#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
CDKN2A	1029	broad.mit.edu	37	9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	rs575031539|rs104894104|rs387906410|rs121913386|rs587782797		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			GTCCACGGGCAGACGGC	-	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	ENST00000304494.5	-	2	602_618	c.332_348delGCCGTCTGCCCGTGGAC	c.(331-348)ggccgtctgcccgtggacfs	p.GRLPVD111fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111					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.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(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)		CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	0.970000	0.400000	0.870000	0.540000	0.700000	0.709172	0.700000	0.710000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17																								1426	Whole gene deletion(1316)|Substitution - Missense(52)|Unknown(44)|Deletion - Frameshift(6)|Substitution - coding silent(6)|Insertion - Frameshift(2)	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)	haematopoietic_and_lymphoid_tissue(285)|skin(196)|central_nervous_system(168)|lung(151)|urinary_tract(95)|bone(74)|upper_aerodigestive_tract(61)|soft_tissue(58)|oesophagus(54)|pleura(51)|ovary(36)|pancreas(35)|kidney(32)|breast(32)|biliary_tract(15)|thyroid(13)|NS(13)|stomach(12)|autonomic_ganglia(9)|liver(8)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|cervix(1)	4199	GRCh37	CI962238|CM004887|CM013695|CM014526|CM983988|CX073790	CDKN2A	I|M|X	rs104894104|rs121913386	c.(331-348)ggccgtctgcccgtggacfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029	0	0					g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	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.332_348delGCCGTCTGCCCGTGGAC	chr9.hg19:g.21971010_21971026delGTCCACGGGCAGACGGC	ENSP00000307101:p.Gly111fs	0	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GRLPVD60fs	p.GRLPVD111fs	NM_000077.4	NP_000068.1	0	1	1	1.907552	P42771	CD2A1_HUMAN		2	602_618	-		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	Frame_Shift_Del	DEL	ENST00000304494.5	0	1	hg19	c.332_348delGCCGTCTGCCCGTGGAC	CCDS6510.1	0																																																																																								0.086957		TCGA-IB-7649-01A-11D-2154-08	0.728	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		2		2	0		0	0	34		34	34	1	1.970000	-17.526030	1	0.160000	NM_000077			13	22		189	194	0		1	0	1	0	0	0	430		0.999738	0	9.999760e-01	0	13	0	284	13	189
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000396900.2	-	5	748	c.749T>A	c.(748-750)cTa>cAa	p.L250Q	BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000341083.3_Missense_Mutation_p.L198Q|BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	250						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522																																						ENST00000396900.2	1.000000	0.720000	1.000000	0.810000	0.910000	0.909130	0.910000	1.000000																										0				17						c.(748-750)cTa>cAa		BEN domain containing 7							118.0	121.0	120.0					10																	13534699		2203	4300	6503	SO:0001583	missense	222389	0	0					g.chr10:13534699A>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.749T>A	chr10.hg19:g.13534699A>T	ENSP00000380108:p.Leu250Gln	0					BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000341083.3_Missense_Mutation_p.L198Q|BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q	p.L250Q			0	0	0	1.954395	Q8N7W2	BEND7_HUMAN		5	748	-			Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	1	1	hg19	c.749T>A		1	.	.	.	.	.	.	.	.	.	.	A	0.062	-1.222652	0.01530	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.42900	0.97;0.96;1.01;1.0	5.57	1.77	0.24775	5.570000	1.770000	0.247750	.	1.910940	0.01827	N	0.034462	T	0.14743	0.0356	N	0.01352	-0.895	0.18873	N	0.999986	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.25537	-1.0129	10	0.11794	T	0.64	-0.0468	0.9763	0.01426	0.1446:0.1993:0.205:0.4511	.	263;198	E5RFC0;Q8N7W2-3	.;.	Q	250;198;263;211	ENSP00000380108:L250Q;ENSP00000345773:L198Q;ENSP00000380107:L263Q;ENSP00000367868:L211Q	ENSP00000345773:L198Q	L	-	2	0	0	BEND7	13574705	13574705	0.168000	0.22989	0.353000	0.25747	0.028000	0.11728	0.366000	0.20365	0.404000	0.25506	-0.347000	0.07816	CTA	0.135091		TCGA-IB-7649-01A-11D-2154-08	0.522	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	128		128	127	1	1.970000	-20.000000	1	0.160000	NM_152751			77	73		941	927	0		1	0		0	0	128	0		1.000000	4.574059e-01	0	0	0	20	0	77	941
SLC29A3	55315	broad.mit.edu	37	10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	248					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATGGGACTCTACCTGCTGCT	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5	0.670000	0.250000	0.550000	0.330000	0.430000	0.449034	0.430000	0.430000																										0				15						c.(742-744)Tac>Cac		solute carrier family 29 (equilibrative nucleoside transporter), member 3							134.0	96.0	109.0					10																	73115969		2203	4300	6503	SO:0001583	missense	55315	1	121412	34				g.chr10:73115969T>C	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.742T>C	chr10.hg19:g.73115969T>C	ENSP00000362285:p.Tyr248His	0					SLC29A3_ENST00000469204.1_3'UTR	p.Y248H	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	0	0	0	1.969661	Q9BZD2	S29A3_HUMAN		5	794	+			B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	0	1	hg19	c.742T>C	CCDS7310.1	0	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986026	0.53934	.	.	ENSG00000198246	ENST00000373189	T	0.69040	-0.37	4.64	4.64	0.57946	4.640000	4.640000	0.579460	.	0.079672	0.52532	D	0.000066	D	0.83271	0.5218	M	0.90922	3.16	0.46241	D	0.998940	P	0.52692	0.955	D	0.63283	0.913	D	0.89602	0.3835	9	0.87932	D	0	-16.1853	12.8084	0.57626	0.0:0.0:0.0:1.0	.	248	Q9BZD2	S29A3_HUMAN	H	248	ENSP00000362285:Y248H	ENSP00000362285:Y248H	Y	+	1	0	0	SLC29A3	72785975	72785975	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.100000	0.76989	1.961000	0.56991	0.460000	0.39030	TAC	0.142157		TCGA-IB-7649-01A-11D-2154-08	0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	0	0	1		2	2	2	0		0	0	60		60	60	1	1.970000	-14.941180	1	0.160000	NM_018344			15	15		413	400	0		1	1		0	0	60	0		0.999844	1.717905e-01	0	3	0	17	0	15	413
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	154					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363																																						ENST00000265990.6	1.000000	0.590000	0.980000	0.700000	0.830000	0.839907	0.830000	1.000000																										0				59						c.(460-462)Ggc>Cgc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							102.0	101.0	101.0					10																	93711219		2203	4300	6503	SO:0001583	missense	9044	0	0					g.chr10:93711219G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.460G>C	chr10.hg19:g.93711219G>C	ENSP00000265990:p.Gly154Arg	0						p.G154R	NM_003972.2	NP_003963.1	0	0	0	1.969661	O14981	BTAF1_HUMAN		5	768	+		Colorectal(252;0.0846)	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	1	1	hg19	c.460G>C	CCDS7419.1	0	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762311	0.89932	.	.	ENSG00000095564	ENST00000265990	D	0.96041	-3.89	4.97	4.97	0.65823	4.970000	4.970000	0.658230	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.98183	1.0458	10	0.59425	D	0.04	-22.9285	18.5949	0.91226	0.0:0.0:1.0:0.0	.	154	O14981	BTAF1_HUMAN	R	154	ENSP00000265990:G154R	ENSP00000265990:G154R	G	+	1	0	0	BTAF1	93701199	93701199	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.478000	0.83669	0.467000	0.42956	GGC	0.142157		TCGA-IB-7649-01A-11D-2154-08	0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	1		2	2	2	0		0	0	65		65	64	1	1.970000	-3.017765	1	0.160000	NM_003972			34	34		461	455	0		1	0		0	0	65	0		1.000000	3.890198e-01	0	0	0	19	0	34	461
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A	rs552025202	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000436272.1	-	20	2728	c.2650G>T	c.(2650-2652)Gag>Tag	p.E884*	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	884					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577																																						ENST00000436272.1	1.000000	0.990000	1.000000	0.990000	0.990000	0.998993	0.990000	1.000000																										0				22						c.(2650-2652)Gag>Tag		murine retrovirus integration site 1 homolog							62.0	63.0	63.0					11																	10597887		2001	4164	6165	SO:0001587	stop_gained	10335	0	0					g.chr11:10597887C>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2650G>T	chr11.hg19:g.10597887C>A	ENSP00000412229:p.Glu884*	1					MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|LYVE1_ENST00000531706.1_Intron	p.E884*			1	2	3	2.128915	Q9Y6F6	MRVI1_HUMAN		20	2728	-			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Nonsense_Mutation	SNP	ENST00000436272.1	0	1	hg19	c.2650G>T		1	.	.	.	.	.	.	.	.	.	.	C	37	6.421158	0.97555	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	.	.	.	5.82	5.82	0.92795	5.820000	5.820000	0.927950	.	0.067651	0.56097	D	0.000025	.	.	.	.	.	.	0.48236	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5337	17.8936	0.88879	0.0:1.0:0.0:0.0	.	.	.	.	X	902;885;884;820;820;596;596;911;705;903;820	.	ENSP00000307885:E885X	E	-	1	0	0	MRVI1	10554463	10554463	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	5.018000	0.64054	2.757000	0.94681	0.655000	0.94253	GAG	0.222222		TCGA-IB-7649-01A-11D-2154-08	0.577	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	28		28	28	1	1.970000	-6.550968	1	0.160000	NM_001098579			25	26		192	190	1		1	0	0	0	0	28	0		1.000000	8.910128e-01	0	0	0	32	1	25	192
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1042					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692																																						ENST00000533211.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				74						c.(3124-3126)gaG>gaC		spectrin, beta, non-erythrocytic 2							24.0	27.0	26.0					11																	66468444		2196	4289	6485	SO:0001583	missense	6712	0	0					g.chr11:66468444C>G	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3126G>C	chr11.hg19:g.66468444C>G	ENSP00000432568:p.Glu1042Asp	1					SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D	p.E1042D			1	2	3	2.119821	O15020	SPTN2_HUMAN		17	3457	-			O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	1	1	hg19	c.3126G>C	CCDS8150.1	1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165688	0.21538	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35048	1.33;1.33;1.33	4.7	3.79	0.43588	4.700000	3.790000	0.435880	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.49350	1.555	0.44562	D	0.997521	B	0.18013	0.025	B	0.20384	0.029	T	0.11991	-1.0565	10	0.33940	T	0.23	.	4.1851	0.10393	0.1848:0.6269:0.0:0.1883	.	1042	O15020	SPTN2_HUMAN	D	1042	ENSP00000432568:E1042D;ENSP00000311489:E1042D;ENSP00000433593:E1042D	ENSP00000311489:E1042D	E	-	3	2	2	SPTBN2	66225020	66225020	0.922000	0.31269	0.995000	0.50966	0.397000	0.30659	0.092000	0.15066	1.212000	0.43366	-0.339000	0.08088	GAG	0.222222		TCGA-IB-7649-01A-11D-2154-08	0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1		2	2	2	0		0	0	42		42	38	1	1.970000	-20.000000	1	0.160000	NM_006946			47	46		264	259	1		1			0	0	42	0		1.000000	0	0	0	0	0	0	47	264
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587																																						ENST00000294304.7	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				63						c.(3049-3051)Agc>Tgc		low density lipoprotein receptor-related protein 5							110.0	108.0	108.0					11																	68190978		2200	4294	6494	SO:0001583	missense	4041	0	0					g.chr11:68190978A>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3049A>T	chr11.hg19:g.68190978A>T	ENSP00000294304:p.Ser1017Cys	1						p.S1017C	NM_002335.2	NP_002326.2	1	2	3	2.119821	O75197	LRP5_HUMAN		14	3155	+			Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	1	1	hg19	c.3049A>T	CCDS8181.1	1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.026432	0.35701	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	4.03	-2.07	0.07276	4.030000	-2.070000	0.072760	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	D	0.83603	0.5290	L	0.32530	0.975	0.09310	N	1	P;P	0.40875	0.731;0.731	B;B	0.42087	0.375;0.375	T	0.77051	-0.2731	10	0.54805	T	0.06	.	9.1434	0.36917	0.6278:0.0:0.3722:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	C	1017	ENSP00000294304:S1017C	ENSP00000294304:S1017C	S	+	1	0	0	LRP5	67947554	67947554	0.013000	0.17824	0.008000	0.14137	0.893000	0.52053	0.331000	0.19733	-0.329000	0.08527	0.397000	0.26171	AGC	0.222222		TCGA-IB-7649-01A-11D-2154-08	0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1		2	2	2	0		0	0	115		115	113	1	1.970000	-20.000000	1	0.160000	NM_002335			122	118		694	674	1		1	1		0	0	115	0		1.000000	9.999779e-01	0	29	0	57	0	122	694
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	C	T	rs376813781		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000340149.2_Silent_p.P216P|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	254					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572																																						ENST00000361507.4	1.000000	0.620000	1.000000	0.750000	0.910000	0.891668	0.910000	1.000000																									INTS4/GAB2(2)	0				24						c.(760-762)ccG>ccA		GRB2-associated binding protein 2							88.0	70.0	76.0					11																	77937956		2200	4292	6492	SO:0001819	synonymous_variant	9846	4	121412	36				g.chr11:77937956C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.762G>A	chr11.hg19:g.77937956C>T		1					GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P216P	p.P254P	NM_080491.2	NP_536739.1	1	2	3	2.119821	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)	4	847	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	1	1	hg19	c.762G>A	CCDS8259.1	1																																																																																								0.222222		TCGA-IB-7649-01A-11D-2154-08	0.572	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	1	0	1		2	2	2	0		0	0	60		60	56	1	1.970000	-3.075761	1	0.160000	NM_080491			27	27		373	356	0		1	1		0	0	60	0		1.000000	4.550257e-01	0	2	0	20	0	27	373
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478																																						ENST00000265840.7	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				19						c.(958-960)gcG>gcA		ELMO/CED-12 domain containing 1							131.0	139.0	136.0					11																	107535878		2062	4204	6266	SO:0001819	synonymous_variant	55531	3	121008	38				g.chr11:107535878G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.960G>A	chr11.hg19:g.107535878G>A		1					ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	p.A320A	NM_018712.3	NP_061182.3	1	2	3	2.130045	Q8N336	ELMD1_HUMAN		12	1225	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	1	1	hg19	c.960G>A	CCDS44723.1	1																																																																																								0.222222		TCGA-IB-7649-01A-11D-2154-08	0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	1		2	2	2	0		0	0	156		156	156	1	1.970000	-20.000000	1	0.160000	NM_018712			166	163		772	764	1		1			0	0	156	0		1.000000	0	0	0	0	0	0	166	772
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	0.760000	1.000000	0.900000	0.990000	0.967083	0.990000	1.000000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	0	0		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.chr12:25380275T>G	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.183A>C	chr12.hg19:g.25380275T>G	ENSP00000256078:p.Gln61His	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	p.Q61H	NM_033360.2	NP_203524.1	0	1	1	2.003622	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)	3	246	-	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.183A>C	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	5.770000	5.770000	0.911460	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	2	KRAS	25271542	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	0.155949		TCGA-IB-7649-01A-11D-2154-08	0.423	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	49		49	49	1	1.970000	-20.000000	1	0.160000	NM_033360			36	36		382	379	0		1	1	1	0	0	49	732		1.000000	6.719822e-01	1	5	45	21	388	36	382
NBEA	26960	broad.mit.edu	37	13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000400445.3	+	36	6424	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000540320.1_Missense_Mutation_p.I1964V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1964					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTGAGCTCATCAATGAAGG	0.343																																						ENST00000400445.3	1.000000	0.380000	1.000000	0.620000	0.980000	0.856161	0.980000	1.000000																										0				108						c.(5890-5892)Atc>Gtc		neurobeachin							71.0	65.0	67.0					13																	35883716		1873	4123	5996	SO:0001583	missense	26960	0	0					g.chr13:35883716A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5890A>G	chr13.hg19:g.35883716A>G	ENSP00000383295:p.Ile1964Val	0					NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V|NBEA_ENST00000540320.1_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V	p.I1964V	NM_015678.4	NP_056493.3	1	2	3	2.020829	Q8NFP9	NBEA_HUMAN		36	6424	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	0	1	hg19	c.5890A>G	CCDS45026.1	1	.	.	.	.	.	.	.	.	.	.	A	6.507	0.461677	0.12342	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.46063	0.89;0.88;0.88;0.89	5.33	5.33	0.75918	5.330000	5.330000	0.759180	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.16130	0.375	0.80722	D	1	P;B	0.35612	0.512;0.008	B;B	0.24541	0.054;0.016	T	0.12863	-1.0531	10	0.05959	T	0.93	.	15.3088	0.74014	1.0:0.0:0.0:0.0	.	1964;1961	Q8NFP9;Q5T321	NBEA_HUMAN;.	V	1964;1964;1961;1964;591	ENSP00000440951:I1964V;ENSP00000383295:I1964V;ENSP00000369271:I1961V;ENSP00000308534:I1964V	ENSP00000308534:I1964V	I	+	1	0	0	NBEA	34781716	34781716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.029000	0.59856	0.533000	0.62120	ATC	0.166667		TCGA-IB-7649-01A-11D-2154-08	0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	12		12	12	1	1.970000	-5.048415	1	0.160000	NM_015678			5	5		64	64	0		1	0		0	0	12	0		0.939947	9.181216e-02	0	0	0	6	0	5	64
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000356287.3	-	12	1343	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000405093.3_Missense_Mutation_p.N438K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	438	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562																																						ENST00000356287.3	1.000000	0.590000	1.000000	0.710000	0.860000	0.862035	0.860000	1.000000																										0				119						c.(1312-1314)aaC>aaG		myosin, heavy chain 6, cardiac muscle, alpha							165.0	127.0	140.0					14																	23870014		2203	4300	6503	SO:0001583	missense	4624	0	0					g.chr14:23870014G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1314C>G	chr14.hg19:g.23870014G>C	ENSP00000348634:p.Asn438Lys	0					MYH6_ENST00000405093.3_Missense_Mutation_p.N438K	p.N438K			1	2	3	2.073408	P13533	MYH6_HUMAN		12	1343	-	all_cancers(95;2.54e-05)		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	1	1	hg19	c.1314C>G	CCDS9600.1	1	.	.	.	.	.	.	.	.	.	.	.	3.739	-0.053937	0.07362	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.03	4.03	0.46877	4.030000	4.030000	0.468770	Myosin head, motor domain (2);	.	.	.	.	T	0.71762	0.3378	N	0.02876	-0.465	0.38224	D	0.940852	B;B	0.30361	0.277;0.277	B;B	0.39339	0.297;0.297	T	0.69702	-0.5074	9	0.02654	T	1	.	12.1496	0.54042	0.0:0.3105:0.6895:0.0	.	438;438	D9YZU2;P13533	.;MYH6_HUMAN	K	438	ENSP00000386041:N438K;ENSP00000348634:N438K	ENSP00000348634:N438K	N	-	3	2	2	MYH6	22939854	22939854	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.099000	0.11007	1.978000	0.57642	0.580000	0.79431	AAC	0.177116		TCGA-IB-7649-01A-11D-2154-08	0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	1		2	2	2	0		0	0	91		91	91	1	1.970000	-20.000000	1	0.160000				35	33		505	488	0		1			0	0	91	0		1.000000	0	0	0	0	0	0	35	505
DDHD1	80821	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000323669.5	-	4	1257	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000357758.3_Missense_Mutation_p.D420N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363																																						ENST00000323669.5	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.D420H(2)	cervix(2)	25						c.(1258-1260)Gac>Aac		DDHD domain containing 1							172.0	163.0	166.0					14																	53558534		2203	4300	6503	SO:0001583	missense	80821	0	0					g.chr14:53558534C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1258G>A	chr14.hg19:g.53558534C>T	ENSP00000327104:p.Asp420Asn	0					DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N|DDHD1_ENST00000357758.3_Missense_Mutation_p.D420N	p.D420N	NM_001160148.1	NP_001153620.1	1	2	3	2.073408	Q8NEL9	DDHD1_HUMAN		4	1257	-	Breast(41;0.037)		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	1	1	hg19	c.1258G>A	CCDS53895.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.160544	0.94727	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	5.580000	5.580000	0.844980	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.99;0.999;0.936	T	0.71206	-0.4661	10	0.52906	T	0.07	-20.9578	19.563	0.95380	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	420;427;420;291	ENSP00000327104:D420N;ENSP00000378970:D427N;ENSP00000350401:D420N	ENSP00000327104:D420N	D	-	1	0	0	DDHD1	52628284	52628284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.630000	0.89119	0.561000	0.74099	GAC	0.177116		TCGA-IB-7649-01A-11D-2154-08	0.363	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1		2	2	2	0		0	0	83		83	83	1	1.970000	-20.000000	1	0.160000				83	81		567	562	1		1	1		0	0	83	0		1.000000	4.229593e-01	0	2	0	9	0	83	567
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A	rs200967826		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	130										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16187	0.001		0.0	False		,,,				2504	0.0					ENST00000569673.1	1.000000	0.990000	1.000000	0.990000	0.990000	0.999998	0.990000	1.000000																										0				15						c.(388-390)tCg>tTg		chromosome 15 open reading frame 59							57.0	62.0	60.0					15																	74032751		2197	4295	6492	SO:0001583	missense	388135	3	121410	37				g.chr15:74032751G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.389C>T	chr15.hg19:g.74032751G>A	ENSP00000457205:p.Ser130Leu	0					C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR	p.S130L			0	1	1	1.924905	Q2T9L4	CO059_HUMAN		3	1593	-				Missense_Mutation	SNP	ENST00000569673.1	1	1	hg19	c.389C>T	CCDS32289.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.372	1.070796	0.20147	.	.	ENSG00000205363	ENST00000379822	T	0.45276	0.9	4.62	3.71	0.42584	4.620000	3.710000	0.425840	.	0.982181	0.08300	N	0.967019	T	0.23171	0.0560	N	0.08118	0	0.26565	N	0.973666	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.28530	T	0.3	.	7.1777	0.25755	0.0896:0.0:0.7437:0.1667	.	130	Q2T9L4	CO059_HUMAN	L	130	ENSP00000369150:S130L	ENSP00000369150:S130L	S	-	2	0	0	C15orf59	71819804	71819804	0.002000	0.14202	0.245000	0.24217	0.633000	0.38033	0.051000	0.14141	1.156000	0.42514	0.561000	0.74099	TCG	0.127907		TCGA-IB-7649-01A-11D-2154-08	0.627	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	1	0	1		2	2	2	0		0	0	129		129	127	1	1.970000	-20.000000	1	0.160000	NM_001039614			89	87		607	588	1		1	0		0	0	129	0		1.000000	4.234473e-01	0	0	0	11	0	89	607
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T	rs374720304		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662																																						ENST00000262518.4	1.000000	0.360000	0.820000	0.450000	0.570000	0.627650	0.570000	0.540000																										1	Substitution - Missense(1)	p.P2791L(1)	lung(1)	136						c.(8371-8373)cCg>cTg		Snf2-related CREBBP activator protein		C	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	55.0	62.0	60.0		8372	4.1	1.0	16		60	0,8600		0,0,4300	no	missense	SRCAP	NM_006662.2	98	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	2791/3231	30749733	1,12993	2197	4300	6497	SO:0001583	missense	10847	11	121006	43				g.chr16:30749733C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8372C>T	chr16.hg19:g.30749733C>T	ENSP00000262518:p.Pro2791Leu	0					SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L|RP11-2C24.4_ENST00000483578.1_lincRNA	p.P2791L	NM_006662.2	NP_006653.2	1	2	3	2.044983	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	34	8757	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	1	1	hg19	c.8372C>T	CCDS10689.2	0	.	.	.	.	.	.	.	.	.	.	C	1.783	-0.481343	0.04383	2.28E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.8;-2.82;-2.81	5.04	4.07	0.47477	5.040000	4.070000	0.474770	.	0.266926	0.27122	N	0.020822	T	0.75087	0.3802	N	0.08118	0	0.34513	D	0.707273	P;P	0.39624	0.681;0.553	B;B	0.25140	0.058;0.026	T	0.81141	-0.1068	10	0.59425	D	0.04	-8.0891	8.3108	0.32071	0.1775:0.651:0.1714:0.0	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2791;2729;2633	ENSP00000262518:P2791L;ENSP00000378499:P2729L;ENSP00000343042:P2633L	ENSP00000262518:P2791L	P	+	2	0	0	SRCAP	30657234	30657234	0.061000	0.20836	0.988000	0.46212	0.069000	0.16628	0.750000	0.26334	1.316000	0.45131	0.591000	0.81541	CCG	0.171924		TCGA-IB-7649-01A-11D-2154-08	0.662	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1		2	2	2	0		0	0	84		84	81	1	1.970000	-2.725519	1	0.160000	NM_006662			22	22		485	477	0		1	1		0	0	84	0		0.999999	5.361589e-01	0	5	0	35	0	22	485
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000354436.2	+	5	1412	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T289I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	365	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423																																						ENST00000354436.2	0.840000	0.430000	0.740000	0.520000	0.620000	0.633127	0.620000	0.620000																										0				37						c.(1093-1095)aCt>aTt		nuclear factor of activated T-cells 5, tonicity-responsive							134.0	123.0	127.0					16																	69689654		2198	4300	6498	SO:0001583	missense	10725	0	0					g.chr16:69689654C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1094C>T	chr16.hg19:g.69689654C>T	ENSP00000346420:p.Thr365Ile	0					NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T289I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I	p.T365I	NM_006599.3	NP_006590.1	0	1	1	1.918769	O94916	NFAT5_HUMAN		5	1412	+			A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	1	1	hg19	c.1094C>T	CCDS10881.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.087559	0.94100	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.58	5.58	0.84498	5.580000	5.580000	0.844980	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74630	-0.3601	10	0.87932	D	0	-2.7308	19.5696	0.95406	0.0:1.0:0.0:0.0	.	383;365;383;289	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	I	383;383;289;365;289	ENSP00000396538:T383I;ENSP00000338806:T289I;ENSP00000346420:T365I;ENSP00000377343:T289I	ENSP00000338806:T289I	T	+	2	0	0	NFAT5	68247155	68247155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.638000	0.89438	0.467000	0.42956	ACT	0.086957		TCGA-IB-7649-01A-11D-2154-08	0.423	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	1		2	2	2	0		0	0	63		63	62	1	1.970000	-6.261738	1	0.160000	NM_138714			31	30		537	530	0		1	0		0	0	63	0		1.000000	1.252076e-01	0	0	0	11	0	31	537
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000486880.2_Silent_p.E339E|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	218					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363																																						ENST00000261647.5	1.000000	0.890000	1.000000	0.940000	0.970000	0.975159	0.970000	0.990000																										0				5						c.(652-654)gaA>gaG		tetratricopeptide repeat domain 19							103.0	112.0	109.0					17																	15909860		2203	4300	6503	SO:0001819	synonymous_variant	54902	0	0					g.chr17:15909860A>G	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.654A>G	chr17.hg19:g.15909860A>G		0					TTC19_ENST00000486880.2_Silent_p.E339E|TTC19_ENST00000497842.2_3'UTR	p.E218E	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	0	1	1	1.923930	Q6DKK2	TTC19_HUMAN		7	1123	+			A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	1	1	hg19	c.654A>G	CCDS11174.2	1																																																																																								0.086957		TCGA-IB-7649-01A-11D-2154-08	0.363	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	1	0	1		2	2	2	0		0	0	73		73	72	1	1.970000	-20.000000	1	0.160000	NM_017775			69	66		398	389	1		1	1		0	0	73	0		1.000000	9.963362e-01	0	4	0	47	0	69	398
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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	0.870000	1.000000	0.930000	0.970000	0.968896	0.970000	0.990000		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		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	24185	GRCh37	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579311C>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.375+1G>A	chr17.hg19:g.7579311C>T		0	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_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site		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	1.914430	P04637	P53_HUMAN		4	565	-		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	Splice_Site	SNP	ENST00000269305.4	1	1	hg19		CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	4.300000	4.300000	0.512180	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	TP53	7520036	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.	0.086957		TCGA-IB-7649-01A-11D-2154-08	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	96		96	96	1	1.970000	-20.000000	1	0.160000	NM_000546	Intron		65	65		427	423	1		1		1	0	0	96	80		1.000000	0	9.994936e-01	0	11	0	64	65	427
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	G	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	CACNB1_ENST00000344140.5_Splice_Site_p.P427H|RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Splice_Site_p.P382H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	382					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3	1.000000	0.930000	1.000000	0.990000	0.990000	0.996361	0.990000	1.000000																										0				16						c.(1144-1146)cCt>cAt		calcium channel, voltage-dependent, beta 1 subunit	Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)						110.0	108.0	109.0					17																	37334238		2203	4300	6503	SO:0001630	splice_region_variant	782	0	0					g.chr17:37334238G>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1146+1C>A	chr17.hg19:g.37334238G>T		0					RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000344140.5_Splice_Site_p.P427H|CACNB1_ENST00000394310.3_Splice_Site_p.P382H	p.P382H	NM_000723.4	NP_000714.3	1	2	3	2.052635	Q02641	CACB1_HUMAN		12	1352	-			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Splice_Site	SNP	ENST00000394303.3	0	1	hg19	c.1145C>A	CCDS42311.1	1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409770	0.62399	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83250	-1.7;-1.7;-1.7	5.12	5.12	0.69794	5.120000	5.120000	0.697940	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.953;0.683;0.999	D	0.92338	0.5879	10	0.87932	D	0	-17.0252	17.493	0.87709	0.0:0.0:1.0:0.0	.	427;382;382	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	H	332;382;427;382;333	ENSP00000377840:P382H;ENSP00000345461:P427H;ENSP00000377847:P382H	ENSP00000345461:P427H	P	-	2	0	0	CACNB1	34587764	34587764	1.000000	0.71417	0.928000	0.36995	0.384000	0.30261	7.501000	0.81600	2.674000	0.91012	0.467000	0.42956	CCT	0.173228		TCGA-IB-7649-01A-11D-2154-08	0.537	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3	0	0	1		21	2	2	1		1	1	100		100	99	1	1.970000	-2.920853	1	0.160000		Missense_Mutation		62	61		598	588	0		1	0		1	0	100	0		0.999999	7.497873e-02	0	1	0	4	0	62	598
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000591446.2	+	7	1660	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	MIDN_ENST00000300952.2_Missense_Mutation_p.H417Q|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	417						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTACCACTGGTCACCCA	0.706																																						ENST00000591446.2	1.000000	0.620000	1.000000	0.790000	0.990000	0.924009	0.990000	1.000000																										0				13						c.(1249-1251)caC>caA		midnolin							15.0	20.0	18.0					19																	1257115		2198	4280	6478	SO:0001583	missense	90007	0	0					g.chr19:1257115C>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1251C>A	chr19.hg19:g.1257115C>A	ENSP00000467679:p.His417Gln	0					MIDN_ENST00000300952.2_Missense_Mutation_p.H417Q|CIRBP_ENST00000588030.1_5'Flank	p.H417Q			1	2	3	2.034277	Q504T8	MIDN_HUMAN		7	1660	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	1	1	hg19	c.1251C>A	CCDS32864.1	1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.464720	0.26335	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	2.35	0.29111	3.440000	2.350000	0.291110	.	0.065017	0.64402	U	0.000010	T	0.33673	0.0871	N	0.21448	0.665	0.39096	D	0.961197	B	0.30824	0.296	B	0.31442	0.13	T	0.25222	-1.0138	9	0.40728	T	0.16	-22.3707	7.0601	0.25121	0.0:0.774:0.0:0.226	.	417	Q504T8	MIDN_HUMAN	Q	417	.	ENSP00000300952:H417Q	H	+	3	2	2	MIDN	1208115	1208115	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	1.267000	0.33050	1.756000	0.51951	0.486000	0.48141	CAC	0.169304		TCGA-IB-7649-01A-11D-2154-08	0.706	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2	1	0	1		2	2	2	0		0	0	46		46	46	1	1.970000	-20.000000	1	0.160000				20	19		240	233	0		1	0		0	0	46	0		0.999995	0	0	0	0	1	0	20	240
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5	1.000000	0.980000	1.000000	0.990000	0.990000	0.998591	0.990000	1.000000																										0				17						c.(1465-1467)aAt>aGt		zinc finger protein 653							199.0	169.0	179.0					19																	11596575		2203	4300	6503	SO:0001583	missense	115950	0	0					g.chr19:11596575T>C	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1466A>G	chr19.hg19:g.11596575T>C	ENSP00000293771:p.Asn489Ser	0					CTC-398G3.6_ENST00000585656.1_Intron	p.N489S	NM_138783.3	NP_620138.2	1	2	3	2.034277	Q96CK0	ZN653_HUMAN		7	1602	-			Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	1	1	hg19	c.1466A>G	CCDS12261.1	1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348165	0.82132	.	.	ENSG00000161914	ENST00000293771	T	0.27557	1.66	5.26	5.26	0.73747	5.260000	5.260000	0.737470	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.59436	1.845	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.53457	-0.8436	10	0.72032	D	0.01	-65.4624	14.4764	0.67548	0.0:0.0:0.0:1.0	.	489	Q96CK0	ZN653_HUMAN	S	489	ENSP00000293771:N489S	ENSP00000293771:N489S	N	-	2	0	0	ZNF653	11457575	11457575	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.257000	0.78362	2.135000	0.66039	0.459000	0.35465	AAT	0.169304		TCGA-IB-7649-01A-11D-2154-08	0.562	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	1	0	1		2	2	2	0		0	0	94		94	94	1	1.970000	-20.000000	1	0.160000	NM_138783			63	63		570	558	1		1	1		0	0	94	0		1.000000	7.467700e-01	0	5	0	21	0	63	570
ZNRF4	148066	broad.mit.edu	37	19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	117						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCGGATCTGCCGGCGCTGTTC	0.672																																						ENST00000222033.4	1.000000	0.270000	0.620000	0.350000	0.450000	0.511999	0.450000	0.430000																										0				16						c.(349-351)cCg>cTg		zinc and ring finger 4							49.0	58.0	55.0					19																	5455852		2101	4206	6307	SO:0001583	missense	148066	2	120894	38				g.chr19:5455852C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.350C>T	chr19.hg19:g.5455852C>T	ENSP00000222033:p.Pro117Leu	0						p.P117L	NM_181710.3	NP_859061.3	1	2	3	2.034277	Q8WWF5	ZNRF4_HUMAN		1	427	+			A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	1	1	hg19	c.350C>T	CCDS42475.1	0	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346448	0.41599	.	.	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.55	4.55	0.56014	4.550000	4.550000	0.560140	.	0.000000	0.85682	U	0.000000	T	0.25680	0.0625	M	0.81682	2.555	0.52099	D	0.999943	D	0.89917	1.0	D	0.72625	0.978	T	0.02059	-1.1221	10	0.87932	D	0	.	13.9999	0.64427	0.0:1.0:0.0:0.0	.	117	Q8WWF5	ZNRF4_HUMAN	L	117	ENSP00000222033:P117L	ENSP00000222033:P117L	P	+	2	0	0	ZNRF4	5406852	5406852	0.939000	0.31865	0.297000	0.24988	0.033000	0.12548	4.439000	0.59968	2.082000	0.62665	0.491000	0.48974	CCG	0.169304		TCGA-IB-7649-01A-11D-2154-08	0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	0	1		2	2	2	0		0	0	81		81	79	1	1.970000	-2.975607	1	0.160000	NM_181710			20	20		562	542	0		1			0	0	81	0		0.999993	0	0	0	0	0	0	20	562
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	hsa-mir-150_ENST00000602157.1_5'Flank|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537																																						ENST00000270625.2	1.000000	0.990000	1.000000	0.990000	0.990000	0.999998	0.990000	1.000000																										0				7						c.(211-213)Cgg>Tgg		ribosomal protein S11							81.0	76.0	78.0					19																	50000840		2203	4300	6503	SO:0001583	missense	6205	0	0					g.chr19:50000840C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.211C>T	chr19.hg19:g.50000840C>T	ENSP00000270625:p.Arg71Trp	0					hsa-mir-150_ENST00000602157.1_5'Flank|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W	p.R71W	NM_001015.4	NP_001006.1	1	2	3	2.046686	P62280	RS11_HUMAN		3	294	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	1	1	hg19	c.211C>T	CCDS12769.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701530	0.48307	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.12	2.89	0.33648	5.120000	2.890000	0.336480	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.059690	0.64402	N	0.000002	T	0.54498	0.1862	M	0.67517	2.055	0.58432	D	0.999999	B	0.16802	0.019	B	0.08055	0.003	T	0.50725	-0.8794	8	.	.	.	-23.5769	8.2881	0.31941	0.1534:0.7625:0.0:0.0842	.	71	P62280	RS11_HUMAN	W	71	.	.	R	+	1	2	2	RPS11	54692652	54692652	0.995000	0.38212	0.965000	0.40720	0.743000	0.42351	3.032000	0.49736	1.164000	0.42652	0.561000	0.74099	CGG	0.173879		TCGA-IB-7649-01A-11D-2154-08	0.537	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	1	0	1		24	227	2	1		1	1	74		74	73	1	1.970000	-3.221884	1	0.160000	NM_001015			71	71		499	491	0		1	1		1	0	74	0		1.000000	1	0	1079	0	6701	0	71	499
SGIP1	84251	broad.mit.edu	37	1	67109277	67109277	+	Missense_Mutation	SNP	G	G	A	rs17490057	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:67109277G>A	ENST00000371037.4	+	7	411	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SGIP1_ENST00000237247.6_Missense_Mutation_p.E116K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E88K|SGIP1_ENST00000371035.3_Missense_Mutation_p.E69K|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371036.3_Missense_Mutation_p.E87K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGAAGAAGAAGAATCACATAA	0.343																																						ENST00000371037.4	1.000000	0.990000	1.000000	0.990000	0.990000	0.999995	0.990000	1.000000																										0				71						c.(334-336)Gaa>Aaa		SH3-domain GRB2-like (endophilin) interacting protein 1							88.0	89.0	89.0					1																	67109277		2203	4300	6503	SO:0001583	missense	84251	0	0					g.chr1:67109277G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.334G>A	chr1.hg19:g.67109277G>A	ENSP00000360076:p.Glu112Lys	0					SGIP1_ENST00000371036.3_Missense_Mutation_p.E87K|SGIP1_ENST00000371035.3_Missense_Mutation_p.E69K|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.E88K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E116K	p.E112K	NM_032291.2	NP_115667.2	0	2	2	1.927769	Q9BQI5	SGIP1_HUMAN		7	411	+			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	1	0	hg19	c.334G>A	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671407	0.88348	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03982	3.74;3.74;3.74;3.74;3.74;3.74	5.3	5.3	0.74995	5.300000	5.300000	0.749950	.	0.048588	0.85682	D	0.000000	T	0.06188	0.0160	M	0.67397	2.05	0.19945	P	0.9999488341	P	0.46987	0.888	P	0.44561	0.453	T	0.25398	-1.0133	9	0.44086	T	0.13	-19.0025	19.3168	0.94218	0.0:0.0:1.0:0.0	.	112	Q9BQI5	SGIP1_HUMAN	K	116;88;112;69;115;115;87;112	ENSP00000237247:E116K;ENSP00000360078:E88K;ENSP00000410439:E112K;ENSP00000360074:E69K;ENSP00000360075:E87K;ENSP00000360076:E112K	ENSP00000237247:E116K	E	+	1	0	0	SGIP1	66881865	66881865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.260000	0.95568	2.631000	0.89168	0.655000	0.94253	GAA	0.160000		TCGA-IB-7649-01A-11D-2154-08	0.343	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	0	1		22	2	2	1		1	1	64		64	64	1	1.970000	-3.015427	1	0.160000	NM_032291			59	57		396	397	1		1	0		1	0	64	0		0.999996	3.845633e-01	0	0	0	10	0	59	396
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	464	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637																																						ENST00000367175.1	1.000000	0.710000	1.000000	0.880000	0.990000	0.959358	0.990000	1.000000																										0				38						c.(1390-1392)cGa>cAa		leucine rich repeat neuronal 2							59.0	55.0	56.0					1																	204587730		2203	4300	6503	SO:0001583	missense	10446	1	121412	30				g.chr1:204587730C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1391G>A	chr1.hg19:g.204587730C>T	ENSP00000356143:p.Arg464Gln	0					LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA	p.R464Q			1	2	3	2.054711	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)	1	3603	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	1	1	hg19	c.1391G>A	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616534	0.46736	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.66099	-0.19;-0.19;-0.19	5.53	5.53	0.82687	5.530000	5.530000	0.826870	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002967	T	0.63522	0.2518	L	0.27975	0.815	0.40277	D	0.978359	D	0.76494	0.999	D	0.67103	0.949	T	0.66248	-0.5971	10	0.56958	D	0.05	.	7.6259	0.28212	0.0:0.798:0.0:0.202	.	464	O75325	LRRN2_HUMAN	Q	464	ENSP00000356144:R464Q;ENSP00000356145:R464Q;ENSP00000356143:R464Q	ENSP00000356143:R464Q	R	-	2	0	0	LRRN2	202854353	202854353	0.999000	0.42202	0.996000	0.52242	0.318000	0.28184	1.920000	0.40025	2.604000	0.88044	0.591000	0.81541	CGA	0.177116		TCGA-IB-7649-01A-11D-2154-08	0.637	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	1		2	2	2	0		0	0	59		59	58	1	1.970000	-8.904589	1	0.160000	NM_006338			25	25		280	274	0		1	0		0	0	59	0		1.000000	8.714230e-02	0	0	0	6	0	25	280
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	291						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582																																						ENST00000378961.4	1.000000	0.530000	1.000000	0.730000	0.980000	0.897895	0.980000	1.000000																										0				47						c.(871-873)Gac>Aac		chromogranin B (secretogranin 1)							26.0	28.0	27.0					20																	5903661		2203	4300	6503	SO:0001583	missense	1114	1	121388	20				g.chr20:5903661G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.871G>A	chr20.hg19:g.5903661G>A	ENSP00000368244:p.Asp291Asn	0						p.D291N	NM_001819.2	NP_001810.2	0	0	0	1.938919	P05060	SCG1_HUMAN		4	1075	+			A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	1	1	hg19	c.871G>A	CCDS13092.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073615	0.36566	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02050	4.48;4.48	5.11	4.15	0.48705	5.110000	4.150000	0.487050	.	0.314175	0.28515	N	0.015066	T	0.02156	0.0067	L	0.46741	1.465	0.20307	N	0.999911	P	0.37997	0.614	B	0.34346	0.18	T	0.42816	-0.9429	10	0.12766	T	0.61	-27.4409	7.586	0.27993	0.0861:0.0:0.7505:0.1634	.	291	P05060	SCG1_HUMAN	N	291;271	ENSP00000368244:D291N;ENSP00000416643:D271N	ENSP00000368244:D291N	D	+	1	0	0	CHGB	5851661	5851661	0.928000	0.31464	0.965000	0.40720	0.653000	0.38743	2.775000	0.47702	1.114000	0.41781	0.563000	0.77884	GAC	0.127907		TCGA-IB-7649-01A-11D-2154-08	0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	1	0	1		2	2	2	0		0	0	30		30	30	1	1.970000	-16.414560	1	0.160000	NM_001819			11	11		121	117	0		1	0		0	0	30	0		0.998296	9.999987e-01	0	0	0	349	0	11	121
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	G	A	rs578196295		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000393041.3_Silent_p.G464G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.G582G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622																																						ENST00000316724.5	1.000000	0.640000	1.000000	0.760000	0.900000	0.890803	0.900000	1.000000																										1	Substitution - coding silent(1)	p.G582G(1)	lung(1)	24						c.(1744-1746)ggC>ggT		bridging integrator 1							95.0	91.0	92.0					2																	127806138		2203	4300	6503	SO:0001819	synonymous_variant	274	0	0					g.chr2:127806138G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1746C>T	chr2.hg19:g.127806138G>A		0					BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000393040.3_Silent_p.G471G	p.G582G	NM_139343.2	NP_647593.1	0	0	0	1.927603	O00499	BIN1_HUMAN		19	2157	-	Colorectal(110;0.0831)		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	1	1	hg19	c.1746C>T	CCDS2138.1	1																																																																																								0.122074		TCGA-IB-7649-01A-11D-2154-08	0.622	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	1	0	1		2	2	2	0		0	0	71		71	71	1	1.970000	-9.475977	1	0.160000	NM_139343			36	35		437	426	1		1	1		0	0	71	0		1.000000	9.529596e-01	0	9	0	54	0	36	437
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A	rs368720161		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000349077.4	+	7	588	c.485G>A	c.(484-486)cGc>cAc	p.R162H	COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000403096.3_Missense_Mutation_p.R136H	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	162	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637																																						ENST00000349077.4	1.000000	0.840000	1.000000	0.990000	0.990000	0.986899	0.990000	1.000000																										0				22						c.(484-486)cGc>cAc		collectin sub-family member 11		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44.0	45.0	45.0		485,476	3.4	0.1	2		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	COLEC11	NM_024027.3,NM_199235.1	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/272,159/269	3691377	1,13001	2203	4298	6501	SO:0001583	missense	78989	2	121398	34				g.chr2:3691377G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.485G>A	chr2.hg19:g.3691377G>A	ENSP00000339168:p.Arg162His	0					COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Missense_Mutation_p.R136H	p.R162H	NM_024027.4	NP_076932.1	0	0	0	1.914777	Q9BWP8	COL11_HUMAN		7	588	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	1	1	hg19	c.485G>A	CCDS1649.1	1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781246	0.31502	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.2	3.38	0.38709	5.200000	3.380000	0.387090	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.147737	0.56097	D	0.000035	T	0.27313	0.0670	L	0.45352	1.415	0.29046	N	0.884807	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.997;1.0;0.998;1.0;1.0;0.999	P;D;D;P;D;P;D;D;D	0.71184	0.866;0.949;0.972;0.823;0.972;0.828;0.949;0.956;0.92	T	0.06197	-1.0840	10	0.59425	D	0.04	-22.5104	5.7615	0.18203	0.1596:0.0:0.6835:0.157	.	88;112;112;136;114;138;138;162;159	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	H	138;159;162;176;136;112;88;112	ENSP00000371494:R138H;ENSP00000236693:R159H;ENSP00000339168:R162H;ENSP00000411770:R176H;ENSP00000385130:R136H;ENSP00000384882:R112H;ENSP00000385827:R88H;ENSP00000385653:R112H	ENSP00000236693:R159H	R	+	2	0	0	COLEC11	3669252	3669252	0.999000	0.42202	0.087000	0.20705	0.002000	0.02628	3.349000	0.52217	0.564000	0.29238	-0.518000	0.04402	CGC	0.116162		TCGA-IB-7649-01A-11D-2154-08	0.637	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	1	0	1		2	2	2	0		0	0	50		50	50	1	1.970000	-3.142702	1	0.160000	NM_024027			39	38		352	346	1		1	0		0	0	50	0		1.000000	9.761639e-01	0	0	0	56	0	39	352
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	350					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGGGAGGGGGCGGCCGCTACA	0.701																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3	1.000000	0.490000	1.000000	0.720000	0.990000	0.893676	0.990000	1.000000																										0				14						c.(1048-1050)ggC>ggT		potassium channel, subfamily K, member 3	Doxapram(DB00561)|Halothane(DB01159)						12.0	11.0	11.0					2																	26951301		2157	4232	6389	SO:0001819	synonymous_variant	3777	0	0					g.chr2:26951301C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1050C>T	chr2.hg19:g.26951301C>T		0						p.G350G	NM_002246.2	NP_002237.1	0	0	0	1.914777	O14649	KCNK3_HUMAN		2	1175	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		Q53SU2	Silent	SNP	ENST00000302909.3	0	1	hg19	c.1050C>T	CCDS1727.1	1																																																																																								0.116162		TCGA-IB-7649-01A-11D-2154-08	0.701	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	1		2	2	2	0		0	0	10		10	9	1	1.970000	-13.222780	1	0.160000	NM_002246			7	6		66	64	0		1	0		0	0	10	0		0.979498	0	0	0	0	1	0	7	66
TTN	7273	broad.mit.edu	37	2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T	rs371910831		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000591111.1	-	276	76948	c.76724G>A	c.(76723-76725)cGc>cAc	p.R25575H	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216H			Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368																																						ENST00000591111.1	1.000000	0.440000	1.000000	0.610000	0.820000	0.812194	0.820000	1.000000																										0				1448						c.(76723-76725)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3726		0,0,1863	70.0	66.0	67.0		54452,73943,54827,55028	6.2	1.0	2		67	1,8211		0,1,4105	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,5968	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	18151/26927,24648/33424,18276/27052,18343/27119	179429212	1,11937	1863	4106	5969	SO:0001583	missense	7273	5	120732	33				g.chr2:179429212C>T	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.76724G>A	chr2.hg19:g.179429212C>T	ENSP00000465570:p.Arg25575His	0					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.R25575H			0	0	0	1.933094	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	276	76948	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	0	1	hg19	c.76724G>A		0	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992185	0.54041	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	6.160000	6.160000	0.993070	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73768	0.3629	M	0.65975	2.015	0.80722	D	1	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	T	0.73209	-0.4055	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24648;18151;18343;18276;18149	ENSP00000343764:R24648H;ENSP00000434586:R18151H;ENSP00000340554:R18343H;ENSP00000352154:R18276H	ENSP00000340554:R18343H	R	-	2	0	0	TTN	179137458	179137458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGC	0.125000		TCGA-IB-7649-01A-11D-2154-08	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1		2	2	2	0		0	0	22		22	22	1	1.970000	-5.609446	1	0.160000	NM_133378			11	11		148	147	0		1			0	0	22	0		0.998469	0	0	0	0	0	0	11	148
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	462					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438																																						ENST00000356763.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				77						c.(1384-1386)tAc>tTc		phosphoinositide-3-kinase, regulatory subunit 4							82.0	77.0	78.0					3																	130452457		2203	4300	6503	SO:0001583	missense	30849	0	0					g.chr3:130452457T>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1385A>T	chr3.hg19:g.130452457T>A	ENSP00000349205:p.Tyr462Phe	0						p.Y462F	NM_014602.2	NP_055417.1	1	2	3	2.038215	Q99570	PI3R4_HUMAN		4	1942	-			Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	1	1	hg19	c.1385A>T	CCDS3067.1	1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042519	0.93685	.	.	ENSG00000196455	ENST00000356763	T	0.48836	0.8	6.07	6.07	0.98685	6.070000	6.070000	0.986850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72564	-0.4255	10	0.54805	T	0.06	-22.6507	16.6288	0.85011	0.0:0.0:0.0:1.0	.	462	Q99570	PI3R4_HUMAN	F	462	ENSP00000349205:Y462F	ENSP00000349205:Y462F	Y	-	2	0	0	PIK3R4	131935147	131935147	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TAC	0.186677		TCGA-IB-7649-01A-11D-2154-08	0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1		2	2	2	0		0	0	85		85	84	1	1.970000	-20.000000	1	0.160000	NM_014602			73	73		494	490	1		1	0		0	0	85	0		1.000000	3.791292e-01	0	1	0	9	0	73	494
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473																																						ENST00000282466.3	1.000000	0.630000	1.000000	0.750000	0.910000	0.892483	0.910000	1.000000																										1	Substitution - Missense(1)	p.R1021Q(1)	large_intestine(1)	116						c.(3061-3063)cGg>cAg		immunoglobulin superfamily, member 10		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		3062	3.6	0.0	3	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1021/2624	151164707	2,13004	2203	4300	6503	SO:0001583	missense	285313	4	121412	40				g.chr3:151164707C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3062G>A	chr3.hg19:g.151164707C>T	ENSP00000282466:p.Arg1021Gln	0						p.R1021Q	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	1	2	3	2.038215	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)	4	3061	-			Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	1	1	hg19	c.3062G>A	CCDS3160.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358254	0.41801	2.27E-4	1.16E-4	ENSG00000152580	ENST00000282466	T	0.75704	-0.96	5.46	3.6	0.41247	5.460000	3.600000	0.412470	.	0.000000	0.42821	D	0.000651	T	0.56558	0.1993	L	0.36672	1.1	0.09310	N	1	P	0.41159	0.74	B	0.26969	0.075	T	0.53063	-0.8491	10	0.66056	D	0.02	.	8.8832	0.35387	0.0:0.7369:0.1239:0.1392	rs35114212	1021	Q6WRI0	IGS10_HUMAN	Q	1021	ENSP00000282466:R1021Q	ENSP00000282466:R1021Q	R	-	2	0	0	IGSF10	152647397	152647397	0.822000	0.29219	0.014000	0.15608	0.012000	0.07955	2.017000	0.40981	0.623000	0.30267	0.591000	0.81541	CGG	0.186677		TCGA-IB-7649-01A-11D-2154-08	0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1		2	2	2	0		0	0	76		76	76	1	1.970000	-2.665581	1	0.160000	NM_178822			39	39		546	534	0		1			0	0	76	0		1.000000	0	0	0	0	0	0	39	546
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	56	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V56L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333																																						ENST00000325599.8	1.000000	0.550000	1.000000	0.710000	0.920000	0.879313	0.920000	1.000000																										1	Substitution - Missense(1)	p.V56L(1)	prostate(1)	27						c.(166-168)Gta>Ata		SHQ1, H/ACA ribonucleoprotein assembly factor							109.0	103.0	105.0					3																	72893552		2203	4300	6503	SO:0001583	missense	55164	0	0					g.chr3:72893552C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.166G>A	chr3.hg19:g.72893552C>T	ENSP00000315182:p.Val56Ile	0					SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	p.V56I	NM_018130.2	NP_060600.2	1	2	3	2.038215	Q6PI26	SHQ1_HUMAN		2	305	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	1	1	hg19	c.166G>A	CCDS33788.1	1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576734	0.45902	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.35605	1.57;1.3	5.95	3.11	0.35812	5.950000	3.110000	0.358120	CS-like domain (1);HSP20-like chaperone (1);	0.249859	0.39615	N	0.001319	T	0.24967	0.0606	L	0.52266	1.64	0.37946	D	0.932497	P	0.39391	0.671	B	0.32393	0.145	T	0.10520	-1.0626	10	0.34782	T	0.22	-8.7063	6.2311	0.20736	0.1324:0.6529:0.0:0.2147	.	56	Q6PI26	SHQ1_HUMAN	I	56;28	ENSP00000315182:V56I;ENSP00000417452:V28I	ENSP00000315182:V56I	V	-	1	0	0	SHQ1	72976242	72976242	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	1.181000	0.32017	0.849000	0.35215	0.655000	0.94253	GTA	0.186677		TCGA-IB-7649-01A-11D-2154-08	0.333	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	1	0	1		2	2	2	0		0	0	38		38	38	1	1.970000	-3.221845	1	0.160000	NM_018130			20	20		285	283	0		1	0		0	0	38	0		0.999996	1.243752e-01	0	1	0	8	0	20	285
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	274					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388																																						ENST00000264381.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				55						c.(820-822)Tta>Gta		butyrylcholinesterase	Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)						97.0	102.0	100.0					3																	165548002		2203	4299	6502	SO:0001583	missense	590	0	0					g.chr3:165548002A>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.820T>G	chr3.hg19:g.165548002A>C	ENSP00000264381:p.Leu274Val	0					BCHE_ENST00000540653.1_Intron	p.L274V	NM_000055.2	NP_000046.1	1	2	3	2.038215	P06276	CHLE_HUMAN		2	986	-			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	1	1	hg19	c.820T>G	CCDS3198.1	1	.	.	.	.	.	.	.	.	.	.	A	8.722	0.914687	0.17907	.	.	ENSG00000114200	ENST00000264381	T	0.71341	-0.56	5.62	3.23	0.37069	5.620000	3.230000	0.370690	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.78104	0.4231	M	0.68317	2.08	0.80722	D	1	P	0.40211	0.707	P	0.55785	0.784	T	0.76774	-0.2835	10	0.87932	D	0	.	9.2194	0.37366	0.8528:0.0:0.1472:0.0	.	274	P06276	CHLE_HUMAN	V	274	ENSP00000264381:L274V	ENSP00000264381:L274V	L	-	1	2	2	BCHE	167030696	167030696	0.408000	0.25360	0.251000	0.24312	0.017000	0.09413	1.019000	0.30014	0.419000	0.25927	0.533000	0.62120	TTA	0.186677		TCGA-IB-7649-01A-11D-2154-08	0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1		2	2	2	0		0	0	84		84	83	1	1.970000	-20.000000	1	0.160000				89	89		612	604	1		1	0		0	0	84	0		1.000000	2.232164e-01	0	0	0	7	0	89	612
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	rs138173652	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786	Necessary and sufficient for interaction with MPDZ. {ECO:0000250}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		17908	0.0		0.002	False		,,,				2504	0.0					ENST00000394329.3	1.000000	0.840000	1.000000	0.990000	0.990000	0.986850	0.990000	1.000000																										0				355						c.(14356-14358)Gga>Aga		FAT atypical cadherin 4		G	ARG/GLY	0,4406		0,0,2203	54.0	57.0	56.0		14356	4.9	0.1	4	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4786/4982	126412333	1,13005	2203	4300	6503	SO:0001583	missense	79633	11	121412	43				g.chr4:126412333G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14356G>A	chr4.hg19:g.126412333G>A	ENSP00000377862:p.Gly4786Arg	0					FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	p.G4786R	NM_024582.4	NP_078858.4	1	2	3	2.051849	Q6V0I7	FAT4_HUMAN		17	14369	+			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	1	1	hg19	c.14356G>A	CCDS3732.3	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.72	2.620909	0.46736	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89746	-2.36;-2.56	4.87	4.87	0.63330	4.870000	4.870000	0.633300	.	0.000000	0.33959	U	0.004384	D	0.94125	0.8116	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94900	0.8055	10	0.87932	D	0	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3027;4786;4785	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4786;3027	ENSP00000377862:G4786R;ENSP00000335169:G3027R	ENSP00000335169:G3027R	G	+	1	0	0	FAT4	126631783	126631783	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	9.135000	0.94478	2.253000	0.74438	0.491000	0.48974	GGA	0.175824		TCGA-IB-7649-01A-11D-2154-08	0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	1		2	2	2	0		0	0	54		54	52	1	1.970000	-2.920853	1	0.160000	NM_024582			44	43		453	448	0		1	0		0	0	54	0		1.000000	1.920816e-01	0	0	0	9	0	44	453
PCDHGA2	56113	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682																																						ENST00000394576.2	1.000000	0.360000	1.000000	0.450000	0.560000	0.630359	0.560000	0.520000																										2	Substitution - coding silent(2)	p.T628T(2)	prostate(2)	77						c.(1882-1884)acG>acA		protocadherin gamma subfamily A, 2							35.0	42.0	40.0					5																	140720422		2198	4289	6487	SO:0001819	synonymous_variant	56113	0	0					g.chr5:140720422G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1884G>A	chr5.hg19:g.140720422G>A		0					PCDHGA1_ENST00000517417.1_Intron	p.T628T	NM_018915.2	NP_061738.1	1	2	3	2.039295	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1884	+			Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	1	1	hg19	c.1884G>A	CCDS47289.1	0																																																																																								0.177116		TCGA-IB-7649-01A-11D-2154-08	0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	0	1		2	2	2	0		0	0	116		116	126	1	1.970000	-3.296154	1	0.160000	NM_018915			25	20		575	471	0		1			0	0	116	0		0.999998	0	0	0	0	0	0	25	575
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562																																						ENST00000607124.1	1.000000	0.560000	0.860000	0.640000	0.720000	0.753428	0.720000	0.720000																										0				10						c.(193-195)tCg>tTg		histone cluster 1, H2bj							179.0	170.0	173.0					6																	27100336		2203	4300	6503	SO:0001583	missense	8970	0	0					g.chr6:27100336G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.194C>T	chr6.hg19:g.27100336G>A	ENSP00000476136:p.Ser65Leu	0					HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2AG_ENST00000359193.2_5'Flank	p.S65L			1	2	3	2.021212	P06899	H2B1J_HUMAN		1	193	-			B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	1	1	hg19	c.194C>T	CCDS4618.1	0	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294289	0.60086	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70986	-0.53;-0.53	4.17	4.17	0.49024	4.170000	4.170000	0.490240	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85535	0.5719	M	0.93197	3.39	0.53005	D	0.999962	D	0.89917	1.0	D	0.78314	0.991	D	0.89287	0.3616	9	0.87932	D	0	.	14.8046	0.69942	0.0:0.0:1.0:0.0	.	65	P06899	H2B1J_HUMAN	L	65	ENSP00000445633:S65L;ENSP00000342886:S65L	ENSP00000342886:S65L	S	-	2	0	0	HIST1H2BJ	27208315	27208315	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	5.831000	0.69330	2.273000	0.75805	0.591000	0.81541	TCG	0.168646		TCGA-IB-7649-01A-11D-2154-08	0.562	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	1	0	1		2	2	2	0		0	0	182		182	181	1	1.970000	-8.511138	1	0.160000	NM_021058			67	67		1111	1100	0		1	0		0	0	182	0		1.000000	0	0	0	0	1	0	67	1111
HTR1B	3351	broad.mit.edu	37	6	78172557	78172557	+	Silent	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	188					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587																																						ENST00000369947.2	1.000000	0.390000	1.000000	0.500000	0.650000	0.704789	0.650000	0.580000																										0				25						c.(562-564)cgT>cgG		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						67.0	73.0	71.0					6																	78172557		2203	4300	6503	SO:0001819	synonymous_variant	3351	0	0					g.chr6:78172557A>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.564T>G	chr6.hg19:g.78172557A>C		0						p.R188R	NM_000863.1	NP_000854.1	1	2	3	2.025882	P28222	5HT1B_HUMAN		1	933	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	Q4VAY7	Silent	SNP	ENST00000369947.2	0	1	hg19	c.564T>G	CCDS4986.1	0																																																																																								0.190439		TCGA-IB-7649-01A-11D-2154-08	0.587	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	1	0	1		2	2	2	0		0	0	71		71	70	1	1.970000	-19.997290	1	0.160000	NM_000863			22	22		460	449	0		1	0		0	0	71	0		0.999999	8.051690e-02	0	0	0	10	0	22	460
WDR91	29062	broad.mit.edu	37	7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000354475.4	-	9	1301	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR91_ENST00000344400.5_Missense_Mutation_p.A424T|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T|WDR91_ENST00000485942.1_5'Flank	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	424										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTAAGCTGGCGACTCTCCTC	0.527																																						ENST00000354475.4	1.000000	0.260000	0.980000	0.400000	0.600000	0.642095	0.600000	1.000000																										0				40						c.(1270-1272)Gcc>Acc		WD repeat domain 91							105.0	79.0	88.0					7																	134879811		2203	4300	6503	SO:0001583	missense	29062	0	0					g.chr7:134879811C>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1270G>A	chr7.hg19:g.134879811C>T	ENSP00000346466:p.Ala424Thr	0					WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T|WDR91_ENST00000344400.5_Missense_Mutation_p.A424T	p.A424T	NM_014149.3	NP_054868.3	1	2	3	2.035648	A4D1P6	WDR91_HUMAN		9	1301	-			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	0	1	hg19	c.1270G>A	CCDS34758.1	0	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005501	0.93287	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.38240	1.15;4.49;4.49	5.28	5.28	0.74379	5.280000	5.280000	0.743790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.72766	-0.4194	10	0.66056	D	0.02	-21.2761	18.5117	0.90918	0.0:1.0:0.0:0.0	.	424	A4D1P6	WDR91_HUMAN	T	424;424;389	ENSP00000340877:A424T;ENSP00000346466:A424T;ENSP00000392555:A389T	ENSP00000340877:A424T	A	-	1	0	0	WDR91	134530351	134530351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.737000	0.68606	2.470000	0.83445	0.555000	0.69702	GCC	0.169960		TCGA-IB-7649-01A-11D-2154-08	0.527	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	0	0	0		2	2	2	0		0	0	28		28	28	1	1.970000	-9.623020	1	0.160000	NM_014149			7	7		155	153	0		1	0		0	0	28	0		0.980479	1.518870e-01	0	0	0	14	0	7	155
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	474					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388									Neonatal Giant Cell Hepatitis																													ENST00000301645.3	1.000000	0.910000	1.000000	0.990000	0.990000	0.994819	0.990000	1.000000																										0				34						c.(1420-1422)Gct>Cct		cytochrome P450, family 7, subfamily A, polypeptide 1							51.0	52.0	52.0					8																	59404129		2203	4300	6503	SO:0001583	missense	1581	0	0		Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	g.chr8:59404129C>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1420G>C	chr8.hg19:g.59404129C>G	ENSP00000301645:p.Ala474Pro	0						p.A474P	NM_000780.3	NP_000771.2	1	2	3	2.097770	P22680	CP7A1_HUMAN		6	1557	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	1	1	hg19	c.1420G>C	CCDS6171.1	1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.089000	0.07097	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.87	2.84	0.33178	5.870000	2.840000	0.331780	.	0.680316	0.16054	N	0.231815	T	0.44993	0.1320	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.29301	T	0.29	-4.2366	4.4174	0.11463	0.1293:0.6122:0.1248:0.1336	.	474	P22680	CP7A1_HUMAN	P	474	ENSP00000301645:A474P	ENSP00000301645:A474P	A	-	1	0	0	CYP7A1	59566683	59566683	0.028000	0.19301	0.004000	0.12327	0.042000	0.13812	1.296000	0.33389	0.877000	0.35895	0.655000	0.94253	GCT	0.182243		TCGA-IB-7649-01A-11D-2154-08	0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	1	0	1		2	2	2	0		0	0	52		52	51	1	1.970000	-20.000000	1	0.160000	NM_000780			42	40		401	396	0		1	0		0	0	52	0		1.000000	9.447907e-03	0	0	0	2	0	42	401
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000260130.4	+	6	562	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000523483.1_Missense_Mutation_p.V158F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	138	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378																																						ENST00000260130.4	1.000000	0.930000	1.000000	0.990000	0.990000	0.996214	0.990000	1.000000																										0				8						c.(412-414)Gtt>Ttt		syndecan binding protein (syntenin)							75.0	75.0	75.0					8																	59490601		2203	4300	6503	SO:0001583	missense	6386	0	0					g.chr8:59490601G>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.412G>T	chr8.hg19:g.59490601G>T	ENSP00000260130:p.Val138Phe	0					SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000523483.1_Missense_Mutation_p.V158F	p.V138F	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	1	2	3	2.097770	O00560	SDCB1_HUMAN		6	562	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	1	1	hg19	c.412G>T	CCDS6172.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433603	0.83776	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000447267	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;0.27;0.74	5.66	4.79	0.61399	5.660000	4.790000	0.613990	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	D	0.95466	0.8547	9	.	.	.	-24.174	14.8863	0.70572	0.069:0.0:0.931:0.0	.	158;132;138	G5EA09;O00560-3;O00560	.;.;SDCB1_HUMAN	F	138;137;137;138;132;158;84	ENSP00000260130:V138F;ENSP00000391687:V137F;ENSP00000409288:V137F;ENSP00000411771:V138F;ENSP00000395351:V132F;ENSP00000428184:V158F;ENSP00000397820:V84F	.	V	+	1	0	0	SDCBP	59653155	59653155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	1.535000	0.49220	0.655000	0.94253	GTT	0.182243		TCGA-IB-7649-01A-11D-2154-08	0.378	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	1	0	1		2	2	2	0		0	0	62		62	62	1	1.970000	-20.000000	1	0.160000	NM_005625			41	41		380	377	1		1	1		0	0	62	0		1.000000	1	0	46	0	415	0	41	380
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602																																						ENST00000381095.3	1.000000	0.680000	1.000000	0.830000	0.990000	0.938944	0.990000	1.000000																										0				81						c.(1306-1308)Cgg>Tgg		neuroligin 4, X-linked							18.0	20.0	20.0					X																	5821413		2199	4292	6491	SO:0001583	missense	57502	1	121292	20				g.chrX:5821413G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1306C>T	chrX.hg19:g.5821413G>A	ENSP00000370485:p.Arg436Trp						NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W	p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	0	1	1		Q8N0W4	NLGNX_HUMAN		5	1933	-			Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	1	1	hg19	c.1306C>T	CCDS14126.1	1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958125	0.18507	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.93	3.05	0.35203	3.930000	3.050000	0.352030	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.35192	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.0511	0.47889	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	2	NLGN4X	5831413	5831413	0.988000	0.35896	0.002000	0.10522	0.003000	0.03518	2.082000	0.41605	0.507000	0.28148	-0.222000	0.12452	CGG	0.160000		TCGA-IB-7649-01A-11D-2154-08	0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	1	0	1		2	2	2	0		0	0	50		50	62	1	1.970000	-20.000000	1	0.160000	NM_020742			27	26		307	291	0		1			0	0	50	0		1.000000	0	0	0	0	0	0	27	307
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	230					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3	1.000000	0.600000	1.000000	0.810000	0.990000	0.934336	0.990000	1.000000																										0				48						c.(688-690)Cga>Tga		RNA binding motif protein 10							87.0	62.0	71.0					X																	47038526		2203	4300	6503	SO:0001587	stop_gained	8241	0	0					g.chrX:47038526C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.688C>T	chrX.hg19:g.47038526C>T	ENSP00000366829:p.Arg230*						RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*	p.R230*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	0	1	1		P98175	RBM10_HUMAN		8	1430	+			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	0	1	hg19	c.688C>T	CCDS14274.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.367802	0.98779	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.16	5.16	0.70880	5.160000	5.160000	0.708800	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	10.5381	0.45016	0.1929:0.8071:0.0:0.0	.	.	.	.	X	230;153;153	.	ENSP00000328848:R153X	R	+	1	2	2	RBM10	46923470	46923470	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	2.893000	0.48633	2.286000	0.76751	0.436000	0.28706	CGA	0.160000		TCGA-IB-7649-01A-11D-2154-08	0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	1	0	1		2	2	2	0		0	0	18		18	18	1	1.970000	-3.318873	1	0.160000	NM_005676			12	11		127	123	0		1	0	1	0	0	18	798		0.999067	8.447513e-01	1	0	64	38	580	12	127
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	303							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433																																						ENST00000338957.4	1.000000	0.790000	1.000000	0.910000	0.990000	0.970509	0.990000	1.000000																										0				29						c.(907-909)gAc>gTc		zinc finger CCCH-type containing 12B							102.0	93.0	96.0					X																	64719038		1886	4099	5985	SO:0001583	missense	340554	0	0					g.chrX:64719038A>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.908A>T	chrX.hg19:g.64719038A>T	ENSP00000340839:p.Asp303Val						ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	p.D303V	NM_001010888.3	NP_001010888.3	0	1	1		Q5HYM0	ZC12B_HUMAN		3	975	+			B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	1	1	hg19	c.908A>T	CCDS48131.2	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147401	0.77888	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.60171	0.21;0.21	5.19	5.19	0.71726	5.190000	5.190000	0.717260	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87653	0.2529	10	0.72032	D	0.01	-0.502	12.9175	0.58214	1.0:0.0:0.0:0.0	.	292	Q5HYM0	ZC12B_HUMAN	V	303;292;239	ENSP00000340839:D303V;ENSP00000408077:D292V	ENSP00000218172:D239V	D	+	2	0	0	ZC3H12B	64635763	64635763	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	1.731000	0.51592	0.417000	0.27973	GAC	0.160000		TCGA-IB-7649-01A-11D-2154-08	0.433	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	0	1		2	2	2	0		0	0	74		74	74	1	1.970000	-13.316650	1	0.160000	XM_293334			50	50		542	534	0		1	0		0	0	74	0		1.000000	6.219352e-02	0	0	0	5	0	50	542
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000358741.3	+	2	584	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000374051.3_Missense_Mutation_p.S94L|NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	94					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000358741.3	1.000000	0.700000	1.000000	0.850000	0.990000	0.949278	0.990000	1.000000																										0				37						c.(280-282)tCg>tTg		neuroligin 3							65.0	49.0	55.0					X																	70367880		2203	4300	6503	SO:0001583	missense	54413	0	0					g.chrX:70367880C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.281C>T	chrX.hg19:g.70367880C>T	ENSP00000351591:p.Ser94Leu						NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L|NLGN3_ENST00000374051.3_Missense_Mutation_p.S94L	p.S94L	NM_181303.1	NP_851820.1	0	1	1		Q9NZ94	NLGN3_HUMAN		2	584	+	Renal(35;0.156)		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	1	1	hg19	c.281C>T	CCDS55441.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609855	0.46527	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.41	4.41	0.53225	4.410000	4.410000	0.532250	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.70108	2.13	0.51767	D	0.999932	P;P;P	0.49358	0.546;0.923;0.756	B;B;B	0.40066	0.159;0.318;0.216	T	0.68720	-0.5334	10	0.66056	D	0.02	.	16.4169	0.83745	0.0:1.0:0.0:0.0	.	94;94;94	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	L	94	ENSP00000445298:S94L;ENSP00000363163:S94L;ENSP00000379196:S94L;ENSP00000351591:S94L	ENSP00000351591:S94L	S	+	2	0	0	NLGN3	70284605	70284605	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.320000	0.79064	2.044000	0.60594	0.436000	0.28706	TCG	0.160000		TCGA-IB-7649-01A-11D-2154-08	0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	1	0	1		2	2	2	0		0	0	53		53	51	1	1.970000	-20.000000	1	0.160000	NM_018977			28	27		310	303	0		1	0		0	0	53	0		1.000000	7.503881e-03	0	0	0	2	0	28	310
