#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
GLRA3	8001	broad.mit.edu	37	4	175565195	175565195	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:175565195G>A	ENST00000274093.3	-	10	1639	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	GLRA3_ENST00000340217.5_Silent_p.S364S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	379					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGCTGAATCGGCTTTCCCTTA	0.438																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1135-1137)agC>agT		glycine receptor, alpha 3	Glycine(DB00145)						139.0	121.0	127.0					4																	175565195		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565195G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1137C>T	4.37:g.175565195G>A						GLRA3_ENST00000340217.5_Silent_p.S364S	p.S379S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1639	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	379					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.1137C>T	CCDS3822.1																																																																																				0.438	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			4	129	0	0	0	0.001168	0	4	129				
PTPRD	5789	broad.mit.edu	37	9	8376664	8376664	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr9:8376664C>T	ENST00000381196.4	-	35	4992	c.4449G>A	c.(4447-4449)acG>acA	p.T1483T	PTPRD_ENST00000360074.4_Silent_p.T1470T|PTPRD_ENST00000358503.5_Silent_p.T1461T|PTPRD_ENST00000486161.1_Silent_p.T1076T|PTPRD_ENST00000397617.3_Silent_p.T1076T|PTPRD_ENST00000540109.1_Silent_p.T1483T|PTPRD_ENST00000356435.5_Silent_p.T1483T|PTPRD_ENST00000397606.3_Silent_p.T1076T|PTPRD_ENST00000355233.5_Silent_p.T1077T|PTPRD_ENST00000397611.3_Silent_p.T1073T|PTPRD_ENST00000537002.1_Silent_p.T1073T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1483	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCAAGCAGCGTTACTTGAA	0.453										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4447-4449)acG>acA		protein tyrosine phosphatase, receptor type, D							199.0	156.0	170.0					9																	8376664		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8376664C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4449G>A	9.37:g.8376664C>T		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.T1483T|PTPRD_ENST00000360074.4_Silent_p.T1470T|PTPRD_ENST00000537002.1_Silent_p.T1073T|PTPRD_ENST00000486161.1_Silent_p.T1076T|PTPRD_ENST00000356435.5_Silent_p.T1483T|PTPRD_ENST00000355233.5_Silent_p.T1077T|PTPRD_ENST00000397606.3_Silent_p.T1076T|PTPRD_ENST00000397611.3_Silent_p.T1073T|PTPRD_ENST00000358503.5_Silent_p.T1461T|PTPRD_ENST00000397617.3_Silent_p.T1076T	p.T1483T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	35	4992	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1483			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4449G>A	CCDS43786.1																																																																																				0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			15	41	0	0	0	0.004007	0	15	41				
GABRG1	2565	broad.mit.edu	37	4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A	rs201862437	byFrequency	TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGTTCACCGTTAAATCCTC	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		16156	0.002		0.0	False		,,,				2504	0.0					ENST00000295452.4																			4	Substitution - Missense(4)	p.T48M(4)	central_nervous_system(3)|prostate(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(142-144)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, gamma 1							184.0	186.0	185.0					4																	46099328		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099328G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.143C>T	4.37:g.46099328G>A	ENSP00000295452:p.Thr48Met						p.T48M	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	310	-			48					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.143C>T	CCDS3470.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.60	3.168790	0.57584	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.67698	-0.28	4.96	4.96	0.65561	.	1.198030	0.05735	N	0.600243	T	0.75162	0.3812	L	0.53249	1.67	0.37172	D	0.903073	D	0.61697	0.99	P	0.50490	0.642	T	0.71397	-0.4605	10	0.62326	D	0.03	.	17.3741	0.87386	0.0:0.0:1.0:0.0	.	48	Q8N1C3	GBRG1_HUMAN	M	48	ENSP00000295452:T48M	ENSP00000295452:T48M	T	-	2	0	GABRG1	45794085	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	2.979000	0.49313	2.567000	0.86603	0.655000	0.94253	ACG		0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		5	182	0	0	0	0.001168	0	5	182				
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Silent	SNP	T	T	C	rs112181516		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55861308T>C	ENST00000302124.2	+	1	556	c.525T>C	c.(523-525)caT>caC	p.H175H		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443																																						ENST00000302124.2																			1	Insertion - Frameshift(1)	p.C178fs*2(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(523-525)caT>caC		olfactory receptor, family 8, subfamily I, member 2							154.0	146.0	149.0					11																	55861308		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861308T>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.525T>C	11.37:g.55861308T>C						OR8I2_ENST00000560768.1_Silent_p.H175H	p.H175H			Q8N0Y5	OR8I2_HUMAN			1	556	+	Esophageal squamous(21;0.00693)		175					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.525T>C	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		7	117	0	0	0	0.001984	0	7	117				
P2RY6	5031	broad.mit.edu	37	11	73007739	73007739	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:73007739C>T	ENST00000393590.2	+	2	475	c.176C>T	c.(175-177)aCc>aTc	p.T59I	P2RY6_ENST00000540342.1_Missense_Mutation_p.T59I|P2RY6_ENST00000542092.1_Missense_Mutation_p.T59I|P2RY6_ENST00000393591.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540124.1_Missense_Mutation_p.T59I|P2RY6_ENST00000349767.2_Missense_Mutation_p.T59I|P2RY6_ENST00000538328.1_Missense_Mutation_p.T59I|P2RY6_ENST00000393592.2_Missense_Mutation_p.T59I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	59					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGGCCCTGACCCGCACGGCC	0.612																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(175-177)aCc>aTc		pyrimidinergic receptor P2Y, G-protein coupled, 6							159.0	150.0	153.0					11																	73007739		2200	4293	6493	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007739C>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.176C>T	11.37:g.73007739C>T	ENSP00000377215:p.Thr59Ile					P2RY6_ENST00000542092.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540124.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540342.1_Missense_Mutation_p.T59I|P2RY6_ENST00000538328.1_Missense_Mutation_p.T59I|P2RY6_ENST00000349767.2_Missense_Mutation_p.T59I|P2RY6_ENST00000393591.1_Missense_Mutation_p.T59I|P2RY6_ENST00000393592.2_Missense_Mutation_p.T59I	p.T59I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	475	+			59					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.176C>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107587	0.37145	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.36	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.058911	0.64402	D	0.000003	T	0.60405	0.2266	M	0.77820	2.39	0.43069	D	0.994707	D	0.69078	0.997	D	0.65874	0.939	T	0.64879	-0.6303	10	0.72032	D	0.01	.	10.3523	0.43943	0.1508:0.7035:0.1457:0.0	.	59	Q15077	P2RY6_HUMAN	I	59	ENSP00000443427:T59I;ENSP00000445652:T59I;ENSP00000309771:T59I;ENSP00000377217:T59I;ENSP00000441079:T59I;ENSP00000377216:T59I;ENSP00000442551:T59I;ENSP00000377215:T59I;ENSP00000440770:T59I;ENSP00000442990:T59I	ENSP00000309771:T59I	T	+	2	0	P2RY6	72685387	1.000000	0.71417	0.996000	0.52242	0.081000	0.17604	2.537000	0.45702	1.158000	0.42547	0.491000	0.48974	ACC		0.612	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			53	187	0	0	0	0.003610	0	53	187				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	35	0	0	0	0.000602	0	5	35				
INADL	10207	broad.mit.edu	37	1	62586854	62586854	+	Splice_Site	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:62586854G>A	ENST00000371158.2	+	38	5006	c.4892G>A	c.(4891-4893)gGt>gAt	p.G1631D	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1631					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTTTCAGGGTAGTCAGCAG	0.493																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e38-1		InaD-like (Drosophila)							94.0	102.0	99.0					1																	62586854		2092	4229	6321	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62586854G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4891-1G>A	1.37:g.62586854G>A						INADL_ENST00000472512.1_3'UTR	p.G1631_splice	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			38	5006	+			1631					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37	c.4890_splice	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256549	0.22965	.	.	ENSG00000132849	ENST00000371158	T	0.12255	2.7	5.5	2.43	0.29744	.	0.265792	0.30519	N	0.009444	T	0.07324	0.0185	L	0.27053	0.805	0.22684	N	0.998855	B	0.30455	0.28	B	0.28916	0.096	T	0.23511	-1.0186	10	0.33141	T	0.24	.	2.4183	0.04441	0.1624:0.2298:0.4714:0.1364	.	1631	Q8NI35	INADL_HUMAN	D	1631	ENSP00000360200:G1631D	ENSP00000360200:G1631D	G	+	2	0	INADL	62359442	0.067000	0.21026	0.654000	0.29608	0.070000	0.16714	0.108000	0.15396	0.810000	0.34279	0.563000	0.77884	GGT		0.493	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Missense_Mutation	44	76	0	0	0	0.003610	0	44	76				
CCDC173	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:170537668G>C	ENST00000447353.1	-	2	248	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	48																	TGGAATTATGGTGACCTGCTG	0.388																																						ENST00000447353.1																			0											c.(142-144)aCc>aGc		coiled-coil domain containing 173							158.0	150.0	152.0					2																	170537668		1936	4142	6078	SO:0001583	missense	129881							g.chr2:170537668G>C	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.143C>G	2.37:g.170537668G>C	ENSP00000391504:p.Thr48Ser						p.T48S	NM_001085447.1	NP_001078916.1					2	248	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.143C>G	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159226	0.78226	.	.	ENSG00000154479	ENST00000447353;ENST00000419478	.	.	.	5.79	5.79	0.91817	.	0.260094	0.30714	U	0.009025	T	0.59128	0.2171	M	0.73598	2.24	0.35739	D	0.818536	P	0.35745	0.518	B	0.35182	0.197	T	0.71494	-0.4576	9	0.66056	D	0.02	.	13.6867	0.62520	0.0795:0.0:0.9205:0.0	.	48	Q0VFZ6	CB077_HUMAN	S	48;24	.	ENSP00000408143:T24S	T	-	2	0	C2orf77	170245914	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.235000	0.58666	2.740000	0.93945	0.563000	0.77884	ACC		0.388	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		38	51	0	0	0	0.005524	0	38	51				
DDX43	55510	broad.mit.edu	37	6	74117789	74117789	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:74117789A>G	ENST00000370336.4	+	9	1302	c.1144A>G	c.(1144-1146)Agt>Ggt	p.S382G	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	382	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCAAATGAGTAACTTCGT	0.388																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1144-1146)Agt>Ggt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							95.0	94.0	95.0					6																	74117789		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74117789A>G		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1144A>G	6.37:g.74117789A>G	ENSP00000359361:p.Ser382Gly					DDX43_ENST00000479773.1_3'UTR	p.S382G	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			9	1302	+			382			Helicase ATP-binding.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1144A>G	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600679	0.28534	.	.	ENSG00000080007	ENST00000370336	T	0.15372	2.43	5.26	5.26	0.73747	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.042190	0.85682	D	0.000000	T	0.05914	0.0154	N	0.25245	0.725	0.80722	D	1	B	0.20368	0.044	B	0.23275	0.045	T	0.20907	-1.0261	10	0.28530	T	0.3	-6.2299	14.4365	0.67284	1.0:0.0:0.0:0.0	.	382	Q9NXZ2	DDX43_HUMAN	G	382	ENSP00000359361:S382G	ENSP00000359361:S382G	S	+	1	0	DDX43	74174510	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	8.307000	0.89964	2.109000	0.64355	0.533000	0.62120	AGT		0.388	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		26	10	0	0	0	0.003954	0	26	10				
SLC2A5	6518	broad.mit.edu	37	1	9100209	9100209	+	Missense_Mutation	SNP	G	G	C	rs202060523	byFrequency	TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:9100209G>C	ENST00000377424.4	-	6	790	c.611C>G	c.(610-612)gCg>gGg	p.A204G	SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145G|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89G	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	204					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCAGCGCCGCGGGGAC	0.677																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(610-612)gCg>gGg		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							18.0	22.0	21.0					1																	9100209		2176	4252	6428	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9100209G>C	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.611C>G	1.37:g.9100209G>C	ENSP00000366641:p.Ala204Gly					SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145G|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89G	p.A204G	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	6	790	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	204					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.611C>G	CCDS99.1	.	.	.	.	.	.	.	.	.	.	g	6.495	0.459593	0.12342	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.60171	0.21;0.21;0.21	4.79	-0.996	0.10218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.568097	0.19368	N	0.115973	T	0.41096	0.1144	L	0.35854	1.095	0.09310	N	1	B;B;B	0.17465	0.012;0.022;0.007	B;B;B	0.22753	0.028;0.041;0.028	T	0.31223	-0.9951	10	0.54805	T	0.06	.	5.6591	0.17658	0.3132:0.424:0.2629:0.0	.	160;145;204	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	G	204;187;145;89	ENSP00000366641:A204G;ENSP00000440688:A145G;ENSP00000442744:A89G	ENSP00000366641:A204G	A	-	2	0	SLC2A5	9022796	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.125000	0.15749	-0.051000	0.13334	-0.127000	0.14921	GCG		0.677	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		2	6	0	0	0	0.004672	0	2	6				
HCG17	414778	broad.mit.edu	37	6	30228210	30228210	+	lincRNA	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:30228210C>T	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		AGGATTACATCGCCCTGAACG	0.607																																						ENST00000453558.1																			0																																																			0							g.chr6:30228210C>T	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30228210C>T						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.607	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		24	29	0	0	0	0.004656	0	24	29				
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr8:52733124A>T	ENST00000360540.5	-	7	1267	c.861T>A	c.(859-861)acT>acA	p.T287T	PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.T211T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(859-861)acT>acA		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							192.0	190.0	191.0					8																	52733124		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733124A>T		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.861T>A	8.37:g.52733124A>T						PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR	p.T287T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1267	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	287					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.861T>A	CCDS6148.1																																																																																				0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		9	218	0	0	0	0.002450	0	9	218				
KIAA0101	9768	broad.mit.edu	37	15	64673564	64673564	+	Missense_Mutation	SNP	G	G	A	rs11554317		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr15:64673564G>A	ENST00000300035.4	-	1	145	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	KIAA0101_ENST00000380258.2_Missense_Mutation_p.R3W|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R3W|KIAA0101_ENST00000558250.1_5'Flank|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R3W	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	3					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GCTTTAGTCCGCACCATGTTC	0.577																																						ENST00000300035.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(7-9)Cgg>Tgg		KIAA0101							146.0	148.0	147.0					15																	64673564		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64673564G>A	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.7C>T	15.37:g.64673564G>A	ENSP00000300035:p.Arg3Trp					KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R3W|KIAA0101_ENST00000380258.2_Missense_Mutation_p.R3W|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R3W	p.R3W	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN			1	145	-			3					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.7C>T	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523621	0.44866	.	.	ENSG00000166803	ENST00000300035;ENST00000380258	T	0.67865	-0.29	4.94	4.94	0.65067	.	0.061039	0.64402	D	0.000006	T	0.79464	0.4450	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.966	T	0.81006	-0.1128	10	0.87932	D	0	2.1822	15.37	0.74554	0.0:0.0:1.0:0.0	rs11554317;rs11554317	3;3	A6NNU5;Q15004	.;PAF_HUMAN	W	3	ENSP00000300035:R3W	ENSP00000300035:R3W	R	-	1	2	KIAA0101	62460617	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.576000	0.46033	2.731000	0.93534	0.561000	0.74099	CGG		0.577	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		5	228	0	0	0	0.001984	0	5	228				
CFAP44	55779	broad.mit.edu	37	3	113098287	113098287	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:113098287A>G	ENST00000295868.2	-	17	2326	c.2164T>C	c.(2164-2166)Ttt>Ctt	p.F722L	WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Missense_Mutation_p.F722L	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctGAAATTCTTTTTCT	0.453																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2164-2166)Ttt>Ctt		WD repeat domain 52							108.0	107.0	107.0					3																	113098287		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098287A>G																												ENST00000295868.2:c.2164T>C	3.37:g.113098287A>G	ENSP00000295868:p.Phe722Leu					WDR52_ENST00000295868.2_Missense_Mutation_p.F722L	p.F722L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2230	-			722			Glu-rich.			Missense_Mutation	SNP	ENST00000295868.2	37	c.2164T>C	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812601	0.02798	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.41400	2.91;1.0	5.42	-10.8	0.00216	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08066	-1.0740	9	0.09843	T	0.71	.	5.3603	0.16083	0.092:0.1499:0.4325:0.3257	.	722	Q96MT7	WDR52_HUMAN	L	722	ENSP00000377428:F722L;ENSP00000295868:F722L	ENSP00000295868:F722L	F	-	1	0	WDR52	114580977	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-2.502000	0.00965	-2.872000	0.00322	-0.376000	0.06991	TTT		0.453	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			31	51	0	0	0	0.002096	0	31	51				
TTN	7273	broad.mit.edu	37	2	179480443	179480443	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179480443C>G	ENST00000591111.1	-	208	43686	c.43462G>C	c.(43462-43464)Gtt>Ctt	p.V14488L	TTN_ENST00000359218.5_Missense_Mutation_p.V7189L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7064L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13561L|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7256L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V16129L			Q8WZ42	TITIN_HUMAN	titin	14488	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAGCACAAACTTTAAATAAG	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48385-48387)Gtt>Ctt		titin							162.0	153.0	156.0					2																	179480443		1884	4104	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480443C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43462G>C	2.37:g.179480443C>G	ENSP00000465570:p.Val14488Leu					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7256L|TTN_ENST00000460472.2_Missense_Mutation_p.V7064L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14488L|TTN_ENST00000359218.5_Missense_Mutation_p.V7189L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13561L	p.V16129L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	48609	-			14488			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48385G>C		.	.	.	.	.	.	.	.	.	.	C	15.75	2.925070	0.52759	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87454	0.6181	M	0.88704	2.975	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.88943	0.3381	9	0.87932	D	0	.	19.9601	0.97247	0.0:1.0:0.0:0.0	.	7064;7189;7256;14488	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13561;7064;7256;7189;7064	ENSP00000343764:V13561L;ENSP00000434586:V7064L;ENSP00000340554:V7256L;ENSP00000352154:V7189L	ENSP00000340554:V7256L	V	-	1	0	TTN	179188688	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.686000	0.84128	2.720000	0.93068	0.655000	0.94253	GTT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	149	0	0	0	0.000248	0	4	149				
TRIM48	79097	broad.mit.edu	37	11	55035824	55035824	+	Splice_Site	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55035824A>G	ENST00000417545.2	+	4	641		c.e4-1			NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTTTTACAGGCTTTTGGA	0.343																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e4-1		tripartite motif containing 48							83.0	87.0	86.0					11																	55035824		2188	4266	6454	SO:0001630	splice_region_variant	79097					intracellular	zinc ion binding	g.chr11:55035824A>G	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.556-1A>G	11.37:g.55035824A>G								NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	641	+								Q9BUW4	Splice_Site	SNP	ENST00000417545.2	37		CCDS7947.2	.	.	.	.	.	.	.	.	.	.	a	2.991	-0.208220	0.06180	.	.	ENSG00000150244	ENST00000417545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22240	N	0.999267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM48	54792400	0.348000	0.24861	0.235000	0.24058	0.235000	0.25334	0.422000	0.21296	0.103000	0.17682	0.102000	0.15555	.		0.343	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1		Intron	30	47	0	0	0	0.002445	0	30	47				
PLA2G2D	26279	broad.mit.edu	37	1	20442002	20442002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:20442002C>T	ENST00000375105.3	-	3	348	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	97					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTCACAGCAGTGGATGTT	0.547										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	ENST00000375105.3																			0				endometrium(1)|lung(2)	3						c.(289-291)tGc>tAc		phospholipase A2, group IID							114.0	100.0	105.0					1																	20442002		2203	4300	6503	SO:0001583	missense	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20442002C>T	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.290G>A	1.37:g.20442002C>T	ENSP00000364246:p.Cys97Tyr	Multiple Myeloma(11;0.12)					p.C97Y	NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	348	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	97					A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	ENST00000375105.3	37	c.290G>A	CCDS203.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064393	0.55432	.	.	ENSG00000117215	ENST00000375105	T	0.52526	0.66	5.6	5.6	0.85130	Phospholipase A2 (3);	0.000000	0.64402	D	0.000010	T	0.79173	0.4401	H	0.97077	3.935	0.50171	D	0.999858	D	0.89917	1.0	D	0.97110	1.0	D	0.85752	0.1344	10	0.87932	D	0	-8.1914	15.123	0.72460	0.0:1.0:0.0:0.0	.	97	Q9UNK4	PA2GD_HUMAN	Y	97	ENSP00000364246:C97Y	ENSP00000364246:C97Y	C	-	2	0	PLA2G2D	20314589	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	4.132000	0.57977	2.648000	0.89879	0.561000	0.74099	TGC		0.547	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			28	44	0	0	0	0.001786	0	28	44				
MAGI3	260425	broad.mit.edu	37	1	114216013	114216013	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:114216013A>G	ENST00000307546.9	+	19	3190	c.3115A>G	c.(3115-3117)Aag>Gag	p.K1039E	MAGI3_ENST00000369615.1_Missense_Mutation_p.K1039E|MAGI3_ENST00000369617.4_Missense_Mutation_p.K1064E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K1039E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1064					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGAGGGGGGAAGGAGTACAA	0.488																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3115-3117)Aag>Gag		membrane associated guanylate kinase, WW and PDZ domain containing 3							105.0	112.0	110.0					1																	114216013		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114216013A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3115A>G	1.37:g.114216013A>G	ENSP00000304604:p.Lys1039Glu					MAGI3_ENST00000369617.4_Missense_Mutation_p.K1064E|MAGI3_ENST00000307546.9_Missense_Mutation_p.K1039E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K1039E	p.K1039E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3177	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1064					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3115A>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951004	0.73787	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.99	4.87	0.63330	.	0.046113	0.85682	D	0.000000	T	0.26919	0.0659	L	0.39397	1.21	0.58432	D	0.999992	D;P;D	0.59767	0.986;0.941;0.985	D;P;P	0.63703	0.917;0.7;0.81	T	0.05716	-1.0868	10	0.72032	D	0.01	-0.3712	11.9995	0.53222	0.9328:0.0:0.0672:0.0	.	1039;1039;1064	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	E	1064;1039;1039;1039;79	ENSP00000358630:K1064E;ENSP00000304604:K1039E;ENSP00000358628:K1039E;ENSP00000358624:K1039E	ENSP00000304604:K1039E	K	+	1	0	MAGI3	114017536	1.000000	0.71417	0.853000	0.33588	0.981000	0.71138	7.359000	0.79477	1.098000	0.41479	0.528000	0.53228	AAG		0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	191	0	0	0	0.000602	0	4	191				
TNN	63923	broad.mit.edu	37	1	175046809	175046809	+	Silent	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:175046809C>A	ENST00000239462.4	+	2	368	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	85					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACATCATCTTCAGGCACA	0.607																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(253-255)atC>atA		tenascin N							64.0	55.0	58.0					1																	175046809		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046809C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.255C>A	1.37:g.175046809C>A							p.I85I	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	368	+		Breast(1374;0.000962)	85					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.255C>A	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		26	34	1	0	6.32553e-13	0.004656	9.98028e-13	26	34				
SNED1	25992	broad.mit.edu	37	2	242003028	242003028	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:242003028C>T	ENST00000310397.8	+	18	2396	c.2396C>T	c.(2395-2397)cCg>cTg	p.P799L	SNED1_ENST00000342631.6_Missense_Mutation_p.P799L|SNED1_ENST00000401884.1_Missense_Mutation_p.P799L|SNED1_ENST00000405547.3_Missense_Mutation_p.P799L|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	799	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGCTCACCCGTGCAGAAAT	0.622																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2395-2397)cCg>cTg		sushi, nidogen and EGF-like domains 1							37.0	44.0	42.0					2																	242003028		1947	4128	6075	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242003028C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2396C>T	2.37:g.242003028C>T	ENSP00000308893:p.Pro799Leu					AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.P799L|SNED1_ENST00000405547.3_Missense_Mutation_p.P799L|SNED1_ENST00000342631.6_Missense_Mutation_p.P799L	p.P799L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	18	2396	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	799			EGF-like 12; calcium-binding (Potential).		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2396C>T	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169564	0.21621	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	4.12	3.23	0.37069	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.116848	0.38663	N	0.001618	D	0.97408	0.9152	M	0.89353	3.025	0.52501	D	0.99995	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.94	D	0.97124	0.9813	10	0.87932	D	0	.	14.4845	0.67606	0.0:0.9172:0.0:0.0828	.	799;799	B5MEF5;Q8TER0	.;SNED1_HUMAN	L	799	ENSP00000384871:P799L;ENSP00000386007:P799L;ENSP00000308893:P799L;ENSP00000342992:P799L	ENSP00000308893:P799L	P	+	2	0	SNED1	241651701	0.996000	0.38824	0.647000	0.29507	0.011000	0.07611	3.533000	0.53561	0.231000	0.21079	-1.595000	0.00837	CCG		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		4	12	0	0	0	0.001168	0	4	12				
HMCN1	83872	broad.mit.edu	37	1	186045567	186045567	+	Silent	SNP	A	A	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:186045567A>T	ENST00000271588.4	+	54	8527	c.8298A>T	c.(8296-8298)ccA>ccT	p.P2766P	HMCN1_ENST00000367492.2_Silent_p.P2766P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2766	Ig-like C2-type 26.				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						TAGTTCCTCCAAGTTTTCAGA	0.378																																						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.(8296-8298)ccA>ccT		hemicentin 1							94.0	77.0	83.0					1																	186045567		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045567A>T	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.8298A>T	1.37:g.186045567A>T						HMCN1_ENST00000367492.2_Silent_p.P2766P	p.P2766P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			54	8527	+			2766			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8298A>T	CCDS30956.1																																																																																				0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	21	0	0	0	0.001368	0	12	21				
ZAN	7455	broad.mit.edu	37	7	100370923	100370923	+	RNA	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:100370923C>T	ENST00000348028.3	+	0	5606				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTGCCCACCTGGCAGCAGC	0.587																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							39.0	43.0	42.0					7																	100370923		1956	4153	6109			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100370923C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100370923C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5589	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	12.16	1.854744	0.32791	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	4.58	3.69	0.42338	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.768798	0.11140	N	0.595390	D	0.88665	0.6498	M	0.63169	1.94	0.09310	N	1	B;B	0.18863	0.025;0.031	B;B	0.20767	0.018;0.031	T	0.80879	-0.1185	10	0.56958	D	0.05	.	9.6112	0.39663	0.0:0.8974:0.0:0.1026	.	1814;1814	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1814;1814;1814;391	ENSP00000445943:P1814L;ENSP00000445091:P1814L;ENSP00000444427:P1814L;ENSP00000441117:P391L	ENSP00000423579:P1814L	P	+	2	0	ZAN	100208859	0.000000	0.05858	0.001000	0.08648	0.429000	0.31625	0.595000	0.24029	1.235000	0.43724	0.297000	0.19635	CCT		0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		28	35	0	0	0	0.005443	0	28	35				
OR5M9	390162	broad.mit.edu	37	11	56230846	56230846	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:56230846G>C	ENST00000279791.1	-	1	31	c.32C>G	c.(31-33)aCt>aGt	p.T11S		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCCAGGAGAGTAAATTCTGT	0.418																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(31-33)aCt>aGt		olfactory receptor, family 5, subfamily M, member 9							28.0	29.0	29.0					11																	56230846		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230846G>C	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.32C>G	11.37:g.56230846G>C	ENSP00000279791:p.Thr11Ser						p.T11S	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	31	-	Esophageal squamous(21;0.00448)		11					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.32C>G	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	8.686	0.906258	0.17760	.	.	ENSG00000150269	ENST00000279791	T	0.00580	6.43	4.79	3.57	0.40892	.	0.567955	0.14479	N	0.317076	T	0.00608	0.0020	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47761	-0.9092	10	0.87932	D	0	-0.3636	8.7816	0.34795	0.9064:0.0:0.0935:0.0	.	11	Q8NGP3	OR5M9_HUMAN	S	11	ENSP00000279791:T11S	ENSP00000279791:T11S	T	-	2	0	OR5M9	55987422	0.012000	0.17670	0.269000	0.24586	0.436000	0.31835	2.533000	0.45667	0.759000	0.33084	-0.490000	0.04691	ACT		0.418	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		9	37	0	0	0	0.004482	0	9	37				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	43	0	0	0	0.008871	0	18	43				
OR4X1	390113	broad.mit.edu	37	11	48285724	48285724	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:48285724C>A	ENST00000320048.1	+	1	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(310-312)ttC>ttA		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							76.0	72.0	73.0					11																	48285724		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285724C>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.312C>A	11.37:g.48285724C>A	ENSP00000321506:p.Phe104Leu						p.F104L	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	312	+			104					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.312C>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752812	0.31046	.	.	ENSG00000176567	ENST00000320048	T	0.00408	7.54	4.26	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.20807	0.61	0.21325	N	0.999722	B	0.15719	0.014	B	0.18263	0.021	T	0.21586	-1.0241	9	0.18276	T	0.48	.	6.4776	0.22045	0.0:0.6917:0.0:0.3083	.	104	Q8NH49	OR4X1_HUMAN	L	104	ENSP00000321506:F104L	ENSP00000321506:F104L	F	+	3	2	OR4X1	48242300	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-0.985000	0.03751	0.532000	0.28657	0.558000	0.71614	TTC		0.498	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		33	53	1	0	1.62565e-12	0.002445	2.50915e-12	33	53				
CROCCP3	114819	broad.mit.edu	37	1	16811337	16811337	+	RNA	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:16811337C>G	ENST00000263511.4	-	0	1552					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GTCCCTTAGGCTCTGCTGTAG	0.632																																						ENST00000263511.4																			0																																																			0							g.chr1:16811337C>G	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16811337C>G								NR_023386.1						0	1552	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.632	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		2	3	0	0	0	0.000248	0	2	3				
SPECC1L	23384	broad.mit.edu	37	22	24808653	24808653	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr22:24808653G>T	ENST00000314328.9	+	16	3527	c.3242G>T	c.(3241-3243)aGt>aTt	p.S1081I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.S1081I|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S1042I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1081	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GCAGCTGAAAGTGTCGGCATC	0.512																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(3241-3243)aGt>aTt		sperm antigen with calponin homology and coiled-coil domains 1-like							102.0	83.0	90.0					22																	24808653		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24808653G>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3242G>T	22.37:g.24808653G>T	ENSP00000325785:p.Ser1081Ile					SPECC1L_ENST00000541492.1_Missense_Mutation_p.S1042I|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S1081I|KB-1896H10.1_ENST00000358654.2_3'UTR	p.S1081I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			16	3527	+			1081			CH.		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.3242G>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018162	0.93404	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	D;D;T	0.95377	-3.69;-3.69;0.2	5.67	5.67	0.87782	Calponin homology domain (5);	0.081063	0.85682	D	0.000000	D	0.97794	0.9276	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.98312	1.0524	10	0.87932	D	0	-20.4415	18.7488	0.91806	0.0:0.0:1.0:0.0	.	1042;1081	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	1081;1081;1042	ENSP00000393363:S1081I;ENSP00000325785:S1081I;ENSP00000439633:S1042I	ENSP00000325785:S1081I	S	+	2	0	SPECC1L	23138653	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	9.523000	0.98034	2.686000	0.91538	0.561000	0.74099	AGT		0.512	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		4	63	1	0	1.23904e-05	0.000602	1.79534e-05	4	63				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	465	0	0	0	0.004482	0	8	465				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	113	0	0	0	0.000248	0	4	113				
APPBP2	10513	broad.mit.edu	37	17	58556547	58556547	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:58556547C>G	ENST00000083182.3	-	4	752	c.465G>C	c.(463-465)gaG>gaC	p.E155D		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	155					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATGAAGCATCTCATCGTGTA	0.383																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(463-465)gaG>gaC		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							113.0	98.0	103.0					17																	58556547		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58556547C>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.465G>C	17.37:g.58556547C>G	ENSP00000083182:p.Glu155Asp						p.E155D	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		4	752	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		155					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.465G>C	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.325955	0.41197	.	.	ENSG00000062725	ENST00000083182	T	0.76186	-1.0	5.3	4.32	0.51571	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	N	0.19112	0.55	0.58432	D	0.999997	P	0.35745	0.518	P	0.48654	0.585	T	0.58685	-0.7593	10	0.12103	T	0.63	-11.0151	11.0829	0.48070	0.0:0.8591:0.0:0.1409	.	155	Q92624	APBP2_HUMAN	D	155	ENSP00000083182:E155D	ENSP00000083182:E155D	E	-	3	2	APPBP2	55911329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.347000	0.59373	2.628000	0.89032	0.655000	0.94253	GAG		0.383	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		30	55	0	0	0	0.002445	0	30	55				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	115	0	0	0	0.001168	0	3	115				
ABCF2	10061	broad.mit.edu	37	7	150911221	150911221	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:150911221G>A	ENST00000287844.2	-	15	1900	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	ABCF2_ENST00000222388.2_Silent_p.D597D	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	597	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCAGGATGTCTCCAGGCC	0.542																																						ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1789-1791)gaC>gaT		ATP-binding cassette, sub-family F (GCN20), member 2							108.0	88.0	95.0					7																	150911221		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150911221G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1791C>T	7.37:g.150911221G>A						ABCF2_ENST00000222388.2_Silent_p.D597D	p.D597D	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	1900	-			597			ABC transporter 2.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.1791C>T	CCDS5923.1																																																																																				0.542	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		26	41	0	0	0	0.003954	0	26	41				
TTN	7273	broad.mit.edu	37	2	179422678	179422678	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179422678G>C	ENST00000591111.1	-	278	82704	c.82480C>G	c.(82480-82482)Cta>Gta	p.L27494V	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20195V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20070V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26567V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20262V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29135V			Q8WZ42	TITIN_HUMAN	titin	27494					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(87403-87405)Cta>Gta		titin							179.0	179.0	179.0					2																	179422678		1935	4130	6065	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422678G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82480C>G	2.37:g.179422678G>C	ENSP00000465570:p.Leu27494Val					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20262V|TTN_ENST00000460472.2_Missense_Mutation_p.L20070V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L27494V|TTN_ENST00000359218.5_Missense_Mutation_p.L20195V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26567V	p.L29135V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		328	87627	-			27494			Fibronectin type-III 112.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.87403C>G		.	.	.	.	.	.	.	.	.	.	G	7.360	0.624616	0.14193	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.63	2.87	0.33458	Immunoglobulin subtype (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.52500	0.1738	L	0.40543	1.245	0.50467	D	0.999878	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.51387	-0.8712	9	0.87932	D	0	.	11.3785	0.49743	0.198:0.0:0.802:0.0	.	20070;20195;20262;27494	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26567;20070;20262;20195;20067	ENSP00000343764:L26567V;ENSP00000434586:L20070V;ENSP00000340554:L20262V;ENSP00000352154:L20195V	ENSP00000340554:L20262V	L	-	1	2	TTN	179130924	1.000000	0.71417	0.894000	0.35097	0.224000	0.24922	3.139000	0.50577	0.418000	0.25898	0.563000	0.77884	CTA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	229	0	0	0	0.008871	0	18	229				
ADAP2	55803	broad.mit.edu	37	17	29271931	29271931	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:29271931A>G	ENST00000330889.3	+	6	852	c.517A>G	c.(517-519)Agc>Ggc	p.S173G	ADAP2_ENST00000580525.1_Missense_Mutation_p.S179G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	173	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCAGGGTAAAAGCCCCAAAGC	0.498																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(517-519)Agc>Ggc		ArfGAP with dual PH domains 2							88.0	90.0	90.0					17																	29271931		2203	4300	6503	SO:0001583	missense	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29271931A>G	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.517A>G	17.37:g.29271931A>G	ENSP00000329468:p.Ser173Gly					ADAP2_ENST00000580525.1_Missense_Mutation_p.S179G	p.S173G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			6	852	+			173			PH 1.		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	c.517A>G	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	A	8.664	0.901146	0.17760	.	.	ENSG00000184060	ENST00000330889	T	0.22743	1.94	5.19	-2.41	0.06562	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	1.645970	0.03515	N	0.220098	T	0.07052	0.0179	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27905	-1.0060	10	0.34782	T	0.22	.	6.2199	0.20675	0.4113:0.1203:0.4683:0.0	.	179;173;173	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	G	173	ENSP00000329468:S173G	ENSP00000329468:S173G	S	+	1	0	ADAP2	26296057	0.870000	0.30015	0.011000	0.14972	0.016000	0.09150	1.069000	0.30641	-0.371000	0.08004	-0.899000	0.02877	AGC		0.498	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		3	111	0	0	0	0.004672	0	3	111				
SELP	6403	broad.mit.edu	37	1	169581487	169581487	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:169581487C>A	ENST00000263686.6	-	6	966	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SELP_ENST00000458599.2_Missense_Mutation_p.G310V|SELP_ENST00000367794.2_Missense_Mutation_p.G310V|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.G310V|SELP_ENST00000367792.2_Missense_Mutation_p.G310V|SELP_ENST00000367786.2_Missense_Mutation_p.G310V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGTCCATACCCCCGAGGCTGT	0.488																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(928-930)gGg>gTg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						133.0	108.0	116.0					1																	169581487		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581487C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.929G>T	1.37:g.169581487C>A	ENSP00000263686:p.Gly310Val					SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.G310V|SELP_ENST00000367794.2_Missense_Mutation_p.G310V|SELP_ENST00000367791.2_Missense_Mutation_p.G310V|SELP_ENST00000367793.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G310V|SELP_ENST00000367792.2_Missense_Mutation_p.G310V	p.G310V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			6	966	-	all_hematologic(923;0.208)		310			Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.929G>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873414	0.72180	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	T;T;T;T;T;T	0.77358	0.13;0.13;0.13;0.13;0.13;-1.09	5.39	4.47	0.54385	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.41294	D	0.000907	D	0.89931	0.6858	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92723	0.6193	10	0.87932	D	0	.	12.7542	0.57325	0.0:0.92:0.0:0.08	.	310;310;310	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	V	310;310;309;310;310;310;310;310;310;310;295	ENSP00000263686:G310V;ENSP00000356768:G310V;ENSP00000356766:G310V;ENSP00000356765:G310V;ENSP00000356760:G310V;ENSP00000399368:G295V	ENSP00000263686:G310V	G	-	2	0	SELP	167848111	0.996000	0.38824	0.020000	0.16555	0.919000	0.55068	4.742000	0.62103	1.264000	0.44198	0.650000	0.86243	GGG		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		5	102	1	0	5.9392e-07	0.001168	8.78507e-07	5	102				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	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.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	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)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	4	0	0	0	0.005443	0	25	4				
ABCC3	8714	broad.mit.edu	37	17	48733300	48733300	+	Silent	SNP	C	C	T			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:48733300C>T	ENST00000285238.8	+	2	233	c.153C>T	c.(151-153)tgC>tgT	p.C51C	ABCC3_ENST00000427699.1_Silent_p.C51C	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	51					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCCTGCCCTGCTACTTGCTCT	0.597																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(151-153)tgC>tgT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						130.0	104.0	113.0					17																	48733300		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48733300C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.153C>T	17.37:g.48733300C>T						ABCC3_ENST00000427699.1_Silent_p.C51C	p.C51C	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		2	233	+			51					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.153C>T	CCDS32681.1																																																																																				0.597	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		9	57	0	0	0	0.006214	0	9	57				
VEGFC	7424	broad.mit.edu	37	4	177605151	177605151	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605151G>C	ENST00000280193.2	-	7	1604	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	397					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAATCCTGGCTCACAAGCC	0.418																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(1189-1191)Cca>Gca		vascular endothelial growth factor C							120.0	112.0	115.0					4																	177605151		1918	4138	6056	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177605151G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1189C>G	4.37:g.177605151G>C	ENSP00000280193:p.Pro397Ala					RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	p.P397A	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	7	1604	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	397					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1189C>G	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	4.239	0.043283	0.08196	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	5.57	0.84162	.	0.546575	0.18940	N	0.126977	T	0.36166	0.0957	L	0.33485	1.01	0.19575	N	0.999965	B	0.02656	0.0	B	0.04013	0.001	T	0.13872	-1.0493	9	0.07644	T	0.81	0.7196	16.422	0.83766	0.0:0.14:0.86:0.0	.	397	P49767	VEGFC_HUMAN	A	397	.	ENSP00000280193:P397A	P	-	1	0	VEGFC	177842145	0.993000	0.37304	0.833000	0.33012	0.217000	0.24651	4.262000	0.58847	2.780000	0.95670	0.655000	0.94253	CCA		0.418	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		50	53	0	0	0	0.003610	0	50	53				
UGT1A6	54578	broad.mit.edu	37	2	234602346	234602346	+	Silent	SNP	C	C	T	rs536034017		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:234602346C>T	ENST00000305139.6	+	1	835	c.696C>T	c.(694-696)ctC>ctT	p.L232L	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_5'UTR|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	232					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ATGAAGAACTCGCATCAGCTG	0.393																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(694-696)ctC>ctT									162.0	168.0	166.0					2																	234602346		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234602346C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.696C>T	2.37:g.234602346C>T						UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'UTR|UGT1A6_ENST00000373424.1_Intron	p.L232L	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	835	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.696C>T	CCDS2507.1																																																																																				0.393	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		13	176	0	0	0	0.001368	0	13	176				
TRPV5	56302	broad.mit.edu	37	7	142609711	142609711	+	Silent	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:142609711G>A	ENST00000265310.1	-	13	2073	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	575					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATCATGGCGATGAACAAGT	0.542																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1723-1725)atC>atT		transient receptor potential cation channel, subfamily V, member 5							139.0	120.0	126.0					7																	142609711		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609711G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1725C>T	7.37:g.142609711G>A							p.I575I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			13	2073	-	Melanoma(164;0.059)		575					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1725C>T	CCDS5875.1																																																																																				0.542	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		15	107	0	0	0	0.003163	0	15	107				
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	259	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(775-777)agA>agG		suprabasin							56.0	57.0	57.0					19																	36018407		692	1591	2283	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018407T>C	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.777A>G	19.37:g.36018407T>C						SBSN_ENST00000518157.1_Intron	p.R259R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	805	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		132					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.777A>G	CCDS54253.1																																																																																				0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		3	4	0	0	0	0.004672	0	3	4				
VEGFC	7424	broad.mit.edu	37	4	177605165	177605165	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605165T>C	ENST00000280193.2	-	7	1590	c.1175A>G	c.(1174-1176)cAg>cGg	p.Q392R	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	392					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACAAGCCTTCTGGCGGTTCGT	0.418																																						ENST00000280193.2																			0				biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(1174-1176)cAg>cGg		vascular endothelial growth factor C							107.0	99.0	102.0					4																	177605165		1914	4133	6047	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177605165T>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1175A>G	4.37:g.177605165T>C	ENSP00000280193:p.Gln392Arg					RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	p.Q392R	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	7	1590	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	392					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1175A>G	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.288909	0.01387	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	0.28	0.15682	.	0.568817	0.18064	N	0.152849	T	0.10423	0.0255	N	0.02539	-0.55	0.20196	N	0.99993	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	9	0.08179	T	0.78	1.2901	4.4511	0.11621	0.3601:0.0:0.4597:0.1802	.	392	P49767	VEGFC_HUMAN	R	392	.	ENSP00000280193:Q392R	Q	-	2	0	VEGFC	177842159	0.999000	0.42202	0.084000	0.20598	0.002000	0.02628	1.097000	0.30988	0.108000	0.17862	-1.001000	0.02504	CAG		0.418	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		49	55	0	0	0	0.003610	0	49	55				
CELSR3	1951	broad.mit.edu	37	3	48694173	48694173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:48694173G>A	ENST00000164024.4	-	2	4637	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1453C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1453	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCTCGCGCCGCGCGCAG	0.726																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(4357-4359)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 3							13.0	12.0	13.0					3																	48694173		2188	4279	6467	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48694173G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4357C>T	3.37:g.48694173G>A	ENSP00000164024:p.Arg1453Cys					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1453C	p.R1453C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	4637	-			1453			EGF-like 2; calcium-binding.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.4357C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214781	0.79352	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91686	-2.89;-2.89	4.9	4.9	0.64082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94085	0.8104	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61275	0.886;0.869	D	0.93921	0.7206	9	0.66056	D	0.02	.	11.1882	0.48669	0.0:0.0:0.6866:0.3134	.	1453;1523	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	1453	ENSP00000164024:R1453C;ENSP00000445694:R1453C	ENSP00000164024:R1453C	R	-	1	0	CELSR3	48669177	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	1.932000	0.40143	2.560000	0.86352	0.549000	0.68633	CGC		0.726	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	7	0	0	0	0.001984	0	5	7				
PNLIPRP1	5407	broad.mit.edu	37	10	118364906	118364906	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:118364906T>C	ENST00000528052.1	+	12	1252	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L394P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L394P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	394	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGGGGATTCTCAAACCAGGC	0.383																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(1180-1182)cTc>cCc		pancreatic lipase-related protein 1							144.0	142.0	143.0					10																	118364906		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118364906T>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1181T>C	10.37:g.118364906T>C	ENSP00000433933:p.Leu394Pro					PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L394P|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L394P	p.L394P			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1252	+			394			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1181T>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.018264	0.54576	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.59906	0.23;0.23;0.23	5.63	5.63	0.86233	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.522720	0.19815	N	0.105455	T	0.75140	0.3809	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76969	-0.2762	10	0.62326	D	0.03	-1.3776	14.8496	0.70286	0.0:0.0:0.0:1.0	.	394	P54315	LIPR1_HUMAN	P	394	ENSP00000351695:L394P;ENSP00000433933:L394P;ENSP00000434159:L394P	ENSP00000351695:L394P	L	+	2	0	PNLIPRP1	118354896	0.612000	0.27000	0.038000	0.18304	0.019000	0.09904	5.883000	0.69721	2.137000	0.66172	0.449000	0.29647	CTC		0.383	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		3	126	0	0	0	0.004672	0	3	126				
CLCN6	1185	broad.mit.edu	37	1	11883807	11883810	+	Frame_Shift_Del	DEL	TGAA	TGAA	-	rs369425506		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:11883807_11883810delTGAA	ENST00000346436.6	+	7	549_552	c.497_500delTGAA	c.(496-501)ctgaatfs	p.LN166fs	CLCN6_ENST00000376496.3_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000376487.3_Frame_Shift_Del_p.LN144fs|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.LN166fs	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	166					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGCTATCTGAATGGCGTAAAG	0.554																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(496-501)ctfs		chloride channel, voltage-sensitive 6																																				SO:0001589	frameshift_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11883807_11883810delTGAA	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.497_500delTGAA	1.37:g.11883807_11883810delTGAA	ENSP00000234488:p.Leu166fs					CLCN6_ENST00000376487.3_Frame_Shift_Del_p.LN144fs|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.LN166fs	p.LN166fs	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	549_552	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	166					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Frame_Shift_Del	DEL	ENST00000346436.6	37	c.497_500delTGAA	CCDS138.1																																																																																				0.554	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		29	79						29	79	---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49658514	49658514	+	Frame_Shift_Del	DEL	G	G	-	rs375991136	byFrequency	TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:49658514delG	ENST00000249601.4	-	9	1954	c.1658delC	c.(1657-1659)ccgfs	p.P553fs	ARHGAP22_ENST00000435790.2_Frame_Shift_Del_p.P559fs|ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.P569fs|ARHGAP22_ENST00000374172.1_Frame_Shift_Del_p.P444fs|ARHGAP22_ENST00000417247.2_Frame_Shift_Del_p.P463fs|ARHGAP22_ENST00000477708.2_Frame_Shift_Del_p.P386fs|ARHGAP22_ENST00000374170.1_Frame_Shift_Del_p.P394fs	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	553	Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGGGGAGCGGGGAGGGCTC	0.726																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1657-1659)cgfs		Rho GTPase activating protein 22							12.0	13.0	12.0					10																	49658514		2147	4225	6372	SO:0001589	frameshift_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49658514delG	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1658delC	10.37:g.49658514delG	ENSP00000249601:p.Pro553fs					ARHGAP22_ENST00000477708.2_Frame_Shift_Del_p.P386fs|ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.P569fs|ARHGAP22_ENST00000417247.2_Frame_Shift_Del_p.P463fs|ARHGAP22_ENST00000374172.1_Frame_Shift_Del_p.P444fs|ARHGAP22_ENST00000435790.2_Frame_Shift_Del_p.P559fs|ARHGAP22_ENST00000374170.1_Frame_Shift_Del_p.P394fs	p.P553fs	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			9	1954	-			553			Ser-rich.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Frame_Shift_Del	DEL	ENST00000249601.4	37	c.1658delC	CCDS7227.1																																																																																				0.726	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		2	4						2	4	---	---	---	---
