#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
GRHL2	79977	broad.mit.edu	37	8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	504					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGATGATGAACGAGAAGGGTA	0.421																																						ENST00000251808.3	1.000000	0.260000	4.800000e-01	3.200000e-01	0.390000	0.415425	0.390000	0.390000																										0				28						c.(1510-1512)cgafs		grainyhead-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	79977	0	0					g.chr8:102649148_102649149insCTCT	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	Exception_encountered	chr8.hg19:g.102649148_102649149insCTCT	ENSP00000251808:p.Arg504fs	0					GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	p.R504fs	NM_024915.3	NP_079191.2	1	2	3	2.071426	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)	12	1847_1848	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		A1L303|Q6NT03|Q9H8B8	Frame_Shift_Ins	INS	ENST00000251808.3	0	1	hg19	c.1509_1510insCTCT	CCDS34931.1	0																																																																																								0.314252		TCGA-2J-AABF-01A-31D-A40W-08	0.421	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	1		2	2		0		0	0	120		120	116	1	1.840000	-6.350689	1	0.310000	NM_024915			29	40		456	452	0		1	0	0	0	0	120	0		1.000000	6.769015e-01	0	0	0	38	0	29	456
E2F8	79733	broad.mit.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	rs562160670		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463																																						ENST00000527884.1	1.000000	0.790000	1	8.900000e-01	0.990000	0.962976	0.990000	1.000000																										1	Substitution - Nonsense(1)	p.R183*(1)	large_intestine(1)	42						c.(547-549)Cga>Tga		E2F transcription factor 8							112.0	92.0	98.0					11																	19256510		2199	4293	6492	SO:0001587	stop_gained	79733	0	0					g.chr11:19256510G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.547C>T	chr11.hg19:g.19256510G>A	ENSP00000434199:p.Arg183*	0					E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	p.R183*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	0	1	1	1.934780	A0AVK6	E2F8_HUMAN		5	779	-			A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Nonsense_Mutation	SNP	ENST00000527884.1	0	1	hg19	c.547C>T	CCDS7849.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.598033	0.98879	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	.	.	.	5.48	4.55	0.56014	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.748	9.211	0.37318	0.0759:0.0:0.7658:0.1583	.	.	.	.	X	183	.	ENSP00000250024:R183X	R	-	1	2	2	E2F8	19213086	19213086	1.000000	0.71417	0.990000	0.47175	0.703000	0.40648	2.374000	0.44274	1.245000	0.43885	0.655000	0.94253	CGA	0.255784		TCGA-2J-AABF-01A-31D-A40W-08	0.463	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	1	0	1		2	2	2	0		0	0	129		129	127	1	1.840000	-3.116769	1	0.310000	NM_024680			59	60		287	283	1		1	0		0	0	129	0		1.000000	5.309898e-01	0	1	0	9	0	59	287
ABTB2	25841	broad.mit.edu	37	11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	696					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGGCTCGACGCATCACTTTC	0.657																																						ENST00000435224.2	0.770000	0.310000	6.500000e-01	4.000000e-01	0.510000	0.532443	0.510000	0.510000																										0				25						c.(2086-2088)gCg>gTg		ankyrin repeat and BTB (POZ) domain containing 2							74.0	60.0	65.0					11																	34184254		2202	4298	6500	SO:0001583	missense	25841	2	121410	31				g.chr11:34184254G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2087C>T	chr11.hg19:g.34184254G>A	ENSP00000410157:p.Ala696Val	0					ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	p.A696V	NM_145804.2	NP_665803.2	0	1	1	1.934780	Q8N961	ABTB2_HUMAN		10	2511	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	1	1	hg19	c.2087C>T	CCDS7890.2	0	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696873	0.15106	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60171	0.21;0.21	5.11	4.18	0.49190	5.11	4.18	0.49190	.	0.887861	0.09993	N	0.729498	T	0.46658	0.1404	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.31779	-0.9931	10	0.30078	T	0.28	-19.4398	15.1479	0.72674	0.0:0.1422:0.8578:0.0	.	510	Q8N961	ABTB2_HUMAN	V	696;510	ENSP00000410157:A696V;ENSP00000298992:A510V	ENSP00000298992:A510V	A	-	2	0	0	ABTB2	34140830	34140830	0.467000	0.25831	0.001000	0.08648	0.013000	0.08279	3.582000	0.53921	1.128000	0.42052	0.655000	0.94253	GCG	0.255784		TCGA-2J-AABF-01A-31D-A40W-08	0.657	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	1		2	2	2	0		0	0	48		48	45	1	1.840000	-19.987490	1	0.310000	NM_145804			16	16		170	166	0		1	1		0	0	48	0		0.999935	1.949100e-01	0	2	0	7	0	16	170
MAP6	4135	broad.mit.edu	37	11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	613	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCCTTGACAGGTGCTGGGAC	0.537																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3	0.700000	0.390000	6.200000e-01	4.600000e-01	0.530000	0.547297	0.530000	0.540000																										0				19						c.(1837-1839)cCt>cTt		microtubule-associated protein 6							171.0	152.0	158.0					11																	75298708		2200	4293	6493	SO:0001583	missense	4135	0	0					g.chr11:75298708G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1838C>T	chr11.hg19:g.75298708G>A	ENSP00000307093:p.Pro613Leu	0					CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L	p.P613L	NM_033063.1	NP_149052.1	0	1	1	1.955032	Q96JE9	MAP6_HUMAN		4	2588	-	Ovarian(111;0.11)		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	1	1	hg19	c.1838C>T	CCDS31641.1	0	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505538	0.26949	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	4.42	1.37	0.22104	4.42	1.37	0.22104	.	.	.	.	.	T	0.40473	0.1118	L	0.58810	1.83	0.18873	N	0.999982	B	0.12013	0.005	B	0.12156	0.007	T	0.31308	-0.9948	9	0.35671	T	0.21	0.8809	6.9282	0.24426	0.0869:0.0:0.6059:0.3071	.	613	Q96JE9	MAP6_HUMAN	L	613;284;284	ENSP00000307093:P613L	ENSP00000307093:P613L	P	-	2	0	0	MAP6	74976356	74976356	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.147000	0.16202	0.195000	0.20347	0.435000	0.28638	CCT	0.277525		TCGA-2J-AABF-01A-31D-A40W-08	0.537	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	1	0	1		2	2	2	0		0	0	154		154	153	1	1.840000	-3.142702	1	0.310000	NM_033063			44	44		458	455	0		1	0		0	0	154	0		1.000000	8.225562e-01	0	0	0	35	0	44	458
CASP5	838	broad.mit.edu	37	11	104871109	104871109	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000260315.3	-	6	830	c.831G>A	c.(829-831)gcG>gcA	p.A277A	CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000393141.2_Silent_p.A290A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000531367.1_Silent_p.A135A			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	277					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTTTATGCGCAGTTCCGC	0.483																																						ENST00000260315.3	0.170000	0.020000	1.300000e-01	5.000000e-02	0.080000	0.092742	0.080000	0.080000																										0				35						c.(829-831)gcG>gcA		caspase 5, apoptosis-related cysteine peptidase							170.0	154.0	159.0					11																	104871109		2202	4299	6501	SO:0001819	synonymous_variant	838	1	121412	40				g.chr11:104871109C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.831G>A	chr11.hg19:g.104871109C>T		0					CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393141.2_Silent_p.A290A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000393139.2_3'UTR	p.A277A			0	1	1	1.955032	P51878	CASP5_HUMAN		6	830	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	0	1	hg19	c.831G>A	CCDS8328.2	0																																																																																								0.277525		TCGA-2J-AABF-01A-31D-A40W-08	0.483	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	0	0	1		2	2	2	0		0	0	128		128	126	1	1.840000	-2.172465	0	0.310000	NM_004347			5	5		389	385	0		1	0		0	0	128	0		0.936234	7.907256e-04	0	0	0	3	0	5	389
USP5	8078	broad.mit.edu	37	12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	492	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCTGCCTGTGCCCATGGATGC	0.557																																						ENST00000229268.8	1.000000	0.340000	5.700000e-01	4.000000e-01	0.470000	0.513466	0.470000	0.460000																										0				36						c.(1474-1476)Ccc>Tcc		ubiquitin specific peptidase 5 (isopeptidase T)							148.0	134.0	139.0					12																	6970246		2203	4300	6503	SO:0001583	missense	8078	2	121412	35				g.chr12:6970246C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1474C>T	chr12.hg19:g.6970246C>T	ENSP00000229268:p.Pro492Ser	1					USP5_ENST00000389231.5_Missense_Mutation_p.P492S|USP5_ENST00000541969.1_3'UTR	p.P492S	NM_001098536.1	NP_001092006.1	1	2	3	2.301137	P45974	UBP5_HUMAN		12	1526	+			D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	1	1	hg19	c.1474C>T	CCDS41743.1	0	.	.	.	.	.	.	.	.	.	.	C	30	5.055182	0.93793	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.76316	-1.01;-1.01	5.04	5.04	0.67666	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.85710	2.77	0.80722	D	1	D;D	0.60160	0.981;0.987	D;P	0.66084	0.941;0.779	D	0.90329	0.4350	10	0.66056	D	0.02	-5.5005	18.5776	0.91161	0.0:1.0:0.0:0.0	.	492;492	P45974;P45974-2	UBP5_HUMAN;.	S	492;492;135	ENSP00000229268:P492S;ENSP00000373883:P492S	ENSP00000229268:P492S	P	+	1	0	0	USP5	6840507	6840507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.610000	0.88304	0.561000	0.74099	CCC	0.394471		TCGA-2J-AABF-01A-31D-A40W-08	0.557	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	0	0	1		2	7	2	1		1	0	165		165	162	1	1.840000	-8.531366	1	0.310000				45	45		670	657	1		1	1		1	0	165	0		1.000000	9.747720e-01	0	25	0	190	0	45	670
PLEKHA5	54477	broad.mit.edu	37	12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000299275.6	+	11	1372	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000510738.2_3'UTR	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	456					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGCTACCCTGAAGGTTATAG	0.408																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000299275.6	1.000000	0.520000	9.900000e-01	6.400000e-01	0.790000	0.799385	0.790000	1.000000																										0				35						c.(1366-1368)Gaa>Aaa		pleckstrin homology domain containing, family A member 5							57.0	55.0	55.0					12																	19436284		2203	4300	6503	SO:0001583	missense	54477	0	0					g.chr12:19436284G>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1366G>A	chr12.hg19:g.19436284G>A	ENSP00000299275:p.Glu456Lys	1					PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K	p.E456K	NM_019012.5	NP_061885.2	1	2	3	2.301137	Q9HAU0	PKHA5_HUMAN		11	1372	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	1	1	hg19	c.1366G>A	CCDS8682.1	0	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259184	0.80246	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.16	3.25	0.37280	4.16	3.25	0.37280	.	0.050946	0.85682	D	0.000000	T	0.37019	0.0988	M	0.78801	2.425	0.46874	D	0.999231	D;D;D;D;D;D;D	0.76494	0.995;0.996;0.997;0.992;0.999;0.985;0.991	D;D;D;P;D;P;D	0.78314	0.92;0.94;0.939;0.872;0.991;0.831;0.919	T	0.33624	-0.9861	10	0.72032	D	0.01	-3.3078	13.6615	0.62370	0.0:0.0:0.8444:0.1556	.	456;348;348;462;462;456;456	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	K	456;456;456;463;456;462;456;214;456;348;348;348	ENSP00000325155:E456K;ENSP00000347560:E456K;ENSP00000352104:E456K;ENSP00000311239:E456K;ENSP00000404296:E462K;ENSP00000299275:E456K;ENSP00000440611:E214K;ENSP00000439673:E456K;ENSP00000400411:E348K;ENSP00000439837:E348K;ENSP00000440371:E348K	ENSP00000299275:E456K	E	+	1	0	0	PLEKHA5	19327551	19327551	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	8.625000	0.90965	1.075000	0.40932	0.655000	0.94253	GAA	0.394471		TCGA-2J-AABF-01A-31D-A40W-08	0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	1	0	1		2	2	2	0		0	0	45		45	43	1	1.840000	-20.000000	1	0.310000	NM_019012			25	25		214	209	1		1	1		0	0	45	0		1.000000	9.998247e-01	0	15	0	105	0	25	214
PDE3A	5139	broad.mit.edu	37	12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A	rs185449585		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	512					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGCAAAGTCGACCAGGTAAG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.001		0.0	False		,,,				2504	0.0					ENST00000359062.3	1.000000	0.330000	7.900000e-01	4.400000e-01	0.580000	0.620874	0.580000	0.550000																										0				58						c.(1534-1536)cGa>cAa		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)						81.0	71.0	74.0					12																	20774340		2203	4300	6503	SO:0001583	missense	5139	4	121376	38				g.chr12:20774340G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1535G>A	chr12.hg19:g.20774340G>A	ENSP00000351957:p.Arg512Gln	1					PDE3A_ENST00000544307.1_3'UTR	p.R512Q	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	1	2	3	2.301137	Q14432	PDE3A_HUMAN		5	1575	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	1	1	hg19	c.1535G>A	CCDS31754.1	0	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.7	4.765502	0.90020	.	.	ENSG00000172572	ENST00000359062	T	0.51574	0.7	5.37	4.46	0.54185	5.37	4.46	0.54185	.	1.750830	0.03388	N	0.201351	T	0.60117	0.2244	L	0.55481	1.735	0.41511	D	0.988349	D	0.71674	0.998	P	0.51229	0.663	T	0.41215	-0.9521	10	0.72032	D	0.01	.	13.5478	0.61715	0.0:0.0:0.844:0.156	.	512	Q14432	PDE3A_HUMAN	Q	512	ENSP00000351957:R512Q	ENSP00000351957:R512Q	R	+	2	0	0	PDE3A	20665607	20665607	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.227000	0.72282	1.222000	0.43521	0.591000	0.81541	CGA	0.394471		TCGA-2J-AABF-01A-31D-A40W-08	0.418	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	1		2	2	2	0		0	0	50		50	48	1	1.840000	-18.854500	1	0.310000				14	14		170	170	0		1	0		0	0	50	0		0.999792	3.126308e-01	0	0	0	14	0	14	170
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.510000	1	6.300000e-01	0.780000	0.796552	0.780000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.301137	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>A	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.394471		TCGA-2J-AABF-01A-31D-A40W-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	52		52	51	1	1.840000	-10.407220	1	0.310000	NM_033360			23	23		198	194	1		1	1	1	0	0	52	383		0.999999	9.481428e-01	1	8	40	37	383	23	198
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.L241L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2	0.530000	0.340000	4.800000e-01	3.800000e-01	0.420000	0.436025	0.420000	0.430000																										0				20						c.(787-789)ctC>ctT		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)						205.0	201.0	203.0					12																	53607867		2203	4300	6503	SO:0001819	synonymous_variant	5916	0	0					g.chr12:53607867G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.789C>T	chr12.hg19:g.53607867G>A		0		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543762.1_5'UTR	p.L263L	NM_000966.5	NP_000957.1	0	0	0	1.940925	P13631	RARG_HUMAN		7	1276	-			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	1	1	hg19	c.789C>T	CCDS8850.1	0																																																																																								0.269223		TCGA-2J-AABF-01A-31D-A40W-08	0.532	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	0	0	1		2	4	2	1		1	0	270		270	264	1	1.840000	-13.670260	1	0.310000	NM_000966			77	76		1008	992	1		1	1		1	0	270	0		1.000000	9.880883e-01	0	18	0	121	0	77	1008
HOXC12	3228	broad.mit.edu	37	12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	80					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCCTCCCTTCGGCCGCACGTG	0.721																																						ENST00000243103.3	1.000000	0.370000	1	5.400000e-01	0.750000	0.755933	0.750000	1.000000																										0				12						c.(238-240)Ggc>Agc		homeobox C12							16.0	13.0	14.0					12																	54348951		2185	4284	6469	SO:0001583	missense	3228	2	120772	28				g.chr12:54348951G>A	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.238G>A	chr12.hg19:g.54348951G>A	ENSP00000243103:p.Gly80Ser	0					AC012531.23_ENST00000603432.1_lincRNA	p.G80S	NM_173860.1	NP_776272.1	0	0	0	1.940925	P31275	HXC12_HUMAN		1	334	+			Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	0	1	hg19	c.238G>A	CCDS8866.1	0	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536334	0.27475	.	.	ENSG00000123407	ENST00000243103	D	0.92348	-3.02	2.85	2.85	0.33270	2.85	2.85	0.33270	.	0.142741	0.48286	D	0.000198	T	0.71350	0.3329	N	0.00642	-1.3	0.32432	N	0.547853	B	0.21688	0.059	B	0.10450	0.005	T	0.71196	-0.4664	10	0.20519	T	0.43	.	7.7023	0.28630	0.1267:0.0:0.8733:0.0	.	80	P31275	HXC12_HUMAN	S	80	ENSP00000243103:G80S	ENSP00000243103:G80S	G	+	1	0	0	HOXC12	52635218	52635218	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.133000	0.50531	1.903000	0.55091	0.455000	0.32223	GGC	0.269223		TCGA-2J-AABF-01A-31D-A40W-08	0.721	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	1	0	1		2	2	2	0		0	0	18		18	16	1	1.840000	-14.824040	1	0.310000	NM_173860			8	8		57	56	0		1			0	0	18	0		0.990316	0	0	0	0	0	0	8	57
CEP290	80184	broad.mit.edu	37	12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	543					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGACTTTCAATCTGCAAA	0.333																																						ENST00000552810.1	1.000000	0.620000	1	8.600000e-01	0.990000	0.949744	0.990000	1.000000																										0				73						c.(1627-1629)Gaa>Aaa		centrosomal protein 290kDa							67.0	59.0	62.0					12																	88512344		1799	4051	5850	SO:0001583	missense	80184	0	0					g.chr12:88512344C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1627G>A	chr12.hg19:g.88512344C>T	ENSP00000448012:p.Glu543Lys	0					CEP290_ENST00000309041.7_Missense_Mutation_p.E545K|CEP290_ENST00000397838.3_5'UTR	p.E543K	NM_025114.3	NP_079390.3	0	0	0	1.940925	O15078	CE290_HUMAN		17	1970	-			Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	1	1	hg19	c.1627G>A	CCDS55858.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.220537	0.95139	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66099	-0.17;-0.19	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68123	-0.5492	10	0.07175	T	0.84	.	19.4827	0.95016	0.0:1.0:0.0:0.0	.	543;543	Q05BJ6;O15078	.;CE290_HUMAN	K	543;545;543;445	ENSP00000448012:E543K;ENSP00000308021:E545K	ENSP00000308021:E545K	E	-	1	0	0	CEP290	87036475	87036475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.443000	0.66581	2.601000	0.87937	0.585000	0.79938	GAA	0.269223		TCGA-2J-AABF-01A-31D-A40W-08	0.333	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	1	0	1		2	2	2	0		0	0	18		18	17	1	1.840000	-9.540794	1	0.310000	NM_025114			10	10		41	41	1		1	0		0	0	18	0		0.997850	4.379520e-01	0	1	0	6	0	10	41
TCP11L2	255394	broad.mit.edu	37	12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000299045.3	+	2	321	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	49	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCAAATCCAGCTCTCCTGCTT	0.522																																						ENST00000299045.3	0.360000	0.050000	2.600000e-01	1.000000e-01	0.160000	0.187112	0.160000	0.150000																										0				15						c.(145-147)agC>agA		t-complex 11, testis-specific-like 2							58.0	57.0	57.0					12																	106705000		2203	4300	6503	SO:0001583	missense	255394	0	0					g.chr12:106705000C>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.147C>A	chr12.hg19:g.106705000C>A	ENSP00000299045:p.Ser49Arg	0					TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R	p.S49R	NM_152772.1	NP_689985.1	0	0	0	1.940925	Q8N4U5	T11L2_HUMAN		2	321	+			B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	0	1	hg19	c.147C>A	CCDS9104.1	0	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401042	0.25291	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.30714	2.19;2.85;2.19;2.19;1.93;1.52	5.91	5.01	0.66863	5.91	5.01	0.66863	.	0.357482	0.37178	N	0.002213	T	0.25494	0.0620	L	0.51422	1.61	0.45594	D	0.998536	B;P;P	0.36909	0.437;0.573;0.573	B;B;B	0.33521	0.117;0.165;0.165	T	0.02075	-1.1218	9	.	.	.	-1.542	10.1181	0.42603	0.0:0.8032:0.0:0.1968	.	49;49;49	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	R	49	ENSP00000448952:S49R;ENSP00000299045:S49R;ENSP00000449123:S49R;ENSP00000448629:S49R;ENSP00000447174:S49R;ENSP00000447457:S49R	.	S	+	3	2	2	TCP11L2	105229130	105229130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.943000	0.29030	2.793000	0.96121	0.655000	0.94253	AGC	0.269223		TCGA-2J-AABF-01A-31D-A40W-08	0.522	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	0	0	0		2	2	2	0		0	0	56		56	52	1	1.840000	-6.149728	1	0.310000	NM_152772			4	2		154	153	0		1	0		0	0	56	0		0.886830	1.046775e-01	0	0	0	17	0	4	154
TBC1D2B	23102	broad.mit.edu	37	15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000300584.3	-	9	2152	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	718	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTTGGGCAGAGTTCGCAG	0.547																																						ENST00000300584.3	0.810000	0.290000	6.700000e-01	3.900000e-01	0.520000	0.537553	0.520000	0.510000																										0				26						c.(2152-2154)cTg>cAg		TBC1 domain family, member 2B							149.0	112.0	124.0					15																	78305282		2196	4293	6489	SO:0001583	missense	23102	0	0					g.chr15:78305282A>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2153T>A	chr15.hg19:g.78305282A>T	ENSP00000300584:p.Leu718Gln	0					TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q	p.L718Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	0	1	1	1.934762	Q9UPU7	TBD2B_HUMAN		9	2152	-			A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	1	1	hg19	c.2153T>A	CCDS45314.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.590106|4.590106	0.86851|0.86851	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.12879	.|2.64;2.64	5.47|5.47	5.47|5.47	0.80525|0.80525	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Rab-GAP/TBC domain (4);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	T|T	0.62459|0.62459	-0.6850|-0.6850	5|10	.|0.87932	.|D	.|0	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|718;170;718	.|Q9UPU7-2;Q9UPU7-3;Q9UPU7	.|.;.;TBD2B_HUMAN	S|Q	600|718	.|ENSP00000387165:L718Q;ENSP00000300584:L718Q	.|ENSP00000300584:L718Q	C|L	-|-	1|2	0|0	0|0	TBC1D2B|TBC1D2B	76092337|76092337	76092337|76092337	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	9.109000|9.109000	0.94291|0.94291	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TGC|CTG	0.265606		TCGA-2J-AABF-01A-31D-A40W-08	0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	1		2	2	2	0		0	0	44		44	44	1	1.840000	-6.927146	1	0.310000	NM_015079			13	12		140	139	0		1	1		0	0	44	0		0.999574	9.960452e-01	0	3	0	101	0	13	140
FAH	2184	broad.mit.edu	37	15	80465429	80465429	+	Silent	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000407106.1	+	10	935	c.780T>A	c.(778-780)tcT>tcA	p.S260S	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000539156.1_Silent_p.S190S|FAH_ENST00000261755.5_Silent_p.S260S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	260					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTGTCTCTCCGTGGGTGG	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000407106.1	1.000000	0.890000	1	9.900000e-01	0.990000	0.992153	0.990000	1.000000																										0				19						c.(778-780)tcT>tcA		fumarylacetoacetate hydrolase (fumarylacetoacetase)							199.0	166.0	177.0					15																	80465429		2203	4300	6503	SO:0001819	synonymous_variant	2184	0	0		Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	g.chr15:80465429T>A	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.780T>A	chr15.hg19:g.80465429T>A		0		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000539156.1_Silent_p.S190S	p.S260S			0	1	1	1.934762	P16930	FAAA_HUMAN		10	935	+			B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	1	1	hg19	c.780T>A	CCDS10314.1	1																																																																																								0.265606		TCGA-2J-AABF-01A-31D-A40W-08	0.572	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2	0	0	1		2	2	2	0		0	0	98		98	98	1	1.840000	-20.000000	1	0.310000				64	64		277	271	1		1	1		0	0	98	0		1.000000	9.992279e-01	0	13	0	36	0	64	277
TARSL2	123283	broad.mit.edu	37	15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	256					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATGGGCGGACCGTAGCA	0.463																																						ENST00000335968.3	0.650000	0.210000	5.300000e-01	2.900000e-01	0.400000	0.420875	0.400000	0.390000																										0				29						c.(766-768)cCg>cTg		threonyl-tRNA synthetase-like 2		A	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	97.0	84.0	89.0		767	4.6	0.4	15	dbSNP_134	89	0,8600		0,0,4300	yes	missense	TARSL2	NM_152334.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	256/803	102252128	2,13004	2203	4300	6503	SO:0001583	missense	123283	6	121412	38				g.chr15:102252128G>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.767C>T	chr15.hg19:g.102252128G>A	ENSP00000338093:p.Pro256Leu	0						p.P256L	NM_152334.2	NP_689547.2	0	1	1	1.934762	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)	5	983	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	1	1	hg19	c.767C>T	CCDS10394.1	0	.	.	.	.	.	.	.	.	.	.	g	21.0	4.084891	0.76642	4.54E-4	0.0	ENSG00000185418	ENST00000335968;ENST00000539112	D;D	0.84146	-1.81;-1.81	5.49	4.58	0.56647	5.49	4.58	0.56647	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.108661	0.64402	N	0.000004	D	0.94637	0.8271	H	0.98446	4.235	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.95685	0.8735	10	0.72032	D	0.01	-4.9582	12.3389	0.55083	0.0818:0.0:0.9182:0.0	.	256	A2RTX5	SYTC2_HUMAN	L	256	ENSP00000338093:P256L;ENSP00000439899:P256L	ENSP00000338093:P256L	P	-	2	0	0	TARSL2	100069651	100069651	1.000000	0.71417	0.382000	0.26119	0.886000	0.51366	7.731000	0.84895	1.342000	0.45619	-0.264000	0.10439	CCG	0.265606		TCGA-2J-AABF-01A-31D-A40W-08	0.463	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	1		2	2	2	0		0	0	58		58	57	1	1.840000	-2.809209	1	0.310000	NM_152334			11	10		157	153	0		1	1		0	0	58	0		0.998235	4.336883e-01	0	2	0	19	0	11	157
ASGR2	433	broad.mit.edu	37	17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	214	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607																																						ENST00000380952.2	0.650000	0.270000	5.500000e-01	3.500000e-01	0.440000	0.454874	0.440000	0.440000																										0				18						c.(640-642)Gtc>Atc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						102.0	88.0	93.0					17																	7010342		2203	4300	6503	SO:0001583	missense	433	0	0					g.chr17:7010342C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.640G>A	chr17.hg19:g.7010342C>T	ENSP00000370339:p.Val214Ile	1					ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	0	1	1	1.790887	P07307	ASGR2_HUMAN		7	904	-			A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	1	1	hg19	c.640G>A	CCDS32544.1	0	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969611	0.74246	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	4.45	0.53987	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40064	N	0.001193	T	0.21962	0.0529	N	0.17594	0.5	0.29055	N	0.88428	D;D;P;P;P	0.63880	0.993;0.977;0.787;0.747;0.894	D;D;P;P;D	0.79108	0.992;0.958;0.799;0.735;0.93	T	0.05818	-1.0862	10	0.13108	T	0.6	.	12.9277	0.58270	0.0:1.0:0.0:0.0	.	190;214;209;195;214	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	I	214;190;214;195	ENSP00000347140:V214I;ENSP00000254850:V190I;ENSP00000370339:V214I;ENSP00000405844:V195I	ENSP00000254850:V190I	V	-	1	0	0	ASGR2	6951066	6951066	0.695000	0.27747	0.999000	0.59377	0.873000	0.50193	0.624000	0.24462	2.175000	0.68902	0.609000	0.83330	GTC	0.189380		TCGA-2J-AABF-01A-31D-A40W-08	0.607	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	1	0	1		2	2	2	0		0	0	73		73	71	1	1.840000	-7.478645	1	0.310000	NM_080914			18	18		205	200	0		1	0		0	0	73	0		0.999982	1.749994e-01	0	0	0	9	0	18	205
TP53	7157	broad.mit.edu	37	17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T	rs397516437|rs375874539		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000269305.4	-	7	915	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	TGCCGCCCATGCAGGAACTGT	0.582		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)	ENST00000269305.4	1.000000	0.710000	1	8.200000e-01	0.920000	0.914840	0.920000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		37	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(7)|Unknown(5)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Substitution - coding silent(2)|Complex - deletion inframe(1)	p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	biliary_tract(6)|breast(5)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|liver(2)|cervix(1)|urinary_tract(1)|ovary(1)	24185						c.(724-726)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						140.0	108.0	119.0					17																	7577555		2203	4300	6503	SO:0001587	stop_gained	7157	0	0		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;	g.chr17:7577555G>T	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.726C>A	chr17.hg19:g.7577555G>T	ENSP00000269305:p.Cys242*	1	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_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*	p.C242*	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	0	1	1	1.790887	P04637	P53_HUMAN		7	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	Nonsense_Mutation	SNP	ENST00000269305.4	0	1	hg19	c.726C>A	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701385	0.68501	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.62	3.65	0.41850	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.558	7.3895	0.26901	0.195:0.0:0.805:0.0	.	.	.	.	X	242;242;242;242;242;242;231;149;110;149	.	ENSP00000269305:C242X	C	-	3	2	2	TP53	7518280	7518280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	1.305000	0.44909	0.462000	0.41574	TGC	0.189380		TCGA-2J-AABF-01A-31D-A40W-08	0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	68		68	67	1	1.840000	-19.989310	1	0.310000	NM_000546			36	36		156	153	1		1	1	1	0	0	68	1028		1.000000	9.999966e-01	1	6	135	83	683	36	156
LRP3	4037	broad.mit.edu	37	19	33696978	33696978	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	434	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACACGCCTGCCGACCGCTGCA	0.667																																						ENST00000253193.7	1.000000	0.290000	1	4.900000e-01	0.810000	0.772494	0.810000	1.000000																										0				15						c.(1300-1302)gcC>gcT		low density lipoprotein receptor-related protein 3							19.0	19.0	19.0					19																	33696978		2200	4296	6496	SO:0001819	synonymous_variant	4037	1	121230	25				g.chr19:33696978C>T	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1302C>T	chr19.hg19:g.33696978C>T		1					CTD-2540B15.13_ENST00000609744.1_RNA	p.A434A	NM_002333.3	NP_002324.2	2	2	4	2.270761	O75074	LRP3_HUMAN		5	1504	+	Esophageal squamous(110;0.137)		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	0	1	hg19	c.1302C>T	CCDS12430.1	0																																																																																								0.377537		TCGA-2J-AABF-01A-31D-A40W-08	0.667	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	0	0	1		2	2	2	0		0	0	9		9	9	1	1.840000	-10.684920	1	0.310000				5	5		49	47	0		1	1		0	0	9	0		0.934407	9.887263e-01	0	5	0	87	0	5	49
SIGLEC8	27181	broad.mit.edu	37	19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A	rs200631849		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTCTAGCCGAAAGAAATAT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19937	0.0		0.0	False		,,,				2504	0.0					ENST00000321424.3	1.000000	0.240000	1	3.000000e-01	0.370000	0.509343	0.370000	0.340000																										0				50						c.(373-375)Cgg>Tgg		sialic acid binding Ig-like lectin 8		G	TRP/ARG	0,4406		0,0,2203	130.0	128.0	129.0		373	-2.7	0.0	19		129	1,8599		0,1,4299	no	missense	SIGLEC8	NM_014442.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/500	51961269	1,13005	2203	4300	6503	SO:0001583	missense	27181	3	121412	39				g.chr19:51961269G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.373C>T	chr19.hg19:g.51961269G>A	ENSP00000321077:p.Arg125Trp	1					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank	p.R125W	NM_014442.2	NP_055257.2	2	2	4	2.309679	Q9NYZ4	SIGL8_HUMAN		1	439	-		all_neural(266;0.0199)	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	1	1	hg19	c.373C>T	CCDS33086.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.84	2.358199	0.41801	0.0	1.16E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.66638	-0.22;-0.22;-0.22	2.56	-2.68	0.06041	2.56	-2.68	0.06041	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.069320	0.07486	N	0.904738	T	0.81574	0.4851	M	0.87038	2.855	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.87578	0.952;0.998;0.853	T	0.71889	-0.4456	10	0.72032	D	0.01	.	9.4331	0.38622	0.0:0.0:0.7045:0.2955	.	125;125;125	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	W	125	ENSP00000389142:R125W;ENSP00000321077:R125W;ENSP00000339448:R125W	ENSP00000321077:R125W	R	-	1	2	2	SIGLEC8	56653081	56653081	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.251000	0.01186	-0.676000	0.05238	0.398000	0.26397	CGG	0.387809		TCGA-2J-AABF-01A-31D-A40W-08	0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	1		15	2	2	1		1	1	152		152	146	1	1.840000	-4.415848	1	0.310000	NM_014442			30	30		594	589	0		1	0		1	0	152	0		0.992199	2.235339e-01	0	0	0	18	0	30	594
ZNF83	55769	broad.mit.edu	37	19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000594682.2_3'UTR			P51522	ZNF83_HUMAN	zinc finger protein 83	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTGAAATATGATGGAAGACC	0.418																																						ENST00000597597.1	1.000000	0.200000	1	2.600000e-01	0.340000	0.483310	0.340000	0.310000																										0				18						c.(814-816)Cat>Tat		zinc finger protein 83							84.0	77.0	80.0					19																	53117004		2193	4268	6461	SO:0001583	missense	55769	0	0					g.chr19:53117004G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.814C>T	chr19.hg19:g.53117004G>A	ENSP00000472619:p.His272Tyr	1					ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y	p.H272Y			2	2	4	2.309679	P51522	ZNF83_HUMAN		2	3067	-			A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	1	1	hg19	c.814C>T	CCDS12854.1	0	.	.	.	.	.	.	.	.	.	.	N	0.067	-1.211291	0.01555	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	1.64	-3.27	0.05048	1.64	-3.27	0.05048	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.16903	0.455	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.46470	-0.9189	9	0.16896	T	0.51	.	1.1943	0.01871	0.4524:0.1528:0.2408:0.154	.	272	P51522	ZNF83_HUMAN	Y	272	ENSP00000445993:H272Y;ENSP00000301096:H272Y;ENSP00000445470:H272Y;ENSP00000440713:H272Y;ENSP00000439681:H272Y	ENSP00000301096:H272Y	H	-	1	0	0	ZNF83	57808816	57808816	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.434000	0.01021	-1.221000	0.02591	0.411000	0.27672	CAT	0.387809		TCGA-2J-AABF-01A-31D-A40W-08	0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	1	0	1		2	2	2	0		0	0	130		130	125	1	1.840000	-19.541450	1	0.310000	NM_018300			20	20		446	441	0		1	1		0	0	130	0		0.999995	9.055210e-01	0	2	0	91	0	20	446
NLRP7	199713	broad.mit.edu	37	19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000590030.1	-	1	299	c.259G>A	c.(259-261)Gca>Aca	p.A87T	NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	87	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGCCTTTGCCATCTTACAC	0.423																																						ENST00000590030.1	1.000000	0.030000	1	6.000000e-02	0.110000	0.321680	0.110000	0.090000																										0				73						c.(259-261)Gca>Aca		NLR family, pyrin domain containing 7							142.0	143.0	143.0					19																	55452821		2203	4300	6503	SO:0001583	missense	199713	0	0					g.chr19:55452821C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.259G>A	chr19.hg19:g.55452821C>T	ENSP00000465520:p.Ala87Thr	1					NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T	p.A87T			2	2	4	2.319363	Q8WX94	NALP7_HUMAN		1	299	-			E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	0	1	hg19	c.259G>A	CCDS33109.1	0	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186220	0.38609	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.38	1.38	0.22167	1.38	1.38	0.22167	Pyrin (2);DEATH-like (2);	1.450530	0.05136	N	0.493515	T	0.64757	0.2627	M	0.70595	2.14	0.09310	N	1	D;D;D;P	0.67145	0.996;0.996;0.996;0.947	D;D;D;P	0.69479	0.964;0.951;0.951;0.695	T	0.44892	-0.9298	10	0.72032	D	0.01	.	6.1849	0.20491	0.0:1.0:0.0:0.0	.	115;87;87;87	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	87;87;87;115;87	ENSP00000329568:A87T;ENSP00000409137:A87T;ENSP00000339491:A87T;ENSP00000414273:A115T	ENSP00000329568:A87T	A	-	1	0	0	NLRP7	60144633	60144633	0.030000	0.19436	0.002000	0.10522	0.029000	0.11900	1.832000	0.39151	1.055000	0.40461	0.462000	0.41574	GCA	0.391159		TCGA-2J-AABF-01A-31D-A40W-08	0.423	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	0	1		2	2	2	0		0	0	92		92	90	1	1.840000	-2.450380	0	0.310000	NM_139176			5	5		389	370	0		1			0	0	92	0		0.929433	0	0	0	0	0	0	5	389
TIMM44	10469	broad.mit.edu	37	19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	220					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTTTCTCCTCCTTGAACTTA	0.587																																						ENST00000270538.3	0.980000	0.490000	8.600000e-01	5.900000e-01	0.710000	0.730587	0.710000	0.720000																										0				17						c.(658-660)Gag>Aag		translocase of inner mitochondrial membrane 44 homolog (yeast)							116.0	135.0	129.0					19																	7998774		2203	4300	6503	SO:0001583	missense	10469	0	0					g.chr19:7998774C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.658G>A	chr19.hg19:g.7998774C>T	ENSP00000270538:p.Glu220Lys	1					TIMM44_ENST00000598968.1_5'Flank	p.E220K	NM_006351.3	NP_006342.2	0	1	1	1.874815	O43615	TIM44_HUMAN		6	926	-			A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	1	1	hg19	c.658G>A	CCDS12192.1	0	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126410	0.37533	.	.	ENSG00000104980	ENST00000270538	T	0.77098	-1.07	5.22	2.99	0.34606	5.22	2.99	0.34606	.	0.198544	0.53938	D	0.000059	T	0.62684	0.2448	L	0.33485	1.01	0.45979	D	0.998796	B	0.16396	0.017	B	0.13407	0.009	T	0.53365	-0.8449	10	0.15952	T	0.53	-30.6154	8.8822	0.35380	0.0:0.7654:0.1496:0.085	.	220	O43615	TIM44_HUMAN	K	220	ENSP00000270538:E220K	ENSP00000270538:E220K	E	-	1	0	0	TIMM44	7904774	7904774	0.545000	0.26449	0.962000	0.40283	0.719000	0.41307	1.125000	0.31332	1.206000	0.43276	0.561000	0.74099	GAG	0.253287		TCGA-2J-AABF-01A-31D-A40W-08	0.587	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3	1	0	1		2	2	2	0		0	0	77		77	75	1	1.840000	-3.143211	1	0.310000				27	26		196	191	1		1	1		0	0	77	0		1.000000	9.994582e-01	0	29	0	59	0	27	196
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418																																						ENST00000330619.8	1.000000	0.210000	1	2.800000e-01	0.380000	0.513393	0.380000	0.340000																										1	Substitution - Missense(1)	p.R417I(1)	large_intestine(1)	41						c.(1249-1251)aGa>aTa		zinc finger protein 470							82.0	84.0	83.0					19																	57089047		2203	4300	6503	SO:0001583	missense	388566	0	0					g.chr19:57089047G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1250G>T	chr19.hg19:g.57089047G>T	ENSP00000333223:p.Arg417Ile	1					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	p.R417I	NM_001001668.3	NP_001001668.3	2	2	4	2.319363	Q6ECI4	ZN470_HUMAN		6	1936	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	1	1	hg19	c.1250G>T	CCDS33122.1	0	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011176	0.35511	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.02446	4.29;4.29	4.26	3.18	0.36537	4.26	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.60012	1.86	0.36453	D	0.866185	P	0.39717	0.684	B	0.35510	0.204	T	0.45891	-0.9230	9	0.54805	T	0.06	.	6.2006	0.20573	0.0973:0.0:0.7151:0.1876	.	417	Q6ECI4	ZN470_HUMAN	I	417	ENSP00000375590:R417I;ENSP00000333223:R417I	ENSP00000333223:R417I	R	+	2	0	0	ZNF470	61780859	61780859	0.612000	0.27000	0.991000	0.47740	0.222000	0.24845	3.579000	0.53900	0.965000	0.38133	0.650000	0.86243	AGA	0.391159		TCGA-2J-AABF-01A-31D-A40W-08	0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	1		2	2	2	0		0	0	76		76	75	1	1.840000	-17.254740	1	0.310000	NM_001001668			16	16		324	322	0		1	0		0	0	76	0		0.999935	7.537532e-03	0	0	0	3	0	16	324
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512																																						ENST00000368171.3	1.000000	0.440000	1	5.200000e-01	0.620000	0.688577	0.620000	0.590000																										1	Unknown(1)	p.?(1)	prostate(1)	30						c.e6+1		CD1d molecule							340.0	309.0	320.0					1																	158153826		2203	4300	6503	SO:0001630	splice_region_variant	912	2	121412	35				g.chr1:158153826G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1G>A	chr1.hg19:g.158153826G>A		1							NM_001766.3	NP_001757.1	1	2	3	2.291073	P15813	CD1D_HUMAN		6	1485	+	all_hematologic(112;0.0378)		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	1	1	hg19		CCDS1173.1	0	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CD1D	156420450	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.	0.374915		TCGA-2J-AABF-01A-31D-A40W-08	0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	1	0	1		2	2	2	0		0	0	137		137	136	1	1.840000	-11.776860	1	0.310000	NM_001766	Intron		43	42		472	463	0		1			0	0	137	0		1.000000	0	0	0	0	0	0	43	472
PYHIN1	149628	broad.mit.edu	37	1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	378	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCTGCTTTCGACTGAGAAAG	0.363																																						ENST00000368140.1	1.000000	0.100000	1	1.600000e-01	0.250000	0.398903	0.250000	0.210000																										0				60						c.(1132-1134)cGa>cAa		pyrin and HIN domain family, member 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	82.0	83.0	82.0		1133,1106,1133,1106	0.6	0.0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense,missense,missense	PYHIN1	NM_152501.4,NM_198928.4,NM_198929.4,NM_198930.3	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	378/493,369/484,378/462,369/453	158913710	3,13003	2203	4300	6503	SO:0001583	missense	149628	5	121412	38				g.chr1:158913710G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1133G>A	chr1.hg19:g.158913710G>A	ENSP00000357122:p.Arg378Gln	1					PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	p.R378Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	1	2	3	2.291073	Q6K0P9	IFIX_HUMAN		6	1378	+	all_hematologic(112;0.0378)		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	0	1	hg19	c.1133G>A	CCDS1178.1	0	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185136	0.01620	6.81E-4	0.0	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	3.13	0.627	0.17675	3.13	0.627	0.17675	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01523	0.0049	N	0.21142	0.635	0.09310	N	1	P;P;P;P	0.44429	0.703;0.688;0.703;0.835	B;B;B;B	0.28638	0.023;0.055;0.023;0.092	T	0.45011	-0.9290	9	0.18710	T	0.47	.	5.1931	0.15220	0.7652:0.0:0.2348:0.0	.	369;378;369;378	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	378;369;378;369	ENSP00000357122:R378Q;ENSP00000357120:R369Q;ENSP00000376083:R378Q;ENSP00000376082:R369Q	ENSP00000357120:R369Q	R	+	2	0	0	PYHIN1	157180334	157180334	0.001000	0.12720	0.006000	0.13384	0.046000	0.14306	1.336000	0.33850	-0.002000	0.14469	-0.150000	0.13652	CGA	0.374915		TCGA-2J-AABF-01A-31D-A40W-08	0.363	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	0	1		2	2	2	0		0	0	60		60	60	1	1.840000	-3.346097	1	0.310000	NM_152501			8	8		260	257	0		1	0		0	0	60	0		0.989178	1.022081e-01	0	0	0	16	0	8	260
UBR4	23352	broad.mit.edu	37	1	19505631	19505631	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375254.3	-	18	2295	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	756					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCGTGAAAGCACAGAGAGGC	0.507																																						ENST00000375254.3	1.000000	0.730000	1	8.200000e-01	0.930000	0.923022	0.930000	1.000000																										0				171						c.(2266-2268)gtG>gtA		ubiquitin protein ligase E3 component n-recognin 4							136.0	127.0	130.0					1																	19505631		2203	4300	6503	SO:0001819	synonymous_variant	23352	0	0					g.chr1:19505631C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2268G>A	chr1.hg19:g.19505631C>T		0					UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V	p.V756V	NM_020765.2	NP_065816.2	1	2	3	2.136323	Q5T4S7	UBR4_HUMAN		18	2295	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	1	1	hg19	c.2268G>A	CCDS189.1	1																																																																																								0.325678		TCGA-2J-AABF-01A-31D-A40W-08	0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1		2	2	2	0		0	0	132		132	130	1	1.840000	-20.000000	1	0.310000	NM_020765			66	66		406	405	1		1	1		0	0	132	0		1.000000	9.578294e-01	0	4	0	30	0	66	406
HSPG2	3339	broad.mit.edu	37	1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	160	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCTCCTGAATCTGAGCCCCAT	0.622																																						ENST00000374695.3			0	0																														0				127						c.(478-480)caG>caC		heparan sulfate proteoglycan 2	Palifermin(DB00039)						175.0	153.0	161.0					1																	22216568		2203	4300	6503	SO:0001583	missense	3339	0	0					g.chr1:22216568C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.480G>C	chr1.hg19:g.22216568C>G	ENSP00000363827:p.Gln160His							p.Q160H	NM_005529.5	NP_005520.4					P98160	PGBM_HUMAN		6	559	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	1	1	hg19	c.480G>C	CCDS30625.1		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.51|15.51	2.856016|2.856016	0.51376|0.51376	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	T;T|T	0.76186|0.54675	-1.0;0.77|0.56	5.44|5.44	4.53|4.53	0.55603|0.55603	5.44|5.44	4.53|4.53	0.55603|0.55603	SEA (2);|.	0.000000|.	0.37857|.	N|.	0.001913|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.29908|0.29908	0.895|0.895	0.51233|0.51233	D|D	0.999914|0.999914	D|D	0.67145|0.89917	0.996|1.0	D|D	0.64042|0.71656	0.921|0.974	T|T	0.62576|0.62576	-0.6825|-0.6825	10|9	0.87932|0.72032	D|D	0|0.01	.|.	11.8428|11.8428	0.52364|0.52364	0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839	.|.	160|83	P98160|Q5SZI5	PGBM_HUMAN|.	H|T	160;126|83	ENSP00000363827:Q160H;ENSP00000395884:Q126H|ENSP00000405412:R83T	ENSP00000363827:Q160H|ENSP00000405412:R83T	Q|R	-|-	3|2	2|0	2|0	HSPG2|HSPG2	22089155|22089155	22089155|22089155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.067000|0.067000	0.16453|0.16453	5.185000|5.185000	0.65076|0.65076	1.533000|1.533000	0.49186|0.49186	0.650000|0.650000	0.86243|0.86243	CAG|AGA			TCGA-2J-AABF-01A-31D-A40W-08	0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	0		2	2	2	0		0	0	118		118	116	1	1.840000	-13.981740	1	0.310000	NM_005529			44	40		429	422	0		1	0		0	0	118	0		1.000000	9.999975e-01	0	0	0	187	0	44	429
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617																																						ENST00000374695.3			0	0																														0				127						c.(439-441)Gag>Tag		heparan sulfate proteoglycan 2	Palifermin(DB00039)						139.0	124.0	129.0					1																	22216609		2203	4300	6503	SO:0001587	stop_gained	3339	0	0					g.chr1:22216609C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.439G>T	chr1.hg19:g.22216609C>A	ENSP00000363827:p.Glu147*							p.E147*	NM_005529.5	NP_005520.4					P98160	PGBM_HUMAN		6	518	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	0	1	hg19	c.439G>T	CCDS30625.1		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666493|4.666493	0.88251|0.88251	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	.|T	.|0.55413	.|0.52	5.44|5.44	5.44|5.44	0.79542|0.79542	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40385|.	N|.	0.001116|.	.|T	.|0.73187	.|0.3555	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	.|T	.|0.75659	.|-0.3241	.|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8112|16.8112	0.85720|0.85720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69	.|Q5SZI5	.|.	X|C	147;113|69	.|ENSP00000405412:W69C	ENSP00000363827:E147X|ENSP00000405412:W69C	E|W	-|-	1|3	0|0	0|0	HSPG2|HSPG2	22089196|22089196	22089196|22089196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.844000|6.844000	0.75390|0.75390	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG			TCGA-2J-AABF-01A-31D-A40W-08	0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	0		2	2	2	0		0	0	113		113	110	1	1.840000	-14.858780	1	0.310000	NM_005529			43	39		374	368	0		1	0		0	0	113	0		1.000000	9.999994e-01	0	0	0	188	0	43	374
DDR2	4921	broad.mit.edu	37	1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	277					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GAATTTGACCGCATCAGGAAT	0.498																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3	1.000000	0.040000	1	8.000000e-02	0.140000	0.322922	0.140000	0.110000																										0				7						c.(829-831)cGc>cAc		discoidin domain receptor tyrosine kinase 2	Regorafenib(DB08896)						103.0	96.0	98.0					1																	162729744		2203	4300	6503	SO:0001583	missense	4921	1	121412	29				g.chr1:162729744G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.830G>A	chr1.hg19:g.162729744G>A	ENSP00000356899:p.Arg277His	1					DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	p.R277H	NM_001014796.1	NP_001014796.1	1	2	3	2.291073	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)	9	1268	+	all_hematologic(112;0.115)		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	0	1	hg19	c.830G>A	CCDS1241.1	0	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970789	0.74246	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.56776	0.44;0.44	5.6	4.69	0.59074	5.6	4.69	0.59074	.	0.048244	0.85682	D	0.000000	T	0.27832	0.0685	L	0.46670	1.46	0.39846	D	0.973175	B	0.34241	0.444	B	0.24701	0.055	T	0.24905	-1.0147	9	0.51188	T	0.08	.	13.4248	0.61020	0.0763:0.0:0.9237:0.0	.	277	Q16832	DDR2_HUMAN	H	277	ENSP00000356899:R277H;ENSP00000356898:R277H	ENSP00000356898:R277H	R	+	2	0	0	DDR2	160996368	160996368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	1.368000	0.46115	0.549000	0.68633	CGC	0.374915		TCGA-2J-AABF-01A-31D-A40W-08	0.498	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	0	0	1		2	2	2	0		0	0	61		61	60	1	1.840000	-2.607391	1	0.310000	NM_006182			5	5		298	296	0		1	0		0	0	61	0		0.936957	6.312859e-02	0	0	0	20	0	5	298
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	647					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602																																						ENST00000366835.3	1.000000	0.020000	1	5.000000e-02	0.090000	0.290918	0.090000	0.080000																										0				24						c.(1939-1941)cgG>cgA		transmembrane protein 63A							132.0	118.0	122.0					1																	226037743		2203	4300	6503	SO:0001819	synonymous_variant	9725	0	0					g.chr1:226037743C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1941G>A	chr1.hg19:g.226037743C>T		1						p.R647R	NM_014698.2	NP_055513.2	1	2	3	2.294266	O94886	CSCL1_HUMAN		21	2211	-	Breast(184;0.197)		Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	0	1	hg19	c.1941G>A	CCDS31042.1	0																																																																																								0.372271		TCGA-2J-AABF-01A-31D-A40W-08	0.602	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	0	0	1		2	2	2	0		0	0	97		97	96	1	1.840000	-1.918755	0	0.310000	NM_014698			5	5		476	471	0		1	0		0	0	97	0		0.936118	8.750074e-01	0	1	0	359	0	5	476
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498																																						ENST00000366574.2	1.000000	0.750000	1	8.600000e-01	0.990000	0.951265	0.990000	1.000000																										0				586						c.(592-594)aaC>aaT		ryanodine receptor 2 (cardiac)							113.0	114.0	114.0					1																	237550598		2003	4178	6181	SO:0001819	synonymous_variant	6262	39	120902	47				g.chr1:237550598C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.594C>T	chr1.hg19:g.237550598C>T		1					RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	p.N198N	NM_001035.2	NP_001026.2	1	2	3	2.294266	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	9	911	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	1	1	hg19	c.594C>T	CCDS55691.1	1																																																																																								0.372271		TCGA-2J-AABF-01A-31D-A40W-08	0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1		2	2	2	0		0	0	88		88	87	1	1.840000	-20.000000	1	0.310000	NM_001035			55	54		349	342	1		1			0	0	88	0		1.000000	0	0	0	0	0	0	55	349
GRIK3	2899	broad.mit.edu	37	1	37346362	37346362	+	Silent	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	141					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTGTCCAGCGGGTGGTGCT	0.612																																						ENST00000373091.3	1.000000	0.580000	1	7.000000e-01	0.840000	0.846405	0.840000	1.000000																										0				89						c.(421-423)ccG>ccT		glutamate receptor, ionotropic, kainate 3							288.0	246.0	260.0					1																	37346362		2203	4300	6503	SO:0001819	synonymous_variant	2899	0	0					g.chr1:37346362C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.423G>T	chr1.hg19:g.37346362C>A		0					GRIK3_ENST00000373093.4_Silent_p.P141P	p.P141P	NM_000831.3	NP_000822.2	1	2	3	2.129237	Q13003	GRIK3_HUMAN		3	439	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	1	1	hg19	c.423G>T	CCDS416.1	0																																																																																								0.324655		TCGA-2J-AABF-01A-31D-A40W-08	0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	1		2	2	2	0		0	0	55		55	54	1	1.840000	-3.222486	1	0.310000	NM_000831			30	30		210	206	1		1	0		0	0	55	0		1.000000	1.686903e-02	0	0	0	2	0	30	210
PGBD2	267002	broad.mit.edu	37	1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000329291.5	+	3	1709	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	521										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGATACATTGCCTGTGTGTAT	0.532																																						ENST00000329291.5			0	0																														0				14						c.(1561-1563)gCc>gTc		piggyBac transposable element derived 2							112.0	97.0	102.0					1																	249212345		2203	4300	6503	SO:0001583	missense	267002	0	0					g.chr1:249212345C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1562C>T	chr1.hg19:g.249212345C>T	ENSP00000331643:p.Ala521Val						PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V	p.A521V	NM_170725.2	NP_733843.1					Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)	3	1709	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	0	1	hg19	c.1562C>T	CCDS31128.1		.	.	.	.	.	.	.	.	.	.	.	10.26	1.299979	0.23650	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14893	2.47;2.67;2.67	3.05	3.05	0.35203	3.05	3.05	0.35203	.	0.122356	0.33650	N	0.004692	T	0.15392	0.0371	N	0.04018	-0.295	0.30874	N	0.73219	P;D	0.76494	0.778;0.999	B;D	0.80764	0.262;0.994	T	0.06092	-1.0846	10	0.14656	T	0.56	.	9.8324	0.40950	0.0:1.0:0.0:0.0	.	518;521	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	270;521;518	ENSP00000355424:A270V;ENSP00000331643:A521V;ENSP00000439950:A518V	ENSP00000331643:A521V	A	+	2	0	0	PGBD2	247178968	247178968	0.994000	0.37717	0.937000	0.37676	0.055000	0.15305	1.573000	0.36472	1.999000	0.58509	0.467000	0.42956	GCC			TCGA-2J-AABF-01A-31D-A40W-08	0.532	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	0	0	1		2	2	2	0		0	0	66		66	64	1	1.840000	-6.091882	1	0.310000				5	5		263	261	0		1	0		0	0	66	0		0.936888	3.080870e-01	0	1	0	50	0	5	263
NFS1	9054	broad.mit.edu	37	20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T	rs188144557		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	432					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	TTCTCGAAGACGCTTCACATG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19113	0.001		0.0	False		,,,				2504	0.0					ENST00000374092.4	1.000000	0.290000	6.700000e-01	3.900000e-01	0.500000	0.543230	0.500000	0.490000																										0				18						c.(1294-1296)cGt>cAt		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)						116.0	96.0	103.0					20																	34260692		2203	4300	6503	SO:0001583	missense	9054	8	121412	38				g.chr20:34260692C>T	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1295G>A	chr20.hg19:g.34260692C>T	ENSP00000363205:p.Arg432His	0					NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H	p.R432H	NM_021100.4	NP_066923.3	1	2	3	2.090793	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)	12	1365	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	1	1	hg19	c.1295G>A	CCDS13262.1	0	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.6	4.850104	0.91277	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	T;T;T;T;T	0.48522	1.78;2.8;2.8;0.81;1.78	5.26	4.32	0.51571	5.26	4.32	0.51571	Pyridoxal phosphate-dependent transferase, major domain (1);	0.050804	0.85682	D	0.000000	T	0.67850	0.2937	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.66497	0.944;0.651	T	0.73285	-0.4031	10	0.62326	D	0.03	-6.6659	14.1886	0.65623	0.0:0.9281:0.0:0.0719	.	381;432	F5GYK5;Q9Y697	.;NFS1_HUMAN	H	432;372;372;230;381	ENSP00000363205:R432H;ENSP00000363198:R372H;ENSP00000380570:R372H;ENSP00000438594:R230H;ENSP00000440897:R381H	ENSP00000363198:R372H	R	-	2	0	0	NFS1	33724106	33724106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.285000	0.78660	1.450000	0.47717	0.563000	0.77884	CGT	0.318451		TCGA-2J-AABF-01A-31D-A40W-08	0.458	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	0	0	1		2	2	2	0		0	0	74		74	73	1	1.840000	-19.570460	1	0.310000	NM_021100			15	15		185	182	0		1	1		0	0	74	0		0.999878	9.782217e-01	0	9	0	72	0	15	185
CDC25B	994	broad.mit.edu	37	20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	506	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGAGACCGTGCTGTCAAC	0.592																																						ENST00000245960.5	1.000000	0.980000	1	9.900000e-01	0.990000	0.998895	0.990000	1.000000																										0				18						c.(1516-1518)cGt>cAt		cell division cycle 25B							173.0	151.0	159.0					20																	3785242		2203	4300	6503	SO:0001583	missense	994	0	0					g.chr20:3785242G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1517G>A	chr20.hg19:g.3785242G>A	ENSP00000245960:p.Arg506His	1					CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000467519.1_3'UTR	p.R506H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	2	3	5	2.260024	P30305	MPIP2_HUMAN		15	2214	+			D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	1	1	hg19	c.1517G>A	CCDS13067.1	1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895500	0.72639	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.15	4.19	0.49359	5.15	4.19	0.49359	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	H	0.97365	3.99	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999	T	0.76323	-0.3001	10	0.87932	D	0	-33.0368	12.1596	0.54098	0.0851:0.0:0.9149:0.0	.	415;428;442;465;492;506	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	442;415;506;492;465	ENSP00000339125:R442H;ENSP00000368918:R415H;ENSP00000245960:R506H;ENSP00000405972:R492H;ENSP00000339170:R465H	ENSP00000245960:R506H	R	+	2	0	0	CDC25B	3733242	3733242	1.000000	0.71417	0.201000	0.23476	0.563000	0.35712	9.313000	0.96297	1.295000	0.44724	0.563000	0.77884	CGT	0.374036		TCGA-2J-AABF-01A-31D-A40W-08	0.592	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	1	0	1		2	2	2	0		0	0	128		128	128	1	1.840000	-20.000000	1	0.310000	NM_021874			112	110		567	552	1		1	1		0	0	128	0		1.000000	1	0	83	0	225	0	112	567
KIAA1755	85449	broad.mit.edu	37	20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	554										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCTCCAGGGTGGGGCCTCTT	0.617																																						ENST00000279024.4	1.000000	0.200000	4.800000e-01	2.700000e-01	0.360000	0.408441	0.360000	0.350000																										0				54						c.(1660-1662)Acc>Gcc		KIAA1755							41.0	45.0	43.0					20																	36868017		2203	4300	6503	SO:0001583	missense	85449	0	0					g.chr20:36868017T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1660A>G	chr20.hg19:g.36868017T>C	ENSP00000279024:p.Thr554Ala	0						p.T554A	NM_001029864.1	NP_001025035.1	1	2	3	2.090793	Q5JYT7	K1755_HUMAN		4	1931	-		Myeloproliferative disorder(115;0.00874)	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	1	1	hg19	c.1660A>G	CCDS33467.1	0	.	.	.	.	.	.	.	.	.	.	T	0.464	-0.887640	0.02511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05025	3.51	4.43	-5.28	0.02755	4.43	-5.28	0.02755	.	1.521150	0.03937	N	0.286316	T	0.02688	0.0081	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44174	-0.9345	10	0.10111	T	0.7	.	6.8638	0.24082	0.0:0.3583:0.4205:0.2212	.	554	Q5JYT7	K1755_HUMAN	A	554;101	ENSP00000279024:T554A	ENSP00000279024:T554A	T	-	1	0	0	KIAA1755	36301431	36301431	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-2.726000	0.00808	-0.948000	0.03668	0.374000	0.22700	ACC	0.318451		TCGA-2J-AABF-01A-31D-A40W-08	0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	1	0	1		2	2	2	0		0	0	71		71	71	1	1.840000	-5.252286	1	0.310000	NM_001029864			15	15		265	260	0		1	0		0	0	71	0		0.999863	1.870539e-01	0	1	0	13	0	15	265
NTSR1	4923	broad.mit.edu	37	20	61341006	61341006	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	149					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCCTGCGCGACGCCTGCACCT	0.662																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3	1.000000	0.250000	5.500000e-01	3.200000e-01	0.420000	0.460417	0.420000	0.410000																										0				27						c.(445-447)gaC>gaT		neurotensin receptor 1 (high affinity)							53.0	51.0	52.0					20																	61341006		2202	4299	6501	SO:0001819	synonymous_variant	4923	0	0					g.chr20:61341006C>T		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.447C>T	chr20.hg19:g.61341006C>T		0						p.D149D	NM_002531.2	NP_002522.2	1	2	3	2.090793	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)	1	818	+	Breast(26;3.65e-08)		Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	1	1	hg19	c.447C>T	CCDS13502.1	0																																																																																								0.318451		TCGA-2J-AABF-01A-31D-A40W-08	0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1	1	0	1		2	2	2	0		0	0	67		67	60	1	1.840000	-19.974640	1	0.310000				18	18		271	261	0		1			0	0	67	0		0.999978	0	0	0	0	0	0	18	271
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4	1.000000	0.300000	5.600000e-01	3.700000e-01	0.450000	0.490211	0.450000	0.440000																										0				99						c.(6142-6144)tcC>tcT		death inducer-obliterator 1							36.0	44.0	41.0					20																	61511164		2010	3928	5938	SO:0001819	synonymous_variant	11083	4	118276	38				g.chr20:61511164G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6144C>T	chr20.hg19:g.61511164G>A		0					DIDO1_ENST00000395343.1_Silent_p.S2048S	p.S2048S	NM_033081.2	NP_149072.2	1	2	3	2.090793	Q9BTC0	DIDO1_HUMAN		16	6469	-	Breast(26;5.68e-08)		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	1	1	hg19	c.6144C>T	CCDS33506.1	0																																																																																								0.318451		TCGA-2J-AABF-01A-31D-A40W-08	0.721	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	1		2	2	2	0		0	0	142		142	138	1	1.840000	-7.472040	1	0.310000	NM_080796			28	27		384	354	0		1	1		0	0	142	0		1.000000	6.214326e-01	0	3	0	27	0	28	384
RFPL1	5988	broad.mit.edu	37	22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A	rs577925684		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GGAGGTGGACGTGGGAACAAG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					ENST00000354373.2	0.610000	0.310000	5.400000e-01	3.800000e-01	0.450000	0.464573	0.450000	0.450000																										0				16						c.(556-558)Gtg>Atg		ret finger protein-like 1							88.0	87.0	88.0					22																	29837713		2203	4296	6499	SO:0001583	missense	5988	1	121410	37				g.chr22:29837713G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.556G>A	chr22.hg19:g.29837713G>A	ENSP00000346342:p.Val186Met	1					RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	p.V186M	NM_021026.2	NP_066306.2	0	1	1	1.797465	O75677	RFPL1_HUMAN		2	765	+			Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	1	1	hg19	c.556G>A	CCDS13857.2	0	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436705	0.43224	.	.	ENSG00000128250	ENST00000354373	T	0.74526	-0.85	0.911	-0.286	0.12862	0.911	-0.286	0.12862	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80737	0.4680	M	0.72894	2.215	0.23943	N	0.9964	D	0.76494	0.999	D	0.68353	0.957	T	0.67317	-0.5701	9	0.66056	D	0.02	.	5.1838	0.15174	0.2409:0.0:0.7591:0.0	.	186	O75677	RFPL1_HUMAN	M	186	ENSP00000346342:V186M	ENSP00000346342:V186M	V	+	1	0	0	RFPL1	28167713	28167713	1.000000	0.71417	0.005000	0.12908	0.397000	0.30659	2.655000	0.46707	-0.047000	0.13423	0.184000	0.17185	GTG	0.193784		TCGA-2J-AABF-01A-31D-A40W-08	0.562	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	1	0	1		2	2	2	0		0	0	99		99	102	1	1.840000	-9.805426	1	0.310000	NM_021026			32	26		354	306	0		1	0		0	0	99	0		1.000000	2.096716e-02	0	0	0	3	0	32	354
CACNA1I	8911	broad.mit.edu	37	22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000402142.3	+	21	3823	c.3823C>T	c.(3823-3825)Cgg>Tgg	p.R1275W	CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1275					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGAGTCTTGCGGCTCCTGCG	0.637																																						ENST00000402142.3	0.300000	0.050000	2.300000e-01	9.000000e-02	0.150000	0.164602	0.150000	0.140000																										0				60						c.(3823-3825)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)						55.0	61.0	59.0					22																	40060900		2039	4170	6209	SO:0001583	missense	8911	0	0					g.chr22:40060900C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3823C>T	chr22.hg19:g.40060900C>T	ENSP00000385019:p.Arg1275Trp	1					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W	p.R1275W	NM_021096.3	NP_066919.2	0	1	1	1.797465	Q9P0X4	CAC1I_HUMAN		21	3823	+	Melanoma(58;0.0749)		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	0	1	hg19	c.3823C>T	CCDS46710.1	0	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198582	0.58126	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.3	3.27	0.37495	4.3	3.27	0.37495	Ion transport (1);	0.062424	0.64402	D	0.000005	D	0.99548	0.9838	H	0.99732	4.735	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97772	1.0227	10	0.87932	D	0	.	13.5507	0.61730	0.1567:0.8433:0.0:0.0	.	1240;1275;1240;1275	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	1275;1240;1275;1240;1281;1240	ENSP00000385019:R1275W;ENSP00000384093:R1240W;ENSP00000383887:R1275W;ENSP00000385680:R1240W;ENSP00000337829:R1281W;ENSP00000383028:R1240W	ENSP00000337829:R1281W	R	+	1	2	2	CACNA1I	38390846	38390846	0.828000	0.29307	1.000000	0.80357	0.393000	0.30537	0.692000	0.25482	0.791000	0.33826	0.462000	0.41574	CGG	0.193784		TCGA-2J-AABF-01A-31D-A40W-08	0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	1		2	2	2	0		0	0	70		70	69	1	1.840000	-2.691682	1	0.310000	NM_001003406			5	5		190	181	0		1	0		0	0	70	0		0.930286	0	0	0	0	1	0	5	190
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398																																						ENST00000253255.5	0.250000	0.030000	1.800000e-01	6.000000e-02	0.110000	0.130680	0.110000	0.110000																										0				73						c.(4804-4806)taC>taT		polycystin (PKD) family receptor for egg jelly							97.0	91.0	93.0					22																	46654414		2203	4300	6503	SO:0001819	synonymous_variant	10343	0	0					g.chr22:46654414G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4806C>T	chr22.hg19:g.46654414G>A		1						p.Y1602Y	NM_006071.1	NP_006062.1	0	1	1	1.797465	Q9NTG1	PKDRE_HUMAN		1	4805	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	0	1	hg19	c.4806C>T	CCDS14073.1	0																																																																																								0.193784		TCGA-2J-AABF-01A-31D-A40W-08	0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	0	0	1		2	2	2	0		0	0	67		67	66	1	1.840000	-2.890020	1	0.310000	NM_006071			4	4		201	196	0		1			0	0	67	0		0.885317	0	0	0	0	0	0	4	201
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T	rs372225161		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572																																						ENST00000345913.4	1.000000	0.450000	9.600000e-01	5.900000e-01	0.760000	0.770252	0.760000	1.000000																										0				95						c.(1804-1806)Cgc>Tgc		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	52.0	48.0	49.0		1804,1804,1633,1633,1804,1285	-0.9	0.0	2		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	602/934,602/934,545/877,545/877,602/890,429/761	1497609	1,13005	2203	4300	6503	SO:0001583	missense	7173	0	0					g.chr2:1497609C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1804C>T	chr2.hg19:g.1497609C>T	ENSP00000318820:p.Arg602Cys	1					TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C	p.R602C	NM_000547.5	NP_000538.3	0	0	0	1.870656	P07202	PERT_HUMAN		11	1895	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	1	1	hg19	c.1804C>T	CCDS1643.1	0	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795939	0.31777	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.84	-0.86	0.10680	4.84	-0.86	0.10680	.	0.089088	0.64402	D	0.000001	D	0.84552	0.5497	H	0.94306	3.52	0.19300	N	0.999975	D;D;D;D	0.89917	1.0;0.967;1.0;1.0	D;B;D;D	0.78314	0.984;0.386;0.976;0.991	T	0.75462	-0.3309	10	0.87932	D	0	-13.2581	7.6609	0.28402	0.4098:0.4419:0.1484:0.0	.	602;429;545;602	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	602;602;602;429;602;545;429;531;76	ENSP00000337263:R602C;ENSP00000318820:R602C;ENSP00000263886:R602C;ENSP00000332044:R429C;ENSP00000329869:R602C;ENSP00000371636:R545C;ENSP00000371633:R429C;ENSP00000405788:R531C;ENSP00000419461:R76C	ENSP00000329869:R602C	R	+	1	0	0	TPO	1476616	1476616	0.002000	0.14202	0.000000	0.03702	0.088000	0.18126	1.273000	0.33121	-0.338000	0.08413	0.561000	0.74099	CGC	0.241842		TCGA-2J-AABF-01A-31D-A40W-08	0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1		2	2	2	0		0	0	24		24	24	1	1.840000	-19.998640	1	0.310000	NM_000547			14	14		93	90	1		1	0		0	0	24	0		0.999784	0	0	0	0	1	0	14	93
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000409435.1	-	1	188	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGTCCCCATAGATGAAGG	0.473																																						ENST00000409435.1	0.740000	0.320000	6.300000e-01	4.000000e-01	0.500000	0.522677	0.500000	0.500000																										0				108						c.(187-189)taT>taC		sodium channel, voltage-gated, type IX, alpha subunit	Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)						91.0	99.0	97.0					2																	167168078		2108	4270	6378	SO:0001819	synonymous_variant	6335	0	0					g.chr2:167168078A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.189T>C	chr2.hg19:g.167168078A>G		0					SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y	p.Y63Y			0	0	0	1.979556	Q15858	SCN9A_HUMAN		1	188	-			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	1	1	hg19	c.189T>C	CCDS46441.1	0																																																																																								0.283340		TCGA-2J-AABF-01A-31D-A40W-08	0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	1		2	2	2	0		0	0	86		86	85	1	1.840000	-20.000000	1	0.310000	NM_002977			20	20		225	219	0		1	0		0	0	86	0		0.999995	6.246450e-02	0	0	0	5	0	20	225
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000591111.1	-	75	21594	c.21370C>T	c.(21370-21372)Cga>Tga	p.R7124*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12700	Ig-like 53.				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)	p.R6197*(1)		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)			CCATTTAATCGACAAGTGAGT	0.418																																						ENST00000591111.1	1.000000	0.600000	9.400000e-01	7.000000e-01	0.810000	0.823446	0.810000	1.000000																										1	Substitution - Nonsense(1)	p.R6197*(1)	endometrium(1)	1448						c.(21370-21372)Cga>Tga		titin							94.0	91.0	92.0					2																	179587193		1865	4122	5987	SO:0001587	stop_gained	7273	1	120830	32				g.chr2:179587193G>A	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.21370C>T	chr2.hg19:g.179587193G>A	ENSP00000465570:p.Arg7124*	0					RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.R7124*			0	0	0	1.979556	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	75	21594	-			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	Nonsense_Mutation	SNP	ENST00000591111.1	0	1	hg19	c.21370C>T		0	.	.	.	.	.	.	.	.	.	.	G	58	31.894429	0.99979	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.05	0.67936	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2951	0.82767	0.0:0.0:0.8666:0.1334	.	.	.	.	X	6197	.	ENSP00000343764:R6197X	R	-	1	2	2	TTN	179295438	179295438	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.754000	0.55189	1.458000	0.47871	0.650000	0.86243	CGA	0.283340		TCGA-2J-AABF-01A-31D-A40W-08	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	84		84	83	1	1.840000	-18.107800	1	0.310000	NM_133378			42	42		276	272	0		1			0	0	84	0		1.000000	0	0	0	0	0	0	42	276
PIKFYVE	200576	broad.mit.edu	37	2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	964					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.P964L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGCTTGCCCGGCGGGTCTC	0.502																																						ENST00000264380.4	0.840000	0.420000	7.300000e-01	5.100000e-01	0.610000	0.628554	0.610000	0.620000																										1	Substitution - Missense(1)	p.P964L(1)	large_intestine(1)	107						c.(2890-2892)cCg>cTg		phosphoinositide kinase, FYVE finger containing							66.0	65.0	65.0					2																	209190426		2203	4300	6503	SO:0001583	missense	200576	4	121410	39				g.chr2:209190426C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2891C>T	chr2.hg19:g.209190426C>T	ENSP00000264380:p.Pro964Leu	0						p.P964L	NM_015040.3	NP_055855.2	0	0	0	1.979556	Q9Y2I7	FYV1_HUMAN		20	3049	+			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	1	1	hg19	c.2891C>T	CCDS2382.1	0	.	.	.	.	.	.	.	.	.	.	C	6.701	0.498060	0.12762	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.27890	1.64;1.81	6.07	4.22	0.49857	6.07	4.22	0.49857	.	0.284775	0.28187	N	0.016268	T	0.23926	0.0579	L	0.56769	1.78	0.52099	D	0.999943	B;B	0.28880	0.226;0.031	B;B	0.17098	0.017;0.006	T	0.05533	-1.0879	10	0.21014	T	0.42	-1.1002	6.4434	0.21863	0.1432:0.6971:0.0:0.1596	.	964;908	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	L	964;540;908	ENSP00000264380:P964L;ENSP00000405736:P908L	ENSP00000264380:P964L	P	+	2	0	0	PIKFYVE	208898671	208898671	0.000000	0.05858	0.381000	0.26106	0.040000	0.13550	0.619000	0.24388	0.830000	0.34757	0.650000	0.86243	CCG	0.283340		TCGA-2J-AABF-01A-31D-A40W-08	0.502	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	1	0	1		2	2	2	0		0	0	72		72	71	1	1.840000	-2.415705	0	0.310000	NM_015040			28	27		254	245	1		1	0		0	0	72	0		1.000000	7.965796e-01	0	0	0	29	0	28	254
TMEM17	200728	broad.mit.edu	37	2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	164					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATTAACCATTTTCCTTAAGGT	0.428																																						ENST00000335390.5	0.250000	0.060000	2.000000e-01	9.000000e-02	0.140000	0.151342	0.140000	0.140000																										0				9						c.(490-492)aAa>aCa		transmembrane protein 17							138.0	135.0	136.0					2																	62728450		2203	4300	6503	SO:0001583	missense	200728	0	0					g.chr2:62728450T>G		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.491A>C	chr2.hg19:g.62728450T>G	ENSP00000335094:p.Lys164Thr	1						p.K164T	NM_198276.2	NP_938017.2	0	0	0	1.870656	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)	4	702	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	0	1	hg19	c.491A>C	CCDS1871.1	0	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183817	0.21870	.	.	ENSG00000186889	ENST00000335390	T	0.46451	0.87	5.6	4.46	0.54185	5.6	4.46	0.54185	.	0.339048	0.37577	N	0.002032	T	0.23532	0.0569	N	0.17082	0.46	0.31589	N	0.654104	B	0.10296	0.003	B	0.15052	0.012	T	0.22556	-1.0213	10	0.15066	T	0.55	-10.2028	8.2015	0.31428	0.0:0.1897:0.0:0.8103	.	164	Q86X19	TMM17_HUMAN	T	164	ENSP00000335094:K164T	ENSP00000335094:K164T	K	-	2	0	0	TMEM17	62581954	62581954	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.866000	0.39489	0.988000	0.38734	0.528000	0.53228	AAA	0.241842		TCGA-2J-AABF-01A-31D-A40W-08	0.428	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	0	0	1		2	2	2	0		0	0	106		106	102	1	1.840000	-3.468187	1	0.310000	NM_198276			8	8		336	334	0		1	0		0	0	106	0		0.989324	9.857974e-02	0	0	0	20	0	8	336
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:80136879G>A	ENST00000402739.4	+	6	1017	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597																																						ENST00000402739.4	0.950000	0.420000	8.100000e-01	5.300000e-01	0.660000	0.679359	0.660000	0.660000																										2	Substitution - Missense(2)	p.V338M(2)	large_intestine(2)	78						c.(1012-1014)Gtg>Atg		catenin (cadherin-associated protein), alpha 2							43.0	50.0	48.0					2																	80136879		2087	4229	6316	SO:0001583	missense	1496	0	0					g.chr2:80136879G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1012G>A	chr2.hg19:g.80136879G>A	ENSP00000384638:p.Val338Met	1					CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M	p.V338M	NM_001282597.1	NP_001269526.1	0	0	0	1.870656	P26232	CTNA2_HUMAN		6	1017	+			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	1	1	hg19	c.1012G>A		0	.	.	.	.	.	.	.	.	.	.	G	33	5.255998	0.95336	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.077367	0.51477	D	0.000082	T	0.70386	0.3218	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.965;0.94	T	0.74819	-0.3535	10	0.87932	D	0	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	338;338;338	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	338;338;372;338;338;338	ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M	ENSP00000355398:V372M	V	+	1	0	0	CTNNA2	79990390	79990390	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	GTG	0.241842		TCGA-2J-AABF-01A-31D-A40W-08	0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1		2	2	2	0		0	0	60		60	59	1	1.840000	-20.000000	1	0.310000	NM_004389			20	20		156	154	1		1	0		0	0	60	0		0.999996	0	0	0	0	1	0	20	156
FAHD2B	151313	broad.mit.edu	37	2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	rs138523783	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	200							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTTCCCATTGCGTCTTGTTAG	0.597																																						ENST00000414820.1	1.000000	0.300000	1	3.800000e-01	0.480000	0.578885	0.480000	0.450000																										0				12						c.(598-600)cGc>cAc		fumarylacetoacetate hydrolase domain containing 2B		C	HIS/ARG	0,4406		0,0,2203	135.0	118.0	124.0		599	0.6	0.5	2	dbSNP_134	124	5,8595	4.3+/-15.6	0,5,4295	no	missense	FAHD2B	NM_199336.1	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	200/315	97751522	5,13001	2203	4300	6503	SO:0001583	missense	151313	54	121394	49				g.chr2:97751522C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.599G>A	chr2.hg19:g.97751522C>T	ENSP00000410470:p.Arg200His	1					FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H	p.R200H			0	3	3	2.172384	Q6P2I3	FAH2B_HUMAN		6	869	-			D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	1	1	hg19	c.599G>A	CCDS2030.1	0	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004787	0.35320	0.0	5.81E-4	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94758	-3.51;-3.51;-3.51	0.624	0.624	0.17659	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.122834	0.49916	N	0.000132	D	0.94666	0.8280	M	0.62088	1.915	0.41529	D	0.988442	D	0.89917	1.0	D	0.74348	0.983	D	0.91640	0.5326	10	0.59425	D	0.04	.	3.009	0.06038	0.0:0.6463:0.0:0.3537	.	200	Q6P2I3	FAH2B_HUMAN	H	200	ENSP00000410470:R200H;ENSP00000272610:R200H;ENSP00000444599:R200H	ENSP00000272610:R200H	R	-	2	0	0	FAHD2B	97115249	97115249	0.695000	0.27747	0.493000	0.27502	0.135000	0.20990	2.196000	0.42686	0.587000	0.29643	0.306000	0.20318	CGC	0.342607		TCGA-2J-AABF-01A-31D-A40W-08	0.597	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	1	0	1		2	2	2	0		0	0	80		80	79	1	1.840000	-6.539878	1	0.310000	NM_199336			23	22		321	312	0		1	0		0	0	80	0		0.999999	5.777530e-01	0	1	0	27	0	23	321
SPEG	10290	broad.mit.edu	37	2	220312960	220312960	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000396698.1_Silent_p.S256S|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	360					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716																																						ENST00000312358.7	0.920000	0.310000	7.500000e-01	4.300000e-01	0.570000	0.597056	0.570000	0.560000																										0				100						c.(1078-1080)tcG>tcA		SPEG complex locus							15.0	19.0	18.0					2																	220312960		1948	4099	6047	SO:0001819	synonymous_variant	10290	0	0					g.chr2:220312960G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1080G>A	chr2.hg19:g.220312960G>A		0					SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	p.S360S	NM_005876.4	NP_005867.3	0	0	0	1.979556	Q15772	SPEG_HUMAN		4	1212	+		Renal(207;0.0183)	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	1	1	hg19	c.1080G>A	CCDS42824.1	0																																																																																								0.283340		TCGA-2J-AABF-01A-31D-A40W-08	0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	1		2	2	2	0		0	0	32		32	32	1	1.840000	-16.766610	1	0.310000	NM_005876			11	11		109	108	0		1	1		0	0	32	0		0.998525	2.957465e-01	0	4	0	7	0	11	109
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T	rs201118680	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000460779.1	-	7	1162	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000383673.2_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Silent_p.A291A	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	291					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18832	0.001		0.0	False		,,,				2504	0.0					ENST00000460779.1	0.570000	0.320000	5.100000e-01	3.700000e-01	0.430000	0.447865	0.430000	0.440000																										0				36						c.(871-873)gcG>gcA		dopamine receptor D3	Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	T	,	0,4406		0,0,2203	194.0	199.0	198.0		873,	-3.8	0.9	3		198	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	DRD3	NM_000796.3,NM_033663.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	291/401,	113850098	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1814	10	121412	47				g.chr3:113850098C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.873G>A	chr3.hg19:g.113850098C>T		0					DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Silent_p.A291A	p.A291A	NM_001282563.1	NP_001269492.1	0	1	1	1.944136	P35462	DRD3_HUMAN		7	1162	-			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	1	1	hg19	c.873G>A	CCDS2978.1	0																																																																																								0.259498		TCGA-2J-AABF-01A-31D-A40W-08	0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	1	0	1		2	2	2	0		0	0	216		216	215	1	1.840000	-9.892280	1	0.310000	NM_000796.3			46	46		580	568	0		1			0	0	216	0		1.000000	0	0	0	0	0	0	46	580
SLC41A3	54946	broad.mit.edu	37	3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000315891.6	-	8	1199	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCACATATGACGGGGGTAAAT	0.517																																						ENST00000315891.6	0.700000	0.340000	6.100000e-01	4.100000e-01	0.500000	0.516512	0.500000	0.500000																										0				18						c.(961-963)Gtc>Atc		solute carrier family 41, member 3		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	217.0	183.0	194.0		961,853,883,610,961	-0.3	0.1	3	dbSNP_134	194	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign,benign,benign	321/508,285/472,295/462,204/371,321/488	125734346	3,13003	2203	4300	6503	SO:0001583	missense	54946	6	121412	41				g.chr3:125734346C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.961G>A	chr3.hg19:g.125734346C>T	ENSP00000326070:p.Val321Ile	0					SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I	p.V321I	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	0	1	1	1.944136	Q96GZ6	S41A3_HUMAN		8	1199	-			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	1	1	hg19	c.961G>A	CCDS33843.1	0	.	.	.	.	.	.	.	.	.	.	C	5.067	0.198048	0.09652	0.0	3.49E-4	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.54	-0.338	0.12651	4.54	-0.338	0.12651	MgtE magnesium transporter, integral membrane (1);	0.251067	0.38326	N	0.001725	T	0.13884	0.0336	N	0.13327	0.33	0.40992	D	0.984868	B;B;B;B;B	0.30851	0.012;0.113;0.074;0.297;0.021	B;B;B;B;B	0.28305	0.021;0.062;0.036;0.088;0.023	T	0.10451	-1.0629	10	0.30854	T	0.27	-0.0495	7.2713	0.26258	0.0:0.4217:0.0:0.5783	.	204;321;285;321;295	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	I	321;285;295;312;321;204	ENSP00000353533:V321I;ENSP00000264471:V285I;ENSP00000373092:V295I;ENSP00000326070:V321I;ENSP00000427409:V204I	ENSP00000326070:V321I	V	-	1	0	0	SLC41A3	127217036	127217036	0.137000	0.22531	0.054000	0.19295	0.012000	0.07955	0.556000	0.23438	-0.177000	0.10690	-0.218000	0.12543	GTC	0.259498		TCGA-2J-AABF-01A-31D-A40W-08	0.517	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	1		2	2	2	0		0	0	84		84	80	1	1.840000	-3.318789	1	0.310000	NM_017836			27	27		294	291	0		1	1		0	0	84	0		1.000000	9.966904e-01	0	10	0	89	0	27	294
SLC25A38	54977	broad.mit.edu	37	3	39431021	39431021	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTGGCTCCATCAGTGGGA	0.512																																						ENST00000273158.4	0.510000	0.210000	4.300000e-01	2.700000e-01	0.340000	0.360236	0.340000	0.340000																										0				11						c.(103-105)tcC>tcT		solute carrier family 25, member 38							211.0	175.0	187.0					3																	39431021		2203	4300	6503	SO:0001819	synonymous_variant	54977	0	0					g.chr3:39431021C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.105C>T	chr3.hg19:g.39431021C>T		0						p.S35S	NM_017875.2	NP_060345.2	0	1	1	1.921193				2	482	+				Silent	SNP	ENST00000273158.4	1	1	hg19	c.105C>T	CCDS2685.1	0																																																																																								0.253287		TCGA-2J-AABF-01A-31D-A40W-08	0.512	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	0	0	1		2	4	2	1		1	0	137		137	134	1	1.840000	-2.878425	1	0.310000	NM_017875			19	19		307	299	0		1	1		1	0	137	0		0.999989	7.263826e-01	0	7	0	77	0	19	307
COL6A6	131873	broad.mit.edu	37	3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R658L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACCAGATCGGGTGCAAATT	0.413																																						ENST00000358511.6	0.600000	0.320000	5.300000e-01	3.800000e-01	0.450000	0.459754	0.450000	0.450000																										1	Substitution - Missense(1)	p.R658L(1)	lung(1)	134						c.(1972-1974)cGg>cAg		collagen, type VI, alpha 6							168.0	161.0	163.0					3																	130287020		1892	4110	6002	SO:0001583	missense	131873	2	120836	37				g.chr3:130287020G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1973G>A	chr3.hg19:g.130287020G>A	ENSP00000351310:p.Arg658Gln	0					COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	p.R658Q	NM_001102608.1	NP_001096078.1	0	1	1	1.944136	A6NMZ7	CO6A6_HUMAN		5	2004	+			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	1	1	hg19	c.1973G>A	CCDS46911.1	0	.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201344	0.06219	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.53	3.16	0.36331	5.53	3.16	0.36331	von Willebrand factor, type A (3);	0.395727	0.21379	N	0.075504	T	0.58736	0.2143	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.35450	-0.9788	10	0.12103	T	0.63	.	6.1506	0.20310	0.4135:0.0:0.5865:0.0	.	658	A6NMZ7	CO6A6_HUMAN	Q	658	ENSP00000351310:R658Q;ENSP00000399236:R658Q	ENSP00000351310:R658Q	R	+	2	0	0	COL6A6	131769710	131769710	0.000000	0.05858	0.128000	0.21923	0.040000	0.13550	0.092000	0.15066	1.096000	0.41439	0.655000	0.94253	CGG	0.259498		TCGA-2J-AABF-01A-31D-A40W-08	0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	1		2	2	2	0		0	0	155		155	152	1	1.840000	-2.458455	0	0.310000	NM_001102608			37	37		455	449	0		1	0		0	0	155	0		1.000000	6.060606e-03	0	0	0	2	0	37	455
CRMP1	1400	broad.mit.edu	37	4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000397890.2	-	12	1655	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C|CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATTTTGACGCGCTGGTACAGG	0.592																																						ENST00000397890.2	0.640000	0.160000	5.000000e-01	2.400000e-01	0.350000	0.377244	0.350000	0.330000																										0				36						c.(1441-1443)Cgc>Tgc		collapsin response mediator protein 1							99.0	82.0	88.0					4																	5830236		2203	4300	6503	SO:0001583	missense	1400	0	0					g.chr4:5830236G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1441C>T	chr4.hg19:g.5830236G>A	ENSP00000380987:p.Arg481Cys	0					CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C	p.R481C	NM_001313.3	NP_001304.1	0	1	1	1.941065	Q14194	DPYL1_HUMAN		12	1655	-			A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	1	1	hg19	c.1441C>T	CCDS43207.1	0	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378726	0.82682	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.87029	-2.2;-2.13;-2.13	4.33	4.33	0.51752	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	0.99;0.995;0.99;1.0	P;P;P;D	0.97110	0.839;0.636;0.807;1.0	D	0.95043	0.8180	10	0.72032	D	0.01	-32.1342	15.9993	0.80280	0.0:0.0:1.0:0.0	.	595;479;481;418	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	595;481;481;479	ENSP00000321606:R595C;ENSP00000380987:R481C;ENSP00000425742:R479C	ENSP00000321606:R595C	R	-	1	0	0	CRMP1	5881137	5881137	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.184000	0.94893	2.245000	0.73994	0.561000	0.74099	CGC	0.261953		TCGA-2J-AABF-01A-31D-A40W-08	0.592	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	1	0	1		2	2	2	0		0	0	24		24	24	1	1.840000	-10.583090	1	0.310000	NM_001313			7	7		116	111	0		1	0		0	0	24	0		0.978014	8.392235e-01	0	0	0	58	0	7	116
GABRB1	2560	broad.mit.edu	37	4	47427807	47427807	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	399					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	CCTATGACAGCGCCAGCATCC	0.657																																						ENST00000295454.3	0.910000	0.420000	7.800000e-01	5.200000e-01	0.640000	0.657425	0.640000	0.630000																										0				44						c.(1195-1197)agC>agT		gamma-aminobutyric acid (GABA) A receptor, beta 1	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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)						46.0	52.0	50.0					4																	47427807		2203	4300	6503	SO:0001819	synonymous_variant	2560	0	0					g.chr4:47427807C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1197C>T	chr4.hg19:g.47427807C>T		0					GABRB1_ENST00000538619.1_Silent_p.S329S	p.S399S	NM_000812.3	NP_000803.2	0	1	1	1.941065	P18505	GBRB1_HUMAN		9	1489	+			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	1	1	hg19	c.1197C>T	CCDS3474.1	0																																																																																								0.261953		TCGA-2J-AABF-01A-31D-A40W-08	0.657	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1		2	2	2	0		0	0	55		55	54	1	1.840000	-20.000000	1	0.310000				22	22		184	180	1		1			0	0	55	0		0.999999	0	0	0	0	0	0	22	184
APC	324	broad.mit.edu	37	5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1252	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAAAGTTTCTTCTATTAAC	0.393		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	0.640000	0.230000	5.300000e-01	3.100000e-01	0.400000	0.423317	0.400000	0.400000		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	5q21	324	D, Mis, N, F, S	adenomatous polyposis of the colon gene				"""E, M, O"""	E, M, O		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	3261						c.(3754-3756)tCt>tAt		adenomatous polyposis coli							47.0	49.0	48.0					5																	112175046		2202	4300	6502	SO:0001583	missense	324	0	0		Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	g.chr5:112175046C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3755C>A	chr5.hg19:g.112175046C>A	ENSP00000413133:p.Ser1252Tyr	0	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron	p.S1252Y			0	1	1	1.925290	P25054	APC_HUMAN		16	4135	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	1	1	hg19	c.3755C>A	CCDS4107.1	0	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503801	0.26949	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90444	-2.49;-2.49;-2.49;-2.67	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.153741	0.45606	D	0.000360	T	0.80954	0.4723	N	0.08118	0	0.22803	N	0.998713	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.62515	-0.6838	9	.	.	.	-1.3032	16.4069	0.83677	0.132:0.868:0.0:0.0	.	1254;1252	Q4LE70;P25054	.;APC_HUMAN	Y	1252	ENSP00000413133:S1252Y;ENSP00000257430:S1252Y;ENSP00000427089:S1252Y;ENSP00000423828:S1252Y	.	S	+	2	0	0	APC	112202945	112202945	0.994000	0.37717	0.997000	0.53966	0.982000	0.71751	5.284000	0.65627	2.756000	0.94617	0.655000	0.94253	TCT	0.266815		TCGA-2J-AABF-01A-31D-A40W-08	0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	1		11	2	2	1		1	1	74		74	73	1	1.840000	-17.055120	1	0.310000	NM_000038			13	13		183	183	0		1	0		1	0	74	0		0.731619	3.385358e-01	0	1	0	16	0	13	183
TRDN	10345	broad.mit.edu	37	6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000398178.3	-	3	270	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000334268.4_Missense_Mutation_p.K83N|TRDN_ENST00000542443.1_Missense_Mutation_p.K83N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	83					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGAGCCAATCTTGGCAATAG	0.333																																						ENST00000398178.3	1.000000	0.170000	8.900000e-01	3.300000e-01	0.570000	0.601287	0.570000	1.000000																										0				41						c.(247-249)aaG>aaT		triadin							42.0	40.0	41.0					6																	123869741		1824	4075	5899	SO:0001583	missense	10345	0	0					g.chr6:123869741C>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.249G>T	chr6.hg19:g.123869741C>A	ENSP00000381240:p.Lys83Asn	0					TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000334268.4_Missense_Mutation_p.K83N	p.K83N	NM_006073.3	NP_006064.2	0	1	1	2.049205	Q13061	TRDN_HUMAN		3	270	-			A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	0	1	hg19	c.249G>T	CCDS55053.1	0	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855645	0.51376	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.68331	1.24;1.24;1.24;-0.32	5.29	4.42	0.53409	5.29	4.42	0.53409	Aspartyl beta-hydroxylase/Triadin domain (1);	0.207799	0.41294	D	0.000910	T	0.76076	0.3937	M	0.83012	2.62	0.32517	N	0.536805	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;0.993	D;D;D;D;D	0.83275	0.996;0.996;0.911;0.911;0.934	T	0.79431	-0.1806	10	0.72032	D	0.01	-3.8587	12.1537	0.54064	0.0:0.9204:0.0:0.0796	.	83;83;83;83;83	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	83	ENSP00000381240:K83N;ENSP00000333984:K83N;ENSP00000439281:K83N;ENSP00000437684:K83N	ENSP00000333984:K83N	K	-	3	2	2	TRDN	123911440	123911440	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.278000	0.43426	1.216000	0.43427	0.655000	0.94253	AAG	0.308929		TCGA-2J-AABF-01A-31D-A40W-08	0.333	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	10		10	10	1	1.840000	-8.175540	1	0.310000				3	3		34	33	0		1			0	0	10	0		0.803878	0	0	0	0	0	0	3	34
HEATR2	54919	broad.mit.edu	37	7	794231	794231	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	344						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCAGAGCGCCGCCCTGTGCT	0.547																																						ENST00000297440.6	1.000000	0.430000	6.800000e-01	4.900000e-01	0.570000	0.615106	0.570000	0.560000																										0				22						c.(1030-1032)Cgc>Tgc		HEAT repeat containing 2							126.0	139.0	135.0					7																	794231		2203	4300	6503	SO:0001583	missense	54919	0	0					g.chr7:794231C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1030C>T	chr7.hg19:g.794231C>T	ENSP00000297440:p.Arg344Cys	0					HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	p.R344C	NM_017802.3	NP_060272.3	1	2	3	2.131617	Q86Y56	HEAT2_HUMAN		5	1050	+		Ovarian(82;0.0112)	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	1	1	hg19	c.1030C>T	CCDS34580.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.25|17.25	3.342614|3.342614	0.61073|0.61073	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.73789	.|-0.78;-0.77	5.56|5.56	5.56|5.56	0.83823|0.83823	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.130641	.|0.52532	.|D	.|0.000078	D|D	0.86581|0.86581	0.5967|0.5967	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.986;0.994	D|D	0.88188|0.88188	0.2875|0.2875	5|10	.|0.87932	.|D	.|0	-46.9262|-46.9262	14.3636|14.3636	0.66789|0.66789	0.1481:0.8519:0.0:0.0|0.1481:0.8519:0.0:0.0	.|.	.|344;90	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	L|C	116;145|344;344;90	.|ENSP00000297440:R344C;ENSP00000321451:R344C	.|ENSP00000297440:R344C	P|R	+|+	2|1	0|0	0|0	HEATR2|HEATR2	760757|760757	760757|760757	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.044000|0.044000	0.14063|0.14063	5.258000|5.258000	0.65479|0.65479	2.603000|2.603000	0.88011|0.88011	0.561000|0.561000	0.74099|0.74099	CCG|CGC	0.324655		TCGA-2J-AABF-01A-31D-A40W-08	0.547	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	0		2	2	2	0		0	0	187		187	183	1	1.840000	-14.755810	1	0.310000	NM_017802			61	61		656	645	0		1	0		0	0	187	0		1.000000	6.637700e-01	0	0	0	26	0	61	656
SDK1	221935	broad.mit.edu	37	7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A	rs371754353		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1447	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGGAGTCCGCATACATCTT	0.662																																						ENST00000404826.2	1.000000	0.040000	2.600000e-01	8.000000e-02	0.140000	0.243644	0.140000	0.130000																										0				153						c.(4339-4341)Gca>Aca		sidekick cell adhesion molecule 1		G	THR/ALA	0,4406		0,0,2203	55.0	50.0	52.0		4339	5.0	0.7	7		52	2,8598	2.2+/-6.3	0,2,4298	no	missense	SDK1	NM_152744.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1447/2214	4185464	2,13004	2203	4300	6503	SO:0001583	missense	221935	22	121412	45				g.chr7:4185464G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4339G>A	chr7.hg19:g.4185464G>A	ENSP00000385899:p.Ala1447Thr	0					SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	p.A1447T	NM_152744.3	NP_689957.3	1	2	3	2.131617	Q7Z5N4	SDK1_HUMAN		29	4478	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	0	1	hg19	c.4339G>A	CCDS34590.1	0	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217704	0.39201	0.0	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56103	0.48;0.48	4.96	4.96	0.65561	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.31327	0.0793	N	0.04090	-0.28	0.27196	N	0.960291	P;P	0.52692	0.526;0.955	B;P	0.45343	0.138;0.477	T	0.11227	-1.0596	10	0.20519	T	0.43	.	10.7984	0.46474	0.0865:0.0:0.9135:0.0	.	1447;1447	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	1447	ENSP00000385899:A1447T;ENSP00000374182:A1447T	ENSP00000374182:A1447T	A	+	1	0	0	SDK1	4151990	4151990	0.978000	0.34361	0.687000	0.30102	0.880000	0.50808	3.755000	0.55197	2.296000	0.77279	0.462000	0.41574	GCA	0.324655		TCGA-2J-AABF-01A-31D-A40W-08	0.662	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	0	1		17	3	2	1		1	1	52		52	51	1	1.840000	-2.472564	0	0.310000	NM_152744			5	5		257	251	0		0	0		1	0	52	0		0.005992	1.005877e-02	0	0	0	18	0	5	257
TBX20	57057	broad.mit.edu	37	7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTCTCCGTCGCCTCCTTCTC	0.647																																						ENST00000408931.3	1.000000	0.190000	7.300000e-01	3.100000e-01	0.470000	0.518589	0.470000	0.420000																										0				18						c.(100-102)gCg>gTg		T-box 20							51.0	47.0	48.0					7																	35293131		2202	4300	6502	SO:0001583	missense	57057	0	0					g.chr7:35293131G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.101C>T	chr7.hg19:g.35293131G>A	ENSP00000386170:p.Ala34Val	0						p.A34V	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	1	2	3	2.104019	Q9UMR3	TBX20_HUMAN		1	627	-			A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	0	1	hg19	c.101C>T	CCDS43568.1	0	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501515	0.44455	.	.	ENSG00000164532	ENST00000408931	D	0.87809	-2.3	5.35	4.39	0.52855	5.35	4.39	0.52855	.	0.505372	0.22454	N	0.059858	T	0.72399	0.3455	N	0.08118	0	0.09310	N	0.999998	B	0.27971	0.196	B	0.15052	0.012	T	0.60286	-0.7293	10	0.30078	T	0.28	.	12.1051	0.53807	0.0936:0.0:0.9064:0.0	.	34	Q9UMR3	TBX20_HUMAN	V	34	ENSP00000386170:A34V	ENSP00000386170:A34V	A	-	2	0	0	TBX20	35259656	35259656	0.532000	0.26346	0.486000	0.27416	0.955000	0.61496	3.672000	0.54583	1.099000	0.41499	0.462000	0.41574	GCG	0.320532		TCGA-2J-AABF-01A-31D-A40W-08	0.647	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	1		2	2	2	0		0	0	32		32	32	1	1.840000	-10.285540	1	0.310000	NM_020417			6	6		86	84	0		1			0	0	32	0		0.964269	0	0	0	0	0	0	6	86
OGDH	4967	broad.mit.edu	37	7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	967					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGGCTACTATGACTACGTGAA	0.602																																						ENST00000222673.5	1.000000	0.060000	2.400000e-01	1.000000e-01	0.150000	0.226818	0.150000	0.140000																										0				36						c.(2899-2901)Gac>Aac		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Valproic Acid(DB00313)						116.0	94.0	102.0					7																	44747283		2203	4300	6503	SO:0001583	missense	4967	0	0					g.chr7:44747283G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2899G>A	chr7.hg19:g.44747283G>A	ENSP00000222673:p.Asp967Asn	0					OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	p.D967N	NM_002541.3	NP_002532.2	1	2	3	2.104019	Q02218	ODO1_HUMAN		22	2941	+			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	0	1	hg19	c.2899G>A	CCDS34627.1	0	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163705	0.78226	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	T	0.11495	0.0280	N	0.17278	0.47	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.001;0.002;0.002	B;B;B;B;B	0.12837	0.003;0.003;0.003;0.008;0.003	T	0.11494	-1.0585	10	0.42905	T	0.14	-41.9842	18.9009	0.92442	0.0:0.0:1.0:0.0	.	762;817;963;978;967	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	817;963;978;982;967;918	ENSP00000398576:D817N;ENSP00000392878:D963N;ENSP00000388183:D978N;ENSP00000414662:D982N;ENSP00000222673:D967N;ENSP00000443821:D918N	ENSP00000222673:D967N	D	+	1	0	0	OGDH	44713808	44713808	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.889000	0.87307	2.560000	0.86352	0.491000	0.48974	GAC	0.320532		TCGA-2J-AABF-01A-31D-A40W-08	0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	0	0	1		2	2	2	0		0	0	76		76	76	1	1.840000	-7.418161	1	0.310000				7	7		319	317	0		1	1		0	0	76	0		0.980471	9.872171e-01	0	8	0	354	0	7	319
WBSCR17	64409	broad.mit.edu	37	7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488																																						ENST00000333538.5	1.000000	0.050000	2.100000e-01	8.000000e-02	0.130000	0.209315	0.130000	0.130000																										0				100						c.(1141-1143)Cgg>Tgg		Williams-Beuren syndrome chromosome region 17							106.0	100.0	102.0					7																	71130456		2203	4300	6503	SO:0001583	missense	64409	4	121412	37				g.chr7:71130456C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1141C>T	chr7.hg19:g.71130456C>T	ENSP00000329654:p.Arg381Trp	0					WBSCR17_ENST00000498380.2_3'UTR	p.R381W	NM_022479.1	NP_071924.1	1	2	3	2.104019	Q6IS24	GLTL3_HUMAN		7	1775	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	0	1	hg19	c.1141C>T	CCDS5540.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033947	0.75504	.	.	ENSG00000185274	ENST00000333538	T	0.69175	-0.38	5.85	1.83	0.25207	5.85	1.83	0.25207	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.98936	4.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92381	0.5913	10	0.87932	D	0	.	15.3575	0.74440	0.6063:0.3937:0.0:0.0	.	381	Q6IS24	GLTL3_HUMAN	W	381	ENSP00000329654:R381W	ENSP00000329654:R381W	R	+	1	2	2	WBSCR17	70768392	70768392	0.877000	0.30153	1.000000	0.80357	0.987000	0.75469	1.218000	0.32467	0.362000	0.24319	-0.261000	0.10672	CGG	0.320532		TCGA-2J-AABF-01A-31D-A40W-08	0.488	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	0	1		2	2	2	0		0	0	74		74	72	1	1.840000	-3.100343	1	0.310000	NM_022479			7	7		364	361	0		1	0		0	0	74	0		0.980279	9.916344e-03	0	0	0	7	0	7	364
MLXIPL	51085	broad.mit.edu	37	7	73010006	73010006	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	757					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTTCGGACGTAGTCATCAA	0.632																																						ENST00000313375.3	1.000000	0.250000	6.900000e-01	3.600000e-01	0.490000	0.534831	0.490000	0.460000																										0				13						c.(2269-2271)taC>taT		MLX interacting protein-like							131.0	119.0	123.0					7																	73010006		2203	4300	6503	SO:0001819	synonymous_variant	51085	2	121398	37				g.chr7:73010006G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2271C>T	chr7.hg19:g.73010006G>A		0					MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	p.Y757Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	1	2	3	2.104019	Q9NP71	MLXPL_HUMAN		15	2318	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	1	1	hg19	c.2271C>T	CCDS5553.1	0																																																																																								0.320532		TCGA-2J-AABF-01A-31D-A40W-08	0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	1		2	2	2	0		0	0	33		33	32	1	1.840000	-15.307080	1	0.310000	NM_032951			11	11		144	141	0		1	0		0	0	33	0		0.998357	9.421377e-01	0	0	0	67	0	11	144
PEG10	23089	broad.mit.edu	37	7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGCCAAACGCAAGATCAGA	0.542																																						ENST00000482108.1	1.000000	0.930000	1	9.900000e-01	0.990000	0.995948	0.990000	1.000000																										0				21						c.(505-507)cGc>cAc		paternally expressed 10							140.0	146.0	144.0					7																	94293374		2013	4172	6185	SO:0001583	missense	23089	0	0					g.chr7:94293374G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.506G>A	chr7.hg19:g.94293374G>A	ENSP00000417587:p.Arg169His	0					PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	1	2	3	2.094140	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	2	985	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	1	1	hg19	c.506G>A	CCDS55126.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064561	0.55432	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14766	2.48;2.48	4.05	4.05	0.47172	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.26195	0.0639	L	0.35854	1.095	0.25927	N	0.983049	D;D	0.89917	0.999;1.0	D;D	0.81914	0.971;0.995	T	0.03287	-1.1052	9	0.48119	T	0.1	.	11.9358	0.52872	0.0:0.0:1.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	H	169	ENSP00000417587:R169H;ENSP00000418944:R169H	ENSP00000417587:R169H	R	+	2	0	0	PEG10	94131310	94131310	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	2.457000	0.45005	2.276000	0.75962	0.555000	0.69702	CGC	0.318451		TCGA-2J-AABF-01A-31D-A40W-08	0.542	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	0	1		15	2	2	1		1	1	149		149	148	1	1.840000	-20.000000	1	0.310000	NM_015068			103	102		495	487	1		1	0		1	0	149	0		1.000000	6.833320e-01	0	1	0	12	0	103	495
CADPS2	93664	broad.mit.edu	37	7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000449022.2	-	2	401	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	128					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGAGGAAGGCCTGGAACCGT	0.383																																						ENST00000449022.2	1.000000	0.260000	6.500000e-01	3.500000e-01	0.470000	0.515091	0.470000	0.440000																										0				43						c.(382-384)Gcc>Tcc		Ca++-dependent secretion activator 2							97.0	89.0	91.0					7																	122377080		1865	4119	5984	SO:0001583	missense	93664	0	0					g.chr7:122377080C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.382G>T	chr7.hg19:g.122377080C>A	ENSP00000398481:p.Ala128Ser	0					CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S	p.A128S	NM_017954.10	NP_060424.9	1	2	3	2.107667	Q86UW7	CAPS2_HUMAN		2	401	-			A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	1	1	hg19	c.382G>T	CCDS55158.1	0	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542347	0.27563	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.64	5.64	0.86602	5.64	5.64	0.86602	.	0.176929	0.49305	D	0.000151	T	0.60573	0.2279	N	0.05259	-0.085	0.53688	D	0.99997	B;B	0.25351	0.003;0.124	B;B	0.17979	0.014;0.02	T	0.59456	-0.7451	10	0.13853	T	0.58	-8.3102	13.6306	0.62193	0.1547:0.8453:0.0:0.0	.	128;128	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	128;128;128;95;128;128	ENSP00000325581:A128S;ENSP00000333940:A128S;ENSP00000400401:A128S;ENSP00000398481:A128S	ENSP00000325581:A128S	A	-	1	0	0	CADPS2	122164316	122164316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.736000	0.55052	2.631000	0.89168	0.585000	0.79938	GCC	0.320532		TCGA-2J-AABF-01A-31D-A40W-08	0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	1	0	1		2	2	2	0		0	0	47		47	45	1	1.840000	-6.009493	1	0.310000	NM_017954			13	13		177	174	0		1	1		0	0	47	0		0.999546	5.592725e-01	0	5	0	21	0	13	177
CHRNA2	1135	broad.mit.edu	37	8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000520933.2	-	5	1333	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	394					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCTTCAGGCGTAGGGGGTGG	0.667																																						ENST00000520933.2	1.000000	0.200000	5.100000e-01	2.800000e-01	0.380000	0.413193	0.380000	0.370000																										0				23						c.(1180-1182)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)						61.0	56.0	57.0					8																	27320780		2203	4300	6503	SO:0001583	missense	1135	0	0					g.chr8:27320780G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1180C>T	chr8.hg19:g.27320780G>A	ENSP00000429616:p.Arg394Cys	0					CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C	p.R394C			1	2	3	2.071426	Q15822	ACHA2_HUMAN		5	1333	-		Ovarian(32;2.61e-05)	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	1	1	hg19	c.1180C>T	CCDS6059.1	0	.	.	.	.	.	.	.	.	.	.	G	4.877	0.162980	0.09287	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.71222	-0.55;-0.55;-0.55	5.03	3.25	0.37280	5.03	3.25	0.37280	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.230070	0.05296	N	0.522105	T	0.68933	0.3055	M	0.76433	2.335	0.09310	N	1	P;B	0.48089	0.905;0.108	B;B	0.36719	0.231;0.03	T	0.58205	-0.7677	10	0.56958	D	0.05	.	8.6291	0.33908	0.0:0.7597:0.1553:0.085	.	379;394	B4DK19;Q15822	.;ACHA2_HUMAN	C	394;394;379	ENSP00000385026:R394C;ENSP00000429616:R394C;ENSP00000240132:R379C	ENSP00000240132:R379C	R	-	1	0	0	CHRNA2	27376697	27376697	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.600000	0.36762	0.720000	0.32209	-1.021000	0.02439	CGC	0.314252		TCGA-2J-AABF-01A-31D-A40W-08	0.667	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	1		2	2	2	0		0	0	53		53	49	1	1.840000	-15.002360	1	0.310000				12	11		197	193	0		1			0	0	53	0		0.999072	0	0	0	0	0	0	12	197
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537																																						ENST00000523207.1	1.000000	0.190000	4.200000e-01	2.500000e-01	0.320000	0.355901	0.320000	0.320000																										0				85						c.(175-177)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2	Dalfampridine(DB06637)						66.0	68.0	67.0					8																	73480145		2203	4300	6503	SO:0001583	missense	9312	0	0					g.chr8:73480145C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.176C>T	chr8.hg19:g.73480145C>T	ENSP00000430846:p.Thr59Met	0						p.T59M	NM_004770.2	NP_004761.2	1	2	3	2.071426	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)	2	764	+	Breast(64;0.137)		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	1	1	hg19	c.176C>T	CCDS6209.1	0	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	0	KCNB2	73642699	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG	0.314252		TCGA-2J-AABF-01A-31D-A40W-08	0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1		2	2	2	0		0	0	76		76	73	1	1.840000	-2.970177	1	0.310000	NM_004770			18	18		344	333	0		1	0		0	0	76	0		0.999978	3.658075e-02	0	0	0	6	0	18	344
CNBD1	168975	broad.mit.edu	37	8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	212										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCTCAAACAAACGTGTATAAA	0.368																																						ENST00000518476.1	1.000000	0.330000	6.000000e-01	4.000000e-01	0.490000	0.512170	0.490000	0.490000																										0				32						c.(634-636)aAc>aGc		cyclic nucleotide binding domain containing 1							147.0	132.0	137.0					8																	88249204		1840	4084	5924	SO:0001583	missense	168975	0	0					g.chr8:88249204A>G	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.635A>G	chr8.hg19:g.88249204A>G	ENSP00000430073:p.Asn212Ser	0					CNBD1_ENST00000522427.1_3'UTR	p.N212S	NM_173538.2	NP_775809.1	1	2	3	2.071426	Q8NA66	CNBD1_HUMAN		6	686	+				Missense_Mutation	SNP	ENST00000518476.1	1	1	hg19	c.635A>G	CCDS55259.1	0	.	.	.	.	.	.	.	.	.	.	A	3.275	-0.148197	0.06627	.	.	ENSG00000176571	ENST00000518476	T	0.16743	2.32	4.29	-2.76	0.05896	4.29	-2.76	0.05896	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.950470	0.02259	N	0.067417	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.25502	-1.0130	10	0.12103	T	0.63	0.0587	5.5245	0.16951	0.3422:0.4741:0.1837:0.0	.	212	Q8NA66	CNBD1_HUMAN	S	212	ENSP00000430073:N212S	ENSP00000430073:N212S	N	+	2	0	0	CNBD1	88318320	88318320	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.060000	0.14342	-0.458000	0.07023	0.533000	0.62120	AAC	0.314252		TCGA-2J-AABF-01A-31D-A40W-08	0.368	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	1	0	1		2	2	2	0		0	0	91		91	91	1	1.840000	-8.399606	1	0.310000	NM_173538			27	27		334	328	0		1			0	0	91	0		1.000000	0	0	0	0	0	0	27	334
PABPC1	26986	broad.mit.edu	37	8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L|PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	85	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGACCACATGATGCGTACT	0.398																																						ENST00000318607.5	1.000000	0.050000	2.500000e-01	9.000000e-02	0.150000	0.194506	0.150000	0.140000																										0				40						c.(253-255)Atg>Ttg		poly(A) binding protein, cytoplasmic 1							74.0	69.0	71.0					8																	101730449		2203	4300	6503	SO:0001583	missense	26986	0	0					g.chr8:101730449T>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.253A>T	chr8.hg19:g.101730449T>A	ENSP00000313007:p.Met85Leu	0					PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L	p.M85L	NM_002568.3	NP_002559.2	1	2	3	2.071426	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)	2	1381	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	0	1	hg19	c.253A>T	CCDS6289.1	0	.	.	.	.	.	.	.	.	.	.	T	32	5.114517	0.94339	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.37	5.37	0.77165	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.25245	0.725	0.58432	D	0.999995	P;P;P	0.42584	0.784;0.784;0.784	B;B;P	0.49953	0.188;0.387;0.627	T	0.09509	-1.0671	10	0.72032	D	0.01	.	15.6618	0.77193	0.0:0.0:0.0:1.0	.	85;85;85	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	L	85;85;40;85;40;85;85	ENSP00000313007:M85L;ENSP00000429594:M40L;ENSP00000429395:M85L;ENSP00000430159:M40L;ENSP00000429119:M85L;ENSP00000430012:M85L	ENSP00000313007:M85L	M	-	1	0	0	PABPC1	101799625	101799625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.020000	0.88740	2.167000	0.68274	0.528000	0.53228	ATG	0.314252		TCGA-2J-AABF-01A-31D-A40W-08	0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	0	1		2	2	2	0		0	0	48		48	47	1	1.840000	-3.399790	1	0.310000	NM_002568			4	4		182	180	0		1	0		0	0	48	0		0.888714	9.994862e-01	0	0	0	985	0	4	182
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	0.700000	1	8.300000e-01	0.950000	0.928024	0.950000	1.000000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																								1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	0	0					g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	chr9.hg19:g.21971120G>A	ENSP00000307101:p.Arg80*	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	0	1	1	1.763780	P42771	CD2A1_HUMAN		2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	0	1	hg19	c.238C>T	CCDS6510.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	0|2	CDKN2A|CDKN2A	21961120|21961120	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA	0.190853		TCGA-2J-AABF-01A-31D-A40W-08	0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		2	2	2	0		0	0	15		15	11	1	1.840000	-3.409088	1	0.310000	NM_000077			20	15		67	53	0		1	1	1	0	0	15	186		0.999979	9.999877e-01	9.999999e-01	44	21	28	91	20	67
PHKA2	5256	broad.mit.edu	37	X	18961884	18961884	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	221					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTCCTCCATGGGCTCCAAAA	0.458																																						ENST00000379942.4	0.140000	0.030000	1.100000e-01	5.000000e-02	0.070000	0.087591	0.070000	0.080000																										0				61						c.(661-663)Cat>Tat		phosphorylase kinase, alpha 2 (liver)							198.0	162.0	174.0					X																	18961884		2203	4300	6503	SO:0001583	missense	5256	0	0					g.chrX:18961884G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.661C>T	chrX.hg19:g.18961884G>A	ENSP00000369274:p.His221Tyr							p.H221Y	NM_000292.2	NP_000283.1	0	1	1		P46019	KPB2_HUMAN		7	1326	-	Hepatocellular(33;0.183)		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	0	1	hg19	c.661C>T	CCDS14190.1	0	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579135	0.46006	.	.	ENSG00000044446	ENST00000379942	D	0.88975	-2.45	5.43	4.57	0.56435	5.43	4.57	0.56435	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.141328	0.64402	N	0.000005	D	0.86973	0.6062	M	0.72894	2.215	0.53005	D	0.999968	B	0.02656	0.0	B	0.10450	0.005	T	0.82733	-0.0311	10	0.49607	T	0.09	-6.0265	9.6509	0.39897	0.0781:0.1382:0.7837:0.0	.	221	P46019	KPB2_HUMAN	Y	221	ENSP00000369274:H221Y	ENSP00000369274:H221Y	H	-	1	0	0	PHKA2	18871805	18871805	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.915000	0.56409	1.067000	0.40740	0.600000	0.82982	CAT	0.310000		TCGA-2J-AABF-01A-31D-A40W-08	0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	0	1		2	2	2	0		0	0	79		79	78	1	1.840000	-2.376369	0	0.310000	NM_000292			9	9		355	349	0		1	0		0	0	79	0		0.993914	1.059574e-01	0	0	0	20	0	9	355
ZNF182	7569	broad.mit.edu	37	X	47835701	47835701	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E595D(1)|p.E576D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATAGGGTTTCTCTCCAGTAT	0.443																																						ENST00000396965.1	0.600000	0.310000	5.300000e-01	3.700000e-01	0.440000	0.454222	0.440000	0.440000																										2	Substitution - Missense(2)	p.E595D(1)|p.E576D(1)	endometrium(2)	22						c.(1783-1785)gaG>gaC		zinc finger protein 182							119.0	102.0	108.0					X																	47835701		2203	4300	6503	SO:0001583	missense	7569	0	0					g.chrX:47835701C>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1785G>C	chrX.hg19:g.47835701C>G	ENSP00000380165:p.Glu595Asp						ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D	p.E595D	NM_001178099.1	NP_001171570.1	0	1	1		P17025	ZN182_HUMAN		7	2135	-			A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	1	1	hg19	c.1785G>C	CCDS35236.1	0	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395798	0.42512	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.26810	1.71;1.71;1.71	4.86	4.86	0.63082	4.86	4.86	0.63082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.48935	1.535	0.34356	D	0.690386	D;P;D	0.60575	0.987;0.861;0.988	P;P;P	0.59595	0.857;0.795;0.86	T	0.53648	-0.8409	9	0.66056	D	0.02	.	14.5199	0.67844	0.0:1.0:0.0:0.0	.	575;576;595	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	576;595;595	ENSP00000366142:E576D;ENSP00000380165:E595D;ENSP00000306351:E595D	ENSP00000306351:E595D	E	-	3	2	2	ZNF182	47720645	47720645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.087000	0.30865	2.397000	0.81536	0.544000	0.68410	GAG	0.310000		TCGA-2J-AABF-01A-31D-A40W-08	0.443	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	1	0	1		2	2	2	0		0	0	66		66	64	1	1.840000	-15.484660	1	0.310000	NM_006962			31	30		192	188	0		1	1		0	0	66	0		1.000000	8.278654e-01	0	4	0	18	0	31	192
BRWD3	254065	broad.mit.edu	37	X	79938009	79938009	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1451					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTTCTTAGACGTTTTCTGTA	0.368																																						ENST00000373275.4	0.160000	0.040000	1.300000e-01	6.000000e-02	0.090000	0.102463	0.090000	0.100000																										0				87						c.(4351-4353)cGt>cAt		bromodomain and WD repeat domain containing 3							304.0	238.0	260.0					X																	79938009		2203	4300	6503	SO:0001583	missense	254065	0	0					g.chrX:79938009C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4352G>A	chrX.hg19:g.79938009C>T	ENSP00000362372:p.Arg1451His						BRWD3_ENST00000473691.1_5'UTR	p.R1451H	NM_153252.4	NP_694984	0	1	1		Q6RI45	BRWD3_HUMAN		38	4568	-			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	1	1	hg19	c.4352G>A	CCDS14447.1	0	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031405	0.93575	.	.	ENSG00000165288	ENST00000373275	T	0.57595	0.39	4.82	4.82	0.62117	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.38175	1.15	0.51012	D	0.999905	D	0.76494	0.999	D	0.76071	0.987	T	0.61549	-0.7040	9	.	.	.	-11.5158	17.1252	0.86712	0.0:1.0:0.0:0.0	.	1451	Q6RI45	BRWD3_HUMAN	H	1451	ENSP00000362372:R1451H	.	R	-	2	0	0	BRWD3	79824665	79824665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.904000	0.75708	2.223000	0.72356	0.415000	0.27848	CGT	0.310000		TCGA-2J-AABF-01A-31D-A40W-08	0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	0	1		2	2	2	0		0	0	80		80	80	1	1.840000	-3.427475	1	0.310000	NM_153252			12	12		393	383	0		1	1		0	0	80	0		0.999005	3.625337e-01	0	2	0	38	0	12	393
