g.chr7:38370217C>G	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370217C>G														0	194	-									RNA	SNP	ENST00000390343.2	37																																																																																						0.463	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	NG_001336		5	272	0	0	0	1	0	5	272				
ANKRD44	91526	broad.mit.edu	37	2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	147										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGAGCCGCATGGTGCAA	0.542																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(364-366)gCg>gTg		ankyrin repeat domain 44							96.0	93.0	94.0					2																	197990583		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197990583G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.365C>T	2.37:g.197990583G>A	ENSP00000331516:p.Ala122Val					ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V	p.A122V			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	441	-			147					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.488319	0.96323	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;D;D;D;D;T;D	0.81739	-0.26;-1.53;-1.53;-1.53;-1.53;-1.29;-1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	D	0.93967	0.7246	10	0.87932	D	0	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	75;147	F5H682;Q8N8A2-3	.;.	V	139;122;122;122;147;75;147	ENSP00000282272:A139V;ENSP00000331516:A122V;ENSP00000402420:A122V;ENSP00000338794:A122V;ENSP00000387141:A147V;ENSP00000437825:A75V;ENSP00000387233:A147V	ENSP00000282272:A139V	A	-	2	0	ANKRD44	197698828	1.000000	0.71417	0.368000	0.25939	0.860000	0.49131	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GCG		0.542	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		5	388	0	0	0	1	0	5	388				
NOS1	4842	broad.mit.edu	37	12	117703242	117703242	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:117703242C>T	ENST00000338101.4	-	11	2019	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R672H			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCCGGCAGCGGTACTCATT	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2014-2016)cGc>cAc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						35.0	38.0	37.0					12																	117703242		2105	4263	6368	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703242C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2015G>A	12.37:g.117703242C>T	ENSP00000337459:p.Arg672His					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R672H	p.R672H	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2700	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		672						Missense_Mutation	SNP	ENST00000338101.4	37	c.2015G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965956	0.74131	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.26660	1.72;1.72	5.37	4.48	0.54585	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.54801	-0.8239	10	0.87932	D	0	-23.9465	14.1209	0.65186	0.0:0.9273:0.0:0.0727	.	672	P29475	NOS1_HUMAN	H	567;672;672;672	ENSP00000320758:R672H;ENSP00000337459:R672H	ENSP00000320758:R672H	R	-	2	0	NOS1	116187625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.753000	0.62183	1.503000	0.48686	0.655000	0.94253	CGC		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			11	28	0	0	0	1	0	11	28				
AGER	177	broad.mit.edu	37	6	32151673	32151673	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000538695.1_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375055.2_Silent_p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	48	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCATTCCAGCCGCTGGGGTG	0.582																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(142-144)cgG>cgA		advanced glycosylation end product-specific receptor							67.0	77.0	73.0					6																	32151673		1510	2709	4219	SO:0001819	synonymous_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151673C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.144G>A	6.37:g.32151673C>T						AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375070.3_Silent_p.R79R	p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			2	245	-			48			Ig-like V-type.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Silent	SNP	ENST00000375076.4	37	c.144G>A	CCDS4746.1																																																																																				0.582	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		44	236	0	0	0	1	0	44	236				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000460062.1_5'UTR	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		6	133	0	0	0	1	0	6	133				
TRPV4	59341	broad.mit.edu	37	12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	581					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGACCAGGGCAAAGACCAT	0.587																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1741-1743)gCc>gTc		transient receptor potential cation channel, subfamily V, member 4							85.0	67.0	73.0					12																	110230539		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230539G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1742C>T	12.37:g.110230539G>A	ENSP00000406191:p.Ala581Val					TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V	p.A581V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1836	-			581					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1742C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561025	0.96527	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86420	2.815	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.99;0.938	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.922;0.851	D	0.95065	0.8199	10	0.54805	T	0.06	1.4817	19.1263	0.93386	0.0:0.0:1.0:0.0	.	521;581;474;534;547	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	581;581;534;521;474;521;534;547	ENSP00000406191:A581V;ENSP00000261740:A581V;ENSP00000376480:A534V;ENSP00000319003:A521V;ENSP00000443611:A474V;ENSP00000442738:A521V;ENSP00000442167:A534V;ENSP00000444336:A547V	ENSP00000261740:A581V	A	-	2	0	TRPV4	108714922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.650000	0.86243	GCC		0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		4	102	0	0	0	1	0	4	102				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	414	0	0	0	1	0	7	414				
HDAC5	10014	broad.mit.edu	37	17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000393622.2	-	19	2846	c.2515G>T	c.(2515-2517)Gcc>Tcc	p.A839S	HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	839	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACTCACATGGCTGTGGATTCC	0.602																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2518-2520)Gcc>Tcc		histone deacetylase 5							85.0	61.0	69.0					17																	42160137		2200	4299	6499	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42160137C>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2515G>T	17.37:g.42160137C>A	ENSP00000377244:p.Ala839Ser					HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S	p.A840S			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	19	2841	-		Breast(137;0.00637)|Prostate(33;0.0313)	839			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2518G>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949580	0.92660	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.72282	-0.64;-0.64;-0.64	5.4	4.44	0.53790	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.83478	0.5263	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.62365	0.99;0.99;0.981;0.991	D;D;D;D	0.81914	0.995;0.988;0.971;0.991	D	0.85438	0.1153	10	0.72032	D	0.01	.	12.7136	0.57103	0.0:0.9198:0.0:0.0802	.	754;839;840;839	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	840;839;754	ENSP00000225983:A840S;ENSP00000377244:A839S;ENSP00000337290:A754S	ENSP00000225983:A840S	A	-	1	0	HDAC5	39515663	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	4.016000	0.57159	1.295000	0.44724	0.655000	0.94253	GCC		0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	25	1	0	1	1	1	3	25				
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453																																						ENST00000276211.5																			1	Substitution - Missense(1)	p.R439C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1315-1317)Cgc>Tgc		Rho GTPase activating protein 36							100.0	91.0	94.0					X																	130220336		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220336C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1315C>T	X.37:g.130220336C>T	ENSP00000276211:p.Arg439Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	p.R439C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1660	+			439					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1315C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	ARHGAP36	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		71	92	0	0	0	1	0	71	92				
POM121C	100101267	broad.mit.edu	37	7	75051015	75051015	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:75051015C>T	ENST00000257665.5	-	11	3245	c.3246G>A	c.(3244-3246)tcG>tcA	p.S1082S	POM121C_ENST00000453279.2_Silent_p.S840S|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1082	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGGGGCTGCCGAACCCCCAA	0.652																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2518-2520)tcG>tcA		POM121 transmembrane nucleoporin C							4.0	6.0	5.0					7																	75051015		1709	3613	5322	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051015C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3246G>A	7.37:g.75051015C>T						POM121C_ENST00000257665.5_Silent_p.S1082S	p.S840S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			13	3384	-			1082			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2520G>A																																																																																					0.652	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		5	132	0	0	0	1	0	5	132				
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:125396503G>A	ENST00000538617.1	-	4	991	c.675C>T	c.(673-675)ctC>ctT	p.L225L	UBC_ENST00000536769.1_Silent_p.L605L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.L605L(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1813-1815)ctC>ctT		ubiquitin C							107.0	67.0	81.0					12																	125396503		2200	4279	6479	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396503G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.675C>T	12.37:g.125396503G>A						UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L	p.L605L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3391	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		605			Ubiquitin-like 8.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.1815C>T																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		6	307	0	0	0	1	0	6	307				
MAN2B2	23324	broad.mit.edu	37	4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C	rs533100135		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	321					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTCGGTGCAGTATGCCACGC	0.597																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(961-963)caG>caC		mannosidase, alpha, class 2B, member 2							128.0	96.0	107.0					4																	6596365		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6596365G>C	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.963G>C	4.37:g.6596365G>C	ENSP00000285599:p.Gln321His					MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	p.Q321H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			7	999	+			321					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.963G>C	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.976|5.976	0.364000|0.364000	0.11296|0.11296	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;T|.	0.75477|.	-0.94;-0.94|.	4.52|4.52	2.36|2.36	0.29203|0.29203	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.424218|.	0.26072|.	N|.	0.026512|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.70842|0.70842	2.15|2.15	0.37979|0.37979	D|D	0.93354|0.93354	B;B;B|.	0.18310|.	0.012;0.012;0.027|.	B;B;B|.	0.24848|.	0.056;0.037;0.043|.	T|T	0.62793|0.62793	-0.6779|-0.6779	10|5	0.16896|.	T|.	0.51|.	-10.2461|-10.2461	6.7447|6.7447	0.23454|0.23454	0.195:0.1512:0.6539:0.0|0.195:0.1512:0.6539:0.0	.|.	270;321;321|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	321;270|320	ENSP00000285599:Q321H;ENSP00000423129:Q270H|.	ENSP00000285599:Q321H|.	Q|S	+|+	3|2	2|0	MAN2B2|MAN2B2	6647266|6647266	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.187000|0.187000	0.23431|0.23431	4.173000|4.173000	0.58249|0.58249	0.891000|0.891000	0.36235|0.36235	0.543000|0.543000	0.68304|0.68304	CAG|AGT		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		35	106	0	0	0	1	0	35	106				
MIR516A2	574499	broad.mit.edu	37	19	54261563	54261563	+	RNA	SNP	G	G	A	rs373281715	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:54261563G>A	ENST00000384888.1	+	0	0				MIR516A1_ENST00000385033.1_RNA|AC011453.1_ENST00000583623.1_RNA|MIR1283-2_ENST00000408621.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030221.1				microRNA 516a-2																		GGAGTGTTACGGTTTGAGAAA	0.453													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19149	0.0		0.002	False		,,,				2504	0.0					ENST00000408621.1																			0															G		1,3135		0,1,1567	105.0	96.0	98.0			-0.5	0.0	19		98	12,7152		0,12,3570	no	intergenic				0,13,5137	AA,AG,GG		0.1675,0.0319,0.1262			54261563	13,10287	1568	3582	5150			0							g.chr19:54261563G>A			19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207620	ENSG00000207620		"""ncRNAs / Micro RNAs"""	32131	non-coding RNA	RNA, micro			"""microRNA 516-2"""	MIRN516-2, MIRN516A2			Standard	NR_030221		Approved	hsa-mir-516-2, hsa-mir-516a-2	uc021vay.1				19.37:g.54261563G>A								NR_031696.1						0	78	+									RNA	SNP	ENST00000384888.1	37																																																																																						0.453	MIR516A2-201	KNOWN	basic	miRNA	miRNA		NR_030221		65	325	0	0	0	1	0	65	325				
CCAR1	55749	broad.mit.edu	37	10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	598					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCAGCAGCTGGTCGAGAAGCT	0.522																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1792-1794)Gtc>Atc		cell division cycle and apoptosis regulator 1							96.0	92.0	94.0					10																	70516196		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70516196G>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1792G>A	10.37:g.70516196G>A	ENSP00000265872:p.Val598Ile					CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I	p.V598I	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			14	1911	+			598					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1792G>A	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035173	0.35893	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.42513	1.64;0.97;0.97;0.97;0.97;0.97	5.3	5.3	0.74995	.	0.264375	0.37669	N	0.001989	T	0.26521	0.0648	N	0.04508	-0.205	0.44073	D	0.996823	B;B;B	0.21606	0.058;0.021;0.011	B;B;B	0.22152	0.015;0.038;0.017	T	0.07404	-1.0774	10	0.38643	T	0.18	-0.3118	18.9513	0.92642	0.0:0.0:1.0:0.0	.	583;598;572	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	598;583;583;583;572;403	ENSP00000265872:V598I;ENSP00000441820:V583I;ENSP00000445254:V583I;ENSP00000439252:V583I;ENSP00000438610:V572I;ENSP00000439642:V403I	ENSP00000265872:V598I	V	+	1	0	CCAR1	70186202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.488000	0.83962	0.585000	0.79938	GTC		0.522	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		21	64	0	0	0	1	0	21	64				
B3GAT3	26229	broad.mit.edu	37	11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000265471.5	-	1	276	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	17					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGCCGGCGATCGACACCAGG	0.746																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(49-51)Atc>Ttc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							45.0	41.0	42.0					11																	62389371		2202	4296	6498	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389371T>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.49A>T	11.37:g.62389371T>A	ENSP00000265471:p.Ile17Phe					B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	p.I17F			O94766	B3GA3_HUMAN			1	255	-			17					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.49A>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077236	0.76415	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64803	-0.09;-0.11;-0.12;0.83	4.99	2.62	0.31277	.	1.133970	0.06543	N	0.743641	T	0.39708	0.1088	N	0.08118	0	0.37300	D	0.908636	B;B	0.20671	0.047;0.028	B;B	0.22601	0.04;0.007	T	0.41324	-0.9515	10	0.25751	T	0.34	.	4.5387	0.12047	0.0:0.1041:0.2165:0.6794	.	17;17	B7ZAB3;O94766	.;B3GA3_HUMAN	F	17	ENSP00000265471:I17F;ENSP00000431359:I17F;ENSP00000432474:I17F;ENSP00000432854:I17F	ENSP00000265471:I17F	I	-	1	0	B3GAT3	62145947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.014000	0.40951	0.941000	0.37499	0.459000	0.35465	ATC		0.746	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		35	113	0	0	0	1	0	35	113				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	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			14	178	0	0	0	1	0	14	178				
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47.0	50.0	49.0					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	372	0	0	0	1	0	6	372				
SORCS2	57537	broad.mit.edu	37	4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A	rs377584831		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	349					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTGACCGTGCAGGACGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17701	0.0		0.0	False		,,,				2504	0.0					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1045-1047)Gtg>Atg		sortilin-related VPS10 domain containing receptor 2		G	MET/VAL	0,3958		0,0,1979	61.0	61.0	61.0		1045	3.1	0.7	4		61	1,8329		0,1,4164	no	missense	SORCS2	NM_020777.2	21	0,1,6143	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	349/1160	7666172	1,12287	1979	4165	6144	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666172G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1045G>A	4.37:g.7666172G>A	ENSP00000422185:p.Val349Met					SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	p.V349M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			7	1154	+			349					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1045G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717578	0.48622	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.49139	0.79;0.79	4.82	3.07	0.35406	VPS10 (1);	0.297174	0.26539	N	0.023820	T	0.59059	0.2166	M	0.65975	2.015	0.48236	D	0.999617	D;D	0.76494	0.997;0.999	P;P	0.61328	0.808;0.887	T	0.56098	-0.8035	10	0.46703	T	0.11	.	9.0836	0.36567	0.0834:0.1487:0.7679:0.0	.	177;349	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	349;177	ENSP00000422185:V349M;ENSP00000329124:V177M	ENSP00000329124:V177M	V	+	1	0	SORCS2	7717072	1.000000	0.71417	0.695000	0.30226	0.364000	0.29643	4.341000	0.59335	0.443000	0.26582	0.655000	0.94253	GTG		0.532	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		27	102	0	0	0	1	0	27	102				
SLC4A3	6508	broad.mit.edu	37	2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	677					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCTTGCTGCGGACGGGCTC	0.642																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2029-2031)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 3							33.0	34.0	34.0					2																	220500451		2203	4299	6502	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220500451C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2029C>T	2.37:g.220500451C>T	ENSP00000350756:p.Arg677Trp					SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W	p.R677W			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2541	+		Renal(207;0.0183)	677					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2029C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533460	0.85812	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;D;P	0.65010	0.857;0.931;0.886	D	0.91234	0.5016	10	0.87932	D	0	.	14.3747	0.66865	0.1482:0.8518:0.0:0.0	.	381;677;704	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	677;677;704;704;677	ENSP00000350756:R677W;ENSP00000362865:R677W;ENSP00000273063:R704W;ENSP00000362867:R704W;ENSP00000314006:R677W	ENSP00000273063:R704W	R	+	1	2	SLC4A3	220208695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.201000	0.51059	2.264000	0.75181	0.643000	0.83706	CGG		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	61	0	0	0	1	0	4	61				
ARC	23237	broad.mit.edu	37	8	143694586	143694586	+	Silent	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCCTCTGGATGAGCTGCT	0.697																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1045-1047)atC>atA		activity-regulated cytoskeleton-associated protein							36.0	37.0	37.0					8																	143694586		2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694586G>T	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1047C>A	8.37:g.143694586G>T							p.I349I	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2247	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	349					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1047C>A	CCDS34950.1																																																																																				0.697	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			60	243	1	0	1.00798e-23	1	1.11316e-23	60	243				
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37.0	41.0	39.0					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		5	372	0	0	0	1	0	5	372				
ANGPTL2	23452	broad.mit.edu	37	9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	453	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGCCCCCGCGGTACCAGACCC	0.582																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1357-1359)taC>taA		angiopoietin-like 2							114.0	116.0	115.0					9																	129851341		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129851341G>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1359C>A	9.37:g.129851341G>T	ENSP00000362524:p.Tyr453*					RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	p.Y453*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			5	1976	-			453			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1359C>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.542895	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.3322	0.38030	0.185:0.0:0.815:0.0	.	.	.	.	X	453;151	.	ENSP00000362516:Y151X	Y	-	3	2	ANGPTL2	128891162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.766000	0.38491	1.221000	0.43506	0.655000	0.94253	TAC		0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		117	406	1	0	1.14472e-53	1	1.28654e-53	117	406				
POLR2G	5436	broad.mit.edu	37	11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	170					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						TTCGCAGGGCTTGTAAGCTGA	0.488																																						ENST00000301788.7																			0				lung(3)	3						c.(508-510)cTt>cCt		polymerase (RNA) II (DNA directed) polypeptide G							188.0	158.0	168.0					11																	62533969		2201	4299	6500	SO:0001583	missense	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62533969T>C	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.509T>C	11.37:g.62533969T>C	ENSP00000301788:p.Leu170Pro						p.L170P	NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN			8	614	+			170					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.509T>C	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933223	0.52866	.	.	ENSG00000168002	ENST00000301788	T	0.60672	0.17	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.322319	0.28241	N	0.016070	T	0.51041	0.1651	L	0.42487	1.325	0.80722	D	1	P	0.52316	0.952	B	0.43623	0.425	T	0.49447	-0.8939	10	0.30078	T	0.28	-22.2904	12.7857	0.57504	0.0:0.0:0.0:1.0	.	170	P62487	RPB7_HUMAN	P	170	ENSP00000301788:L170P	ENSP00000301788:L170P	L	+	2	0	POLR2G	62290545	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.560000	0.53763	2.276000	0.75962	0.455000	0.32223	CTT		0.488	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		53	154	0	0	0	1	0	53	154				
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A	rs532472487		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8602-8604)ccG>ccA		hemicentin 1							164.0	161.0	162.0					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050343G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8604G>A	1.37:g.186050343G>A						HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			56	8833	+			2868			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8604G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	898	0	0	0	1	0	8	898				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			6	74	0	0	0	1	0	6	74				
C19orf26	255057	broad.mit.edu	37	19	1236016	1236016	+	Silent	SNP	G	G	A	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000382477.2	-	2	340	c.66C>T	c.(64-66)gaC>gaT	p.D22D	AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.D28D|C19orf26_ENST00000215376.6_Silent_p.D22D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	22	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGGCATTGTCCCACGACG	0.687										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(82-84)gaC>gaT		chromosome 19 open reading frame 26		G		0,4402		0,0,2201	53.0	41.0	45.0		66	4.2	1.0	19	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C19orf26	NM_152769.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		22/448	1236016	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1236016G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.66C>T	19.37:g.1236016G>A		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D	p.D28D			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	376	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22			Thr-rich.		O43385	Silent	SNP	ENST00000382477.2	37	c.84C>T																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		40	112	0	0	0	1	0	40	112				
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2218-2220)Gag>Aag		myotubularin related protein 12							154.0	135.0	142.0					5																	32229910		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32229910C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2218G>A	5.37:g.32229910C>T	ENSP00000371577:p.Glu740Lys					MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	p.E740K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2388	-			740					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.2218G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588664	0.86851	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.97328	-4.34;-3.66;-3.8	5.02	5.02	0.67125	.	0.351538	0.29480	N	0.012035	D	0.97071	0.9043	L	0.27053	0.805	0.32367	N	0.556418	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.80764	0.99;0.994;0.985	D	0.97979	1.0348	10	0.87932	D	0	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	630;686;740	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	686;740;630	ENSP00000280285:E686K;ENSP00000371577:E740K;ENSP00000264934:E630K	ENSP00000264934:E630K	E	-	1	0	MTMR12	32265667	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.863000	0.69568	2.327000	0.79052	0.462000	0.41574	GAG		0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		59	177	0	0	0	1	0	59	177				
ENC1	8507	broad.mit.edu	37	5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	568				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACAGTGGTGATGCTGTTCCAC	0.473																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1702-1704)Atc>Gtc		ectodermal-neural cortex 1 (with BTB domain)							113.0	86.0	95.0					5																	73930609		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73930609T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1702A>G	5.37:g.73930609T>C	ENSP00000306356:p.Ile568Val					ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	p.I568V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2832	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	568	YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).				B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1702A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471920	0.12461	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	N	0.05124	-0.11	0.54753	D	0.999989	B	0.10296	0.003	B	0.14023	0.01	T	0.45160	-0.9280	10	0.02654	T	1	.	11.5467	0.50698	0.0:0.0698:0.0:0.9302	.	568	O14682	ENC1_HUMAN	V	568;495;568	ENSP00000306356:I568V;ENSP00000423804:I495V;ENSP00000446289:I568V	ENSP00000306356:I568V	I	-	1	0	ENC1	73966365	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	5.167000	0.64972	1.001000	0.39076	0.459000	0.35465	ATC		0.473	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		41	108	0	0	0	1	0	41	108				
CMYA5	202333	broad.mit.edu	37	5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2374					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAAATCACTCCTTTCA	0.368																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7120-7122)tCa>tAa		cardiomyopathy associated 5							36.0	35.0	36.0					5																	79031709		1865	4115	5980	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79031709C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7121C>A	5.37:g.79031709C>A	ENSP00000394770:p.Ser2374*						p.S2374*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7152	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2374					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.7121C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	46	12.721702	0.99691	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.65	-0.142	0.13448	.	2.581580	0.01232	N	0.008365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.8303	0.01129	0.16:0.3584:0.1561:0.3255	.	.	.	.	X	2374	.	ENSP00000394770:S2374X	S	+	2	0	CMYA5	79067465	0.000000	0.05858	0.015000	0.15790	0.868000	0.49771	-0.713000	0.05007	0.051000	0.15978	0.655000	0.94253	TCA		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		39	157	1	0	5.43694e-19	1	5.95251e-19	39	157				
BMS1P20	96610	broad.mit.edu	37	22	22661328	22661328	+	RNA	SNP	G	G	A	rs1044439		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661328G>A	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TTTGACCCCCGTTACCCCATT	0.507																																						ENST00000426066.1																			0																																																			0							g.chr22:22661328G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661328G>A								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.507	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	145	0	0	0	1	0	7	145				
KRTAP9-3	83900	broad.mit.edu	37	17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G	rs540460002		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	112	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)		p.P114fs*3(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACAAGTGTTTGTCTGCCTGG	0.602																																						ENST00000411528.2																			1	Deletion - Frameshift(1)	p.P114fs*3(1)	breast(1)	breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(334-336)Tgt>Ggt		keratin associated protein 9-3							134.0	151.0	145.0					17																	39389087		2103	4300	6403	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39389087T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.334T>G	17.37:g.39389087T>G	ENSP00000392189:p.Cys112Gly						p.C112G	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	373	+		Breast(137;0.000496)	112			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.334T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	9.806	1.181974	0.21787	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	2.42	-0.28	0.12886	.	.	.	.	.	T	0.04182	0.0116	M	0.86805	2.84	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	7	0.16420	T	0.52	.	3.9176	0.09230	0.0:0.1391:0.2145:0.6464	.	.	.	.	G	112	ENSP00000392189:C112G	ENSP00000392189:C112G	C	+	1	0	KRTAP9-3	36642613	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	-0.267000	0.08619	-0.256000	0.09473	0.329000	0.21502	TGT		0.602	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			89	276	0	0	0	1	0	89	276				
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260.0	258.0	259.0					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		9	1303	0	0	0	1	0	9	1303				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	342	0	0	0	1	0	5	342				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	505	0	0	0	1	0	15	505				
C1S	716	broad.mit.edu	37	12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S			P09871	C1S_HUMAN	complement component 1, s subcomponent	473	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1417-1419)Gct>Tct		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						50.0	47.0	48.0					12																	7177305		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177305G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1417G>T	12.37:g.7177305G>T	ENSP00000385035:p.Ala473Ser					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S	p.A473S			P09871	C1S_HUMAN			15	2045	+			473			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1417G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333322	0.81801	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.03	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	D	0.96592	0.8888	M	0.73372	2.23	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96958	0.9699	10	0.87932	D	0	.	13.8363	0.63410	0.0739:0.0:0.9261:0.0	.	473	P09871	C1S_HUMAN	S	473;473;473;467;306	ENSP00000385035:A473S;ENSP00000328173:A473S;ENSP00000354057:A473S;ENSP00000384171:A306S	ENSP00000328173:A473S	A	+	1	0	C1S	7047566	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	7.016000	0.76393	1.341000	0.45600	0.462000	0.41574	GCT		0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		45	172	1	0	5.48756e-27	1	6.11334e-27	45	172				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	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		7	337	0	0	0	1	0	7	337				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		26	109	1	0	1.39806e-14	1	1.50469e-14	26	109				
ANK3	288	broad.mit.edu	37	10	61844558	61844558	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.2	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000355288.2_Silent_p.L426L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1292	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTTTCTAAAACTTGAT	0.363																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3874-3876)ttA>ttG		ankyrin 3, node of Ranvier (ankyrin G)							60.0	55.0	57.0					10																	61844558		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844558T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3876A>G	10.37:g.61844558T>C						ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L	p.L1292L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			32	4067	-			1292					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3876A>G	CCDS7258.1																																																																																				0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		66	202	0	0	0	1	0	66	202				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	169	0	0	0	1	0	7	169				
AQP10	89872	broad.mit.edu	37	1	154300339	154300339	+	IGR	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:154300339C>A	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Splice_Site|ATP8B2_ENST00000368487.3_Intron	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTACAGGCATGGGCTTCT	0.557																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e1+2		ATPase, aminophospholipid transporter, class I, type 8B, member 2							178.0	168.0	172.0					1																	154300339		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300339C>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300339C>A						ATP8B2_ENST00000368487.3_Intron		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	62	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							Q5VYD3|Q5VYD4|Q8NG70	Splice_Site	SNP	ENST00000324978.3	37		CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	3.992	-0.004367	0.07773	.	.	ENSG00000143515	ENST00000368489	.	.	.	3.21	-0.116	0.13555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9415	0.03348	0.2644:0.3646:0.0:0.371	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8B2	152566963	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.189000	0.09629	-0.019000	0.14055	0.455000	0.32223	.		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		7	551	1	0	0.27861	1	0.280822	7	551				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	173	0	0	0	1	0	5	173				
FUZ	80199	broad.mit.edu	37	19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	151					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CAGTCCACACACTGGGTCAGG	0.572																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(451-453)Tgt>Cgt		fuzzy planar cell polarity protein							67.0	54.0	58.0					19																	50314661		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50314661A>G	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.451T>C	19.37:g.50314661A>G	ENSP00000313309:p.Cys151Arg					FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000534008.1_5'UTR	p.C151R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	5	614	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	151					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.451T>C	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591637	0.66219	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.21	4.21	0.49690	.	0.108709	0.64402	D	0.000007	T	0.42245	0.1194	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.987;0.953	T	0.36383	-0.9750	10	0.87932	D	0	-13.6359	10.9033	0.47065	1.0:0.0:0.0:0.0	.	151;115;151	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	R	115;101;151;151;51;151;101;151	ENSP00000435177:C115R;ENSP00000431731:C101R;ENSP00000313309:C151R;ENSP00000408018:C151R	ENSP00000313309:C151R	C	-	1	0	FUZ	55006473	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.087000	0.50167	1.763000	0.52060	0.379000	0.24179	TGT		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		29	49	0	0	0	1	0	29	49				
OBP2B	29989	broad.mit.edu	37	9	136081782	136081782	+	Missense_Mutation	SNP	C	C	A	rs1132281	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081782C>A	ENST00000372034.3	-	5	451	c.410G>T	c.(409-411)cGg>cTg	p.R137L	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	137					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.R137L(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CAGGGCCTCCCGGTTGGTATC	0.607													c|||	3	0.000599042	0.0015	0.0	5008	,	,		15783	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			1	Substitution - Missense(1)	p.R137L(1)	central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(409-411)cGg>cTg		odorant binding protein 2B							93.0	88.0	90.0					9																	136081782		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081782C>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.410G>T	9.37:g.136081782C>A	ENSP00000361104:p.Arg137Leu					OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	p.R137L	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	451	-			137					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.410G>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	c	2.361	-0.346677	0.05208	.	.	ENSG00000171102	ENST00000372034	T	0.08984	3.03	2.38	-4.07	0.03975	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.645570	0.04093	N	0.311619	T	0.01523	0.0049	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42965	-0.9420	10	0.17369	T	0.5	0.165	4.7213	0.12920	0.227:0.1915:0.5815:0.0	rs1132281;rs3178140;rs3192933;rs52820958;rs1132281	137	Q9NPH6	OBP2B_HUMAN	L	137	ENSP00000361104:R137L	ENSP00000361104:R137L	R	-	2	0	OBP2B	135071603	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.968000	0.00669	-0.818000	0.04329	-0.386000	0.06593	CGG		0.607	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		9	329	1	0	9.31168e-06	1	9.69331e-06	9	329				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	202	1	0	2.0095e-06	1	2.12672e-06	6	202				
TXNDC2	84203	broad.mit.edu	37	18	9886941	9886941	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000357775.5_Silent_p.K88K|TXNDC2_ENST00000536353.2_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(463-465)aaA>aaG		thioredoxin domain containing 2 (spermatozoa)							131.0	137.0	135.0					18																	9886941		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886941A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.465A>G	18.37:g.9886941A>G						TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.4_Silent_p.K88K	p.K155K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	664	+			155			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.465A>G	CCDS42414.1																																																																																				0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	622	0	0	0	1	0	6	622				
NAA25	80018	broad.mit.edu	37	12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	39						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTATGTTTCTTCAACAGTTTA	0.313																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(115-117)Aag>Gag		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							138.0	122.0	128.0					12																	112530884		2202	4300	6502	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112530884T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.115A>G	12.37:g.112530884T>C	ENSP00000261745:p.Lys39Glu						p.K39E	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			2	363	-			39					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.115A>G	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	32	5.154751	0.94686	.	.	ENSG00000111300	ENST00000261745	T	0.36340	1.26	5.15	5.15	0.70609	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79805	2.47	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.58266	0.836;0.836	T	0.65265	-0.6210	10	0.72032	D	0.01	-16.1726	15.2728	0.73717	0.0:0.0:0.0:1.0	.	39;39	A8K8X0;Q14CX7	.;NAA25_HUMAN	E	39	ENSP00000261745:K39E	ENSP00000261745:K39E	K	-	1	0	NAA25	111015267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.061000	0.61500	0.482000	0.46254	AAG		0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		9	255	0	0	0	1	0	9	255				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	244	0	0	0	1	0	5	244				
BCL11A	53335	broad.mit.edu	37	2	60688625	60688625	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000356842.4_Silent_p.N474N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	474					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTTGGGGTCGTTCTCGCTCT	0.642			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1420-1422)aaC>aaT		B-cell CLL/lymphoma 11A (zinc finger protein)							24.0	25.0	25.0					2																	60688625		2202	4300	6502	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688625G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1422C>T	2.37:g.60688625G>A						BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N	p.N474N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1649	-			474					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1422C>T	CCDS1862.1																																																																																				0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		20	65	0	0	0	1	0	20	65				
IFNLR1	163702	broad.mit.edu	37	1	24495932	24495932	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:24495932G>A	ENST00000327535.1	-	3	354	c.342C>T	c.(340-342)tcC>tcT	p.S114S	IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	114	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CCAGGTATTCGGACTCCACCC	0.537																																						ENST00000327535.1																			0											c.(340-342)tcC>tcT		interferon, lambda receptor 1							82.0	75.0	78.0					1																	24495932		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24495932G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.342C>T	1.37:g.24495932G>A						IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S	p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					3	354	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.342C>T	CCDS248.1																																																																																				0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		25	82	0	0	0	1	0	25	82				
PLEC	5339	broad.mit.edu	37	8	145027910	145027910	+	5'Flank	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145027910C>T	ENST00000322810.4	-	0	0				PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Silent_p.E10E|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGAGCTGATCTCGTTCTGGA	0.726																																						ENST00000354958.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(28-30)gaG>gaA		plectin							23.0	29.0	27.0					8																	145027910		1972	4133	6105	SO:0001631	upstream_gene_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145027910C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291		8.37:g.145027910C>T	Exception_encountered					PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	p.E10E	NM_201379.1	NP_958781.1	Q15149	PLEC_HUMAN			1	178	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.30G>A	CCDS43772.1																																																																																				0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		28	210	0	0	0	1	0	28	210				
ARHGAP39	80728	broad.mit.edu	37	8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	C8orf82_ENST00000524821.1_5'Flank|C8orf82_ENST00000313465.5_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1008	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGCACCATGCGGTTGATGCGG	0.721																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(3022-3024)Cgc>Tgc		Rho GTPase activating protein 39							33.0	28.0	29.0					8																	145756121		2185	4289	6474	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145756121G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.3022C>T	8.37:g.145756121G>A	ENSP00000276826:p.Arg1008Cys					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C	p.R1008C			Q9C0H5	RHG39_HUMAN			9	3223	-			1008			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.3022C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.379235	0.82682	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.22134	1.97;1.97;1.97	5.19	4.22	0.49857	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.342077	0.28247	N	0.016055	T	0.45657	0.1353	M	0.92970	3.365	0.48341	D	0.999631	D;P	0.61080	0.989;0.872	P;B	0.53722	0.733;0.431	T	0.58956	-0.7544	10	0.87932	D	0	-35.1021	11.8975	0.52663	0.0:0.0:0.7901:0.2099	.	1008;1039	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	1008;1039;1008	ENSP00000276826:R1008C;ENSP00000366522:R1039C;ENSP00000445075:R1008C	ENSP00000276826:R1008C	R	-	1	0	ARHGAP39	145726929	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.311000	0.43717	2.414000	0.81942	0.561000	0.74099	CGC		0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			18	120	0	0	0	1	0	18	120				
ADAM17	6868	broad.mit.edu	37	2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	253	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCAATTAGCTCTATCTGTGT	0.333																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(757-759)gAg>gTg		ADAM metallopeptidase domain 17							136.0	134.0	135.0					2																	9663463		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9663463T>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.758A>T	2.37:g.9663463T>A	ENSP00000309968:p.Glu253Val					ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	7	940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		253			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.758A>T	CCDS1665.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.180382|4.180382	0.78677|0.78677	.|.	.|.	ENSG00000151694|ENSG00000151694	ENST00000310823;ENST00000497134|ENST00000538558	D;D|.	0.87650|.	-2.28;-2.28|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	P;P|.	0.51351|.	0.944;0.944|.	P;P|.	0.54629|.	0.757;0.757|.	T|T	0.78081|0.78081	-0.2343|-0.2343	10|6	0.56958|0.59425	D|D	0.05|0.04	.|.	14.6645|14.6645	0.68896|0.68896	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253;253|.	B2RNB2;P78536|.	.;ADA17_HUMAN|.	V|S	253|256	ENSP00000309968:E253V;ENSP00000418728:E253V|.	ENSP00000309968:E253V|ENSP00000439780:R256S	E|R	-|-	2|3	0|2	ADAM17|ADAM17	9580914|9580914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.655000|7.655000	0.83696|0.83696	1.927000|1.927000	0.55829|0.55829	0.402000|0.402000	0.26972|0.26972	GAG|AGA		0.333	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			72	226	0	0	0	1	0	72	226				
SYT16	83851	broad.mit.edu	37	14	62547800	62547800	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	414	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACCCCGTCTTCAGGGAGAAGG	0.582																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1240-1242)ttC>ttT		synaptotagmin XVI							38.0	43.0	41.0					14																	62547800		2155	4270	6425	SO:0001819	synonymous_variant	83851							g.chr14:62547800C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1242C>T	14.37:g.62547800C>T						RP11-355I22.5_ENST00000553990.1_lincRNA	p.F414F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1439	+			414			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1242C>T	CCDS45121.1																																																																																				0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		19	79	0	0	0	1	0	19	79				
MAPK8IP3	23162	broad.mit.edu	37	16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	500					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAAAGAAGAGGCGGAGGATG	0.602																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1498-1500)gaG>gaT		mitogen-activated protein kinase 8 interacting protein 3							89.0	96.0	94.0					16																	1811270		1991	4146	6137	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1811270G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1500G>T	16.37:g.1811270G>T	ENSP00000250894:p.Glu500Asp					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	p.E500D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			13	1657	+			500					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1500G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156321	0.09236	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	4.75	3.72	0.42706	.	0.055147	0.64402	D	0.000001	T	0.09598	0.0236	L	0.29908	0.895	0.54753	D	0.999985	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.11665	-1.0578	10	0.07990	T	0.79	-42.6426	7.1817	0.25776	0.0877:0.0:0.7414:0.1709	.	501;494;500	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	D	500;494	ENSP00000250894:E500D;ENSP00000348290:E494D	ENSP00000250894:E500D	E	+	3	2	MAPK8IP3	1751271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.131000	0.50515	2.195000	0.70347	0.609000	0.83330	GAG		0.602	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		104	330	1	0	1.98007e-57	1	2.24526e-57	104	330				
TUBA4A	7277	broad.mit.edu	37	2	220115248	220115248	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000248437.4	-	4	1346	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	TUBA4A_ENST00000498660.1_5'Flank|TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	391					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTGTGGTCCAGGCGGGCCC	0.637																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1126-1128)ctG>ctA		tubulin, alpha 4a							101.0	89.0	93.0					2																	220115248		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220115248C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1173G>A	2.37:g.220115248C>T						TUBA4A_ENST00000248437.4_Silent_p.L391L	p.L376L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1683	-		Renal(207;0.0474)	391					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.1128G>A	CCDS2438.1																																																																																				0.637	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		68	285	0	0	0	1	0	68	285				
GRIN3B	116444	broad.mit.edu	37	19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	604					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACGGCCTCACGCCACGTGGC	0.662																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1810-1812)aCg>aTg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						90.0	79.0	83.0					19																	1005311		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005311C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1811C>T	19.37:g.1005311C>T	ENSP00000234389:p.Thr604Met						p.T604M	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1830	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	604					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1811C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988790	0.53934	.	.	ENSG00000116032	ENST00000234389	T	0.54479	0.57	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.79475	2.455	0.47308	D	0.999383	D	0.89917	1.0	D	0.97110	1.0	T	0.77965	-0.2389	10	0.87932	D	0	.	15.515	0.75815	0.0:1.0:0.0:0.0	.	604	O60391	NMD3B_HUMAN	M	604	ENSP00000234389:T604M	ENSP00000234389:T604M	T	+	2	0	GRIN3B	956311	1.000000	0.71417	0.993000	0.49108	0.178000	0.23041	7.671000	0.83941	2.012000	0.59069	0.306000	0.20318	ACG		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			60	200	0	0	0	1	0	60	200				
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	lincRNA	DEL	AG	AG	-	rs373568877		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.5																																						ENST00000432922.1																			0																																																			0							g.chr1:38562824_38562825delAG																													1.37:g.38562834_38562835delAG														0	301	+									RNA	DEL	ENST00000432922.1	37																																																																																						0.500	RP5-884C9.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000001201.1			3	6						3	6	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	124						8	124	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		10	690						10	690	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		11	181						11	181	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910879	2910880	+	lincRNA	INS	-	-	C	rs372451833		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:2910879_2910880insC	ENST00000457478.1	-	0	594																											acagccacccaccctacacctc	0.698																																						ENST00000457478.1																			0																																																			0							g.chr2:2910879_2910880insC																													2.37:g.2910882_2910882dupC														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.698	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			8	3						8	3	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	58688842	58688843	+	lincRNA	DEL	CT	CT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465																																						ENST00000452840.1																			0																																																			0							g.chr2:58688842_58688843delCT																													2.37:g.58688852_58688853delCT														0	127	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.465	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			8	137						8	137	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			7	23						7	23	---	---	---	---
SP100	6672	broad.mit.edu	37	2	231380272	231380273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:231380272_231380273insA	ENST00000264052.5	+	25	2912_2913	c.2557_2558insA	c.(2557-2559)gaafs	p.E853fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	853					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		tgtcaaggctgaaaaaagcaag	0.366																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2557-2559)aaafs		SP100 nuclear antigen																																				SO:0001589	frameshift_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380272_231380273insA	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2563dupA	2.37:g.231380278_231380278dupA	ENSP00000264052:p.Glu853fs					SP100_ENST00000340126.4_Intron	p.K853fs	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2912_2913	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	853					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Ins	INS	ENST00000264052.5	37	c.2557_2558insA	CCDS2477.1																																																																																				0.366	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		14	41						14	41	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		8	940						8	940	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-	rs569784894		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)aagfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(919-921)agfs		urocanate hydratase 1							209.0	200.0	203.0					3																	126220106		2203	4300	6503	SO:0001589	frameshift_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220106delT	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.920delA	3.37:g.126220106delT	ENSP00000290868:p.Lys307fs					UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	p.K307fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	973	-			307					E9PE13|Q14C64|Q68CJ7	Frame_Shift_Del	DEL	ENST00000290868.2	37	c.920delA	CCDS3038.1																																																																																				0.587	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		8	797						8	797	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	401						9	401	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		9	152						9	152	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	256						8	256	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)cccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	602	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCGGCGGGGGGGTGAG	0.647																																						ENST00000220592.5																			0											c.(1804-1806)ccfs		argonaute RISC catalytic component 2							92.0	101.0	98.0					8																	141554345		2203	4300	6503	SO:0001589	frameshift_variant	27161							g.chr8:141554345delG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1806delC	8.37:g.141554345delG	ENSP00000220592:p.Pro602fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	p.P602fs	NM_012154.3	NP_036286.2					14	1918	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1806delC	CCDS6380.1																																																																																				0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			8	3024						8	3024	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-	rs587782206		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		40	100						40	100	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-	rs368995487		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	247						7	247	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A	rs369320979		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000539288.1_5'Flank|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.e8-1		UV radiation resistance associated																																				SO:0001630	splice_region_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75694430_75694431insA	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1->A	11.37:g.75694440_75694440dupA						UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site		NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			8	940_941	+								B3KTC1|O00392	Splice_Site	INS	ENST00000356136.3	37		CCDS8241.1																																																																																				0.302	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	Intron	7	193						7	193	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94230058	94230059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:94230058_94230059insA	ENST00000544612.1	+	2	696_697	c.199_200insA	c.(199-201)gaafs	p.E67fs	ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000544253.1_Frame_Shift_Ins_p.E67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.E67fs|MRE11A_ENST00000323929.3_5'Flank	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	67					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGATTGCAAGAAAAAAAAATG	0.381																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(199-201)aaafs		ankyrin repeat domain 49				38,4226		0,38,2094						5.6	1.0			79	34,8214		0,34,4090	no	frameshift	ANKRD49	NM_017704.2		0,72,6184	A1A1,A1R,RR		0.4122,0.8912,0.5754				72,12440				SO:0001589	frameshift_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230058_94230059insA	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.208dupA	11.37:g.94230067_94230067dupA	ENSP00000440396:p.Glu67fs					ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs	p.K67fs			Q8WVL7	ANR49_HUMAN			2	317_318	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	67					Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Ins	INS	ENST00000544612.1	37	c.199_200insA	CCDS8300.1																																																																																				0.381	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		7	412						7	412	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			7	152						7	152	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			9	296						9	296	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	346						8	346	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		9	164						9	164	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G	rs377032678		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCCTGGGGGCTGGCGGACCCAG	0.594																																						ENST00000557788.2																			0																																																			0							g.chr15:22473095_22473096insG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473097_22473097dupG														0	174_175	-									RNA	INS	ENST00000557788.2	37																																																																																						0.594	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			15	1125						15	1125	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	220						7	220	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	276						9	276	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	317						8	317	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	321						7	321	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000269305.4	-	4	373	c.184delG	c.(184-186)gaafs	p.E62fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	62	Interaction with HRMT1L2.		E -> D (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGGGAGCTTCATCTGGACCT	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		28	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|liver(2)|urinary_tract(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(184-186)aafs	Other conserved DNA damage response genes	tumor protein p53							138.0	142.0	140.0					17																	7579503		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579503delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.184delG	17.37:g.7579503delC	ENSP00000269305:p.Glu62fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs	p.E62fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	316	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	62		E -> D (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.184delG	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		259	603						259	603	---	---	---	---
PPP1R1B	84152	broad.mit.edu	37	17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-	rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agaccaacgcctgccatgfs	p.RPTPAM32fs	PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	32					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648																																						ENST00000254079.4																			1	Substitution - Missense(1)	p.P33A(1)	kidney(1)	kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(94-111)agfs		protein phosphatase 1, regulatory (inhibitor) subunit 1B																																				SO:0001589	frameshift_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.95_110delGACCAACGCCTGCCAT	17.37:g.37785436_37785451delGACCAACGCCTGCCAT	ENSP00000254079:p.Arg32fs					PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs	p.RPTPAM32fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	564_579	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		32					Q547V9|Q547W0|Q9H7G1	Frame_Shift_Del	DEL	ENST00000254079.4	37	c.95_110delGACCAACGCCTGCCAT	CCDS11339.1																																																																																				0.648	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		20	215						20	215	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	271						7	271	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					ENST00000316249.3																			2	Insertion - In frame(2)	p.P8_G9insG(2)	upper_aerodigestive_tract(2)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(22-27)ccgcgg>ccGGCgcgg		potassium voltage-gated channel, subfamily G, member 2																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.8_9PR>PAR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	8						In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																				0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		6	10						6	10	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aaafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGGGGACGGAAAAAAAAGGT	0.632																																						ENST00000301284.4																			0											c.(670-672)aafs									44.0	54.0	51.0					19																	4491824		1879	4108	5987	SO:0001589	frameshift_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491824delA																												ENST00000301284.4:c.670delA	19.37:g.4491824delA	ENSP00000301284:p.Lys227fs					HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	734	+			227			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Frame_Shift_Del	DEL	ENST00000301284.4	37	c.670delA	CCDS42472.1																																																																																				0.632	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	346						7	346	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		7	247						7	247	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085780	11085781	+	RNA	INS	-	-	C	rs373794997		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr21:11085780_11085781insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccacatcacaatca	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085780_11085781insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085781_11085781dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	8						6	8	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	18976300	18976301	+	RNA	INS	-	-	TATT	rs139950802|rs66539476	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:18976300_18976301insTATT	ENST00000421572.1	+	0	404				DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000399539.3_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CTGGCTGGACAtatttatttat	0.381																																						ENST00000438934.1																			0																																																			0							g.chr22:18976300_18976301insTATT	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18976305_18976308dupTATT						DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA								0	394	+									RNA	INS	ENST00000421572.1	37																																																																																						0.381	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		4	8						4	8	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		9	25						9	25	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		10	257						10	257	---	---	---	---
