#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	21971063	21971068	+	In_Frame_Del	DEL	GGTGCA	GGTGCA	-	rs34886500		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			GGTGCA	-	GGTGCA	GGTGCA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:21971063_21971068delGGTGCA	ENST00000304494.5	-	2	560_565	c.290_295delTGCACC	c.(289-297)ctgcaccgg>cgg	p.LH97del	CDKN2A_ENST00000446177.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.AP112del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.AP112del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.AP153del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LH46del|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	97			L -> R (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(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)		GCCCCGGCCCGGTGCAGCACCACCAG	0.748		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	1.000000	0.870000	1.000000	0.970000	0.990000	0.986910	0.990000	1.000000		17																								1385	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(5)|Substitution - coding silent(2)|Deletion - In frame(1)	p.0?(1315)|p.?(44)|p.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(1)	haematopoietic_and_lymphoid_tissue(284)|skin(181)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(55)|oesophagus(52)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	4199	GRCh37	CM045408|CM056555|CM980329	CDKN2A	M	rs34886500	c.(289-297)ctgcaccgg>cgg		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029	0	0					g.chr9:21971063_21971068delGGTGCA	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.290_295delTGCACC	chr9.hg19:g.21971063_21971068delGGTGCA	ENSP00000307101:p.Leu97_His98del	1	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_In_Frame_Del_p.AP112del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.AP112del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.AP153del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LH97del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_In_Frame_Del_p.LH46del	p.LH97del	NM_000077.4	NP_000068.1	0	2	2	1.520844	P42771	CD2A1_HUMAN		2	560_565	-		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	In_Frame_Del	DEL	ENST00000304494.5	1	1	hg19	c.290_295delTGCACC	CCDS6510.1	1																																																																																								0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.748	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	1		2	2	2	0	0	0	0	26	0	26	23	1	3.130000	-6.194341	1	0.530000	NM_000077		0	67	72	0	166	169	0	0	1	0	1	0	0	26	143	0	1.000000	9.976177e-01	1	0	65	26	140	67	166
PCDH15	65217	broad.mit.edu	37	10	55616938	55616938	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr10:55616938G>T	ENST00000320301.6	-	28	4197	c.3803C>A	c.(3802-3804)aCa>aAa	p.T1268K	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000373965.2_Missense_Mutation_p.T1275K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1268					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATTACTCTGTAAGATCTTC	0.313										HNSCC(58;0.16)																												ENST00000320301.6	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				237						c.(3802-3804)aCa>aAa		protocadherin-related 15							56.0	56.0	56.0					10																	55616938		2203	4297	6500	SO:0001583	missense	65217	0	0					g.chr10:55616938G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3803C>A	chr10.hg19:g.55616938G>T	ENSP00000322604:p.Thr1268Lys	1	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000373965.2_Missense_Mutation_p.T1275K|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K	p.T1268K	NM_033056.3	NP_149045.3	0	2	2	1.605404	Q96QU1	PCD15_HUMAN		28	4197	-		Melanoma(3;0.117)|Lung SC(717;0.238)	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	1	1	hg19	c.3803C>A	CCDS7248.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210653	0.79240	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.5;0.55;0.49;0.48;0.46;0.44;0.42;0.46;0.44;0.42;0.41	5.17	4.26	0.50523	5.17	4.26	0.50523	.	.	.	.	.	T	0.42108	0.1188	N	0.14661	0.345	0.33977	D	0.647511	D;D;D;P;D;D;D;P;P;P;P;P;D	0.54397	0.966;0.959;0.959;0.932;0.958;0.959;0.966;0.59;0.926;0.926;0.814;0.729;0.959	P;P;B;B;P;P;P;B;B;B;B;B;B	0.53035	0.716;0.544;0.424;0.326;0.69;0.544;0.716;0.315;0.424;0.424;0.315;0.315;0.424	T	0.51505	-0.8697	9	0.42905	T	0.14	.	5.2011	0.15264	0.2905:0.0:0.7095:0.0	.	1246;1268;1268;1273;1197;1231;1268;1268;1275;1275;1268;1273;1268	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1275;1273;1268;1268;879;1275;1231;1268;1246;1268;1268;1273;1197	ENSP00000363076:T1275K;ENSP00000410304:T1273K;ENSP00000378826:T1268K;ENSP00000386693:T879K;ENSP00000378832:T1275K;ENSP00000378820:T1231K;ENSP00000354950:T1268K;ENSP00000378821:T1246K;ENSP00000322604:T1268K;ENSP00000378818:T1268K;ENSP00000412628:T1197K	ENSP00000322604:T1268K	T	-	2	0	0	PCDH15	55286944	55286944	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.204000	0.77872	2.418000	0.82041	0.655000	0.94253	ACA	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	1	0	1	2	2	2	2	0	0	0	0	30	30	30	29	1	3.130000	-19.999940	1	0.530000	NM_033056		0	95	95	0	92	92	1		1			0	0	30	0	0	1.000000	0	0	0	0	0	0	95	92
QSER1	79832	broad.mit.edu	37	11	32955744	32955744	+	Silent	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:32955744A>G	ENST00000399302.2	+	4	2888	c.2553A>G	c.(2551-2553)gtA>gtG	p.V851V	QSER1_ENST00000527788.1_Silent_p.V612V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	851										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TATCAAATGTAGATGATATCT	0.383																																						ENST00000399302.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				48						c.(2551-2553)gtA>gtG		glutamine and serine rich 1							96.0	93.0	94.0					11																	32955744		1887	4099	5986	SO:0001819	synonymous_variant	79832	0	0					g.chr11:32955744A>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2553A>G	chr11.hg19:g.32955744A>G		1					QSER1_ENST00000527788.1_Silent_p.V612V	p.V851V	NM_001076786.1	NP_001070254.1	2	4	6	3.214197	Q2KHR3	QSER1_HUMAN		4	2888	+	Breast(20;0.158)		Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	1	1	hg19	c.2553A>G	CCDS41631.1	1																																																																																								0.771845		TCGA-FB-A545-01A-11D-A26I-08	0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	1	0	1	2	2	2	2	0	0	0	0	57	57	57	57	1	3.130000	-20.000000	1	0.530000	NM_024774		0	426	425	0	443	436	1		1	1		0	0	57	0	0	1.000000	7.993490e-01	0	2	0	3	0	426	443
CD44	960	broad.mit.edu	37	11	35218359	35218359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:35218359T>G	ENST00000428726.2	+	6	857	c.734T>G	c.(733-735)tTt>tGt	p.F245C	CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C|CD44_ENST00000437706.2_Missense_Mutation_p.F245C|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	245	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TGGGATTGGTTTTCATGGTTG	0.378																																						ENST00000428726.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				23						c.(733-735)tTt>tGt		CD44 molecule (Indian blood group)	Hyaluronan(DB08818)						121.0	104.0	110.0					11																	35218359		2202	4298	6500	SO:0001583	missense	960	0	0					g.chr11:35218359T>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.734T>G	chr11.hg19:g.35218359T>G	ENSP00000398632:p.Phe245Cys	1					CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C|CD44_ENST00000434472.2_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.F245C|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000278386.6_Intron	p.F245C	NM_000610.3	NP_000601.3	2	4	6	3.214197	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)	6	857	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	1	1	hg19	c.734T>G	CCDS7897.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.039051|2.039051	0.35989|0.35989	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726|ENST00000525685	T;T;T;T|T	0.18502|0.20463	2.34;2.21;2.33;2.41|2.07	5.04|5.04	5.04|5.04	0.67666|0.67666	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.497457|0.497457	0.17058|0.17058	N|N	0.188655|0.188655	T|T	0.22475|0.22475	0.0542|0.0542	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	P|.	0.52710|.	0.707|.	T|T	0.02950|0.02950	-1.1090|-1.1090	10|8	0.35671|0.34782	T|T	0.21|0.22	-0.253|-0.253	11.1936|11.1936	0.48700|0.48700	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	245|.	P16070|.	CD44_HUMAN|.	C|V	245|113	ENSP00000414567:F245C;ENSP00000391008:F245C;ENSP00000403990:F245C;ENSP00000398632:F245C|ENSP00000436623:F113V	ENSP00000398632:F245C|ENSP00000436623:F113V	F|F	+|+	2|1	0|0	0|0	CD44|CD44	35174935|35174935	35174935|35174935	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.132000|0.132000	0.20833|0.20833	3.427000|3.427000	0.52785|0.52785	1.873000|1.873000	0.54277|0.54277	0.533000|0.533000	0.62120|0.62120	TTT|TTT	0.771845		TCGA-FB-A545-01A-11D-A26I-08	0.378	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	1	0	1	2	2	2	2	0	0	0	0	23	23	23	23	1	3.130000	-20.000000	1	0.530000	NM_000610		0	84	83	0	227	223	1		1	1		0	0	23	0	0	1.000000	1	0	51	0	31	0	84	227
KCNA6	3742	broad.mit.edu	37	12	4920057	4920057	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:4920057G>A	ENST00000280684.3	+	1	1716	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.A284T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	284					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCGCTTCTCCGCCTGCCCTAG	0.542										HNSCC(72;0.22)																												ENST00000280684.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				49						c.(850-852)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 6	Dalfampridine(DB06637)						90.0	84.0	86.0					12																	4920057		2203	4300	6503	SO:0001583	missense	3742	0	0					g.chr12:4920057G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.850G>A	chr12.hg19:g.4920057G>A	ENSP00000280684:p.Ala284Thr	1	HNSCC(72;0.22)				RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.A284T	p.A284T			2	5	7	2.133899	P17658	KCNA6_HUMAN		1	1716	+				Missense_Mutation	SNP	ENST00000280684.3	1	1	hg19	c.850G>A	CCDS8534.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102426	0.76983	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.99023	-5.34;-5.34	5.28	5.28	0.74379	5.28	5.28	0.74379	Ion transport (1);	0.108992	0.64402	D	0.000010	D	0.96756	0.8941	N	0.21142	0.635	0.53688	D	0.999972	P	0.47910	0.902	B	0.43155	0.41	D	0.96581	0.9430	10	0.56958	D	0.05	.	13.4363	0.61086	0.0772:0.0:0.9228:0.0	.	284	P17658	KCNA6_HUMAN	T	284	ENSP00000408321:A284T;ENSP00000280684:A284T	ENSP00000280684:A284T	A	+	1	0	0	KCNA6	4790318	4790318	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.736000	0.84948	2.746000	0.94184	0.655000	0.94253	GCC	0.663685		TCGA-FB-A545-01A-11D-A26I-08	0.542	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	1	0	1	2	2	2	2	0	0	0	0	92	92	92	91	1	3.130000	-20.000000	1	0.530000	NM_002235		0	258	257	0	381	381	1		1			0	0	92	0	0	1.000000	0	0	0	0	0	0	258	381
SOX5	6660	broad.mit.edu	37	12	24048945	24048945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:24048945G>A	ENST00000451604.2	-	2	153	c.52C>T	c.(52-54)Cga>Tga	p.R18*	SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*|SOX5_ENST00000546136.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	18					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCGCTTGGAAGAC	0.493																																						ENST00000451604.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				57						c.(52-54)Cga>Tga		SRY (sex determining region Y)-box 5							119.0	116.0	117.0					12																	24048945		2203	4300	6503	SO:0001587	stop_gained	6660	0	0					g.chr12:24048945G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.52C>T	chr12.hg19:g.24048945G>A	ENSP00000398273:p.Arg18*	1					SOX5_ENST00000546136.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*	p.R18*			2	6	8	2.179788	P35711	SOX5_HUMAN		2	153	-			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Nonsense_Mutation	SNP	ENST00000451604.2	0	1	hg19	c.52C>T	CCDS8699.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.211190	0.98706	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	.	.	.	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	X	5;5;5;18;5;18;5;8;8;18;5	.	ENSP00000308927:R5X	R	-	1	2	2	SOX5	23940212	23940212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	2.792000	0.96026	0.557000	0.71058	CGA	0.671168		TCGA-FB-A545-01A-11D-A26I-08	0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	1	0	1	2	2	2	2	0	0	0	0	93	93	93	93	1	3.130000	-20.000000	1	0.530000	NM_006940		0	385	381	0	452	450	0		1			0	0	93	0	0	1.000000	0	0	0	0	0	0	385	452
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	2	6	8	2.179788	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.671168		TCGA-FB-A545-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	13	13	13	13	1	3.130000	-20.000000	1	0.530000	NM_033360		3587	38	37	4415	67	66	1	1	1	1	1	0	0	13	271	1	1.000000	8.861739e-01	1	7	103	2	193	38	67
TMEM132D	121256	broad.mit.edu	37	12	130184677	130184677	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:130184677C>T	ENST00000422113.2	-	2	972	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCTGGTCCACGGACTTCCTC	0.692																																						ENST00000422113.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				152						c.(646-648)Gtg>Atg		transmembrane protein 132D							33.0	36.0	35.0					12																	130184677		2203	4300	6503	SO:0001583	missense	121256	3	121410	33				g.chr12:130184677C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.646G>A	chr12.hg19:g.130184677C>T	ENSP00000408581:p.Val216Met	1					RP11-174M13.2_ENST00000544036.1_lincRNA	p.V216M	NM_133448.2	NP_597705.2	1	3	4	2.098671	Q14C87	T132D_HUMAN		2	972	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	1	1	hg19	c.646G>A	CCDS9266.1	1	.	.	.	.	.	.	.	.	.	.	C	3.487	-0.104728	0.06967	.	.	ENSG00000151952	ENST00000422113	T	0.12039	2.72	5.35	-1.38	0.09027	5.35	-1.38	0.09027	.	1.295410	0.05175	N	0.500234	T	0.04815	0.0130	N	0.01482	-0.84	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.39461	-0.9613	9	.	.	.	-2.439	9.4725	0.38851	0.0:0.1393:0.6062:0.2545	.	216	Q14C87	T132D_HUMAN	M	216	ENSP00000408581:V216M	.	V	-	1	0	0	TMEM132D	128750630	128750630	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.785000	0.04628	0.059000	0.16252	0.650000	0.86243	GTG	0.643399		TCGA-FB-A545-01A-11D-A26I-08	0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	1	2	2	2	2	0	0	0	0	55	55	55	54	1	3.130000	-20.000000	1	0.530000	NM_133448		0	132	132	0	187	185	1		1			0	0	55	0	0	1.000000	0	0	0	0	0	0	132	187
ADAMTS7	11173	broad.mit.edu	37	15	79090455	79090455	+	Splice_Site	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:79090455T>C	ENST00000388820.4	-	3	667	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	153					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AACACACCTTTCTGGGGAAGA	0.652																																						ENST00000388820.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				54						c.(457-459)Aaa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 7							70.0	67.0	68.0					15																	79090455		2196	4293	6489	SO:0001630	splice_region_variant	11173	0	0					g.chr15:79090455T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.457-1A>G	chr15.hg19:g.79090455T>C		1					ADAMTS7_ENST00000566303.1_5'UTR	p.K153E	NM_014272.3	NP_055087.2	0	2	2	1.600549	Q9UKP4	ATS7_HUMAN		3	667	-			Q14F51|Q6P7J9	Splice_Site	SNP	ENST00000388820.4	1	0	hg19	c.457A>G	CCDS32303.1	1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722889	0.48728	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.05786	3.39	4.5	3.36	0.38483	4.5	3.36	0.38483	Peptidase M12B, propeptide (1);	0.255369	0.38492	N	0.001670	T	0.08802	0.0218	M	0.68317	2.08	0.36372	D	0.861369	B;B;P	0.35527	0.24;0.24;0.507	B;B;B	0.37731	0.253;0.232;0.257	T	0.23511	-1.0186	10	0.17369	T	0.5	.	10.1068	0.42539	0.0:0.0:0.1867:0.8133	.	153;153;153	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	E	153	ENSP00000373472:K153E	ENSP00000373472:K153E	K	-	1	0	0	ADAMTS7	76877510	76877510	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	3.905000	0.56333	0.671000	0.31185	0.260000	0.18958	AAA	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	1	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	3.130000	-20.000000	1	0.530000	NM_014272	Missense_Mutation	0	169	166	0	149	149	1		1	0		0	0	58	0	0	1.000000	5.466691e-01	0	0	0	3	0	169	149
NTRK3	4916	broad.mit.edu	37	15	88483870	88483870	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:88483870A>G	ENST00000360948.2	-	14	1861	c.1700T>C	c.(1699-1701)aTg>aCg	p.M567T	NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T|NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000542733.2_Missense_Mutation_p.M469T|NTRK3_ENST00000394480.2_Missense_Mutation_p.M567T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCACAAGCATCTTGTCCTT	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000360948.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000				Dom	yes			Dom	yes		15	15q25	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""				"""E, M"""	E, M	ETV6		congenital fibrosarcoma, Secretory breast 	ETV6/NTRK3(238)	0				119						c.(1699-1701)aTg>aCg		neurotrophic tyrosine kinase, receptor, type 3							125.0	104.0	111.0					15																	88483870		2201	4299	6500	SO:0001583	missense	4916	0	0					g.chr15:88483870A>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1700T>C	chr15.hg19:g.88483870A>G	ENSP00000354207:p.Met567Thr	1	TSP Lung(13;0.10)				NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000394480.2_Missense_Mutation_p.M567T|NTRK3_ENST00000542733.2_Missense_Mutation_p.M469T|NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T	p.M567T	NM_001012338.2	NP_001012338.1	0	2	2	1.600549	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)	14	1861	-			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	1	1	hg19	c.1700T>C	CCDS32322.1	1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858456	0.51376	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.29	5.29	0.74685	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	N	0.01473	-0.845	0.80722	D	1	B;B;B;B;B	0.33919	0.253;0.432;0.236;0.213;0.115	B;B;B;B;B	0.41466	0.208;0.358;0.241;0.14;0.115	T	0.75584	-0.3267	10	0.02654	T	1	.	14.3918	0.66983	1.0:0.0:0.0:0.0	.	469;559;559;567;567	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	T	567;567;559;567;469;63	ENSP00000377990:M567T;ENSP00000354207:M567T;ENSP00000350356:M559T;ENSP00000347397:M567T;ENSP00000437773:M469T	ENSP00000342792:M63T	M	-	2	0	0	NTRK3	86284874	86284874	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.020000	0.93667	2.004000	0.58718	0.533000	0.62120	ATG	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	75	75	75	75	1	3.130000	-20.000000	1	0.530000			0	208	206	0	240	235	1		1			0	0	75	0	0	1.000000	0	0	0	0	0	0	208	240
ATXN2L	11273	broad.mit.edu	37	16	28841310	28841310	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr16:28841310C>T	ENST00000336783.4	+	8	1132	c.965C>T	c.(964-966)aCt>aTt	p.T322I	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	322					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612																																						ENST00000336783.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				36						c.(964-966)aCt>aTt		ataxin 2-like							50.0	44.0	46.0					16																	28841310		2197	4300	6497	SO:0001583	missense	11273	0	0					g.chr16:28841310C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.965C>T	chr16.hg19:g.28841310C>T	ENSP00000338718:p.Thr322Ile	1					ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I	p.T322I	NM_007245.3	NP_009176.2	2	2	4	2.242656	Q8WWM7	ATX2L_HUMAN		8	1132	+			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	1	1	hg19	c.965C>T	CCDS10641.1	1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.424961	0.83667	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.84;0.83	5.7	5.7	0.88788	5.7	5.7	0.88788	LsmAD domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.43152	1.355	0.52099	D	0.999944	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.72338	0.961;0.961;0.977;0.977;0.961;0.961;0.977;0.961	T	0.64292	-0.6442	10	0.87932	D	0	-12.0156	18.5887	0.91200	0.0:1.0:0.0:0.0	.	322;322;322;322;322;322;322;322	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	I	322	ENSP00000341459:T322I;ENSP00000378917:T322I;ENSP00000338718:T322I;ENSP00000372133:T322I;ENSP00000315650:T322I	ENSP00000315650:T322I	T	+	2	0	0	ATXN2L	28748811	28748811	0.877000	0.30153	0.994000	0.49952	0.990000	0.78478	1.577000	0.36515	2.702000	0.92279	0.491000	0.48974	ACT	0.678325		TCGA-FB-A545-01A-11D-A26I-08	0.612	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	0	0	1	2	28	11	2	1	1	1	1	33	33	33	33	1	3.130000	-20.000000	1	0.530000	NM_007245		0	128	128	0	213	211	0		1	1		1	0	33	0	0	1.000000	1	0	37	0	63	0	128	213
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	1	121412	37	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.chr17:7577121G>A	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.817C>T	chr17.hg19:g.7577121G>A	ENSP00000269305:p.Arg273Cys	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	2	2	1.413790	P04637	P53_HUMAN		8	1006	-		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	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.817C>T	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	0	TP53	7517846	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	21	21	21	21	1	3.130000	-20.000000	1	0.530000	NM_000546		0	87	86	0	73	73	0		1	1	1	0	0	21	731	0	1.000000	1	1	17	380	20	262	87	73
USH2A	7399	broad.mit.edu	37	1	215960150	215960150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:215960150C>T	ENST00000307340.3	-	52	10635	c.10249G>A	c.(10249-10251)Gac>Aac	p.D3417N	USH2A_ENST00000366943.2_Missense_Mutation_p.D3417N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3417	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTGAAGTCACACCTGCCA	0.493										HNSCC(13;0.011)																												ENST00000307340.3	1.000000	0.910000	1.000000	0.990000	0.990000	0.994242	0.990000	1.000000																										0				527						c.(10249-10251)Gac>Aac		Usher syndrome 2A (autosomal recessive, mild)							65.0	59.0	61.0					1																	215960150		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:215960150C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10249G>A	chr1.hg19:g.215960150C>T	ENSP00000305941:p.Asp3417Asn	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.D3417N	p.D3417N	NM_206933.2	NP_996816	1	3	4	2.024946	O75445	USH2A_HUMAN		52	10635	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.10249G>A	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223870	0.58668	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16897	2.33;2.31	4.88	3.96	0.45880	4.88	3.96	0.45880	Fibronectin, type III (3);	0.000000	0.47455	D	0.000226	T	0.20007	0.0481	M	0.69823	2.125	0.43637	D	0.996032	B	0.19200	0.034	B	0.16722	0.016	T	0.03453	-1.1035	10	0.39692	T	0.17	.	10.8728	0.46894	0.0:0.9128:0.0:0.0872	.	3417	O75445	USH2A_HUMAN	N	3417	ENSP00000305941:D3417N;ENSP00000355910:D3417N	ENSP00000305941:D3417N	D	-	1	0	0	USH2A	214026773	214026773	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	1.227000	0.32576	2.225000	0.72522	0.655000	0.94253	GAC	0.637569		TCGA-FB-A545-01A-11D-A26I-08	0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	2	2	2	2	0	0	0	0	33	33	33	33	1	3.130000	-20.000000	1	0.530000	NM_007123		0	64	61	0	213	203	1		1			0	0	33	0	0	1.000000	0	0	0	0	0	0	64	213
C1orf174	339448	broad.mit.edu	37	1	3809528	3809528	+	Missense_Mutation	SNP	C	C	G	rs35157037	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:3809528C>G	ENST00000361605.3	-	2	146	c.48G>C	c.(46-48)ttG>ttC	p.L16F	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	16						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TTCGTGCTTTCAAGCGCGCTG	0.552																																						ENST00000361605.3	1.000000	0.720000	1.000000	0.840000	0.970000	0.939783	0.970000	1.000000																										0				11						c.(46-48)ttG>ttC		chromosome 1 open reading frame 174							78.0	66.0	70.0					1																	3809528		2203	4300	6503	SO:0001583	missense	339448	0	0					g.chr1:3809528C>G	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.48G>C	chr1.hg19:g.3809528C>G	ENSP00000355306:p.Leu16Phe	1					C1orf174_ENST00000486765.1_5'UTR	p.L16F	NM_207356.2	NP_997239.2	1	2	3	1.962060	Q8IYL3	CA174_HUMAN		2	146	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	1	0	hg19	c.48G>C	CCDS53.1	1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364705	0.24684	.	.	ENSG00000198912	ENST00000361605	T	0.27256	1.68	4.32	-3.09	0.05331	4.32	-3.09	0.05331	.	0.201603	0.32884	N	0.005522	T	0.33235	0.0856	L	0.58101	1.795	0.09310	N	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.17137	-1.0379	10	0.52906	T	0.07	-21.7736	1.8365	0.03141	0.1312:0.3716:0.1314:0.3657	.	16	Q8IYL3	CA174_HUMAN	F	16	ENSP00000355306:L16F	ENSP00000355306:L16F	L	-	3	2	2	C1orf174	3799388	3799388	0.067000	0.21026	0.017000	0.16124	0.017000	0.09413	-0.052000	0.11865	-0.454000	0.07066	0.462000	0.41574	TTG	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.552	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	1	0	1	2	2	2	2	0	0	0	0	34	34	34	34	1	3.130000	-2.019185	0	0.530000	NM_207356		0	39	39	0	151	150	1		1	1		0	0	34	0	0	1.000000	8.866638e-01	0	7	0	10	0	39	151
BAI2	576	broad.mit.edu	37	1	32196436	32196436	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:32196436C>T	ENST00000373658.3	-	29	4686	c.4345G>A	c.(4345-4347)Gtg>Atg	p.V1449M	BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1449					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGCCGGGCACGGTGCGAGGC	0.647																																						ENST00000373658.3	1.000000	0.740000	0.990000	0.810000	0.900000	0.902904	0.900000	1.000000																										0				55						c.(4345-4347)Gtg>Atg		brain-specific angiogenesis inhibitor 2							41.0	50.0	47.0					1																	32196436		2201	4298	6499	SO:0001583	missense	576	0	0					g.chr1:32196436C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4345G>A	chr1.hg19:g.32196436C>T	ENSP00000362762:p.Val1449Met	1					BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M	p.V1449M	NM_001703.2	NP_001694.2	1	2	3	1.993825	O60241	BAI2_HUMAN		29	4686	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	1	1	hg19	c.4345G>A	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061905	0.76187	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.000000	0.38897	N	0.001528	T	0.19248	0.0462	L	0.43152	1.355	0.39977	D	0.974866	D;D;P;D;D;D;D	0.89917	0.997;0.996;0.454;1.0;0.997;0.993;1.0	D;P;B;D;D;P;D	0.65233	0.933;0.85;0.072;0.925;0.933;0.713;0.925	T	0.00057	-1.2171	10	0.54805	T	0.06	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	1416;1437;1058;1364;1449;1449;1437	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	M	1364;1382;1449;1449;1349;1416;1416;1058;1437	ENSP00000381564:V1364M;ENSP00000381555:V1382M;ENSP00000362762:V1449M;ENSP00000362759:V1449M;ENSP00000381550:V1349M;ENSP00000257070:V1416M;ENSP00000435397:V1416M;ENSP00000391071:V1058M;ENSP00000381548:V1437M	ENSP00000257070:V1416M	V	-	1	0	0	BAI2	31969023	31969023	0.999000	0.42202	0.997000	0.53966	0.975000	0.68041	4.281000	0.58965	2.884000	0.98904	0.655000	0.94253	GTG	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	1	2	2	2	2	0	0	0	0	91	91	91	91	1	3.130000	-20.000000	1	0.530000	NM_001703		0	94	93	0	402	400	1		1	0		0	0	91	0	0	1.000000	3.220598e-01	0	0	0	6	0	94	402
C1orf87	127795	broad.mit.edu	37	1	60491098	60491098	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:60491098C>G	ENST00000371201.3	-	8	1209	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	368							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TAACCCAAATCTTGATGGTTA	0.363																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				33						c.(1102-1104)Gat>Cat		chromosome 1 open reading frame 87							114.0	117.0	116.0					1																	60491098		2203	4300	6503	SO:0001583	missense	127795	0	0					g.chr1:60491098C>G	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1102G>C	chr1.hg19:g.60491098C>G	ENSP00000360244:p.Asp368His	1					C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H	p.D368H	NM_152377.2	NP_689590.1	1	2	3	1.993825	Q8N0U7	CA087_HUMAN		8	1209	-			Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	1	1	hg19	c.1102G>C	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935246	0.52866	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.61158	0.13	5.09	2.2	0.27929	5.09	2.2	0.27929	EF-hand-like domain (1);	0.584662	0.16488	N	0.212227	T	0.47820	0.1466	L	0.56769	1.78	0.80722	D	1	B	0.31931	0.347	B	0.29176	0.099	T	0.44065	-0.9352	10	0.72032	D	0.01	-3.802	5.065	0.14578	0.0:0.6433:0.1715:0.1851	.	368	Q8N0U7	CA087_HUMAN	H	368;139	ENSP00000360244:D368H	ENSP00000360244:D368H	D	-	1	0	0	C1orf87	60263686	60263686	0.912000	0.30974	0.991000	0.47740	0.886000	0.51366	1.044000	0.30329	0.322000	0.23283	0.555000	0.69702	GAT	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.363	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	1	0	1	2	2	2	2	0	0	0	0	39	39	39	38	1	3.130000	-20.000000	1	0.530000	NM_152377		0	96	95	0	196	195	1		1			0	0	39	0	0	1.000000	0	0	0	0	0	0	96	196
COL24A1	255631	broad.mit.edu	37	1	86497562	86497562	+	Splice_Site	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:86497562C>G	ENST00000370571.2	-	14	2414	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T	COL24A1_ENST00000436319.1_Splice_Site_p.R683T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	683	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATACTCACTCTAAGCCCAGG	0.338																																						ENST00000370571.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				101						c.(2047-2049)aGa>aCa		collagen, type XXIV, alpha 1							80.0	83.0	82.0					1																	86497562		1825	4067	5892	SO:0001630	splice_region_variant	255631	0	0					g.chr1:86497562C>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2049+1G>C	chr1.hg19:g.86497562C>G		1					COL24A1_ENST00000436319.1_Splice_Site_p.R683T	p.R683T	NM_152890.5	NP_690850.2	1	2	3	1.993825	Q17RW2	COOA1_HUMAN		14	2414	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Splice_Site	SNP	ENST00000370571.2	1	0	hg19	c.2048G>C	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843508	0.32606	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.87	3.98	0.46160	5.87	3.98	0.46160	.	0.392618	0.18587	N	0.136858	D	0.84737	0.5538	L	0.49256	1.55	0.46631	D	0.999131	B	0.10296	0.003	B	0.10450	0.005	T	0.79497	-0.1779	10	0.10902	T	0.67	.	16.8292	0.85939	0.0:0.758:0.242:0.0	.	683	Q17RW2	COOA1_HUMAN	T	683	ENSP00000359603:R683T;ENSP00000392531:R683T	ENSP00000359603:R683T	R	-	2	0	0	COL24A1	86270150	86270150	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.828000	0.48120	0.912000	0.36772	0.655000	0.94253	AGA	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.338	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	2	2	2	2	0	0	0	0	48	48	48	48	1	3.130000	-20.000000	1	0.530000	NM_152890	Missense_Mutation	0	203	200	0	289	284	1		1			0	0	48	0	0	1.000000	0	0	0	0	0	0	203	289
SPATA17	128153	broad.mit.edu	37	1	217947827	217947827	+	Missense_Mutation	SNP	G	G	A	rs376601327		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:217947827G>A	ENST00000366933.4	+	7	726	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	224						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACAAGCGCCCGTTCTTTTCCT	0.403																																						ENST00000366933.4	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				21						c.(670-672)cGt>cAt		spermatogenesis associated 17		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	70.0	71.0		671	1.4	0.1	1		71	0,8600		0,0,4300	no	missense	SPATA17	NM_138796.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	224/362	217947827	1,13005	2203	4300	6503	SO:0001583	missense	128153	2	121412	35				g.chr1:217947827G>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.671G>A	chr1.hg19:g.217947827G>A	ENSP00000355900:p.Arg224His	1						p.R224H	NM_138796.2	NP_620151.1	1	3	4	2.024946	Q96L03	SPT17_HUMAN		7	726	+			A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	1	1	hg19	c.671G>A	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	9.603	1.129341	0.21041	2.27E-4	0.0	ENSG00000162814	ENST00000366933	T	0.46451	0.87	5.45	1.39	0.22231	5.45	1.39	0.22231	.	0.436237	0.24820	N	0.035323	T	0.20618	0.0496	N	0.25890	0.77	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.10177	-1.0641	10	0.15499	T	0.54	-12.9268	1.6448	0.02759	0.3165:0.1634:0.4025:0.1176	.	224	Q96L03	SPT17_HUMAN	H	224	ENSP00000355900:R224H	ENSP00000355900:R224H	R	+	2	0	0	SPATA17	216014450	216014450	0.000000	0.05858	0.053000	0.19242	0.387000	0.30353	-0.047000	0.11963	0.339000	0.23719	0.563000	0.77884	CGT	0.637569		TCGA-FB-A545-01A-11D-A26I-08	0.403	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	1	0	1	2	2	2	2	0	0	0	0	39	39	39	39	1	3.130000	-20.000000	1	0.530000	NM_138796		0	146	145	0	202	200	1		1	0		0	0	39	0	0	1.000000	1.770940e-01	0	1	0	1	0	146	202
TOX2	84969	broad.mit.edu	37	20	42635419	42635419	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr20:42635419G>T	ENST00000358131.5	+	3	633	c.425G>T	c.(424-426)gGc>gTc	p.G142V	TOX2_ENST00000341197.4_Missense_Mutation_p.G133V|TOX2_ENST00000372999.1_Missense_Mutation_p.G91V|TOX2_ENST00000423191.2_Missense_Mutation_p.G91V|RN7SL443P_ENST00000464331.2_RNA	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	142					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGTCGGGCCAGCTGCCC	0.587																																						ENST00000358131.5	1.000000	0.990000	1.000000	0.990000	0.990000	0.999999	0.990000	1.000000																										0				26						c.(424-426)gGc>gTc		TOX high mobility group box family member 2							54.0	42.0	46.0					20																	42635419		2203	4300	6503	SO:0001583	missense	84969	0	0					g.chr20:42635419G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.425G>T	chr20.hg19:g.42635419G>T	ENSP00000350849:p.Gly142Val	1					TOX2_ENST00000372999.1_Missense_Mutation_p.G91V|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000341197.4_Missense_Mutation_p.G133V|TOX2_ENST00000423191.2_Missense_Mutation_p.G91V	p.G142V	NM_001098798.1	NP_001092268.1	2	2	4	2.276915	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)	3	633	+		Myeloproliferative disorder(115;0.00452)	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	1	1	hg19	c.425G>T	CCDS42875.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391733	0.42410	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.440984	0.25575	N	0.029739	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	P;B;B;B	0.39480	0.675;0.151;0.058;0.115	B;B;B;B	0.41988	0.372;0.045;0.022;0.033	T	0.01476	-1.1345	10	0.40728	T	0.16	.	13.8806	0.63680	0.0:0.1528:0.8472:0.0	.	133;91;142;91	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	V	133;91;91;91;142	ENSP00000344724:G133V;ENSP00000396584:G91V;ENSP00000390278:G91V;ENSP00000362090:G91V;ENSP00000350849:G142V	ENSP00000344724:G133V	G	+	2	0	0	TOX2	42068833	42068833	0.999000	0.42202	0.981000	0.43875	0.998000	0.95712	4.475000	0.60210	2.631000	0.89168	0.655000	0.94253	GGC	0.682925		TCGA-FB-A545-01A-11D-A26I-08	0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1	2	2	2	2	0	0	0	0	30	30	30	29	1	3.130000	-20.000000	1	0.530000			0	55	54	0	131	129	1		1	0		0	0	30	0	0	1.000000	8.983452e-02	0	0	0	2	0	55	131
ZNF74	7625	broad.mit.edu	37	22	20760941	20760941	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:20760941A>G	ENST00000400451.2	+	5	2132	c.1618A>G	c.(1618-1620)Aac>Gac	p.N540D	ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTCAGCCAGAACCACTGTCT	0.547																																						ENST00000400451.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1618-1620)Aac>Gac		zinc finger protein 74							70.0	79.0	76.0					22																	20760941		2203	4300	6503	SO:0001583	missense	7625	0	0					g.chr22:20760941A>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1618A>G	chr22.hg19:g.20760941A>G	ENSP00000383301:p.Asn540Asp	1					ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D|ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR	p.N540D	NM_003426.3	NP_003417.2	2	2	4	2.312570	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)	5	2132	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	1	1	hg19	c.1618A>G	CCDS42982.1	1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343858	0.61073	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.28255	1.62;1.62;1.62	4.15	4.15	0.48705	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000526	T	0.25306	0.0615	N	0.17564	0.495	0.21579	N	0.999635	D	0.58268	0.982	P	0.52554	0.702	T	0.05037	-1.0910	10	0.36615	T	0.2	-40.4338	7.9518	0.30019	0.7914:0.2086:0.0:0.0	.	540	Q16587	ZNF74_HUMAN	D	540;540;508	ENSP00000383301:N540D;ENSP00000349098:N540D;ENSP00000385855:N508D	ENSP00000349098:N540D	N	+	1	0	0	ZNF74	19090941	19090941	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.322000	0.19576	2.097000	0.63578	0.533000	0.62120	AAC	0.687396		TCGA-FB-A545-01A-11D-A26I-08	0.547	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	1	0	1	2	2	2	2	0	0	0	0	75	75	75	74	1	3.130000	-20.000000	1	0.530000	NM_003426		0	203	201	0	410	405	1		1	0		0	0	75	0	0	1.000000	6.445573e-01	0	0	0	6	0	203	410
TRIOBP	11078	broad.mit.edu	37	22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647																																						ENST00000406386.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				12						c.(688-690)Ggg>Agg		TRIO and F-actin binding protein							30.0	35.0	33.0					22																	38119251		2053	4177	6230	SO:0001583	missense	11078	0	0					g.chr22:38119251G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.688G>A	chr22.hg19:g.38119251G>A	ENSP00000384312:p.Gly230Arg	1						p.G230R	NM_001039141.2	NP_001034230.1	2	2	4	2.318011	Q9H2D6	TARA_HUMAN		7	943	+	Melanoma(58;0.0574)		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	1	1	hg19	c.688G>A	CCDS43015.1	1	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755843	0.15846	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29917	1.55	4.74	1.45	0.22620	4.74	1.45	0.22620	.	.	.	.	.	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.21109	-1.0255	9	0.66056	D	0.02	.	4.2708	0.10785	0.2696:0.0:0.5734:0.157	.	230	Q9H2D6	TARA_HUMAN	R	230	ENSP00000384312:G230R	ENSP00000384312:G230R	G	+	1	0	0	TRIOBP	36449197	36449197	0.006000	0.16342	0.021000	0.16686	0.137000	0.21094	0.354000	0.20146	0.456000	0.26937	-0.381000	0.06696	GGG	0.688494		TCGA-FB-A545-01A-11D-A26I-08	0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	1	0	1	2	2	2	2	0	0	0	0	34	34	34	34	1	3.130000	-7.784357	1	0.530000			0	76	75	0	173	171	1		1			0	0	34	0	0	1.000000	0	0	0	0	0	0	76	173
TTN	7273	broad.mit.edu	37	2	179655562	179655562	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:179655562T>C	ENST00000591111.1	-	11	1897	c.1673A>G	c.(1672-1674)gAa>gGa	p.E558G	TTN_ENST00000589042.1_Missense_Mutation_p.E558G|TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					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)			TATCTCAGTTTCCTGTCTTAT	0.393																																						ENST00000591111.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				1448						c.(1672-1674)gAa>gGa		titin							155.0	143.0	147.0					2																	179655562		2203	4300	6503	SO:0001583	missense	7273	0	0					g.chr2:179655562T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1673A>G	chr2.hg19:g.179655562T>C	ENSP00000465570:p.Glu558Gly	1					TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E558G|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.E558G			2	2	4	2.275913	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	11	1897	-			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	1	1	hg19	c.1673A>G		1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904601	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000360870	T;T	0.79247	-1.25;-1.25	5.07	3.89	0.44902	5.07	3.89	0.44902	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67316	0.2880	N	0.24115	0.695	0.80722	D	1	B;B	0.34329	0.099;0.449	B;B	0.37091	0.112;0.241	T	0.68450	-0.5405	9	0.87932	D	0	.	12.0991	0.53772	0.0:0.0:0.1438:0.8562	.	558;558	Q8WZ42;Q8WZ42-6	TITIN_HUMAN;.	G	558	ENSP00000343764:E558G;ENSP00000354117:E558G	ENSP00000343764:E558G	E	-	2	0	0	TTN	179363807	179363807	0.995000	0.38212	1.000000	0.80357	0.927000	0.56198	2.570000	0.45981	0.921000	0.36994	0.533000	0.62120	GAA	0.682925		TCGA-FB-A545-01A-11D-A26I-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	2	2	2	2	0	0	0	0	50	50	50	50	1	3.130000	-20.000000	1	0.530000	NM_133378		0	214	213	0	343	337	1		1			0	0	50	0	0	1.000000	0	0	0	0	0	0	214	343
UNC50	25972	broad.mit.edu	37	2	99226308	99226308	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:99226308C>T	ENST00000357765.2	+	2	238	c.86C>T	c.(85-87)gCg>gTg	p.A29V	COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.A46V|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.A46V	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	29					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACAGCCGGAGCGAAACGCTAC	0.493																																						ENST00000357765.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				10						c.(85-87)gCg>gTg		unc-50 homolog (C. elegans)							163.0	163.0	163.0					2																	99226308		2203	4300	6503	SO:0001583	missense	25972	0	0					g.chr2:99226308C>T		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.86C>T	chr2.hg19:g.99226308C>T	ENSP00000350409:p.Ala29Val	1					COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.A46V|UNC50_ENST00000409975.1_Missense_Mutation_p.A46V|COA5_ENST00000409997.1_5'Flank	p.A29V	NM_014044.5	NP_054763.2	2	2	4	2.367309	Q53HI1	UNC50_HUMAN		2	238	+			D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	1	1	hg19	c.86C>T	CCDS2035.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810691	0.90707	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.153865	0.56097	D	0.000026	T	0.70727	0.3257	L	0.58810	1.83	0.80722	D	1	D	0.67145	0.996	P	0.55345	0.774	T	0.69551	-0.5115	9	0.35671	T	0.21	-29.8512	17.7675	0.88482	0.0:1.0:0.0:0.0	.	29	Q53HI1	UNC50_HUMAN	V	29;46;46	.	ENSP00000350409:A29V	A	+	2	0	0	UNC50	98592740	98592740	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.595000	0.67563	2.505000	0.84491	0.591000	0.81541	GCG	0.692810		TCGA-FB-A545-01A-11D-A26I-08	0.493	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	1	2	2	2	2	0	0	0	0	142	142	142	142	1	3.130000	-20.000000	1	0.530000	NM_014044		0	500	498	0	1002	998	1		1	1		0	0	142	0	0	1.000000	1	0	20	0	45	0	500	1002
TMEM198	130612	broad.mit.edu	37	2	220414568	220414568	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:220414568C>T	ENST00000344458.2	+	6	1660	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	359					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCCCAGTGCGGGTATAGCC	0.622																																						ENST00000344458.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				16						c.(1075-1077)Cgg>Tgg		transmembrane protein 198							49.0	55.0	53.0					2																	220414568		2203	4300	6503	SO:0001583	missense	130612	2	121412	36				g.chr2:220414568C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.1075C>T	chr2.hg19:g.220414568C>T	ENSP00000343507:p.Arg359Trp	1					RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W	p.R359W			2	2	4	2.275913	Q66K66	TM198_HUMAN		6	1660	+		Renal(207;0.0376)		Missense_Mutation	SNP	ENST00000344458.2	1	1	hg19	c.1075C>T	CCDS33385.1	1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757344	0.69648	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.070539	0.56097	D	0.000030	T	0.34978	0.0916	N	0.14661	0.345	0.53005	D	0.999966	B	0.33022	0.394	B	0.25291	0.059	T	0.37267	-0.9713	9	0.87932	D	0	-11.0301	14.7067	0.69198	0.1454:0.8546:0.0:0.0	.	359	Q66K66	TM198_HUMAN	W	359	.	ENSP00000343507:R359W	R	+	1	2	2	TMEM198	220122812	220122812	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.741000	0.47426	2.824000	0.97209	0.655000	0.94253	CGG	0.682925		TCGA-FB-A545-01A-11D-A26I-08	0.622	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	1	2	2	2	2	0	0	0	0	80	80	80	79	1	3.130000	-20.000000	1	0.530000	NM_001005209		0	190	190	0	426	419	1		1	0		0	0	80	0	0	1.000000	4.899558e-01	0	1	0	4	0	190	426
SATB1	6304	broad.mit.edu	37	3	18462359	18462359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:18462359T>G	ENST00000338745.6	-	2	1835	c.101A>C	c.(100-102)gAg>gCg	p.E34A	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|SATB1_ENST00000417717.2_Missense_Mutation_p.E34A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	34					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCGTTCTGCTCCAGGCGGGC	0.507																																						ENST00000338745.6	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				32						c.(100-102)gAg>gCg		SATB homeobox 1							135.0	139.0	138.0					3																	18462359		2203	4300	6503	SO:0001583	missense	6304	0	0					g.chr3:18462359T>G		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.101A>C	chr3.hg19:g.18462359T>G	ENSP00000341024:p.Glu34Ala	1					SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|SATB1_ENST00000417717.2_Missense_Mutation_p.E34A|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|TBC1D5_ENST00000414318.2_Intron	p.E34A	NM_002971.4	NP_002962.1	1	2	3	1.963190	Q01826	SATB1_HUMAN		2	1835	-			B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	1	1	hg19	c.101A>C	CCDS2631.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796438	0.90453	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.83	5.83	0.93111	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.955	T	0.73616	-0.3926	10	0.87932	D	0	-13.3153	16.2147	0.82198	0.0:0.0:0.0:1.0	.	34;34	Q01826-2;Q01826	.;SATB1_HUMAN	A	34	ENSP00000341024:E34A;ENSP00000399708:E34A;ENSP00000399518:E34A;ENSP00000402982:E34A;ENSP00000406727:E34A;ENSP00000390529:E34A;ENSP00000398072:E34A;ENSP00000408871:E34A;ENSP00000391344:E34A	ENSP00000341024:E34A	E	-	2	0	0	SATB1	18437363	18437363	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.231000	0.72958	0.460000	0.39030	GAG	0.627679		TCGA-FB-A545-01A-11D-A26I-08	0.507	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	1	0	1	2	2	2	2	0	0	0	0	93	93	93	92	1	3.130000	-20.000000	1	0.530000	NM_001131010		0	377	374	0	517	516	1		1	1		0	0	93	0	0	1.000000	9.644280e-01	0	5	0	5	0	377	517
DLEC1	9940	broad.mit.edu	37	3	38087134	38087134	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:38087134T>C	ENST00000308059.6	+	2	533	c.512T>C	c.(511-513)aTg>aCg	p.M171T	DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T|DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGCGGGTCATGAGCCAGGCT	0.532																																						ENST00000308059.6	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				51						c.(511-513)aTg>aCg		deleted in lung and esophageal cancer 1							65.0	66.0	65.0					3																	38087134		1942	4139	6081	SO:0001583	missense	9940	0	0					g.chr3:38087134T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.512T>C	chr3.hg19:g.38087134T>C	ENSP00000308597:p.Met171Thr	1					DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T|DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T	p.M171T			1	2	3	1.963190				2	533	+				Missense_Mutation	SNP	ENST00000308059.6	1	1	hg19	c.512T>C	CCDS2672.2	1	.	.	.	.	.	.	.	.	.	.	T	3.529	-0.096060	0.07010	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04454	3.64;3.62;3.86	4.8	1.09	0.20402	4.8	1.09	0.20402	.	0.831243	0.11038	N	0.606427	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.47824	-0.9087	10	0.21540	T	0.41	-1.8806	6.245	0.20811	0.0:0.3221:0.0:0.6779	.	171;171;171	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	171	ENSP00000308597:M171T;ENSP00000315914:M171T;ENSP00000410427:M171T	ENSP00000308597:M171T	M	+	2	0	0	DLEC1	38062138	38062138	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.141000	0.10327	0.040000	0.15660	0.533000	0.62120	ATG	0.627679		TCGA-FB-A545-01A-11D-A26I-08	0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	1	0	1	2	2	2	2	0	0	0	0	65	65	65	64	1	3.130000	-20.000000	1	0.530000	NM_007337		0	167	165	0	232	232	1		1			0	0	65	0	0	1.000000	0	0	0	0	0	0	167	232
MST1R	4486	broad.mit.edu	37	3	49936017	49936017	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49936017C>T	ENST00000296474.3	-	4	1680	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.M551I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	551					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGGCCGCACATGTTCCCAC	0.602																																						ENST00000296474.3	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				37						c.(1651-1653)atG>atA		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							72.0	71.0	71.0					3																	49936017		2203	4300	6503	SO:0001583	missense	4486	0	0					g.chr3:49936017C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1653G>A	chr3.hg19:g.49936017C>T	ENSP00000296474:p.Met551Ile	1					MST1R_ENST00000344206.4_Missense_Mutation_p.M551I|CTD-2330K9.2_ENST00000435478.1_RNA	p.M551I	NM_002447.2	NP_002438	1	2	3	1.919557	Q04912	RON_HUMAN		4	1680	-			B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	1	1	hg19	c.1653G>A	CCDS2807.1	1	.	.	.	.	.	.	.	.	.	.	C	6.278	0.419493	0.11928	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.40476	1.03;3.05	5.78	2.89	0.33648	5.78	2.89	0.33648	.	0.728645	0.13917	N	0.353825	T	0.26122	0.0637	N	0.26042	0.785	0.23572	N	0.997382	B;B;B;B	0.19817	0.039;0.012;0.004;0.003	B;B;B;B	0.14023	0.009;0.01;0.007;0.001	T	0.13335	-1.0513	10	0.54805	T	0.06	-3.2634	3.9856	0.09514	0.1046:0.5013:0.2391:0.155	.	445;551;551;551	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	I	551	ENSP00000296474:M551I;ENSP00000341325:M551I	ENSP00000296474:M551I	M	-	3	0	0	MST1R	49911021	49911021	0.000000	0.05858	0.890000	0.34922	0.746000	0.42486	-0.224000	0.09164	1.452000	0.47756	0.491000	0.48974	ATG	0.625319		TCGA-FB-A545-01A-11D-A26I-08	0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1	2	2	2	2	0	0	0	0	78	78	78	78	1	3.130000	-20.000000	1	0.530000			0	209	206	0	336	329	1		1	1		0	0	78	0	0	1.000000	1	0	38	0	38	0	209	336
IFT122	55764	broad.mit.edu	37	3	129195581	129195581	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:129195581C>T	ENST00000348417.2	+	11	1161	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000296266.3_Missense_Mutation_p.R413C|IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	362					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTACAAGGACCGCTATGCCTA	0.537																																						ENST00000348417.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				52						c.(1084-1086)Cgc>Tgc		intraflagellar transport 122							92.0	90.0	91.0					3																	129195581		2203	4300	6503	SO:0001583	missense	55764	6	121412	42				g.chr3:129195581C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1084C>T	chr3.hg19:g.129195581C>T	ENSP00000324005:p.Arg362Cys	1					IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C|IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000296266.3_Missense_Mutation_p.R413C	p.R362C	NM_052989.1	NP_443715.1	1	2	3	1.984701	Q9HBG6	IF122_HUMAN		11	1161	+			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	1	1	hg19	c.1084C>T	CCDS3061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043912|5.043912	0.93685|0.93685	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;D;T;T;T;D	.|0.90261	.|0.5;-0.16;-0.04;-2.64;0.65;0.63;0.47;-2.64	5.65|5.65	5.65|5.65	0.86999|0.86999	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96012|0.96012	0.8701|0.8701	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;0.986;0.986;0.992;1.0;1.0	.|D;D;P;P;P;P;D;D	.|0.85130	.|0.997;0.988;0.755;0.568;0.568;0.805;0.993;0.997	D|D	0.95987|0.95987	0.8982|0.8982	5|10	.|0.66056	.|D	.|0.02	-24.8899|-24.8899	19.7278|19.7278	0.96172|0.96172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|153;354;256;202;251;303;362;413	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	L|C	240;188|303;413;354;303;212;256;251;362;202;153	.|ENSP00000323973:R303C;ENSP00000296266:R413C;ENSP00000425536:R354C;ENSP00000410946:R212C;ENSP00000422179:R256C;ENSP00000324165:R251C;ENSP00000324005:R362C;ENSP00000401569:R153C	.|ENSP00000296266:R413C	P|R	+|+	2|1	0|0	0|0	IFT122|IFT122	130678271|130678271	130678271|130678271	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.950000|0.950000	0.60333|0.60333	7.440000|7.440000	0.80464|0.80464	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	CCG|CGC	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.537	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	1	0	1	2	2	2	2	0	0	0	0	65	65	65	65	1	3.130000	-3.318794	1	0.530000	NM_018262		0	181	180	0	252	251	1		1	1		0	0	65	0	0	1.000000	6.928083e-01	0	2	0	3	0	181	252
GAK	2580	broad.mit.edu	37	4	864531	864531	+	Missense_Mutation	SNP	C	C	T	rs369492221		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:864531C>T	ENST00000314167.4	-	19	2326	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	GAK_ENST00000511163.1_Missense_Mutation_p.R660Q|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	739					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCCTCCCGGCTGGAAAA	0.562																																						ENST00000314167.4	0.260000	0.090000	0.210000	0.120000	0.160000	0.174426	0.160000	0.160000																										0				39						c.(2215-2217)cGg>cAg		cyclin G associated kinase		C	GLN/ARG	0,4406		0,0,2203	103.0	96.0	98.0		2216	5.6	1.0	4		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	GAK	NM_005255.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	739/1312	864531	1,13005	2203	4300	6503	SO:0001583	missense	2580	3	121412	36				g.chr4:864531C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2216G>A	chr4.hg19:g.864531C>T	ENSP00000314499:p.Arg739Gln	1					GAK_ENST00000511163.1_Missense_Mutation_p.R660Q|GAK_ENST00000509566.1_5'UTR	p.R739Q	NM_005255.2	NP_005246.2	1	2	3	2.001705	O14976	GAK_HUMAN		19	2326	-			Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	1	1	hg19	c.2216G>A	CCDS3340.1	0	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037804	0.75617	0.0	1.16E-4	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.77358	-0.65;-1.09	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.125201	0.56097	D	0.000034	T	0.75700	0.3885	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.51791	0.791;0.948;0.791;0.898	B;P;B;B	0.44897	0.126;0.463;0.126;0.27	T	0.72567	-0.4254	10	0.12103	T	0.63	-23.5808	17.155	0.86788	0.0:1.0:0.0:0.0	.	660;660;739;635	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	Q	739;660	ENSP00000314499:R739Q;ENSP00000421361:R660Q	ENSP00000314499:R739Q	R	-	2	0	0	GAK	854531	854531	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	7.656000	0.83736	2.643000	0.89663	0.655000	0.94253	CGG	0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.562	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	0	0	1	2	2	2	2	0	0	0	0	61	61	61	61	1	3.130000	-2.374798	0	0.530000	NM_005255		0	17	16	0	473	471	0		1	1		0	0	61	0	0	0.999965	7.666833e-01	0	2	0	77	0	17	473
ATP8A1	10396	broad.mit.edu	37	4	42580334	42580334	+	Silent	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:42580334G>A	ENST00000381668.5	-	12	1302	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP8A1_ENST00000264449.10_Silent_p.I357I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	357					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAATAAGCTGATAGGAATGA	0.348																																						ENST00000381668.5	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				51						c.(1069-1071)atC>atT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						112.0	113.0	113.0					4																	42580334		2203	4300	6503	SO:0001819	synonymous_variant	10396	0	0					g.chr4:42580334G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1071C>T	chr4.hg19:g.42580334G>A		1					ATP8A1_ENST00000264449.10_Silent_p.I357I	p.I357I	NM_006095.2	NP_006086.1	1	2	3	2.029622	Q9Y2Q0	AT8A1_HUMAN		12	1302	-			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	1	1	hg19	c.1071C>T	CCDS3466.1	1																																																																																								0.628458		TCGA-FB-A545-01A-11D-A26I-08	0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	1	0	1	2	2	2	2	0	0	0	0	52	52	52	52	1	3.130000	-20.000000	1	0.530000	NM_006095		0	220	219	0	326	323	1		1	0		0	0	52	0	0	1.000000	0	0	0	0	1	0	220	326
ZNF354A	6940	broad.mit.edu	37	5	178139093	178139093	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr5:178139093G>A	ENST00000335815.2	-	5	1983	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	596					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATTTTATAATGATTAGTAAGG	0.373																																						ENST00000335815.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				19						c.(1786-1788)Cat>Tat		zinc finger protein 354A							63.0	67.0	66.0					5																	178139093		2202	4300	6502	SO:0001583	missense	6940	0	0					g.chr5:178139093G>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1786C>T	chr5.hg19:g.178139093G>A	ENSP00000337122:p.His596Tyr	1						p.H596Y	NM_005649.2	NP_005640.2	0	2	2	1.583779	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	5	1983	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	1	1	hg19	c.1786C>T	CCDS4438.1	1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183252	0.21870	.	.	ENSG00000169131	ENST00000335815	D	0.96168	-3.93	4.47	4.47	0.54385	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.97996	0.9340	M	0.93420	3.415	0.42876	D	0.994154	D	0.76494	0.999	D	0.63703	0.917	D	0.99133	1.0853	9	0.87932	D	0	-12.4023	14.9914	0.71390	0.0:0.0:1.0:0.0	.	596	O60765	Z354A_HUMAN	Y	596	ENSP00000337122:H596Y	ENSP00000337122:H596Y	H	-	1	0	0	ZNF354A	178071699	178071699	.	.	0.998000	0.56505	0.200000	0.23975	.	.	2.477000	0.83638	0.655000	0.94253	CAT	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.373	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	1	0	1	2	2	2	2	0	0	0	0	35	35	35	35	1	3.130000	-20.000000	1	0.530000	NM_005649		0	138	137	0	119	118	1		1	1		0	0	35	0	0	1.000000	9.965874e-01	0	6	0	5	0	138	119
CYB5R4	51167	broad.mit.edu	37	6	84649843	84649843	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:84649843C>T	ENST00000369681.5	+	13	1317	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	393					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAGAAGATCTCTTTTTGTT	0.348																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.5	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				23						c.(1177-1179)Ctc>Ttc		cytochrome b5 reductase 4							104.0	109.0	107.0					6																	84649843		2203	4300	6503	SO:0001583	missense	51167	0	0					g.chr6:84649843C>T	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1177C>T	chr6.hg19:g.84649843C>T	ENSP00000358695:p.Leu393Phe	1					CYB5R4_ENST00000479164.1_3'UTR	p.L393F	NM_016230.3	NP_057314.2	0	2	2	1.573032	Q7L1T6	NB5R4_HUMAN		13	1317	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	1	1	hg19	c.1177C>T	CCDS5000.2	1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930026	0.73327	.	.	ENSG00000065615	ENST00000369681	D	0.95412	-3.7	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.057149	0.64402	D	0.000001	D	0.95146	0.8427	M	0.78344	2.41	0.80722	D	1	P	0.48294	0.908	P	0.46885	0.53	D	0.95436	0.8521	10	0.72032	D	0.01	.	15.4232	0.75031	0.0:0.8614:0.1385:0.0	.	393	Q7L1T6	NB5R4_HUMAN	F	393	ENSP00000358695:L393F	ENSP00000358695:L393F	L	+	1	0	0	CYB5R4	84706562	84706562	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.088000	0.41663	2.805000	0.96524	0.655000	0.94253	CTC	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.348	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	1	0	1	2	2	2	2	0	0	0	0	48	48	48	47	1	3.130000	-20.000000	1	0.530000	NM_016230		0	207	207	0	179	176	1		1	1		0	0	48	0	0	1.000000	9.936827e-01	0	6	0	4	0	207	179
KLHL38	340359	broad.mit.edu	37	8	124664070	124664070	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr8:124664070C>T	ENST00000325995.7	-	1	1120	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	366										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATGGGCTCCCCCAGCCTCCA	0.572																																						ENST00000325995.7	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				38						c.(1096-1098)gGg>gAg		kelch-like family member 38							63.0	65.0	64.0					8																	124664070		2017	4186	6203	SO:0001583	missense	340359	0	0					g.chr8:124664070C>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1097G>A	chr8.hg19:g.124664070C>T	ENSP00000321475:p.Gly366Glu	1					CTD-2552K11.2_ENST00000524355.1_RNA	p.G366E	NM_001081675.2	NP_001075144.2	2	2	4	2.347604	Q2WGJ6	KLH38_HUMAN		1	1120	-			A0PK12	Missense_Mutation	SNP	ENST00000325995.7	1	1	hg19	c.1097G>A	CCDS43766.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924416	0.52653	.	.	ENSG00000175946	ENST00000325995	T	0.67345	-0.26	5.18	4.3	0.51218	5.18	4.3	0.51218	Kelch-type beta propeller (1);	0.153290	0.56097	D	0.000021	T	0.67411	0.2890	M	0.83012	2.62	0.33365	D	0.572771	B	0.17268	0.021	B	0.17098	0.017	T	0.72988	-0.4124	10	0.51188	T	0.08	.	10.1655	0.42877	0.1802:0.6871:0.1327:0.0	.	366	Q2WGJ6	KLH38_HUMAN	E	366	ENSP00000321475:G366E	ENSP00000321475:G366E	G	-	2	0	0	KLHL38	124733251	124733251	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	3.244000	0.51399	1.278000	0.44430	0.561000	0.74099	GGG	0.692810		TCGA-FB-A545-01A-11D-A26I-08	0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1	1	0	1	2	2	2	2	0	0	0	0	79	79	79	77	1	3.130000	-13.868340	1	0.530000			0	199	200	0	436	436	1		1	0		0	0	79	0	0	1.000000	0	0	0	0	1	0	199	436
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000539936.1_Missense_Mutation_p.E175K|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	175					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592																																						ENST00000537089.1	0.190000	0.050000	0.160000	0.080000	0.110000	0.124526	0.110000	0.120000																										0				17						c.(247-249)Gag>Aag		aquaporin 7							50.0	46.0	48.0					9																	33386077		2203	4300	6503	SO:0001583	missense	364	0	0					g.chr9:33386077C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.247G>A	chr9.hg19:g.33386077C>T	ENSP00000441619:p.Glu83Lys	1					AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K	p.E83K			0	2	2	1.520844	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	5	565	-			Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	0	1	hg19	c.247G>A		0	.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	0	AQP7	33376077	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.592	AQP7-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	51	51	51	50	1	3.130000	-2.565206	1	0.530000	NM_001170		0	12	8	0	379	364	0		1	0		0	0	51	0	0	0.998849	0	0	0	0	1	0	12	379
KCNT1	57582	broad.mit.edu	37	9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:138641963G>A	ENST00000263604.3	+	3	217	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	73					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607																																						ENST00000263604.3	1.000000	0.030000	0.180000	0.060000	0.110000	0.156207	0.110000	0.110000																										0				50						c.(217-219)Gtc>Atc		potassium channel, subfamily T, member 1							82.0	68.0	73.0					9																	138641963		2203	4300	6503	SO:0001583	missense	57582	1	121400	30				g.chr9:138641963G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.217G>A	chr9.hg19:g.138641963G>A	ENSP00000263604:p.Val73Ile	1					KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I	p.V73I			1	2	3	2.018806	Q5JUK3	KCNT1_HUMAN		3	217	+		Myeloproliferative disorder(178;0.0821)	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	0	1	hg19	c.217G>A		0	.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	0	KCNT1	137781784	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC	0.624526		TCGA-FB-A545-01A-11D-A26I-08	0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	2	2	2	2	0	0	0	0	23	23	23	23	1	3.130000	-6.385526	1	0.530000	NM_020822		0	5	5	0	223	222	0		1			0	0	23	0	0	0.937506	0	0	0	0	0	0	5	223
COL4A5	1287	broad.mit.edu	37	X	107925082	107925082	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:107925082G>T	ENST00000361603.2	+	45	4406	c.4162G>T	c.(4162-4164)Ggt>Tgt	p.G1388C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1394C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1388	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGCTAAAGGGTCTACCAGG	0.458									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000361603.2	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				99						c.(4162-4164)Ggt>Tgt		collagen, type IV, alpha 5							80.0	68.0	72.0					X																	107925082		2203	4300	6503	SO:0001583	missense	1287	0	0		Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		g.chrX:107925082G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4162G>T	chrX.hg19:g.107925082G>T	ENSP00000354505:p.Gly1388Cys						COL4A5_ENST00000328300.6_Missense_Mutation_p.G1394C	p.G1388C	NM_000495.4	NP_000486.1	0	1	1		P29400	CO4A5_HUMAN		45	4406	+			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	1	1	hg19	c.4162G>T	CCDS14543.1	1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549782	0.65311	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97089	-4.24;-4.24	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99236	1.0883	10	0.87932	D	0	.	17.7015	0.88296	0.0:0.0:1.0:0.0	.	1391;1388	E7EVY4;P29400	.;CO4A5_HUMAN	C	1394;1388;1394	ENSP00000331902:G1394C;ENSP00000354505:G1388C	ENSP00000331902:G1394C	G	+	1	0	0	COL4A5	107811738	107811738	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.937000	0.92936	2.196000	0.70406	0.506000	0.49869	GGT	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	3.130000	-20.000000	1	0.530000			0	115	115	0	174	174	1		1	0		0	0	41	0	0	1.000000	3.505188e-01	0	1	0	2	0	115	174
SPANXD	64648	broad.mit.edu	37	X	140785784	140785784	+	Silent	SNP	T	T	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:140785784T>A	ENST00000370515.3	-	2	465	c.132A>T	c.(130-132)acA>acT	p.T44T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	44						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AGGACTCAGATGTTTTTAGTT	0.478																																						ENST00000370515.3	0.130000	0.050000	0.110000	0.060000	0.080000	0.092115	0.080000	0.090000																										0				9						c.(130-132)acA>acT		SPANX family, member D							260.0	180.0	207.0					X																	140785784		2199	4274	6473	SO:0001819	synonymous_variant	64648	0	0					g.chrX:140785784T>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.132A>T	chrX.hg19:g.140785784T>A								p.T44T	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	0	1	1		Q9BXN6	SPNXD_HUMAN		2	465	-	Acute lymphoblastic leukemia(192;7.65e-05)		Q5JWI1	Silent	SNP	ENST00000370515.3	1	1	hg19	c.132A>T	CCDS14675.1	0																																																																																								0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.478	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1	0	0	1	2	2	2	2	0	0	0	0	181	181	181	182	1	3.130000	-3.195774	1	0.530000			0	27	27	0	1117	1076	0		1			0	0	181	0	0	1.000000	0	0	0	0	0	0	27	1117
MECP2	4204	broad.mit.edu	37	X	153296531	153296531	+	Missense_Mutation	SNP	G	G	A	rs267608519|rs61750225|rs141382970	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:153296531G>A	ENST00000303391.6	-	4	997	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	MECP2_ENST00000453960.2_Missense_Mutation_p.R262C|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	250					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCGGGGCGTTTGATCACC	0.642																																						ENST00000303391.6	0.240000	0.120000	0.210000	0.140000	0.170000	0.181434	0.170000	0.180000																										0				23	GRCh37	CM023415	MECP2	M	rs141382970	c.(748-750)Cgc>Tgc		methyl CpG binding protein 2		G	CYS/ARG,CYS/ARG	0,3835		0,0,0,1632,571	68.0	70.0	70.0		784,748	5.5	1.0	X	dbSNP_134	70	1,6727		0,0,1,2428,1871	no	missense,missense	MECP2	NM_001110792.1,NM_004992.3	180,180	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	262/499,250/487	153296531	1,10562	2203	4300	6503	SO:0001583	missense	4204	3	121410	40				g.chrX:153296531G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.748C>T	chrX.hg19:g.153296531G>A	ENSP00000301948:p.Arg250Cys						MECP2_ENST00000453960.2_Missense_Mutation_p.R262C|MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank	p.R250C	NM_004992.3	NP_004983.1	0	1	1		P51608	MECP2_HUMAN		4	997	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	1	1	hg19	c.748C>T	CCDS14741.1	0	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305397	0.60305	0.0	1.49E-4	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.93019	-3.13;-3.15	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94482	0.7694	10	0.87932	D	0	-14.0476	12.1758	0.54184	0.0:0.0:0.8291:0.1709	.	262;250	P51608-2;P51608	.;MECP2_HUMAN	C	250;250;262;250	ENSP00000301948:R250C;ENSP00000395535:R262C	ENSP00000301948:R250C	R	-	1	0	0	MECP2	152949725	152949725	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	4.846000	0.62860	2.285000	0.76669	0.600000	0.82982	CGC	0.530000		TCGA-FB-A545-01A-11D-A26I-08	0.642	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	1	0	1	2	2	2	2	0	0	0	0	160	160	160	159	1	3.130000	-5.633248	1	0.530000	NM_004992		0	34	33	0	691	677	0		1	0		0	0	160	0	0	1.000000	4.242639e-01	0	0	0	30	0	34	691
