#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
RPS6KA1	6195	broad.mit.edu	37	1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:26883501C>T	ENST00000374168.2	+	13	1148	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R316C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R341C|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R321C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R240C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R240C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	332	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597																																						uc001bmr.1																			0				lung(1)	1						c.(994-996)CGT>TGT		ribosomal protein S6 kinase, 90kDa, polypeptide							216.0	152.0	174.0					1																	26883501		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26883501C>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.994C>T	1.37:g.26883501C>T	ENSP00000363283:p.Arg332Cys					RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240C|RPS6KA1_uc010off.1_Missense_Mutation_p.R316C|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175C	p.R332C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	13	1157	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	332			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.994C>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153999	0.78114	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.49	5.49	0.81192	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.049164	0.85682	D	0.000000	T	0.76227	0.3958	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	P;D;P	0.65323	0.895;0.934;0.595	T	0.81745	-0.0792	10	0.87932	D	0	.	14.1416	0.65322	0.187:0.813:0.0:0.0	.	316;341;332	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	332;321;240;240;316;52;341	ENSP00000363283:R332C;ENSP00000363281:R321C;ENSP00000431651:R240C;ENSP00000363277:R240C;ENSP00000432281:R316C;ENSP00000435412:R341C	ENSP00000363277:R240C	R	+	1	0	RPS6KA1	26756088	0.991000	0.36638	0.988000	0.46212	0.952000	0.60782	2.932000	0.48940	2.590000	0.87494	0.655000	0.94253	CGT		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
SFPQ	6421	broad.mit.edu	37	1	35656550	35656550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:35656550delG	ENST00000357214.5	-	3	1162	c.1064delC	c.(1063-1065)acafs	p.T355fs		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	355	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTCATGGGTGTATCATCCAG	0.438			T	TFE3	papillary renal cell																																	uc001bys.2				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8						c.(1063-1065)ACAfs		splicing factor proline/glutamine rich							52.0	53.0	53.0					1																	35656550		2203	4300	6503	SO:0001589	frameshift_variant	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding	g.chr1:35656550delG	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1064delC	1.37:g.35656550delG	ENSP00000349748:p.Thr355fs					SFPQ_uc001byr.2_5'Flank	p.T355fs	NM_005066	NP_005057	P23246	SFPQ_HUMAN			3	1157	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	355			RRM 1.		P30808|Q5SZ71	Frame_Shift_Del	DEL	ENST00000357214.5	37	c.1064delC	CCDS388.1																																																																																				0.438	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
CLDN19	149461	broad.mit.edu	37	1	43201615	43201615	+	Missense_Mutation	SNP	G	G	A	rs531931336	byFrequency	TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:43201615G>A	ENST00000296387.1	-	4	750	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CLDN19_ENST00000372539.3_Missense_Mutation_p.P187L|CLDN19_ENST00000539749.1_Missense_Mutation_p.R159W	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	187					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGCTCCGGGCATGTGCA	0.677													g|||	2	0.000399361	0.0	0.0	5008	,	,		16487	0.0		0.002	False		,,,				2504	0.0					uc001cht.1																			0					0						c.(559-561)CCG>CTG		claudin 19 isoform a																																				SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43201615G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.560C>T	1.37:g.43201615G>A	ENSP00000296387:p.Pro187Leu					CLDN19_uc001chu.2_Missense_Mutation_p.P187L|CLDN19_uc010ojv.1_Missense_Mutation_p.R159W	p.P187L	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN			4	751	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	187			Cytoplasmic (Potential).		B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.560C>T	CCDS471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.14|17.14	3.312395|3.312395	0.60414|0.60414	.|.	.|.	ENSG00000164007|ENSG00000164007	ENST00000296387;ENST00000372539|ENST00000539749	D;D|D	0.91011|0.87256	-2.77;-2.76|-2.23	4.31|4.31	3.39|3.39	0.38822|0.38822	.|.	0.111323|.	0.64402|.	D|.	0.000006|.	T|T	0.75997|0.75997	0.3926|0.3926	N|N	0.08118|0.08118	0|0	0.44352|0.44352	D|D	0.997241|0.997241	D;D|D	0.65815|0.56968	0.995;0.991|0.978	P;P|B	0.55303|0.43916	0.773;0.598|0.436	T|T	0.78819|0.78819	-0.2054|-0.2054	10|9	0.62326|0.87932	D|D	0.03|0	.|.	11.416|11.416	0.49951|0.49951	0.0:0.0:0.8187:0.1813|0.0:0.0:0.8187:0.1813	.|.	187;187|159	Q8N6F1-2;Q8N6F1|F5H5P9	.;CLD19_HUMAN|.	L|W	187|159	ENSP00000296387:P187L;ENSP00000361617:P187L|ENSP00000443229:R159W	ENSP00000296387:P187L|ENSP00000443229:R159W	P|R	-|-	2|1	0|2	CLDN19|CLDN19	42974202|42974202	1.000000|1.000000	0.71417|0.71417	0.606000|0.606000	0.28943|0.28943	0.630000|0.630000	0.37929|0.37929	6.114000|6.114000	0.71560|0.71560	1.024000|1.024000	0.39682|0.39682	0.457000|0.457000	0.33378|0.33378	CCG|CGG		0.677	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960	
CLCA1	1179	broad.mit.edu	37	1	86952277	86952277	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:86952277G>A	ENST00000234701.3	+	8	1374	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CLCA1_ENST00000394711.1_Silent_p.G341G			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	341	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGAGCTGGGGTCCTGGGTTG	0.478																																						uc001dlt.2																			0				ovary(1)	1						c.(1021-1023)GGG>GGA		chloride channel accessory 1 precursor							133.0	124.0	127.0					1																	86952277		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86952277G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1023G>A	1.37:g.86952277G>A						CLCA1_uc001dls.1_Silent_p.G280G	p.G341G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1152	+		Lung NSC(277;0.239)	341			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1023G>A	CCDS709.1																																																																																				0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA4	22802	broad.mit.edu	37	1	87045055	87045055	+	Missense_Mutation	SNP	C	C	T	rs372729622		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:87045055C>T	ENST00000370563.3	+	13	2183	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	714					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAAGCAAACCCGCCAAGACCT	0.428																																						uc009wcs.2																			0				ovary(2)	2						c.(2140-2142)CCG>CTG		chloride channel accessory 4		C	LEU/PRO	1,3735		0,1,1867	65.0	65.0	65.0		2141	4.6	0.7	1		65	0,8208		0,0,4104	no	missense	CLCA4	NM_012128.3	98	0,1,5971	TT,TC,CC		0.0,0.0268,0.0084	possibly-damaging	714/920	87045055	1,11943	1868	4104	5972	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87045055C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2141C>T	1.37:g.87045055C>T	ENSP00000359594:p.Pro714Leu					CLCA4_uc009wct.2_Missense_Mutation_p.P477L|CLCA4_uc009wcu.2_Missense_Mutation_p.P534L	p.P714L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	13	2185	+		Lung NSC(277;0.238)	714					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.2141C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196665	0.79015	2.68E-4	0.0	ENSG00000016602	ENST00000370563	T	0.03004	4.08	5.54	4.61	0.57282	.	0.358156	0.24271	N	0.039995	T	0.10809	0.0264	M	0.83603	2.65	0.46396	D	0.999025	D;D	0.76494	0.999;0.997	P;P	0.61722	0.893;0.893	T	0.01334	-1.1382	10	0.72032	D	0.01	-7.9176	15.2312	0.73390	0.1418:0.8582:0.0:0.0	.	266;714	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	L	714	ENSP00000359594:P714L	ENSP00000359594:P714L	P	+	2	0	CLCA4	86817643	0.369000	0.25039	0.672000	0.29872	0.977000	0.68977	1.558000	0.36309	1.285000	0.44548	0.655000	0.94253	CCG		0.428	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
SPTA1	6708	broad.mit.edu	37	1	158651339	158651339	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:158651339A>G	ENST00000368147.4	-	4	689	c.509T>C	c.(508-510)aTc>aCc	p.I170T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	170					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACTCTAAGATGTCAGCACA	0.537																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(508-510)ATC>ACC		spectrin, alpha, erythrocytic 1							270.0	270.0	270.0					1																	158651339		2031	4185	6216	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651339A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.509T>C	1.37:g.158651339A>G	ENSP00000357129:p.Ile170Thr						p.I170T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	708	-	all_hematologic(112;0.0378)		170			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.509T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816592	0.70912	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52754	0.65;0.65	5.15	5.15	0.70609	.	.	.	.	.	T	0.41465	0.1160	L	0.59436	1.845	0.44462	D	0.997396	P	0.41569	0.755	P	0.46208	0.507	T	0.43540	-0.9385	9	0.52906	T	0.07	.	13.9639	0.64196	1.0:0.0:0.0:0.0	.	170	P02549	SPTA1_HUMAN	T	170	ENSP00000357130:I170T;ENSP00000357129:I170T	ENSP00000357129:I170T	I	-	2	0	SPTA1	156917963	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.515000	0.67049	2.155000	0.67459	0.460000	0.39030	ATC		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
PTPN14	5784	broad.mit.edu	37	1	214575057	214575057	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:214575057C>T	ENST00000366956.5	-	7	834	c.640G>A	c.(640-642)Gga>Aga	p.G214R	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	214	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCCAAATCCATCCAAACGT	0.423																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(640-642)GGA>AGA		protein tyrosine phosphatase, non-receptor type							194.0	191.0	192.0					1																	214575057		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214575057C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.640G>A	1.37:g.214575057C>T	ENSP00000355923:p.Gly214Arg					PTPN14_uc010pty.1_Missense_Mutation_p.G115R	p.G214R	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	7	911	-			214			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.640G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660212	0.88154	.	.	ENSG00000152104	ENST00000366956	D	0.82344	-1.6	5.28	5.28	0.74379	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92443	0.5963	10	0.66056	D	0.02	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	214	Q15678	PTN14_HUMAN	R	214	ENSP00000355923:G214R	ENSP00000355923:G214R	G	-	1	0	PTPN14	212641680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.206000	0.72154	2.469000	0.83416	0.557000	0.71058	GGA		0.423	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
SIPA1L2	57568	broad.mit.edu	37	1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:232619633G>A	ENST00000366630.1	-	5	2244	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T629M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	629	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.T629M(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGTCCCGCCGTCTCATTGTT	0.448																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1885-1887)ACG>ATG		signal-induced proliferation-associated 1 like							111.0	106.0	108.0					1																	232619633		1915	4155	6070	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619633G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1886C>T	1.37:g.232619633G>A	ENSP00000355589:p.Thr629Met						p.T629M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			4	2044	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	629			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1886C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683403	0.47991	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93953	-3.32;-3.32	5.65	5.65	0.86999	Rap/ran-GAP (2);	0.098719	0.64402	D	0.000002	D	0.90896	0.7139	L	0.55213	1.73	0.42362	D	0.992411	B	0.19583	0.037	B	0.17098	0.017	D	0.86566	0.1844	10	0.42905	T	0.14	-23.8241	13.5198	0.61561	0.0795:0.0:0.9205:0.0	.	629	Q9P2F8	SI1L2_HUMAN	M	629	ENSP00000355589:T629M;ENSP00000262861:T629M	ENSP00000262861:T629M	T	-	2	0	SIPA1L2	230686256	0.996000	0.38824	0.982000	0.44146	0.987000	0.75469	2.590000	0.46154	2.941000	0.99782	0.655000	0.94253	ACG		0.448	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
OR2M2	391194	broad.mit.edu	37	1	248344248	248344248	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:248344248T>A	ENST00000359682.2	+	1	961	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTTATGTTTTGCTGTTTGC	0.373																																						uc010pzf.1																			0				ovary(3)|skin(1)	4						c.(961-963)TTG>ATG		olfactory receptor, family 2, subfamily M,							210.0	217.0	215.0					1																	248344248		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344248T>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.961T>A	1.37:g.248344248T>A	ENSP00000352710:p.Leu321Met						p.L321M	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	961	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		321			Cytoplasmic (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.961T>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	7.361	0.624804	0.14193	.	.	ENSG00000198601	ENST00000359682	T	0.21543	2.0	1.37	1.37	0.22104	.	.	.	.	.	T	0.12050	0.0293	L	0.27053	0.805	0.09310	N	1	B	0.31910	0.346	B	0.23275	0.045	T	0.19353	-1.0308	9	0.49607	T	0.09	.	6.5093	0.22212	0.0:0.0:0.0:1.0	.	321	Q96R28	OR2M2_HUMAN	M	321	ENSP00000352710:L321M	ENSP00000352710:L321M	L	+	1	2	OR2M2	246410871	0.149000	0.22717	0.002000	0.10522	0.004000	0.04260	-0.993000	0.03720	0.616000	0.30141	0.155000	0.16302	TTG		0.373	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
KNDC1	85442	broad.mit.edu	37	10	135020649	135020649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr10:135020649C>A	ENST00000304613.3	+	20	3609	c.3588C>A	c.(3586-3588)taC>taA	p.Y1196*	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.Y1198*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1196					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTCATGTACGCGGAACGCT	0.657																																						uc001llz.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3586-3588)TAC>TAA		kinase non-catalytic C-lobe domain (KIND)							20.0	20.0	20.0					10																	135020649		2176	4278	6454	SO:0001587	stop_gained	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020649C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3588C>A	10.37:g.135020649C>A	ENSP00000304437:p.Tyr1196*					KNDC1_uc001lma.1_3'UTR	p.Y1196*	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	20	3589	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1196					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	37	c.3588C>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450399	0.96205	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	.	.	.	3.77	-5.71	0.02413	.	0.250771	0.32918	U	0.005482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2735	13.5826	0.61911	0.0:0.1882:0.0:0.8118	.	.	.	.	X	1196;1198	.	ENSP00000304437:Y1196X	Y	+	3	2	KNDC1	134870639	0.551000	0.26497	0.001000	0.08648	0.033000	0.12548	-0.557000	0.05985	-1.289000	0.02375	-0.496000	0.04628	TAC		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
MRGPRX1	259249	broad.mit.edu	37	11	18955702	18955702	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr11:18955702C>T	ENST00000302797.3	-	1	854	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	210					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507																																						uc001mpg.2																			0				pancreas(2)|central_nervous_system(1)	3						c.(628-630)CCG>CCA		MAS-related GPR, member X1							102.0	86.0	91.0					11																	18955702		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955702C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.630G>A	11.37:g.18955702C>T							p.P210P	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	848	-			210			Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.630G>A	CCDS7846.1																																																																																				0.507	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
PIK3C2G	5288	broad.mit.edu	37	12	18435195	18435195	+	Silent	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:18435195A>G	ENST00000266497.5	+	1	218	c.180A>G	c.(178-180)gaA>gaG	p.E60E	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Silent_p.E60E|PIK3C2G_ENST00000538779.1_Silent_p.E60E|PIK3C2G_ENST00000535651.1_Silent_p.E60E			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	60					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATTGATGAAAACACCTTTT	0.398																																						uc001rdt.2																			0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(178-180)GAA>GAG		phosphoinositide-3-kinase, class 2 gamma							81.0	78.0	79.0					12																	18435195		1867	4093	5960	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435195A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.180A>G	12.37:g.18435195A>G						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.E60E|PIK3C2G_uc010sic.1_5'UTR	p.E60E	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	296	+		Hepatocellular(102;0.194)	60					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.180A>G	CCDS44839.1																																																																																				0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
GLI1	2735	broad.mit.edu	37	12	57864141	57864141	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:57864141G>A	ENST00000228682.2	+	12	1709	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	GLI1_ENST00000546141.1_Missense_Mutation_p.E499K|GLI1_ENST00000543426.1_Missense_Mutation_p.E412K	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	540					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTCTCTTGAACGCCGCAG	0.612																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1618-1620)GAA>AAA		GLI family zinc finger 1 isoform 1							79.0	82.0	81.0					12																	57864141		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864141G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1618G>A	12.37:g.57864141G>A	ENSP00000228682:p.Glu540Lys					GLI1_uc009zpq.2_Missense_Mutation_p.E412K	p.E540K	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1696	+			540					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1618G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987282	0.53934	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.13901	2.65;2.55;2.63;2.63	3.95	3.95	0.45737	.	0.000000	0.49916	D	0.000124	T	0.15132	0.0365	L	0.48362	1.52	0.23287	N	0.997972	B	0.06786	0.001	B	0.01281	0.0	T	0.16364	-1.0405	10	0.66056	D	0.02	.	15.9719	0.80027	0.0:0.0:1.0:0.0	.	540	P08151	GLI1_HUMAN	K	412;540;499;499	ENSP00000437607:E412K;ENSP00000228682:E540K;ENSP00000441006:E499K;ENSP00000434408:E499K	ENSP00000228682:E540K	E	+	1	0	GLI1	56150408	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.191000	0.77763	2.483000	0.83821	0.561000	0.74099	GAA		0.612	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
TRHDE	29953	broad.mit.edu	37	12	72667155	72667155	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:72667155G>A	ENST00000261180.4	+	1	693	c.597G>A	c.(595-597)gcG>gcA	p.A199A	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	199					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGGACCGGGCGTTCGGGGCTG	0.607																																						uc010stv.1																			0					0						c.(-447--443)AACGC>AATGC		Homo sapiens thyrotropin-releasing hormone degrading enzyme, mRNA (cDNA clone IMAGE:4992272).							48.0	52.0	51.0					12																	72667155		2203	4300	6503	SO:0001819	synonymous_variant	283392							g.chr12:72667155G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.597G>A	12.37:g.72667155G>A						TRHDE_uc001sxa.2_Silent_p.A199A		NR_026836						1	135	-								A5PL19|Q6UWJ4	Translation_Start_Site	SNP	ENST00000261180.4	37	c.-445C>T	CCDS9004.1																																																																																				0.607	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
UHRF1BP1L	23074	broad.mit.edu	37	12	100433500	100433500	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:100433500G>A	ENST00000279907.7	-	20	4361	c.4149C>T	c.(4147-4149)acC>acT	p.T1383T	UHRF1BP1L_ENST00000545232.2_Silent_p.T1033T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1383										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTCCACTGGTCAGCAGCA	0.428																																						uc001tgq.2																			0				ovary(2)	2						c.(4147-4149)ACC>ACT		UHRF1 (ICBP90) binding protein 1-like isoform a							139.0	113.0	121.0					12																	100433500		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100433500G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4149C>T	12.37:g.100433500G>A						UHRF1BP1L_uc001tgp.2_Silent_p.T1033T	p.T1383T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			20	4378	-			1383					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.4149C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	2.535	-0.307578	0.05458	.	.	ENSG00000111647	ENST00000548712	.	.	.	5.08	-0.0491	0.13836	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-0.9371	1.3189	0.02112	0.2438:0.1561:0.4404:0.1598	.	.	.	.	L	144	.	.	P	-	2	0	UHRF1BP1L	98957631	0.000000	0.05858	0.009000	0.14445	0.588000	0.36517	-0.612000	0.05616	0.166000	0.19597	-0.150000	0.13652	CCA		0.428	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
DNAH10	196385	broad.mit.edu	37	12	124298408	124298408	+	Missense_Mutation	SNP	A	A	C	rs372341879		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:124298408A>C	ENST00000409039.3	+	20	3400	c.3375A>C	c.(3373-3375)agA>agC	p.R1125S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1125	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAACTCAGATATAGGGACG	0.383																																						uc001uft.3																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3373-3375)AGA>AGC		dynein, axonemal, heavy chain 10							78.0	76.0	77.0					12																	124298408		1984	4194	6178	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124298408A>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3375A>C	12.37:g.124298408A>C	ENSP00000386770:p.Arg1125Ser					DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	p.R1125S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	20	3400	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1125			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3375A>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	8.201	0.798169	0.16397	.	.	ENSG00000197653	ENST00000409039	T	0.21361	2.01	5.62	-6.88	0.01665	.	.	.	.	.	T	0.19005	0.0456	L	0.58669	1.825	0.09310	N	1	B	0.18310	0.027	B	0.17098	0.017	T	0.37220	-0.9715	9	0.13470	T	0.59	.	16.6783	0.85285	0.8484:0.0:0.1516:0.0	.	1125	Q8IVF4	DYH10_HUMAN	S	1125	ENSP00000386770:R1125S	ENSP00000386770:R1125S	R	+	3	2	DNAH10	122864361	0.012000	0.17670	0.009000	0.14445	0.046000	0.14306	-0.556000	0.05992	-1.339000	0.02230	-0.256000	0.11100	AGA		0.383	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
RB1	5925	broad.mit.edu	37	13	49039399	49039399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr13:49039399C>A	ENST00000267163.4	+	23	2522	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	795	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTCCTAGTTCACCCTTACGG	0.393		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2383-2385)TCA>TAA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						135.0	138.0	137.0					13																	49039399		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039399C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2384C>A	13.37:g.49039399C>A	ENSP00000267163:p.Ser795*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S795*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2550	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	795			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2384C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.116897	0.98662	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6784	20.1935	0.98237	0.0:1.0:0.0:0.0	.	.	.	.	X	774;795	.	ENSP00000267163:S795X	S	+	2	0	RB1	47937400	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	7.280000	0.78610	2.779000	0.95612	0.591000	0.81541	TCA		0.393	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
AHNAK2	113146	broad.mit.edu	37	14	105414185	105414185	+	Missense_Mutation	SNP	G	G	A	rs374626844		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr14:105414185G>A	ENST00000333244.5	-	7	7722	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2535						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.667																																						uc010axc.1																			0				ovary(1)	1						c.(7603-7605)CCC>TCC		AHNAK nucleoprotein 2		G	SER/PRO	1,3815		0,1,1907	113.0	127.0	123.0		7603	-2.9	0.0	14		123	0,8210		0,0,4105	no	missense	AHNAK2	NM_138420.2	74	0,1,6012	AA,AG,GG		0.0,0.0262,0.0083	benign	2535/5796	105414185	1,12025	1908	4105	6013	SO:0001583	missense	113146					nucleus		g.chr14:105414185G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7603C>T	14.37:g.105414185G>A	ENSP00000353114:p.Pro2535Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.P2435S	p.P2535S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7723	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2535					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7603C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	4.672	0.124877	0.08931	2.62E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00711	5.8	3.7	-2.91	0.05631	.	.	.	.	.	T	0.00608	0.0020	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43637	-0.9379	9	0.09590	T	0.72	.	8.1398	0.31076	0.1635:0.5172:0.3193:0.0	.	2535	Q8IVF2	AHNK2_HUMAN	S	2535	ENSP00000353114:P2535S	ENSP00000353114:P2535S	P	-	1	0	AHNAK2	104485230	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	-1.262000	0.02852	-0.225000	0.09913	-0.667000	0.03836	CCC		0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
CEP152	22995	broad.mit.edu	37	15	49030645	49030645	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:49030645G>A	ENST00000380950.2	-	27	5121	c.4934C>T	c.(4933-4935)aCg>aTg	p.T1645M	CEP152_ENST00000399334.3_Missense_Mutation_p.T1589M	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1645					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCAAATACGTGGTTTCTTC	0.383																																						uc001zwy.2																			0				lung(2)	2						c.(4765-4767)ACG>ATG		centrosomal protein 152kDa							191.0	184.0	187.0					15																	49030645		2009	4182	6191	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030645G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4934C>T	15.37:g.49030645G>A	ENSP00000370337:p.Thr1645Met					CEP152_uc001zwz.2_Missense_Mutation_p.T1645M	p.T1589M	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	4800	-		all_lung(180;0.0428)	1589					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4766C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206764	0.09704	.	.	ENSG00000103995	ENST00000399334	T	0.50277	0.75	4.91	-9.82	0.00484	.	1.125920	0.06793	N	0.787327	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.13019	-1.0525	10	0.34782	T	0.22	6.6585	4.6595	0.12636	0.3289:0.0696:0.4066:0.1949	.	1589	O94986	CE152_HUMAN	M	1589	ENSP00000382271:T1589M	ENSP00000382271:T1589M	T	-	2	0	CEP152	46817937	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.666000	0.01963	-2.718000	0.00390	-2.233000	0.00290	ACG		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CERS3	204219	broad.mit.edu	37	15	100996164	100996164	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:100996164C>A	ENST00000394113.1	-	13	1623	c.933G>T	c.(931-933)ttG>ttT	p.L311F	CERS3_ENST00000538112.2_Missense_Mutation_p.L311F|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.L311F			Q8IU89	CERS3_HUMAN	ceramide synthase 3	311	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GAAGGACCTGCAAGATCATGA	0.393																																						uc002bvz.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(931-933)TTG>TTT		LAG1 longevity assurance homolog 3							124.0	115.0	118.0					15																	100996164		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100996164C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.933G>T	15.37:g.100996164C>A	ENSP00000377672:p.Leu311Phe					LASS3_uc002bwa.2_Missense_Mutation_p.L322F|LASS3_uc002bwb.2_Missense_Mutation_p.L311F	p.L311F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		12	1435	-	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		311			Helical; (Potential).|TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.933G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972220	0.53614	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.93488	-3.23;-3.23	5.66	-8.75	0.00834	TRAM/LAG1/CLN8 homology domain (3);	0.072732	0.56097	D	0.000026	D	0.95636	0.8581	H	0.94503	3.545	0.50039	D	0.999847	D	0.89917	1.0	D	0.91635	0.999	D	0.91540	0.5249	10	0.87932	D	0	-11.6724	5.305	0.15799	0.1238:0.171:0.0934:0.6118	.	311	Q8IU89	CERS3_HUMAN	F	311;322;311	ENSP00000284382:L311F;ENSP00000437640:L311F	ENSP00000284382:L311F	L	-	3	2	CERS3	98813687	0.007000	0.16637	0.076000	0.20297	0.642000	0.38348	-2.925000	0.00691	-1.663000	0.01481	-0.768000	0.03414	TTG		0.393	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																						uc010usj.1																			0											c.(541-543)GAC>GAT		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102294715C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T						uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank|uc002bzr.2_5'Flank	p.D181D							5	602	+									Silent	SNP	ENST00000561463.1	37	c.543C>T																																																																																					0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.2																			10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
ZP2	7783	broad.mit.edu	37	16	21216830	21216830	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:21216830C>T	ENST00000574002.1	-	8	1086	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	ZP2_ENST00000219593.4_Missense_Mutation_p.A202T|ZP2_ENST00000574091.1_Missense_Mutation_p.A202T|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	202					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCTTCATGGCCTCTGGCAGG	0.493																																						uc002dii.2																			0				central_nervous_system(2)|ovary(1)	3						c.(604-606)GCC>ACC		zona pellucida glycoprotein 2 preproprotein							174.0	151.0	159.0					16																	21216830		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21216830C>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.604G>A	16.37:g.21216830C>T	ENSP00000460971:p.Ala202Thr					ZP2_uc010bwn.1_Missense_Mutation_p.A241T|ZP2_uc010bwo.2_Missense_Mutation_p.A241T	p.A202T	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	7	604	-			202			Extracellular (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.604G>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319780	0.81469	.	.	ENSG00000103310	ENST00000219593	T	0.21543	2.0	5.32	5.32	0.75619	.	0.070845	0.64402	D	0.000018	T	0.48732	0.1516	M	0.81802	2.56	0.34990	D	0.754941	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.68943	0.961;0.935;0.935	T	0.64364	-0.6425	10	0.72032	D	0.01	-15.3813	16.1395	0.81513	0.0:1.0:0.0:0.0	.	202;202;202	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	T	202	ENSP00000219593:A202T	ENSP00000219593:A202T	A	-	1	0	ZP2	21124331	1.000000	0.71417	0.093000	0.20910	0.035000	0.12851	5.131000	0.64751	2.489000	0.83994	0.563000	0.77884	GCC		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
TAOK2	9344	broad.mit.edu	37	16	29990328	29990328	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:29990328C>T	ENST00000308893.4	+	6	1429	c.386C>T	c.(385-387)gCa>gTa	p.A129V	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.A129V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A129V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTAGAGATCGCAGCTGTGACC	0.577																																						uc002dva.1																			0				ovary(1)	1						c.(385-387)GCA>GTA		TAO kinase 2 isoform 2							101.0	97.0	99.0					16																	29990328		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29990328C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.386C>T	16.37:g.29990328C>T	ENSP00000310094:p.Ala129Val					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.A129V|TAOK2_uc002dvc.1_Missense_Mutation_p.A129V|TAOK2_uc010bzm.1_Missense_Mutation_p.A129V|TAOK2_uc002dvd.1_5'Flank	p.A129V	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			6	1169	+			129			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.386C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829676	0.91036	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.23950	1.88;1.88;1.88	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058466	0.64402	D	0.000002	T	0.34629	0.0904	M	0.62209	1.925	0.80722	D	1	D;B;P;D	0.60575	0.988;0.261;0.503;0.969	P;B;B;P	0.45881	0.496;0.086;0.361;0.496	T	0.06570	-1.0819	9	.	.	.	.	18.3871	0.90470	0.0:1.0:0.0:0.0	.	313;129;129;129	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	V	129	ENSP00000310094:A129V;ENSP00000440336:A129V;ENSP00000279394:A129V	.	A	+	2	0	TAOK2	29897829	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.776000	0.85560	2.708000	0.92522	0.467000	0.42956	GCA		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							152.0	112.0	126.0					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>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.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu	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_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.2_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L	p.R248L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	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	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
COPS3	8533	broad.mit.edu	37	17	17163668	17163668	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:17163668C>A	ENST00000268717.5	-	8	989	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	COPS3_ENST00000539941.2_Missense_Mutation_p.V275L|COPS3_ENST00000439936.2_Intron	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	295	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATTGCTTCACCAGCCCCATG	0.488																																						uc002grd.2																			0				skin(1)	1						c.(883-885)GTG>TTG		COP9 constitutive photomorphogenic homolog							208.0	171.0	184.0					17																	17163668		2203	4300	6503	SO:0001583	missense	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17163668C>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.883G>T	17.37:g.17163668C>A	ENSP00000268717:p.Val295Leu					COPS3_uc010vwv.1_Missense_Mutation_p.V275L|COPS3_uc010vww.1_Missense_Mutation_p.V165L	p.V295L	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN			8	974	-			295			PCI.		B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.883G>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477444	0.96291	.	.	ENSG00000141030	ENST00000268717;ENST00000539941	T;T	0.27720	1.65;1.65	5.47	5.47	0.80525	Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.80508	2.5	0.80722	D	1	D	0.57899	0.981	D	0.66084	0.941	T	0.62282	-0.6887	10	0.62326	D	0.03	-26.0292	18.3076	0.90188	0.0:1.0:0.0:0.0	.	295	Q9UNS2	CSN3_HUMAN	L	295;275	ENSP00000268717:V295L;ENSP00000437606:V275L	ENSP00000268717:V295L	V	-	1	0	COPS3	17104393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.564000	0.86499	0.655000	0.94253	GTG		0.488	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T	rs397514641		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:29497003C>T	ENST00000358273.4	+	5	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R192*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R192*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	192					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R192*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	p.R192*(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(3)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM000774	NF1	M		c.(574-576)CGA>TGA		neurofibromin isoform 1							73.0	74.0	74.0					17																	29497003		2203	4298	6501	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29497003C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.574C>T	17.37:g.29497003C>T	ENSP00000351015:p.Arg192*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Nonsense_Mutation_p.R192*|NF1_uc002hgf.1_Nonsense_Mutation_p.R192*|NF1_uc002hgh.2_Nonsense_Mutation_p.R192*|NF1_uc010csn.1_Intron	p.R192*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	907	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	192					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.574C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711613	0.96821	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.59	3.58	0.41010	.	0.064020	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.613	0.39674	0.2526:0.6804:0.0:0.067	.	.	.	.	X	192	.	ENSP00000348498:R192X	R	+	1	2	NF1	26521129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.602000	0.46257	0.712000	0.32039	0.591000	0.81541	CGA		0.284	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
CCL4	6351	broad.mit.edu	37	17	34432024	34432024	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:34432024G>A	ENST00000250151.4	+	2	496	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CCL4_ENST00000394495.1_Intron	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	60					cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCTCCCAGCCAGCTGTGG	0.572																																					Colon(139;824 1752 21188 21615 24765)	uc002hkw.1																			0					0						c.(178-180)CAG>CAA		chemokine C-C motif ligand 4 isoform 1							45.0	42.0	43.0					17																	34432024		2203	4300	6503	SO:0001819	synonymous_variant	6351				cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	g.chr17:34432024G>A	M23502	CCDS11308.1	17q21-q23	2014-05-06	2002-08-22	2002-08-23	ENSG00000129277	ENSG00000275302		"""Chemokine ligands"", ""Endogenous ligands"""	10630	protein-coding gene	gene with protein product		182284	"""small inducible cytokine A4 (homologous to mouse Mip-1b)"""	LAG1, SCYA4		1972563	Standard	NM_002984		Approved	MIP-1-beta, Act-2, AT744.1	uc002hkw.1	P13236	OTTHUMG00000188414	ENST00000250151.4:c.180G>A	17.37:g.34432024G>A						CCL4_uc002hkx.1_Intron	p.Q60Q	NM_002984	NP_002975	P13236	CCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	259	+		Ovarian(249;0.17)	60					P22617|Q13704|Q3SXL8|Q6FGI8	Silent	SNP	ENST00000250151.4	37	c.180G>A	CCDS11308.1																																																																																				0.572	CCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256592.2	NM_002984	
GH1	2688	broad.mit.edu	37	17	61995751	61995751	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:61995751G>A	ENST00000323322.5	-	2	168	c.126C>T	c.(124-126)cgC>cgT	p.R42R	GH1_ENST00000458650.2_Silent_p.R42R|GH1_ENST00000342364.4_Silent_p.R42R|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Silent_p.R42R	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	42			R -> C (in IGHD1B; reduced secretion). {ECO:0000269|PubMed:12655557}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.R42R(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GACGATGGGCGCGGAGCATAG	0.582																																						uc002jdj.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(124-126)CGC>CGT		growth hormone 1 isoform 1							161.0	169.0	166.0					17																	61995751		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995751G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.126C>T	17.37:g.61995751G>A						GH1_uc002jdi.2_Silent_p.R42R|GH1_uc002jdk.2_Silent_p.R42R|GH1_uc002jdl.2_Silent_p.R42R|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.R42R	p.R42R	NM_000515	NP_000506	P01241	SOMA_HUMAN			2	188	-			42		R -> C (in IGHD1B; reduced secretion).			A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.126C>T	CCDS11653.1																																																																																				0.582	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	
LAMA1	284217	broad.mit.edu	37	18	7009321	7009321	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:7009321C>T	ENST00000389658.3	-	27	4011	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1306	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATCCTCTCGCGTGACAGGTT	0.403																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3916-3918)ACG>ACA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105.0	100.0	102.0					18																	7009321		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7009321C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3918G>A	18.37:g.7009321C>T						LAMA1_uc010wzj.1_Silent_p.T782T	p.T1306T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			27	4012	-		Colorectal(10;0.172)	1306			Laminin IV type A 2.			Silent	SNP	ENST00000389658.3	37	c.3918G>A	CCDS32787.1																																																																																				0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ONECUT2	9480	broad.mit.edu	37	18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:55143729G>A	ENST00000491143.2	+	2	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	430					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R430H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517																																						uc002lgo.2																			2	Substitution - Missense(2)	p.R430H(1)	ovary(1)|endometrium(1)	ovary(2)|central_nervous_system(1)	3						c.(1288-1290)CGC>CAC		one cut domain, family member 2							52.0	58.0	56.0					18																	55143729		2019	4199	6218	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143729G>A	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1289G>A	18.37:g.55143729G>A	ENSP00000419185:p.Arg430His						p.R430H	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1321	+		Colorectal(73;0.234)	430			Homeobox.			Missense_Mutation	SNP	ENST00000491143.2	37	c.1289G>A	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175033	0.94807	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91589	0.5285	9	0.72032	D	0.01	-21.7544	20.1323	0.98003	0.0:0.0:1.0:0.0	.	430	O95948	ONEC2_HUMAN	H	411;430	.	ENSP00000262095:R430H	R	+	2	0	ONECUT2	53294727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC		0.517	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3		
MATK	4145	broad.mit.edu	37	19	3779708	3779708	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:3779708G>A	ENST00000310132.6	-	9	1228	c.830C>T	c.(829-831)aCg>aTg	p.T277M	MATK_ENST00000395040.2_Missense_Mutation_p.T236M|MATK_ENST00000585778.1_Missense_Mutation_p.T277M|MATK_ENST00000395045.2_Missense_Mutation_p.T278M	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGACGGCCGTCTCGTCCAG	0.677																																						uc002lyt.2																			0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(829-831)ACG>ATG		megakaryocyte-associated tyrosine kinase isoform							59.0	56.0	57.0					19																	3779708		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779708G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.830C>T	19.37:g.3779708G>A	ENSP00000308734:p.Thr277Met					MATK_uc002lyv.2_Missense_Mutation_p.T278M|MATK_uc002lyu.2_Missense_Mutation_p.T236M|MATK_uc010dtq.2_Missense_Mutation_p.T277M	p.T277M	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1230	-		Hepatocellular(1079;0.137)	277			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.830C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900324	0.52227	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.61859	0.07;0.07;0.07	4.07	4.07	0.47477	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	U	0.000000	T	0.50120	0.1597	N	0.01417	-0.88	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.71255	-0.4647	10	0.87932	D	0	-27.3413	15.6441	0.77033	0.0:0.0:1.0:0.0	.	277;278;277	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	M	278;277;236	ENSP00000378485:T278M;ENSP00000308734:T277M;ENSP00000378481:T236M	ENSP00000308734:T277M	T	-	2	0	MATK	3730708	1.000000	0.71417	0.996000	0.52242	0.127000	0.20565	9.142000	0.94618	2.004000	0.58718	0.306000	0.20318	ACG		0.677	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355	
TUBB4A	10382	broad.mit.edu	37	19	6495224	6495224	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:6495224G>A	ENST00000264071.2	-	4	1657	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	TUBB4A_ENST00000540257.1_Missense_Mutation_p.T429M|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	429					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CTCCTCGGCCGTGGCGTCCTG	0.622																																						uc002mfg.1																			0				ovary(2)	2						c.(1285-1287)ACG>ATG		tubulin, beta 4							80.0	74.0	76.0					19																	6495224		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495224G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1286C>T	19.37:g.6495224G>A	ENSP00000264071:p.Thr429Met					TUBB4_uc002mff.1_Missense_Mutation_p.T357M|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.T429M	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1393	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	429					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1286C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378438	0.24944	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.72051	-0.62;-0.62	3.13	3.13	0.36017	.	0.000000	0.64402	U	0.000002	T	0.79100	0.4389	M	0.88842	2.985	0.53005	D	0.999965	D	0.57257	0.979	P	0.49085	0.6	D	0.84767	0.0765	10	0.87932	D	0	.	13.3769	0.60743	0.0:0.0:1.0:0.0	.	429	P04350	TBB4A_HUMAN	M	429;429;347	ENSP00000264071:T429M;ENSP00000443590:T429M	ENSP00000264071:T429M	T	-	2	0	TUBB4	6446224	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	9.645000	0.98471	1.473000	0.48159	0.306000	0.20318	ACG		0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
ZNF536	9745	broad.mit.edu	37	19	31039823	31039823	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:31039823C>T	ENST00000355537.3	+	4	3444	c.3297C>T	c.(3295-3297)caC>caT	p.H1099H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1099					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACCGGCCACGTGGACCCTG	0.542																																						uc002nsu.1																			0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3295-3297)CAC>CAT		zinc finger protein 536							84.0	96.0	92.0					19																	31039823		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039823C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3297C>T	19.37:g.31039823C>T						ZNF536_uc010edd.1_Silent_p.H1099H	p.H1099H	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3435	+	Esophageal squamous(110;0.0834)		1099					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3297C>T	CCDS32984.1																																																																																				0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF181	339318	broad.mit.edu	37	19	35232341	35232341	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:35232341G>A	ENST00000492450.1	+	4	1144	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	ZNF181_ENST00000459757.2_Missense_Mutation_p.R351H|ZNF181_ENST00000392232.3_Missense_Mutation_p.R396H			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGAGTGTCGTATATGTGGA	0.373																																						uc002nvu.3																			0				ovary(1)	1						c.(1054-1056)CGT>CAT		zinc finger protein 181 isoform 1							65.0	64.0	64.0					19																	35232341		2203	4299	6502	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232341G>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1055G>A	19.37:g.35232341G>A	ENSP00000420727:p.Arg352His					ZNF181_uc010xsa.1_Missense_Mutation_p.R351H|ZNF181_uc010xsb.1_Missense_Mutation_p.R351H|ZNF181_uc010xsc.1_Missense_Mutation_p.R287H	p.R352H	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1518	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		352			C2H2-type 5.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1055G>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109167	0.37242	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.14893	2.47;2.47;2.47	2.99	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.04355	-0.22	0.09310	N	1	B;D	0.76494	0.007;0.999	B;D	0.64042	0.005;0.921	T	0.16988	-1.0384	9	0.59425	D	0.04	.	4.2822	0.10838	0.4082:0.3303:0.2615:0.0	.	351;352	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	H	396;351;352;351	ENSP00000376065:R396H;ENSP00000420727:R352H;ENSP00000419435:R351H	ENSP00000376065:R396H	R	+	2	0	ZNF181	39924181	0.000000	0.05858	0.770000	0.31555	0.996000	0.88848	-4.178000	0.00279	-0.496000	0.06650	0.561000	0.74099	CGT		0.373	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	
ZNF345	25850	broad.mit.edu	37	19	37367974	37367974	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:37367974A>G	ENST00000529555.1	+	2	1030	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	ZNF345_ENST00000420450.1_Missense_Mutation_p.Q81R|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.Q81R			Q14585	ZN345_HUMAN	zinc finger protein 345	81					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCGACATCAGCGAATTCAT	0.398																																						uc002oex.2																			0				ovary(1)	1						c.(241-243)CAG>CGG		zinc finger protein 345							106.0	111.0	110.0					19																	37367974		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37367974A>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.242A>G	19.37:g.37367974A>G	ENSP00000431202:p.Gln81Arg					ZNF345_uc002oey.3_Missense_Mutation_p.Q81R|ZNF345_uc002oez.2_Intron	p.Q81R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	620	+	Esophageal squamous(110;0.183)		81			C2H2-type 1.			Missense_Mutation	SNP	ENST00000529555.1	37	c.242A>G	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543028	0.45280	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.07327	3.2;3.2;3.2	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	L	0.28649	0.875	0.20196	N	0.999927	P	0.35628	0.513	B	0.32677	0.15	T	0.31420	-0.9944	8	.	.	.	.	11.6537	0.51304	1.0:0.0:0.0:0.0	.	81	Q14585	ZN345_HUMAN	R	81	ENSP00000431216:Q81R;ENSP00000431202:Q81R;ENSP00000331120:Q81R	.	Q	+	2	0	ZNF345	42059814	0.059000	0.20769	1.000000	0.80357	0.999000	0.98932	3.452000	0.52971	1.902000	0.55061	0.533000	0.62120	CAG		0.398	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
SLC17A7	57030	broad.mit.edu	37	19	49937876	49937876	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:49937876G>A	ENST00000221485.3	-	5	791	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SLC17A7_ENST00000600601.1_Missense_Mutation_p.A140V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.A195V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	207					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCTGTCGTCGCCAGGCGACT	0.602																																						uc002pnp.2																			0		p.A207A(1)		ovary(1)|pancreas(1)|skin(1)	3						c.(619-621)GCG>GTG		solute carrier family 17, member 7							57.0	58.0	58.0					19																	49937876		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937876G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.620C>T	19.37:g.49937876G>A	ENSP00000221485:p.Ala207Val					SLC17A7_uc002pnq.1_Missense_Mutation_p.A140V|SLC17A7_uc002pno.2_5'UTR	p.A207V	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	5	792	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	207			Cytoplasmic (Potential).		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.620C>T	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280870	0.80692	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55930	0.49;0.49	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000022	T	0.44932	0.1317	N	0.25031	0.7	0.80722	D	1	P;P	0.49783	0.928;0.85	P;P	0.45343	0.477;0.474	T	0.48328	-0.9045	10	0.54805	T	0.06	.	15.8135	0.78581	0.0:0.0:1.0:0.0	.	140;207	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	V	207;195	ENSP00000221485:A207V;ENSP00000441767:A195V	ENSP00000221485:A207V	A	-	2	0	SLC17A7	54629688	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.435000	0.97529	2.674000	0.91012	0.650000	0.86243	GCG		0.602	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
PXDN	7837	broad.mit.edu	37	2	1652977	1652977	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:1652977A>C	ENST00000252804.4	-	17	2625	c.2575T>G	c.(2575-2577)Tct>Gct	p.S859A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	859					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCATGACAGAGAAGCAGGGG	0.667																																						uc002qxa.2																			0				pancreas(6)|ovary(2)	8						c.(2575-2577)TCT>GCT		peroxidasin precursor							19.0	22.0	21.0					2																	1652977		2147	4248	6395	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652977A>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2575T>G	2.37:g.1652977A>C	ENSP00000252804:p.Ser859Ala						p.S859A	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2639	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	859					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2575T>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074874	0.55646	.	.	ENSG00000130508	ENST00000252804	T	0.68331	-0.32	5.36	5.36	0.76844	.	0.067419	0.64402	D	0.000007	T	0.57198	0.2037	L	0.33485	1.01	0.44439	D	0.997362	P	0.37207	0.587	B	0.39935	0.314	T	0.61739	-0.7001	10	0.62326	D	0.03	-27.7575	10.1204	0.42616	0.9249:0.0:0.0751:0.0	.	859	Q92626	PXDN_HUMAN	A	859	ENSP00000252804:S859A	ENSP00000252804:S859A	S	-	1	0	PXDN	1631984	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	5.978000	0.70501	2.167000	0.68274	0.456000	0.33151	TCT		0.667	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179496982C>T	ENST00000591111.1	-	186	38940	c.38716G>A	c.(38716-38718)Gaa>Aaa	p.E12906K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5607K|TTN_ENST00000460472.2_Missense_Mutation_p.E5482K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5674K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11979K|TTN_ENST00000589042.1_Missense_Mutation_p.E14547K|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12906					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)			GTTTTCCCTTCGTCTTGCATT	0.433																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35935-35937)GAA>AAA		titin isoform N2-A							124.0	113.0	117.0					2																	179496982		1943	4155	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179496982C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38716G>A	2.37:g.179496982C>T	ENSP00000465570:p.Glu12906Lys					TTN_uc010zfh.1_Missense_Mutation_p.E5674K|TTN_uc010zfi.1_Missense_Mutation_p.E5607K|TTN_uc010zfj.1_Missense_Mutation_p.E5482K	p.E11979K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		185	36159	-			12906					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.35935G>A		.	.	.	.	.	.	.	.	.	.	C	13.35	2.210799	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74951	0.3784	L	0.45698	1.435	0.49798	D	0.999829	B;B;B;B	0.33807	0.426;0.426;0.426;0.426	B;B;B;B	0.31245	0.126;0.126;0.126;0.126	T	0.75288	-0.3370	9	0.87932	D	0	.	20.4116	0.99017	0.0:1.0:0.0:0.0	.	5482;5607;5674;12906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11979;5482;5674;5607;5482	ENSP00000343764:E11979K;ENSP00000434586:E5482K;ENSP00000340554:E5674K;ENSP00000352154:E5607K	ENSP00000340554:E5674K	E	-	1	0	TTN	179205227	0.998000	0.40836	0.967000	0.41034	0.278000	0.26855	3.874000	0.56101	2.827000	0.97445	0.655000	0.94253	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179497281	179497281	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179497281C>T	ENST00000591111.1	-	185	38753	c.38529G>A	c.(38527-38529)aaG>aaA	p.K12843K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K5544K|TTN_ENST00000460472.2_Silent_p.K5419K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.K5611K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.K11916K|TTN_ENST00000589042.1_Silent_p.K14484K|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12843	Ig-like 85.				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)			CACTTGTGTGCTTATCTTCAG	0.328																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(35746-35748)AAG>AAA		titin isoform N2-A							107.0	104.0	105.0					2																	179497281		1912	4108	6020	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497281C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38529G>A	2.37:g.179497281C>T						TTN_uc010zfh.1_Silent_p.K5611K|TTN_uc010zfi.1_Silent_p.K5544K|TTN_uc010zfj.1_Silent_p.K5419K	p.K11916K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35972	-			12843					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	Silent	SNP	ENST00000591111.1	37	c.35748G>A																																																																																					0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179647563	179647563	+	Missense_Mutation	SNP	C	C	T	rs368770038		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179647563C>T	ENST00000591111.1	-	18	3294	c.3070G>A	c.(3070-3072)Gtc>Atc	p.V1024I	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1024I|TTN_ENST00000359218.5_Missense_Mutation_p.V978I|TTN_ENST00000460472.2_Missense_Mutation_p.V978I|TTN_ENST00000342175.6_Missense_Mutation_p.V978I|TTN_ENST00000342992.6_Missense_Mutation_p.V1024I|TTN_ENST00000589042.1_Missense_Mutation_p.V1024I			Q8WZ42	TITIN_HUMAN	titin	32577	Ig-like 3.				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)			GATGTGCTGACGGTTCCAGCC	0.498																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3070-3072)GTC>ATC		titin isoform N2-A		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	71.0	76.0		2932,3070,3070,2932,2932	6.2	1.0	2		76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	978/26927,1024/33424,1024/5605,978/27052,978/27119	179647563	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647563C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3070G>A	2.37:g.179647563C>T	ENSP00000465570:p.Val1024Ile					TTN_uc010zfh.1_Missense_Mutation_p.V978I|TTN_uc010zfi.1_Missense_Mutation_p.V978I|TTN_uc010zfj.1_Missense_Mutation_p.V978I|TTN_uc002unb.2_Missense_Mutation_p.V1024I	p.V1024I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3294	-			1024					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3070G>A		.	.	.	.	.	.	.	.	.	.	C	13.24	2.177188	0.38413	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66858	0.2832	L	0.35793	1.09	0.26168	N	0.979906	P;P;P;P;D	0.56746	0.768;0.768;0.768;0.768;0.977	B;B;B;B;P	0.46076	0.12;0.12;0.12;0.12;0.503	T	0.64803	-0.6321	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	978;978;978;1024;1024	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	1024;978;978;978;978;1024	ENSP00000343764:V1024I;ENSP00000434586:V978I;ENSP00000340554:V978I;ENSP00000352154:V978I;ENSP00000354117:V1024I	ENSP00000340554:V978I	V	-	1	0	TTN	179355808	0.992000	0.36948	0.999000	0.59377	0.572000	0.35998	3.050000	0.49877	2.941000	0.99782	0.655000	0.94253	GTC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYO1B	4430	broad.mit.edu	37	2	192278803	192278803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:192278803T>C	ENST00000392318.3	+	28	3150	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	MYO1B_ENST00000304164.4_Missense_Mutation_p.L968P|MYO1B_ENST00000439065.2_Missense_Mutation_p.L213P|MYO1B_ENST00000339514.4_Missense_Mutation_p.L910P|MYO1B_ENST00000392316.1_Missense_Mutation_p.L939P	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	968	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGGGCTTACCTGGAAATCAAC	0.373																																						uc010fsg.2																			0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(2902-2904)CTG>CCG		myosin IB isoform 1							113.0	119.0	117.0					2																	192278803		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192278803T>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2903T>C	2.37:g.192278803T>C	ENSP00000376132:p.Leu968Pro					MYO1B_uc002usq.2_Missense_Mutation_p.L910P|MYO1B_uc002usr.2_Missense_Mutation_p.L968P|MYO1B_uc002usu.2_Missense_Mutation_p.L213P|MYO1B_uc002usv.2_Missense_Mutation_p.L84P	p.L968P	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		28	3158	+			968					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2903T>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053594	0.75960	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.16	5.16	0.70880	Myosin tail 2 (1);	0.079818	0.53938	D	0.000058	T	0.68586	0.3017	M	0.66297	2.02	0.80722	D	1	D;D;D	0.65815	0.995;0.976;0.986	D;D;P	0.65573	0.913;0.936;0.898	T	0.71981	-0.4428	10	0.72032	D	0.01	.	13.9994	0.64424	0.0:0.0:0.0:1.0	.	213;968;910	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	P	910;968;968;939;213	ENSP00000341903:L910P;ENSP00000376132:L968P;ENSP00000306382:L968P;ENSP00000376130:L939P;ENSP00000391442:L213P	ENSP00000306382:L968P	L	+	2	0	MYO1B	191987048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.426000	0.66476	2.296000	0.77279	0.482000	0.46254	CTG		0.373	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
HNF4A	3172	broad.mit.edu	37	20	43034798	43034798	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr20:43034798C>T	ENST00000316099.4	+	2	305	c.216C>T	c.(214-216)taC>taT	p.Y72Y	HNF4A_ENST00000316673.4_Silent_p.Y50Y|HNF4A_ENST00000609795.1_Silent_p.Y50Y|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Silent_p.Y72Y|HNF4A_ENST00000415691.2_Silent_p.Y72Y|HNF4A_ENST00000457232.1_Silent_p.Y50Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	72					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAACACTACGGTGCCTCGA	0.622																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(214-216)TAC>TAT		hepatocyte nuclear factor 4 alpha isoform b							84.0	82.0	83.0					20																	43034798		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034798C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.216C>T	20.37:g.43034798C>T						HNF4A_uc010zwo.1_Missense_Mutation_p.T63M|HNF4A_uc002xlt.2_Silent_p.Y50Y|HNF4A_uc002xlu.2_Silent_p.Y50Y|HNF4A_uc002xlv.2_Silent_p.Y50Y|HNF4A_uc002xly.2_Silent_p.Y72Y|HNF4A_uc002xlz.2_Silent_p.Y72Y|HNF4A_uc010ggq.2_Silent_p.Y65Y	p.Y72Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	305	+		Myeloproliferative disorder(115;0.0122)	72			Nuclear receptor.|NR C4-type.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.216C>T	CCDS13330.1																																																																																				0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
ABCG1	9619	broad.mit.edu	37	21	43716431	43716431	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr21:43716431G>A	ENST00000361802.2	+	15	2111	c.1966G>A	c.(1966-1968)Ggg>Agg	p.G656R	ABCG1_ENST00000398449.3_Missense_Mutation_p.G644R|ABCG1_ENST00000398437.1_Missense_Mutation_p.G802R|ABCG1_ENST00000347800.2_Missense_Mutation_p.G641R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.G655R|ABCG1_ENST00000398457.2_Missense_Mutation_p.G646R|ABCG1_ENST00000340588.4_Missense_Mutation_p.G764R	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	656	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGTACTCGGGATTTTCTT	0.522																																						uc002zaq.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1966-1968)GGG>AGG		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						143.0	141.0	142.0					21																	43716431		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43716431G>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1966G>A	21.37:g.43716431G>A	ENSP00000354995:p.Gly656Arg					ABCG1_uc002zan.2_Missense_Mutation_p.G646R|ABCG1_uc002zam.2_Missense_Mutation_p.G622R|ABCG1_uc002zao.2_Missense_Mutation_p.G641R|ABCG1_uc002zap.2_Missense_Mutation_p.G644R|ABCG1_uc002zar.2_Missense_Mutation_p.G655R|ABCG1_uc011aev.1_Missense_Mutation_p.G667R|uc002zau.2_5'Flank	p.G656R	NM_004915	NP_004906	P45844	ABCG1_HUMAN			15	2072	+			656			ABC transmembrane type-2.|Helical; (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1966G>A	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867844	0.51588	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.94	4.94	0.65067	.	0.142348	0.48286	D	0.000196	T	0.45657	0.1353	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D	0.76494	0.981;0.989;0.992;0.959;0.959;0.999	P;P;P;P;P;P	0.62649	0.551;0.738;0.657;0.656;0.656;0.905	T	0.51204	-0.8735	9	.	.	.	-35.1524	18.5538	0.91075	0.0:0.0:1.0:0.0	.	667;655;656;644;641;646	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	R	646;641;644;656;655;802;764	ENSP00000381475:G646R;ENSP00000291524:G641R;ENSP00000381467:G644R;ENSP00000354995:G656R;ENSP00000339744:G655R;ENSP00000381464:G802R;ENSP00000343820:G764R	.	G	+	1	0	ABCG1	42589500	1.000000	0.71417	0.501000	0.27601	0.144000	0.21451	7.521000	0.81832	2.440000	0.82611	0.655000	0.94253	GGG		0.522	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
HPS4	89781	broad.mit.edu	37	22	26860320	26860320	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:26860320G>A	ENST00000398145.2	-	11	1892	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	HPS4_ENST00000402105.3_Missense_Mutation_p.R421C|HPS4_ENST00000398141.1_Missense_Mutation_p.R439C|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000336873.5_Missense_Mutation_p.R426C	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	426					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGGGAGGGCGCAAGCTGCTG	0.622									Hermansky-Pudlak syndrome																													uc003acl.2																			0					0						c.(1276-1278)CGC>TGC		light ear protein isoform a							79.0	71.0	74.0					22																	26860320		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860320G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1276C>T	22.37:g.26860320G>A	ENSP00000381213:p.Arg426Cys					HPS4_uc003aci.2_Missense_Mutation_p.R421C|HPS4_uc003acj.2_Missense_Mutation_p.R290C|HPS4_uc003ack.2_Missense_Mutation_p.R217C|HPS4_uc003acn.2_Missense_Mutation_p.R272C|HPS4_uc010gvd.1_Missense_Mutation_p.R444C|HPS4_uc003ach.2_Missense_Mutation_p.R161C	p.R426C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	1935	-			426					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1276C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242881	0.22796	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;T;T;T;T	0.55413	1.52;1.52;1.52;1.52;0.52	3.83	0.544	0.17185	.	1.843430	0.02693	N	0.110921	T	0.37100	0.0991	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;B	0.45078	0.688;0.688;0.688;0.688;0.85;0.379	B;B;B;B;B;B	0.37780	0.258;0.172;0.172;0.172;0.235;0.172	T	0.31861	-0.9928	10	0.38643	T	0.18	-0.1474	6.2266	0.20711	0.327:0.0:0.673:0.0	.	426;426;426;426;439;421	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	C	426;439;421;426;444;444	ENSP00000381213:R426C;ENSP00000381210:R439C;ENSP00000384185:R421C;ENSP00000338457:R426C;ENSP00000415081:R444C	ENSP00000325840:R444C	R	-	1	0	HPS4	25190320	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.675000	0.25232	0.213000	0.20722	-0.150000	0.13652	CGC		0.622	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081	
PANX2	56666	broad.mit.edu	37	22	50617533	50617533	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:50617533G>A	ENST00000395842.2	+	3	1861	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	PANX2_ENST00000159647.5_Missense_Mutation_p.A621T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	621					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCCGAAACGCCACACACCC	0.711																																						uc003bjn.3																			0				breast(1)	1						c.(1861-1863)GCC>ACC		pannexin 2 isoform 1							41.0	39.0	39.0					22																	50617533		2197	4296	6493	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617533G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1861G>A	22.37:g.50617533G>A	ENSP00000379183:p.Ala621Thr					PANX2_uc003bjp.3_Missense_Mutation_p.A487T|PANX2_uc003bjo.3_Missense_Mutation_p.A621T	p.A621T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	3	1861	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	621			Cytoplasmic (Potential).		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1861G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916129	0.52546	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.25579	1.79;1.82	3.72	1.38	0.22167	.	0.624611	0.14761	N	0.299992	T	0.13586	0.0329	N	0.24115	0.695	0.32553	N	0.532106	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.11203	-1.0597	10	0.48119	T	0.1	-19.4173	2.8178	0.05463	0.1128:0.3507:0.3931:0.1434	.	621;621	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	621;621;298	ENSP00000159647:A621T;ENSP00000379183:A621T	ENSP00000159647:A621T	A	+	1	0	PANX2	48959660	0.969000	0.33509	0.926000	0.36857	0.841000	0.47740	1.659000	0.37387	0.907000	0.36646	0.313000	0.20887	GCC		0.711	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
QARS	5859	broad.mit.edu	37	3	49136953	49136953	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:49136953C>A	ENST00000306125.6	-	16	1853	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	QARS_ENST00000414533.1_Missense_Mutation_p.G495C|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	506					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCACAGCACCAGTTGCTACA	0.527																																						uc003cvx.2																			0				ovary(1)	1						c.(1516-1518)GGT>TGT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						110.0	112.0	111.0					3																	49136953		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136953C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1516G>T	3.37:g.49136953C>A	ENSP00000307567:p.Gly506Cys					QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.G361C|QARS_uc003cvy.2_Missense_Mutation_p.G361C|QARS_uc011bce.1_Missense_Mutation_p.G495C	p.G506C	NM_005051	NP_005042	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1521	-			506					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1516G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531807	0.85706	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.23348	1.91;1.91;1.91	5.85	5.85	0.93711	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81380	-0.0959	10	0.87932	D	0	-15.6439	20.1669	0.98153	0.0:1.0:0.0:0.0	.	495;506	B4DWJ2;P47897	.;SYQ_HUMAN	C	26;506;495	ENSP00000396326:G26C;ENSP00000307567:G506C;ENSP00000390015:G495C	ENSP00000307567:G506C	G	-	1	0	QARS	49111957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.570000	0.67398	2.770000	0.95276	0.650000	0.86243	GGT		0.527	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
EPHA6	285220	broad.mit.edu	37	3	96945145	96945145	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:96945145C>A	ENST00000389672.5	+	4	1190	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N384K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCTGGGAACACAAAATGTT	0.358																																						uc010how.1																			0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1150-1152)AAC>AAA		EPH receptor A6 isoform a							125.0	117.0	120.0					3																	96945145		1830	4082	5912	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96945145C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1152C>A	3.37:g.96945145C>A	ENSP00000374323:p.Asn384Lys					EPHA6_uc003drp.1_Missense_Mutation_p.N384K	p.N384K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			4	1195	+			289			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1152C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023259	0.35701	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	D;D	0.97941	-4.62;-4.62	5.44	2.11	0.27256	.	.	.	.	.	D	0.96460	0.8845	M	0.82193	2.58	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	D	0.93042	0.6458	9	0.56958	D	0.05	.	8.2618	0.31790	0.0:0.4153:0.0:0.5847	.	384;384	B3KS12;E7EU71	.;.	K	384	ENSP00000420598:N384K;ENSP00000374323:N384K	ENSP00000374323:N384K	N	+	3	2	EPHA6	98427835	0.989000	0.36119	0.997000	0.53966	0.909000	0.53808	0.294000	0.19047	0.200000	0.20447	0.460000	0.39030	AAC		0.358	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
HCN1	348980	broad.mit.edu	37	5	45262329	45262329	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:45262329C>T	ENST00000303230.4	-	8	2424	c.2367G>A	c.(2365-2367)tcG>tcA	p.S789S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	789				S -> W (in Ref. 2; AAC39759). {ECO:0000305}.	apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGAGGGCTGCGAGGCGGAGA	0.627																																						uc003jok.2																			0				ovary(1)	1						c.(2365-2367)TCG>TCA		hyperpolarization activated cyclic							63.0	60.0	61.0					5																	45262329		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262329C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2367G>A	5.37:g.45262329C>T							p.S789S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2392	-			789	S -> W (in Ref. 2; AAC39759).		Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2367G>A	CCDS3952.1																																																																																				0.627	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
GPR98	84059	broad.mit.edu	37	5	89986756	89986756	+	Silent	SNP	C	C	T	rs374348614	byFrequency	TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:89986756C>T	ENST00000405460.2	+	31	6945	c.6849C>T	c.(6847-6849)ggC>ggT	p.G2283G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2283	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTACTGGCGACCTGCGAG	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.002					uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6847-6849)GGC>GGT		G protein-coupled receptor 98 precursor		C		1,3905		0,1,1952	103.0	101.0	102.0		6849	3.0	1.0	5		102	0,8320		0,0,4160	no	coding-synonymous	GPR98	NM_032119.3		0,1,6112	TT,TC,CC		0.0,0.0256,0.0082		2283/6307	89986756	1,12225	1953	4160	6113	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986756C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6849C>T	5.37:g.89986756C>T						GPR98_uc003kjt.2_Missense_Mutation_p.A17V|GPR98_uc003kjv.2_5'Flank	p.G2283G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	6945	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2283			Calx-beta 16.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6849C>T	CCDS47246.1																																																																																				0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHA11	56138	broad.mit.edu	37	5	140249736	140249736	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140249736G>A	ENST00000398640.2	+	1	1048	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	350	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A350T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAAGTCGCCGTGACTTC	0.547																																						uc003lia.2																			1	Substitution - Missense(1)		large_intestine(1)	breast(1)	1						c.(1048-1050)GCC>ACC		protocadherin alpha 11 isoform 1 precursor							68.0	73.0	71.0					5																	140249736		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249736G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1048G>A	5.37:g.140249736G>A	ENSP00000381636:p.Ala350Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A350T	p.A350T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1906	+			350			Cadherin 4.|Extracellular (Potential).		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1048G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.455096	0.00173	.	.	ENSG00000249158	ENST00000398640	T	0.59906	0.23	5.73	0.616	0.17613	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.26846	0.0657	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.26326	-1.0106	9	0.02654	T	1	.	4.6734	0.12699	0.5058:0.0:0.297:0.1972	.	350;350	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	350	ENSP00000381636:A350T	ENSP00000381636:A350T	A	+	1	0	PCDHA11	140229920	0.000000	0.05858	0.000000	0.03702	0.328000	0.28507	-2.764000	0.00784	0.119000	0.18210	-1.320000	0.01293	GCC		0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHB4	56131	broad.mit.edu	37	5	140503426	140503426	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140503426G>A	ENST00000194152.1	+	1	1846	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTTCGGCGTGTGGGCGCA	0.677																																						uc003lip.1																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1846-1848)GTG>ATG		protocadherin beta 4 precursor							25.0	26.0	25.0					5																	140503426		2106	4140	6246	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503426G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1846G>A	5.37:g.140503426G>A	ENSP00000194152:p.Val616Met						p.V616M	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1846	+			616			Cadherin 6.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1846G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602710	0.46423	.	.	ENSG00000081818	ENST00000194152	T	0.59502	0.26	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67961	0.2949	M	0.69523	2.12	0.30469	N	0.773477	D	0.65815	0.995	P	0.59012	0.85	T	0.67806	-0.5575	9	0.72032	D	0.01	.	7.9302	0.29897	0.1857:0.0:0.8143:0.0	.	616	Q9Y5E5	PCDB4_HUMAN	M	616	ENSP00000194152:V616M	ENSP00000194152:V616M	V	+	1	0	PCDHB4	140483610	0.189000	0.23263	0.998000	0.56505	0.844000	0.47949	0.537000	0.23144	2.307000	0.77673	0.485000	0.47835	GTG		0.677	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PDGFRB	5159	broad.mit.edu	37	5	149504343	149504343	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:149504343T>A	ENST00000261799.4	-	13	2328	c.1859A>T	c.(1858-1860)cAt>cTt	p.H620L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCAGGCCATGAGCCGTGGC	0.597			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(1858-1860)CAT>CTT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						44.0	43.0	43.0					5																	149504343		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149504343T>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1859A>T	5.37:g.149504343T>A	ENSP00000261799:p.His620Leu					PDGFRB_uc010jhd.2_Missense_Mutation_p.H459L	p.H620L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2328	-		all_hematologic(541;0.224)	620			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1859A>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117099	0.77323	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.82433	-1.61	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000086	T	0.77765	0.4179	N	0.10972	0.075	0.54753	D	0.99998	B;D	0.55172	0.071;0.97	B;P	0.53102	0.18;0.718	T	0.82279	-0.0536	10	0.62326	D	0.03	.	14.2517	0.66023	0.0:0.0:0.0:1.0	.	620;620	A8KAM8;P09619	.;PGFRB_HUMAN	L	620;290	ENSP00000261799:H620L	ENSP00000261799:H620L	H	-	2	0	PDGFRB	149484536	1.000000	0.71417	0.922000	0.36590	0.993000	0.82548	4.827000	0.62723	1.953000	0.56701	0.374000	0.22700	CAT		0.597	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
MSX2	4488	broad.mit.edu	37	5	174152030	174152030	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:174152030C>T	ENST00000239243.6	+	1	495	c.368C>T	c.(367-369)tCg>tTg	p.S123L	MSX2_ENST00000507785.1_Missense_Mutation_p.S123L	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	123					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCGATATTCGCCGCCGCCA	0.677																																						uc003mcy.2																			0					0						c.(367-369)TCG>TTG		msh homeobox 2							10.0	16.0	14.0					5																	174152030		2005	3919	5924	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174152030C>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.368C>T	5.37:g.174152030C>T	ENSP00000239243:p.Ser123Leu						p.S123L	NM_002449	NP_002440	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	456	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	123					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.368C>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323827	0.81580	.	.	ENSG00000120149	ENST00000239243;ENST00000507785	D;T	0.95656	-3.77;-0.2	4.03	4.03	0.46877	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.78049	2.395	0.80722	D	1	D	0.58970	0.984	B	0.42245	0.381	D	0.95641	0.8698	10	0.66056	D	0.02	-13.4623	16.3771	0.83410	0.0:1.0:0.0:0.0	.	123	P35548	MSX2_HUMAN	L	123	ENSP00000239243:S123L;ENSP00000427425:S123L	ENSP00000239243:S123L	S	+	2	0	MSX2	174084636	0.973000	0.33851	1.000000	0.80357	0.828000	0.46876	3.598000	0.54038	2.075000	0.62263	0.462000	0.41574	TCG		0.677	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3		
F13A1	2162	broad.mit.edu	37	6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	rs113599940		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:6174842G>A	ENST00000264870.3	-	12	1983	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	573					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527																																						uc003mwv.2																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(1717-1719)ACG>ATG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						283.0	247.0	259.0					6																	6174842		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174842G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1718C>T	6.37:g.6174842G>A	ENSP00000264870:p.Thr573Met					F13A1_uc011dib.1_Missense_Mutation_p.T510M	p.T573M	NM_000129	NP_000120	P00488	F13A_HUMAN			12	1841	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	573					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1718C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934696	0.34189	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.69306	-0.39	5.78	5.78	0.91487	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.563919	0.18787	N	0.131169	T	0.67915	0.2944	M	0.66939	2.045	0.23542	N	0.997459	D;D	0.76494	0.992;0.999	P;P	0.56278	0.795;0.628	T	0.64449	-0.6405	10	0.52906	T	0.07	.	13.9156	0.63895	0.0:0.0:0.8481:0.1519	.	510;573	F5H080;P00488	.;F13A_HUMAN	M	573;510	ENSP00000264870:T573M	ENSP00000264870:T573M	T	-	2	0	F13A1	6119841	0.877000	0.30153	0.418000	0.26571	0.084000	0.17831	2.734000	0.47368	2.726000	0.93360	0.643000	0.83706	ACG		0.527	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
CMTR1	23070	broad.mit.edu	37	6	37438827	37438827	+	Silent	SNP	G	G	A	rs146308234		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:37438827G>A	ENST00000373451.4	+	14	1700	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	512					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AAGCTCTGGCGAAAATCCATG	0.418																																						uc003ons.2																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1534-1536)GCG>GCA		FtsJ methyltransferase domain containing 2		G		3,4403	6.2+/-15.9	0,3,2200	92.0	86.0	88.0		1536	3.0	1.0	6	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	FTSJD2	NM_015050.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		512/836	37438827	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37438827G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1536G>A	6.37:g.37438827G>A							p.A512A	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			14	1789	+			512					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.1536G>A	CCDS4835.1																																																																																				0.418	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs571541469		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(370-372)gcg>GCGgcg	p.124_124A>AA	C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000442114.2_In_Frame_Ins_p.104_104A>AA|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777																																						uc003own.2																			0					0						c.(367-372)insGCG		hypothetical protein LOC221416																																				SO:0001652	inframe_insertion	221416							g.chr6:43970503_43970504insGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.394_396dupGCG	6.37:g.43970510_43970512dupGCG	ENSP00000426159:p.Ala132dup					uc003owm.1_Intron|C6orf223_uc003owo.2_In_Frame_Ins_p.112_113insA	p.132_133insA	NM_153246	NP_694978	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	387_388	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		132_133			Ala-rich.		E9PB59|Q8N575	In_Frame_Ins	INS	ENST00000336600.5	37	c.369_370insGCG	CCDS34459.1																																																																																				0.777	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246	
SNAP91	9892	broad.mit.edu	37	6	84302667	84302667	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:84302667G>T	ENST00000439399.2	-	20	2160	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S615Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.S615Y|SNAP91_ENST00000428679.2_Missense_Mutation_p.S615Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S615Y|SNAP91_ENST00000520302.1_Missense_Mutation_p.S613Y|SNAP91_ENST00000521485.1_Missense_Mutation_p.S615Y	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	615					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTCACCAGATAAGAGGTC	0.448																																						uc011dze.1																			0				ovary(1)	1						c.(1843-1845)TCT>TAT		synaptosomal-associated protein, 91kDa homolog							32.0	33.0	33.0					6																	84302667		1893	4126	6019	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302667G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1844C>A	6.37:g.84302667G>T	ENSP00000400459:p.Ser615Tyr					SNAP91_uc011dzd.1_Missense_Mutation_p.S118Y|SNAP91_uc003pkb.2_Missense_Mutation_p.S552Y|SNAP91_uc003pkc.2_Missense_Mutation_p.S613Y|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.S613Y	p.S615Y	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	19	2161	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	615					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1844C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944266	0.53079	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T	0.35048	2.27;2.28;2.28;2.27;2.3;2.4;2.28;1.86;1.33	5.31	5.31	0.75309	.	0.313972	0.34411	N	0.003984	T	0.50650	0.1628	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.71674	0.989;0.997;0.994;0.998	D;P;P;D	0.72625	0.932;0.903;0.898;0.978	T	0.50841	-0.8780	10	0.56958	D	0.05	-9.9527	18.9633	0.92685	0.0:0.0:1.0:0.0	.	496;613;615;613	B7Z2N2;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	Y	615;615;615;615;615;613;615;12;428	ENSP00000429776:S615Y;ENSP00000358708:S615Y;ENSP00000400459:S615Y;ENSP00000195649:S615Y;ENSP00000412492:S615Y;ENSP00000428511:S613Y;ENSP00000428215:S615Y;ENSP00000430255:S12Y;ENSP00000430071:S428Y	ENSP00000195649:S615Y	S	-	2	0	SNAP91	84359386	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	8.762000	0.91711	2.489000	0.83994	0.561000	0.74099	TCT		0.448	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
GPRC6A	222545	broad.mit.edu	37	6	117113591	117113591	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:117113591G>T	ENST00000310357.3	-	6	2516	c.2495C>A	c.(2494-2496)cCc>cAc	p.P832H	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P761H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P657H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	832					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P832H(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGCATTTGGGGATGAATGT	0.368																																						uc003pxj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2494-2496)CCC>CAC		G protein-coupled receptor, family C, group 6,							110.0	112.0	111.0					6																	117113591		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113591G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2495C>A	6.37:g.117113591G>T	ENSP00000309493:p.Pro832His					GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	p.P832H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2517	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	832			Cytoplasmic (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2495C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498801	0.44455	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.97811	-4.55;-4.55;-4.55	4.11	4.11	0.48088	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000058	D	0.98947	0.9642	M	0.92880	3.355	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99679	1.0998	10	0.87932	D	0	.	16.515	0.84297	0.0:0.0:1.0:0.0	.	761;657;832	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	832;761;657	ENSP00000309493:P832H;ENSP00000357537:P761H;ENSP00000433465:P657H	ENSP00000309493:P832H	P	-	2	0	GPRC6A	117220284	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.342000	0.79310	2.132000	0.65825	0.591000	0.81541	CCC		0.368	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
INTS1	26173	broad.mit.edu	37	7	1538054	1538054	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr7:1538054C>T	ENST00000404767.3	-	10	1504	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_ENST00000389470.4_Silent_p.A601A|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	473					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642																																						uc003skn.2																			0					0						c.(1417-1419)GCG>GCA		integrator complex subunit 1							62.0	68.0	66.0					7																	1538054		2024	4178	6202	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538054C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1419G>A	7.37:g.1538054C>T						INTS1_uc003skq.2_Silent_p.A473A	p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	10	1520	-		Ovarian(82;0.0253)	473					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.1419G>A	CCDS47526.1																																																																																				0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
ESRP1	54845	broad.mit.edu	37	8	95683852	95683852	+	Missense_Mutation	SNP	G	G	A	rs542614931		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr8:95683852G>A	ENST00000433389.2	+	11	1595	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ESRP1_ENST00000358397.5_Missense_Mutation_p.A469T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A469T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A469T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	469	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGGGGAGTTCGCCACAGATAT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16707	0.0		0.0	False		,,,				2504	0.001					uc003ygq.3																		ESRP1/RAF1(4)	0				prostate(4)	4						c.(1405-1407)GCC>ACC		RNA binding motif protein 35A isoform 1							53.0	52.0	52.0					8																	95683852		1973	4164	6137	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683852G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1405G>A	8.37:g.95683852G>A	ENSP00000405738:p.Ala469Thr					ESRP1_uc003ygr.3_Missense_Mutation_p.A469T|ESRP1_uc003ygs.3_Missense_Mutation_p.A469T|ESRP1_uc003ygt.3_Missense_Mutation_p.A469T|ESRP1_uc003ygu.3_Missense_Mutation_p.A469T|ESRP1_uc003ygv.2_Missense_Mutation_p.A309T|ESRP1_uc003ygw.2_Missense_Mutation_p.A309T	p.A469T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			11	1588	+			469			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1405G>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.953345|1.953345	0.34471|0.34471	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.29397|.	1.57;1.57;1.57;3.38;1.57|.	4.98|4.98	-0.717|-0.717	0.11208|0.11208	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.380726|.	0.32987|.	N|.	0.005406|.	T|T	0.28134|0.28134	0.0694|0.0694	N|N	0.12961|0.12961	0.28|0.28	0.28381|0.28381	N|N	0.919549|0.919549	P;B;B;B;B;B|.	0.43662|.	0.814;0.01;0.09;0.033;0.026;0.004|.	B;B;B;B;B;B|.	0.40782|.	0.34;0.012;0.017;0.058;0.021;0.006|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.33141|.	T|.	0.24|.	-4.8416|-4.8416	14.142|14.142	0.65325|0.65325	0.0:0.0:0.5259:0.4741|0.0:0.0:0.5259:0.4741	.|.	469;469;469;469;469;469|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|H	469;469;469;469;328|334	ENSP00000407349:A469T;ENSP00000405738:A469T;ENSP00000351168:A469T;ENSP00000402766:A469T;ENSP00000429125:A328T|.	ENSP00000351168:A469T|.	A|R	+|+	1|2	0|0	ESRP1|ESRP1	95753028|95753028	0.942000|0.942000	0.31987|0.31987	0.949000|0.949000	0.38748|0.38748	0.990000|0.990000	0.78478|0.78478	1.583000|1.583000	0.36579|0.36579	-0.293000|-0.293000	0.08986|0.08986	-0.457000|-0.457000	0.05445|0.05445	GCC|CGC		0.438	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	
BNC2	54796	broad.mit.edu	37	9	16435990	16435990	+	Silent	SNP	G	G	A	rs376030025		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:16435990G>A	ENST00000380672.4	-	6	2259	c.2202C>T	c.(2200-2202)ggC>ggT	p.G734G	BNC2_ENST00000380667.2_Silent_p.G667G|BNC2_ENST00000380666.2_Silent_p.G734G|BNC2_ENST00000545497.1_Silent_p.G639G	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517																																						uc003zml.2																			0				ovary(2)|central_nervous_system(1)	3						c.(2200-2202)GGC>GGT		basonuclin 2		G		0,4406		0,0,2203	102.0	89.0	94.0		2202	-7.7	0.6	9		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		734/1100	16435990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435990G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2202C>T	9.37:g.16435990G>A						BNC2_uc011lmw.1_Silent_p.G639G|BNC2_uc003zmm.2_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.1_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.2_Silent_p.G499G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	p.G734G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2342	-			734						Silent	SNP	ENST00000380672.4	37	c.2202C>T	CCDS6482.2																																																																																				0.517	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
LINGO2	158038	broad.mit.edu	37	9	27948963	27948963	+	Silent	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:27948963C>A	ENST00000379992.2	-	6	2156	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	LINGO2_ENST00000308675.3_Silent_p.G569G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	569						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTTGCCTTTCCCTCGGCTCC	0.463																																						uc003zqu.1																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1705-1707)GGG>GGT		leucine rich repeat and Ig domain containing 2							101.0	90.0	94.0					9																	27948963		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27948963C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1707G>T	9.37:g.27948963C>A						LINGO2_uc010mjf.1_Silent_p.G569G|LINGO2_uc003zqv.1_Silent_p.G569G	p.G569G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1901	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	569			Cytoplasmic (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.1707G>T	CCDS6524.1																																																																																				0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
PHF2	5253	broad.mit.edu	37	9	96408031	96408031	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:96408031G>A	ENST00000359246.4	+	4	787	c.420G>A	c.(418-420)ccG>ccA	p.P140P	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	140					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTGTCCCGGCCCCCACGT	0.627																																						uc004aub.2																			0				ovary(1)	1						c.(418-420)CCG>CCA		PHD finger protein 2							63.0	59.0	61.0					9																	96408031		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96408031G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.420G>A	9.37:g.96408031G>A						PHF2_uc011lug.1_Silent_p.P23P	p.P140P	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	4	567	+		Myeloproliferative disorder(762;0.0255)	140					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.420G>A	CCDS35069.1																																																																																				0.627	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
OR13C8	138802	broad.mit.edu	37	9	107331658	107331658	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:107331658C>T	ENST00000335040.1	+	1	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423																																						uc011lvo.1																			0				ovary(1)|skin(1)	2						c.(208-210)GAC>GAT		olfactory receptor, family 13, subfamily C,							279.0	261.0	267.0					9																	107331658		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331658C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.210C>T	9.37:g.107331658C>T							p.D70D	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	210	+			70			Helical; Name=2; (Potential).		Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.210C>T	CCDS35090.1																																																																																				0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
ZNF79	7633	broad.mit.edu	37	9	130207274	130207274	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:130207274T>C	ENST00000342483.5	+	5	1701	c.1295T>C	c.(1294-1296)cTc>cCc	p.L432P	ZNF79_ENST00000543471.1_Missense_Mutation_p.L408P|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCTCAGCCCTCATTCGGCAT	0.443																																						uc004bqw.3																			0				central_nervous_system(1)	1						c.(1294-1296)CTC>CCC		zinc finger protein 79							96.0	102.0	100.0					9																	130207274		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207274T>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1295T>C	9.37:g.130207274T>C	ENSP00000362446:p.Leu432Pro					ZNF79_uc011maf.1_Missense_Mutation_p.L408P|ZNF79_uc011mag.1_Missense_Mutation_p.L408P	p.L432P	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1709	+			432			C2H2-type 9.		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.1295T>C	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196073	0.38806	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.53857	0.6;0.6	3.6	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78123	0.4234	H	0.94698	3.57	0.23204	N	0.998129	D	0.89917	1.0	D	0.91635	0.999	T	0.68375	-0.5425	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:0.0:1.0	.	432	Q15937	ZNF79_HUMAN	P	432;408	ENSP00000362446:L432P;ENSP00000438418:L408P	ENSP00000362446:L432P	L	+	2	0	ZNF79	129247095	0.355000	0.24921	0.834000	0.33040	0.800000	0.45204	3.894000	0.56250	1.502000	0.48669	0.533000	0.62120	CTC		0.443	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135	
MXRA5	25878	broad.mit.edu	37	X	3241682	3241682	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:3241682G>A	ENST00000217939.6	-	5	2198	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCTGGGCGTCTGCCTCTT	0.532																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2044-2046)CGC>TGC		adlican precursor							79.0	73.0	75.0					X																	3241682		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241682G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2044C>T	X.37:g.3241682G>A	ENSP00000217939:p.Arg682Cys						p.R682C	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2201	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2044C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738176	0.30774	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	3.48	3.48	0.39840	.	0.561089	0.14863	U	0.293997	T	0.58779	0.2146	N	0.08118	0	0.31286	N	0.689964	D	0.76494	0.999	P	0.54924	0.764	T	0.64728	-0.6339	10	0.56958	D	0.05	.	13.0265	0.58819	0.0:0.0:1.0:0.0	.	682	Q9NR99	MXRA5_HUMAN	C	682	ENSP00000217939:R682C	ENSP00000217939:R682C	R	-	1	0	MXRA5	3251682	0.995000	0.38212	0.006000	0.13384	0.006000	0.05464	2.998000	0.49465	1.370000	0.46153	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
FRMPD4	9758	broad.mit.edu	37	X	12712508	12712508	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:12712508G>A	ENST00000380682.1	+	9	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413																																						uc004cuz.1																			0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(868-870)GTC>ATC		FERM and PDZ domain containing 4							147.0	113.0	124.0					X																	12712508		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12712508G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.868G>A	X.37:g.12712508G>A	ENSP00000370057:p.Val290Ile					FRMPD4_uc011mij.1_Missense_Mutation_p.V282I	p.V290I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			9	1374	+			290			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.868G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440245	0.43326	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06068	3.35	5.15	3.36	0.38483	Band 4.1 domain (1);FERM domain (1);	0.135275	0.48286	D	0.000188	T	0.05547	0.0146	N	0.19112	0.55	0.28983	N	0.888546	P;B	0.48764	0.915;0.341	P;B	0.45276	0.475;0.06	T	0.18681	-1.0329	10	0.39692	T	0.17	.	9.521	0.39135	0.0764:0.0:0.7811:0.1425	.	282;290	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	290;281;279	ENSP00000370057:V290I	ENSP00000304583:V279I	V	+	1	0	FRMPD4	12622429	1.000000	0.71417	0.921000	0.36526	0.912000	0.54170	3.437000	0.52863	0.486000	0.27676	-0.237000	0.12165	GTC		0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
YY2	404281	broad.mit.edu	37	X	21875300	21875300	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:21875300A>G	ENST00000429584.2	+	1	1196	c.698A>G	c.(697-699)aAa>aGa	p.K233R	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAGATCCTAAACAGCTGGCA	0.488																																						uc011mjp.1																			0				breast(1)|skin(1)	2						c.(697-699)AAA>AGA		YY2 transcription factor							120.0	133.0	129.0					X																	21875300		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875300A>G	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.698A>G	X.37:g.21875300A>G	ENSP00000389381:p.Lys233Arg					MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.K451R|MBTPS2_uc004dab.2_Intron	p.K233R	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	698	+			233					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.698A>G	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225152	0.58668	.	.	ENSG00000230797	ENST00000429584	T	0.12465	2.68	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.33469	0.0864	M	0.67700	2.07	0.52099	D	0.999945	D	0.89917	1.0	D	0.83275	0.996	T	0.03969	-1.0988	10	0.56958	D	0.05	.	11.3809	0.49757	1.0:0.0:0.0:0.0	.	233	O15391	TYY2_HUMAN	R	233	ENSP00000389381:K233R	ENSP00000389381:K233R	K	+	2	0	YY2	21785221	1.000000	0.71417	0.980000	0.43619	0.103000	0.19146	4.736000	0.62059	1.888000	0.54679	0.486000	0.48141	AAA		0.488	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923	
MED12	9968	broad.mit.edu	37	X	70341522	70341523	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70341522_70341523delTA	ENST00000374080.3	+	7	989_990	c.957_958delTA	c.(955-960)gttatafs	p.I320fs	MED12_ENST00000333646.6_Frame_Shift_Del_p.I320fs|MED12_ENST00000374102.1_Frame_Shift_Del_p.I320fs			Q93074	MED12_HUMAN	mediator complex subunit 12	320					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCTCATGTTATATCTGCTCA	0.554			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(955-960)GTTATAfs		mediator complex subunit 12																																				SO:0001589	frameshift_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341522_70341523delTA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.957_958delTA	X.37:g.70341524_70341525delTA	ENSP00000363193:p.Ile320fs					MED12_uc011mpq.1_Frame_Shift_Del_p.V319fs|MED12_uc004dyz.2_Frame_Shift_Del_p.V319fs|MED12_uc004dza.2_Frame_Shift_Del_p.V166fs	p.V319fs	NM_005120	NP_005111	Q93074	MED12_HUMAN			7	1156_1157	+	Renal(35;0.156)		319_320					O15410|O75557|Q9UHV6|Q9UND7	Frame_Shift_Del	DEL	ENST00000374080.3	37	c.957_958delTA	CCDS43970.1																																																																																				0.554	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
ACRC	93953	broad.mit.edu	37	X	70824283	70824283	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70824283C>T	ENST00000373695.1	+	7	1693	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	ACRC_ENST00000373696.3_Missense_Mutation_p.P386S			Q96QF7	ACRC_HUMAN	acidic repeat containing	386						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACCAAGTGATCCTGAGGCTAA	0.498																																						uc004eae.2																			0				ovary(3)	3						c.(1156-1158)CCT>TCT		ACRC protein							50.0	37.0	41.0					X																	70824283		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824283C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1156C>T	X.37:g.70824283C>T	ENSP00000362799:p.Pro386Ser					BCYRN1_uc011mpt.1_Intron	p.P386S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1657	+	Renal(35;0.156)		386					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1156C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	8.649	0.897761	0.17686	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	3.5	-1.97	0.07503	.	.	.	.	.	T	0.21801	0.0525	L	0.29908	0.895	0.09310	N	1	P	0.38504	0.634	B	0.35510	0.204	T	0.15549	-1.0433	9	0.24483	T	0.36	.	9.4314	0.38612	0.1199:0.6539:0.2262:0.0	.	386	Q96QF7	ACRC_HUMAN	S	386	ENSP00000362800:P386S;ENSP00000362799:P386S	ENSP00000362799:P386S	P	+	1	0	ACRC	70741008	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.833000	0.01695	-0.634000	0.05538	0.600000	0.82982	CCT		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
DRP2	1821	broad.mit.edu	37	X	100490945	100490945	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:100490945G>C	ENST00000395209.3	+	4	741	c.214G>C	c.(214-216)Gga>Cga	p.G72R	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.G72R|DRP2_ENST00000538510.1_Missense_Mutation_p.G72R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	72					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTGCCTCTGGACCCCTGGA	0.522																																						uc004egz.2																			0				ovary(2)	2						c.(214-216)GGA>CGA		dystrophin related protein 2							167.0	138.0	148.0					X																	100490945		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100490945G>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.214G>C	X.37:g.100490945G>C	ENSP00000378635:p.Gly72Arg					DRP2_uc011mrh.1_5'UTR	p.G72R	NM_001939	NP_001930	Q13474	DRP2_HUMAN			4	583	+			72					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.214G>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063501	0.20067	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.07567	3.18;3.18;3.18	5.55	3.8	0.43715	.	0.150864	0.43110	N	0.000603	T	0.05914	0.0154	N	0.16478	0.41	0.24593	N	0.993819	B	0.06786	0.001	B	0.06405	0.002	T	0.30001	-0.9993	10	0.54805	T	0.06	-2.1169	10.4791	0.44682	0.222:0.0:0.778:0.0	.	72	Q13474	DRP2_HUMAN	R	72	ENSP00000385038:G72R;ENSP00000378635:G72R;ENSP00000441051:G72R	ENSP00000362007:G72R	G	+	1	0	DRP2	100377601	0.897000	0.30589	0.054000	0.19295	0.452000	0.32318	1.148000	0.31614	0.690000	0.31570	0.600000	0.82982	GGA		0.522	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
TBC1D8B	54885	broad.mit.edu	37	X	106066520	106066521	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:106066520_106066521delAG	ENST00000357242.5	+	5	825_826	c.651_652delAG	c.(649-654)acagagfs	p.E218fs	TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.E218fs|TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.E218fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.E218fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	218							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E218fs*21(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATACTGACAGAGAGTATTCA	0.361																																						uc004emo.2																			2	Insertion - Frameshift(2)		liver(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(649-654)ACAGAGfs		TBC1 domain family, member 8B (with GRAM domain)			,	0,3721		0,0,0,1592,537					,	5.8	1.0			86	5,6479		1,1,2,2355,1768	no	frameshift,frameshift	TBC1D8B	NM_198881.1,NM_017752.2	,	1,1,2,3947,2305	A1A1,A1R,A1,RR,R		0.0771,0.0,0.049	,	,		5,10200				SO:0001589	frameshift_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106066520_106066521delAG	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.651_652delAG	X.37:g.106066524_106066525delAG	ENSP00000349781:p.Glu218fs					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Frame_Shift_Del_p.T217fs|TBC1D8B_uc004emn.2_Frame_Shift_Del_p.T217fs	p.T217fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			5	816_817	+			217_218					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Frame_Shift_Del	DEL	ENST00000357242.5	37	c.651_652delAG	CCDS14522.1																																																																																				0.361	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
MID2	11043	broad.mit.edu	37	X	107160962	107160962	+	Silent	SNP	G	G	A	rs534271877		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:107160962G>A	ENST00000262843.6	+	7	1976	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	476	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.A456A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCCGGGGCGCCACGAGGCA	0.483													G|||	7	0.0018543	0.0	0.0	3775	,	,		15961	0.0		0.0	False		,,,				2504	0.0072					uc004enl.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1426-1428)GCG>GCA		midline 2 isoform 1							107.0	90.0	96.0					X																	107160962		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160962G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1428G>A	X.37:g.107160962G>A						MID2_uc004enk.2_Intron	p.A476A	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			7	2001	+			476			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.1428G>A	CCDS14532.2																																																																																				0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	
ZNF75D	7626	broad.mit.edu	37	X	134428042	134428042	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:134428042C>T	ENST00000370766.3	-	3	2734	c.25G>A	c.(25-27)Gat>Aat	p.D9N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D9N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	9					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCATGAATCCGCGTTCAGC	0.478																																						uc004eyp.2																			0					0						c.(25-27)GAT>AAT		zinc finger protein 75							124.0	130.0	128.0					X																	134428042		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134428042C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.25G>A	X.37:g.134428042C>T	ENSP00000359802:p.Asp9Asn					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.D9N	p.D9N	NM_007131	NP_009062	P51815	ZN75D_HUMAN			3	2680	-			9					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.25G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545278	0.27652	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06449	3.3;3.3	3.17	-0.193	0.13244	.	.	.	.	.	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.002;0.003	T	0.48559	-0.9025	9	0.19147	T	0.46	.	5.9427	0.19201	0.0:0.5905:0.0:0.4095	.	9;9	P51815;A6NK62	ZN75D_HUMAN;.	N	9	ENSP00000359802:D9N;ENSP00000359800:D9N	ENSP00000359800:D9N	D	-	1	0	ZNF75D	134255708	0.023000	0.18921	0.000000	0.03702	0.010000	0.07245	0.633000	0.24598	-0.163000	0.10946	0.513000	0.50165	GAT		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
PDZD4	57595	broad.mit.edu	37	X	153069697	153069697	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:153069697C>G	ENST00000164640.4	-	8	1612	c.1421G>C	c.(1420-1422)gGg>gCg	p.G474A	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.G365A|PDZD4_ENST00000393758.2_Missense_Mutation_p.G399A	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	474						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCTCCCCAGTGTTGTA	0.682																																						uc004fiz.1																			0				breast(1)	1						c.(1420-1422)GGG>GCG		PDZ domain containing 4							13.0	16.0	15.0					X																	153069697		2192	4273	6465	SO:0001583	missense	57595					cell cortex		g.chrX:153069697C>G	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1421G>C	X.37:g.153069697C>G	ENSP00000164640:p.Gly474Ala					PDZD4_uc004fiy.1_Missense_Mutation_p.G399A|PDZD4_uc004fix.2_Missense_Mutation_p.G378A|PDZD4_uc004fja.1_Missense_Mutation_p.G480A|PDZD4_uc011mze.1_Missense_Mutation_p.G365A	p.G474A	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	1671	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		474					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1421G>C	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.832032	0.32421	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.07216	3.21;3.24;3.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	L	0.29908	0.895	0.58432	D	0.999999	P;D;D;D;P	0.89917	0.923;0.995;1.0;1.0;0.923	P;D;D;D;P	0.91635	0.545;0.968;0.999;0.999;0.545	T	0.13442	-1.0509	10	0.19147	T	0.46	-47.8417	16.4496	0.83976	0.0:1.0:0.0:0.0	.	365;480;474;399;378	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	A	474;399;378;365	ENSP00000164640:G474A;ENSP00000377355:G399A;ENSP00000442033:G365A	ENSP00000164640:G474A	G	-	2	0	PDZD4	152722891	0.993000	0.37304	0.227000	0.23927	0.855000	0.48748	3.237000	0.51344	2.139000	0.66308	0.436000	0.28706	GGG		0.682	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	
