#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHL17	339451	broad.mit.edu	37	1	898278	898278	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:898278G>A	ENST00000338591.3	+	6	1130	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	341	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.G341G(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGGCCGGGCCTGTGCTTT	0.677																																							uc001aca.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1021-1023)GGG>GGA		kelch-like 17							18.0	24.0	22.0					1																	898278		2180	4283	6463	SO:0001819	synonymous_variant	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:898278G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1023G>A	1.37:g.898278G>A						KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Silent_p.G64G	p.G341G	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1130	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	341			Interaction with F-actin (By similarity).		Q5SV94	Silent	SNP	ENST00000338591.3	37	c.1023G>A	CCDS30550.1																																																																																				0.677	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		6	14	0	0	0	0.001168	0	6	14				
AGRN	375790	broad.mit.edu	37	1	981168	981168	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:981168G>A	ENST00000379370.2	+	15	2642	c.2592G>A	c.(2590-2592)ggG>ggA	p.G864G		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	864	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.G864G(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGATGACGGGGCTGTGCTCGT	0.667																																							uc001ack.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(2590-2592)GGG>GGA		agrin precursor							77.0	80.0	79.0					1																	981168		2203	4300	6503	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981168G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2592G>A	1.37:g.981168G>A							p.G864G	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	15	2642	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	864			Laminin EGF-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.2592G>A	CCDS30551.1																																																																																				0.667	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		20	37	0	0	0	0.003954	0	20	37				
AGRN	375790	broad.mit.edu	37	1	986125	986125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:986125C>A	ENST00000379370.2	+	30	5211	c.5161C>A	c.(5161-5163)Ctg>Atg	p.L1721M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1721	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.L1721M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCAGTCACCCTGGGAGCCTG	0.711																																							uc001ack.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(5161-5163)CTG>ATG		agrin precursor							17.0	23.0	21.0					1																	986125		2195	4286	6481	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:986125C>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5161C>A	1.37:g.986125C>A	ENSP00000368678:p.Leu1721Met						p.L1721M	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	30	5211	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1721			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5161C>A	CCDS30551.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.91|13.91	2.378276|2.378276	0.42207|0.42207	.|.	.|.	ENSG00000188157|ENSG00000188157	ENST00000379370;ENST00000379364|ENST00000419249	T|.	0.79554|.	-1.28|.	4.42|4.42	2.43|2.43	0.29744|0.29744	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);|.	0.000000|.	0.49916|.	U|.	0.000135|.	T|T	0.62060|0.62060	0.2397|0.2397	M|M	0.68952|0.68952	2.095|2.095	0.51012|0.51012	D|D	0.999906|0.999906	D|.	0.60575|.	0.988|.	P|.	0.58820|.	0.846|.	T|T	0.58781|0.58781	-0.7576|-0.7576	10|5	0.38643|.	T|.	0.18|.	-9.2073|-9.2073	8.1259|8.1259	0.30999|0.30999	0.0:0.7562:0.1559:0.0879|0.0:0.7562:0.1559:0.0879	.|.	1721|.	O00468|.	AGRIN_HUMAN|.	M|H	1721;60|19	ENSP00000368678:L1721M|.	ENSP00000368671:L60M|.	L|P	+|+	1|2	2|0	AGRN|AGRN	975988|975988	0.848000|0.848000	0.29623|0.29623	0.798000|0.798000	0.32154|0.32154	0.643000|0.643000	0.38383|0.38383	0.864000|0.864000	0.27926|0.27926	0.811000|0.811000	0.34303|0.34303	0.197000|0.197000	0.17608|0.17608	CTG|CCT		0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		3	6	1	0	0.00909568	0.009096	0.00941403	3	6				
CFAP74	85452	broad.mit.edu	37	1	1887107	1887107	+	IGR	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:1887107C>A								TMEM52 (36395 upstream) : C1orf222 (32455 downstream)														p.K733N(1)									CCCACCCTGGCTTGGCCTGGC	0.662																																							uc001aim.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2197-2199)AAG>AAT		hypothetical protein LOC85452							44.0	49.0	47.0					1																	1887107		2034	4163	6197	SO:0001628	intergenic_variant	85452							g.chr1:1887107C>A																													1.37:g.1887107C>A						KIAA1751_uc009vkz.1_Intron	p.K733N	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	18	2355	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	733						Missense_Mutation	SNP		37	c.2199G>T		.	.	.	.	.	.	.	.	.	.	C	11.05	1.524788	0.27299	.	.	ENSG00000142609	ENST00000270720	.	.	.	1.2	-0.943	0.10395	.	1.576770	0.04477	U	0.377140	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	P	0.35821	0.523	B	0.22601	0.04	T	0.13176	-1.0519	9	0.51188	T	0.08	.	3.9139	0.09214	0.0:0.5023:0.0:0.4977	.	733	Q9C0B2	K1751_HUMAN	N	733	.	ENSP00000270720:K733N	K	-	3	2	C1orf222	1876967	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.258000	0.08733	-0.346000	0.08312	0.407000	0.27541	AAG	0	0.662									44	41	1	0	2.55665e-31	0.00361	4.68342e-31	44	41				
HES3	390992	broad.mit.edu	37	1	6305549	6305549	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:6305549C>A	ENST00000377898.3	+	4	608	c.543C>A	c.(541-543)ccC>ccA	p.P181P		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	181					hindbrain morphogenesis (GO:0021575)|in utero embryonic development (GO:0001701)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oculomotor nerve development (GO:0021557)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription, DNA-templated (GO:0006351)|trochlear nerve development (GO:0021558)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)	p.P181P(1)		lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GGGGAAGCCCCGGGGATGACC	0.697																																							uc009vly.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)CCC>CCA		hairy and enhancer of split 3							10.0	12.0	11.0					1																	6305549		1698	3821	5519	SO:0001819	synonymous_variant	390992				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:6305549C>A		CCDS41238.1	1p36.31	2013-10-17	2013-10-17		ENSG00000173673	ENSG00000173673		"""Basic helix-loop-helix proteins"""	26226	protein-coding gene	gene with protein product		609971	"""hairy and enhancer of split 3 (Drosophila)"""				Standard	NM_001024598		Approved	bHLHb43	uc009vly.2	Q5TGS1	OTTHUMG00000001271	ENST00000377898.3:c.543C>A	1.37:g.6305549C>A							p.P181P	NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)	4	598	+	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	181					Q5TGS0	Silent	SNP	ENST00000377898.3	37	c.543C>A	CCDS41238.1																																																																																				0.697	HES3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003716.3	NM_001024598		5	5	1	0	8.12818e-05	0.001984	9.07842e-05	5	5				
SLC45A1	50651	broad.mit.edu	37	1	8384429	8384429	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:8384429C>A	ENST00000471889.1	+	2	425	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	SLC45A1_ENST00000289877.8_Missense_Mutation_p.L14I|SLC45A1_ENST00000377479.2_Missense_Mutation_p.L48I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	14					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L14I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGATGCCCTCTTCCCCAG	0.657																																							uc001apb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(40-42)CTC>ATC		DNB5							45.0	52.0	50.0					1																	8384429		2203	4297	6500	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8384429C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.40C>A	1.37:g.8384429C>A	ENSP00000418096:p.Leu14Ile						p.L14I	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	1	40	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	14					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.40C>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	5.139	0.211257	0.09757	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.22336	1.96;1.98;1.96	4.32	-0.262	0.12958	.	0.578137	0.17901	N	0.158199	T	0.15046	0.0363	L	0.36672	1.1	0.21802	N	0.999531	B	0.16166	0.016	B	0.15484	0.013	T	0.15925	-1.0420	10	0.62326	D	0.03	-7.7983	8.5543	0.33471	0.0:0.6145:0.231:0.1545	.	14	Q9Y2W3	S45A1_HUMAN	I	14;48;14	ENSP00000418096:L14I;ENSP00000366699:L48I;ENSP00000289877:L14I	ENSP00000289877:L14I	L	+	1	0	SLC45A1	8307016	0.011000	0.17503	0.377000	0.26055	0.043000	0.13939	0.043000	0.13971	-0.553000	0.06158	-2.511000	0.00188	CTC		0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			31	45	1	0	1.39806e-14	0.008361	2.07702e-14	31	45				
MIIP	60672	broad.mit.edu	37	1	12089915	12089915	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:12089915A>G	ENST00000235332.4	+	7	978	c.809A>G	c.(808-810)cAg>cGg	p.Q270R	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.Q270R	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	270	Interaction with IGFBP2.							p.Q270R(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAGACCAGCAGGGCCCTGGG	0.637																																							uc001ato.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)CAG>CGG		invasion inhibitory protein 45							37.0	35.0	36.0					1																	12089915		2203	4299	6502	SO:0001583	missense	60672							g.chr1:12089915A>G	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.809A>G	1.37:g.12089915A>G	ENSP00000235332:p.Gln270Arg						p.Q270R	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			7	989	+			270			Interaction with IGFBP2.		C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.809A>G	CCDS143.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.476391	0.01035	.	.	ENSG00000116691	ENST00000235332;ENST00000436478	T;T	0.33865	1.39;1.39	5.19	-0.348	0.12613	.	0.544981	0.16947	N	0.193057	T	0.10508	0.0257	N	0.01168	-0.975	0.21802	N	0.999539	B	0.06786	0.001	B	0.08055	0.003	T	0.35871	-0.9771	10	0.09338	T	0.73	-12.4661	9.2419	0.37502	0.1605:0.0:0.8395:0.0	.	270	Q5JXC2	MIIP_HUMAN	R	270	ENSP00000235332:Q270R;ENSP00000392417:Q270R	ENSP00000235332:Q270R	Q	+	2	0	MIIP	12012502	0.009000	0.17119	0.946000	0.38457	0.018000	0.09664	-0.750000	0.04808	-0.316000	0.08690	-0.608000	0.04076	CAG		0.637	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		11	10	0	0	0	0.001855	0	11	10				
TNFRSF1B	7133	broad.mit.edu	37	1	12248921	12248921	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:12248921A>T	ENST00000376259.3	+	2	236	c.147A>T	c.(145-147)acA>acT	p.T49T	TNFRSF1B_ENST00000536782.1_Silent_p.T49T|TNFRSF1B_ENST00000492361.1_Intron|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	49					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.T49T(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGACCAGACAGCTCAGATGT	0.632																																							uc001att.2		NA																	1	Substitution - coding silent(1)		lung(1)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(145-147)ACA>ACT		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						50.0	52.0	52.0					1																	12248921		2203	4300	6503	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12248921A>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.147A>T	1.37:g.12248921A>T						TNFRSF1B_uc001atu.2_Intron|TNFRSF1B_uc009vnk.2_RNA	p.T49T	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	2	236	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	49			Extracellular (Potential).|TNFR-Cys 1.		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.147A>T	CCDS145.1																																																																																				0.632	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		12	30	0	0	0	0.010729	0	12	30				
TMEM82	388595	broad.mit.edu	37	1	16070900	16070900	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:16070900G>T	ENST00000375782.1	+	4	720	c.582G>T	c.(580-582)ctG>ctT	p.L194L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	194	Leu-rich.					integral component of membrane (GO:0016021)		p.L194L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCTGGCCCATGCAC	0.701																																							uc001axc.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(580-582)CTG>CTT		transmembrane protein 82							18.0	17.0	17.0					1																	16070900		2192	4285	6477	SO:0001819	synonymous_variant	388595					integral to membrane		g.chr1:16070900G>T		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.582G>T	1.37:g.16070900G>T							p.L194L	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	720	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	194			Leu-rich.		B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	c.582G>T	CCDS30608.1																																																																																				0.701	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		4	3	1	0	0.00909568	0.009096	0.00941403	4	3				
PADI1	29943	broad.mit.edu	37	1	17548814	17548815	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:17548814_17548815GG>TT	ENST00000375471.4	+	2	214_215	c.122_123GG>TT	c.(121-123)aGG>aTT	p.R41I		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	41					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R41I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACAGCTTCAGGGTCTCTGGAA	0.579																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(121-123)AGG>ATT		peptidylarginine deiminase type I	L-Citrulline(DB00155)																																			SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548814_17548815GG>TT	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	Exception_encountered	1.37:g.17548814_17548815delinsTT	ENSP00000364620:p.Arg41Ile						p.R41I	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	214_215	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	41					A1L4K6|Q70SX6	Missense_Mutation	DNP	ENST00000375471.4	37	c.122_123GG>TT	CCDS178.1																																																																																				0.579	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		10	39	0	0	0	0.004672	0	10	39				
TMCO4	255104	broad.mit.edu	37	1	20009803	20009804	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:20009803_20009804CT>AA	ENST00000294543.6	-	16	1875_1876	c.1634_1635AG>TT	c.(1633-1635)cAG>cTT	p.Q545L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.Q545L|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q505L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	545						integral component of membrane (GO:0016021)		p.Q545L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGCTGCTGCCTGGCGAGGCTC	0.663																																							uc001bcn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1633-1635)CAG>CTT		transmembrane and coiled-coil domains 4																																				SO:0001583	missense	255104					integral to membrane		g.chr1:20009803_20009804CT>AA		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1634_1635delinsAA	1.37:g.20009803_20009804delinsAA	ENSP00000294543:p.Gln545Leu					TMCO4_uc001bcm.2_Missense_Mutation_p.Q376L|TMCO4_uc001bco.1_Missense_Mutation_p.Q545L|TMCO4_uc001bcp.1_Missense_Mutation_p.Q505L	p.Q545L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1876_1877	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	545					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	DNP	ENST00000294543.6	37	c.1634_1635AG>TT	CCDS198.1																																																																																				0.663	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		27	26	0	0	0	0.004672	0	27	26				
LUZP1	7798	broad.mit.edu	37	1	23418280	23418280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:23418280C>A	ENST00000302291.4	-	4	3276	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	LUZP1_ENST00000314174.5_Missense_Mutation_p.Q825H|LUZP1_ENST00000418342.1_Missense_Mutation_p.Q825H|LUZP1_ENST00000374623.3_Missense_Mutation_p.Q825H			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	825					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.Q825H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCAGCCCCACCTGGATATTGC	0.537																																							uc001bgk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2473-2475)CAG>CAT		leucine zipper protein 1							82.0	77.0	79.0					1																	23418280		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418280C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2475G>T	1.37:g.23418280C>A	ENSP00000303758:p.Gln825His					LUZP1_uc010odv.1_Missense_Mutation_p.Q825H|LUZP1_uc001bgl.2_Missense_Mutation_p.Q825H|LUZP1_uc001bgm.1_Missense_Mutation_p.Q825H	p.Q825H	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2859	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	825					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2475G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668903	0.29604	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15139	2.67;2.67;2.67;2.45	5.28	3.25	0.37280	.	0.000000	0.46145	D	0.000319	T	0.17408	0.0418	L	0.57536	1.79	0.26581	N	0.97338	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.12889	-1.0530	10	0.49607	T	0.09	.	9.8025	0.40773	0.0:0.6606:0.2641:0.0753	.	825;825	Q86V48-2;Q86V48	.;LUZP1_HUMAN	H	825	ENSP00000393460:Q825H;ENSP00000363752:Q825H;ENSP00000303758:Q825H;ENSP00000313705:Q825H	ENSP00000303758:Q825H	Q	-	3	2	LUZP1	23290867	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	0.553000	0.23391	1.216000	0.43427	0.485000	0.47835	CAG		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		24	34	1	0	1.64293e-13	0.00333	2.35083e-13	24	34				
PAFAH2	5051	broad.mit.edu	37	1	26310565	26310565	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:26310565C>A	ENST00000374282.3	-	6	603	c.424G>T	c.(424-426)Gca>Tca	p.A142S	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.A142S	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	142					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.A142S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGTGGTTGCCGCTGACCGG	0.498																																							uc001bld.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(424-426)GCA>TCA		platelet-activating factor acetylhydrolase 2							148.0	159.0	155.0					1																	26310565		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26310565C>A	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.424G>T	1.37:g.26310565C>A	ENSP00000363400:p.Ala142Ser					PAFAH2_uc001ble.3_Missense_Mutation_p.A142S	p.A142S	NM_000437	NP_000428	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	6	604	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	142					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.424G>T	CCDS270.1	.	.	.	.	.	.	.	.	.	.	C	3.754	-0.050891	0.07407	.	.	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.50813	1.48;1.48;0.73;0.73	5.6	2.33	0.28932	.	0.226234	0.31358	N	0.007794	T	0.20333	0.0489	N	0.02775	-0.495	0.32283	N	0.567384	B	0.19073	0.033	B	0.21151	0.033	T	0.23940	-1.0174	10	0.08837	T	0.75	-5.5665	11.6846	0.51479	0.6232:0.3768:0.0:0.0	.	142	Q99487	PAFA2_HUMAN	S	142;142;147;142	ENSP00000363400:A142S;ENSP00000363402:A142S;ENSP00000408313:A147S;ENSP00000411011:A142S	ENSP00000363400:A142S	A	-	1	0	PAFAH2	26183152	0.358000	0.24947	0.912000	0.35992	0.942000	0.58702	0.858000	0.27845	0.664000	0.31047	0.561000	0.74099	GCA		0.498	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		31	122	1	0	4.31634e-10	0.012213	5.75203e-10	31	122				
FGR	2268	broad.mit.edu	37	1	27949654	27949654	+	Splice_Site	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:27949654C>T	ENST00000374005.3	-	4	516	c.228G>A	c.(226-228)ggG>ggA	p.G76G	FGR_ENST00000374004.1_Splice_Site_p.G76G|FGR_ENST00000545953.1_Splice_Site_p.G76G|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000399173.1_Splice_Site_p.G76G	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	76					blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)	p.G76G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCCCAATCCCTGCAGAGT	0.572																																							uc001boj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(226-228)GGG>GGA		proto-oncogene tyrosine-protein kinase FGR							129.0	98.0	108.0					1																	27949654		2203	4300	6503	SO:0001630	splice_region_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949654C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.227-1G>A	1.37:g.27949654C>T						FGR_uc001bok.2_Silent_p.G76G|FGR_uc001bol.2_Silent_p.G76G|FGR_uc001bom.2_Silent_p.G76G	p.G76G	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	374	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	76					D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.228G>A	CCDS305.1																																																																																				0.572	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248	Silent	7	15	0	0	0	0.001984	0	7	15				
BAI2	576	broad.mit.edu	37	1	32222212	32222212	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:32222212T>A	ENST00000373658.3	-	4	567	c.226A>T	c.(226-228)Aag>Tag	p.K76*	MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.K79*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.K76*|BAI2_ENST00000373655.2_Nonsense_Mutation_p.K76*|BAI2_ENST00000398542.1_Nonsense_Mutation_p.K64*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.K76*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.K64*	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	76					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K76*(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGGGAGTACTTGGTGGGGTCA	0.642																																							uc001btn.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(226-228)AAG>TAG		brain-specific angiogenesis inhibitor 2							53.0	52.0	52.0					1																	32222212		2203	4299	6502	SO:0001587	stop_gained	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32222212T>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.226A>T	1.37:g.32222212T>A	ENSP00000362762:p.Lys76*					BAI2_uc010ogp.1_Nonsense_Mutation_p.K64*|BAI2_uc010ogq.1_Nonsense_Mutation_p.K76*|BAI2_uc001bto.2_Nonsense_Mutation_p.K76*|BAI2_uc001btq.1_Nonsense_Mutation_p.K64*|BAI2_uc010ogr.1_Nonsense_Mutation_p.K64*	p.K76*	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	580	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	76			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Nonsense_Mutation	SNP	ENST00000373658.3	37	c.226A>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860957	0.91433	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	.	.	.	5.04	5.04	0.67666	.	0.000000	0.45126	D	0.000383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0689	0.64849	0.0:0.0:0.0:1.0	.	.	.	.	X	79;64;76;76;64;76;76;64;69;110	.	ENSP00000257070:K76X	K	-	1	0	BAI2	31994799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.746000	0.62133	2.028000	0.59812	0.379000	0.24179	AAG		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	11	0	0	0	0.001984	0	6	11				
CSMD2	114784	broad.mit.edu	37	1	34038154	34038154	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:34038154G>T	ENST00000373381.4	-	50	7890	c.7714C>A	c.(7714-7716)Ctg>Atg	p.L2572M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2574	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2574M(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGTGTCCAGACACTCTGCA	0.587																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7720-7722)CTG>ATG		CUB and Sushi multiple domains 2							143.0	123.0	130.0					1																	34038154		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34038154G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7714C>A	1.37:g.34038154G>T	ENSP00000362479:p.Leu2572Met					CSMD2_uc001bxm.1_Missense_Mutation_p.L2572M	p.L2574M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			51	7749	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2574			Extracellular (Potential).|Sushi 15.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7720C>A		.	.	.	.	.	.	.	.	.	.	G	18.02	3.531005	0.64972	.	.	ENSG00000121904	ENST00000373381	T	0.66460	-0.21	5.65	4.75	0.60458	Complement control module (2);Sushi/SCR/CCP (3);	0.077455	0.53938	D	0.000051	T	0.76608	0.4011	L	0.57130	1.785	0.80722	D	1	D;D	0.59357	0.985;0.971	D;P	0.68192	0.956;0.796	T	0.74551	-0.3628	10	0.30854	T	0.27	.	13.7184	0.62712	0.0739:0.0:0.9261:0.0	.	2574;2572	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	2572	ENSP00000362479:L2572M	ENSP00000241312:L2574M	L	-	1	2	CSMD2	33810741	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.749000	0.68704	1.408000	0.46895	0.591000	0.81541	CTG		0.587	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		52	41	1	0	3.50607e-19	0.00361	5.7906e-19	52	41				
GJA4	2701	broad.mit.edu	37	1	35260672	35260672	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:35260672C>A	ENST00000342280.4	+	2	946	c.858C>A	c.(856-858)tcC>tcA	p.S286S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	286					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)		p.S286S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCTCTCATCCAGTGAGCAGA	0.627																																							uc001bya.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)TCC>TCA		connexin 37							52.0	49.0	50.0					1																	35260672		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260672C>A	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.858C>A	1.37:g.35260672C>A						GJA4_uc009vul.2_Silent_p.S362S|GJA4_uc009vum.1_Silent_p.S286S	p.S286S	NM_002060	NP_002051	P35212	CXA4_HUMAN			2	946	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	286			Cytoplasmic (Potential).		A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.858C>A	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	3.535	-0.094855	0.07010	.	.	ENSG00000187513	ENST00000543143	.	.	.	5.52	4.6	0.57074	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61267	-0.7097	5	0.44086	T	0.13	.	9.5136	0.39091	0.1398:0.7878:0.0:0.0724	.	.	.	.	Q	286	.	ENSP00000441206:P286Q	P	+	2	0	GJA4	35033259	0.997000	0.39634	0.992000	0.48379	0.738000	0.42128	0.734000	0.26101	2.579000	0.87056	0.561000	0.74099	CCA		0.627	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		4	11	1	0	0.00116845	0.001168	0.00125755	4	11				
DLGAP3	58512	broad.mit.edu	37	1	35334650	35334650	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:35334650C>T	ENST00000373347.1	-	9	2309	c.2041G>A	c.(2041-2043)Gtg>Atg	p.V681M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V681M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	681					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.V681M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTGCCTGCACGCCAGCCGTC	0.657																																							uc001byc.2		NA																	2	Substitution - Missense(2)	p.V681M(1)	ovary(1)|lung(1)	ovary(3)	3						c.(2041-2043)GTG>ATG		discs, large (Drosophila) homolog-associated							16.0	14.0	15.0					1																	35334650		2132	4101	6233	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334650C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2041G>A	1.37:g.35334650C>T	ENSP00000362444:p.Val681Met						p.V681M	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			7	2041	-		Myeloproliferative disorder(586;0.0393)	681					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2041G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712884	0.89112	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.20332	2.08;2.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.59037	-0.7529	10	0.87932	D	0	-12.7276	19.2575	0.93951	0.0:1.0:0.0:0.0	.	681	O95886	DLGP3_HUMAN	M	681	ENSP00000362444:V681M;ENSP00000235180:V681M	ENSP00000235180:V681M	V	-	1	0	DLGAP3	35107237	1.000000	0.71417	0.995000	0.50966	0.902000	0.53008	5.804000	0.69135	2.778000	0.95560	0.650000	0.86243	GTG		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		5	9	0	0	0	0.001168	0	5	9				
TAL1	6886	broad.mit.edu	37	1	47685773	47685773	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:47685773C>A	ENST00000294339.3	-	4	1191	c.615G>T	c.(613-615)ggG>ggT	p.G205G	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Silent_p.G207G|TAL1_ENST00000371884.2_Silent_p.G205G	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	205	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G205G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CGGCAAAGGCCCCGTTCACAT	0.562			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																		uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(613-615)GGG>GGT		T-cell acute lymphocytic leukemia 1							54.0	52.0	52.0					1																	47685773		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685773C>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.615G>T	1.37:g.47685773C>A						TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.G205G	p.G205G	NM_003189	NP_003180	P17542	TAL1_HUMAN			4	1192	-			205			Helix-loop-helix motif.		D3DQ24	Silent	SNP	ENST00000294339.3	37	c.615G>T	CCDS547.1																																																																																				0.562	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		8	20	1	0	1.12685e-05	0.004482	1.2911e-05	8	20				
DMRTB1	63948	broad.mit.edu	37	1	53930518	53930518	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:53930518C>A	ENST00000371445.3	+	3	1014	c.959C>A	c.(958-960)aCt>aAt	p.T320N		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	320					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T320N(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AAGGAGAACACTGGTGAGTGA	0.552																																							uc001cvq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(958-960)ACT>AAT		DMRT-like family B with proline-rich C-terminal,							118.0	117.0	117.0					1																	53930518		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930518C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.959C>A	1.37:g.53930518C>A	ENSP00000360500:p.Thr320Asn						p.T320N	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			3	1014	+			320					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.959C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976439	0.53720	.	.	ENSG00000143006	ENST00000371445	T	0.33216	1.42	4.34	4.34	0.51931	.	2.201110	0.02162	N	0.058907	T	0.48114	0.1482	M	0.67953	2.075	0.09310	N	1	D	0.61697	0.99	P	0.51657	0.676	T	0.34229	-0.9837	10	0.72032	D	0.01	-1.8155	9.9044	0.41366	0.2032:0.7968:0.0:0.0	.	320	Q96MA1	DMRTB_HUMAN	N	320	ENSP00000360500:T320N	ENSP00000360500:T320N	T	+	2	0	DMRTB1	53703106	0.004000	0.15560	0.454000	0.27019	0.692000	0.40212	0.929000	0.28844	2.415000	0.81967	0.462000	0.41574	ACT		0.552	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			30	34	1	0	8.73648e-17	0.004289	1.35634e-16	30	34				
C1orf87	127795	broad.mit.edu	37	1	60538214	60538214	+	Silent	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:60538214T>A	ENST00000371201.3	-	2	209	c.102A>T	c.(100-102)ccA>ccT	p.P34P	C1orf87_ENST00000450089.2_Silent_p.P34P	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	34							calcium ion binding (GO:0005509)	p.P34P(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTACATCTTTGGCTTCTCCA	0.363																																					NSCLC(75;811 1386 4923 13371 51772)	NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(100-102)CCA>CCT		hypothetical protein LOC127795							111.0	109.0	110.0					1																	60538214		2203	4300	6503	SO:0001819	synonymous_variant	127795						calcium ion binding	g.chr1:60538214T>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.102A>T	1.37:g.60538214T>A							p.P34P	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			2	194	-			34					Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	c.102A>T	CCDS614.1																																																																																				0.363	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		20	176	0	0	0	0.010504	0	20	176				
KANK4	163782	broad.mit.edu	37	1	62739527	62739527	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:62739527C>A	ENST00000371153.4	-	3	1627	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	417						cytoplasm (GO:0005737)		p.D417Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGACAGGGTCAGTGTTCACC	0.537																																							uc001dah.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(1249-1251)GAC>TAC		ankyrin repeat domain 38							208.0	180.0	190.0					1																	62739527		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739527C>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1249G>T	1.37:g.62739527C>A	ENSP00000360195:p.Asp417Tyr					KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	p.D417Y	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			3	1626	-			417					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1249G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172627	0.78452	.	.	ENSG00000132854	ENST00000371153	T	0.51071	0.72	5.35	5.35	0.76521	.	0.173528	0.27932	N	0.017270	T	0.60599	0.2281	L	0.60455	1.87	0.80722	D	1	D	0.63046	0.992	P	0.54499	0.754	T	0.63484	-0.6627	10	0.72032	D	0.01	-16.8031	19.0451	0.93016	0.0:1.0:0.0:0.0	.	417	Q5T7N3	KANK4_HUMAN	Y	417	ENSP00000360195:D417Y	ENSP00000360195:D417Y	D	-	1	0	KANK4	62512115	0.577000	0.26708	0.881000	0.34555	0.187000	0.23431	2.877000	0.48506	2.677000	0.91161	0.561000	0.74099	GAC		0.537	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		32	414	1	0	3.21399e-22	0.004878	5.49832e-22	32	414				
LEPR	3953	broad.mit.edu	37	1	66102113	66102113	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:66102113G>T	ENST00000349533.6	+	20	3098	c.2913G>T	c.(2911-2913)gaG>gaT	p.E971D	LEPR_ENST00000406510.3_Missense_Mutation_p.E38D	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.E971D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGTACTGAGGTAACCTATG	0.438																																							uc001dci.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2911-2913)GAG>GAT		leptin receptor isoform 1							109.0	98.0	102.0					1																	66102113		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102113G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2913G>T	1.37:g.66102113G>T	ENSP00000330393:p.Glu971Asp					LEPR_uc009waq.2_3'UTR	p.E971D	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3115	+			971			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2913G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902373	0.02453	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.57107	0.42	5.78	2.74	0.32292	.	2.119150	0.01371	N	0.012589	T	0.11024	0.0269	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15752	-1.0426	10	0.07482	T	0.82	2.2206	6.3362	0.21296	0.0684:0.3738:0.4292:0.1285	.	971	P48357	LEPR_HUMAN	D	971;38	ENSP00000330393:E971D	ENSP00000330393:E971D	E	+	3	2	LEPR	65874701	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	0.267000	0.18552	0.294000	0.22547	0.650000	0.86243	GAG		0.438	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		22	170	1	0	2.27731e-05	0.012319	2.58067e-05	22	170				
LEPR	3953	broad.mit.edu	37	1	66102442	66102442	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:66102442G>T	ENST00000349533.6	+	20	3427	c.3242G>T	c.(3241-3243)gGg>gTg	p.G1081V	LEPR_ENST00000406510.3_Missense_Mutation_p.G148V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.G1081V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATTATTTAGGGGTCACCTCA	0.413																																							uc001dci.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3241-3243)GGG>GTG		leptin receptor isoform 1							64.0	69.0	67.0					1																	66102442		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102442G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3242G>T	1.37:g.66102442G>T	ENSP00000330393:p.Gly1081Val					LEPR_uc009waq.2_3'UTR	p.G1081V	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3444	+			1081			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3242G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261295	0.39995	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.60424	0.19	5.73	5.73	0.89815	.	0.377767	0.29676	N	0.011491	T	0.68970	0.3059	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72043	-0.4409	10	0.72032	D	0.01	-13.1912	13.1376	0.59417	0.073:0.0:0.927:0.0	.	1081	P48357	LEPR_HUMAN	V	1081;148	ENSP00000330393:G1081V	ENSP00000330393:G1081V	G	+	2	0	LEPR	65875030	1.000000	0.71417	0.984000	0.44739	0.023000	0.10783	4.000000	0.57039	2.697000	0.92050	0.650000	0.86243	GGG		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		171	33	1	0	6.77334e-58	0.00361	1.30224e-57	171	33				
TCTEX1D1	200132	broad.mit.edu	37	1	67242971	67242971	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:67242971G>T	ENST00000282670.2	+	5	502	c.374G>T	c.(373-375)cGg>cTg	p.R125L		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	125								p.R125L(1)		large_intestine(2)|lung(10)|skin(1)	13						ATGATTCCACGGTATAAACTA	0.383																																							uc001dcv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CGG>CTG		Tctex1 domain containing 1							127.0	128.0	128.0					1																	67242971		2203	4300	6503	SO:0001583	missense	200132							g.chr1:67242971G>T	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.374G>T	1.37:g.67242971G>T	ENSP00000282670:p.Arg125Leu					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.R125L	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			5	505	+			125					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.374G>T	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696142	0.48202	.	.	ENSG00000152760	ENST00000282670	T	0.33865	1.39	5.83	4.93	0.64822	.	0.047074	0.85682	D	0.000000	T	0.64371	0.2592	H	0.96175	3.78	0.80722	D	1	P	0.52316	0.952	D	0.65323	0.934	T	0.77797	-0.2453	10	0.87932	D	0	-29.4736	14.8829	0.70547	0.0692:0.0:0.9308:0.0	.	125	Q8N7M0	TC1D1_HUMAN	L	125	ENSP00000282670:R125L	ENSP00000282670:R125L	R	+	2	0	TCTEX1D1	67015559	1.000000	0.71417	0.962000	0.40283	0.028000	0.11728	5.921000	0.70028	1.493000	0.48517	-0.126000	0.14955	CGG		0.383	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		114	49	1	0	1.25929e-39	0.00361	2.37696e-39	114	49				
FPGT	8790	broad.mit.edu	37	1	74670277	74670277	+	Silent	SNP	G	G	A	rs139749795	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:74670277G>A	ENST00000609362.1	+	4	583	c.546G>A	c.(544-546)agG>agA	p.R182R	FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Silent_p.R195R|FPGT_ENST00000370894.5_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	182					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R182R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGTTTATTAGGTTTGACAAAC	0.353													G|||	15	0.00299521	0.0113	0.0	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0						uc001dgb.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(544-546)AGG>AGA		fucose-1-phosphate guanyltransferase		G	,,,,	49,4357	51.6+/-87.1	2,45,2156	113.0	111.0	111.0		,,,,546	-11.1	0.0	1	dbSNP_134	111	0,8600		0,0,4300	no	intron,intron,intron,intron,coding-synonymous	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,	2,45,6456	AA,AG,GG		0.0,1.1121,0.3767	,,,,	,,,,182/595	74670277	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670277G>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.546G>A	1.37:g.74670277G>A						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.R182R	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	583	+			182					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.546G>A	CCDS663.1																																																																																				0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	147	0	0	0	0.003163	0	16	147				
ERICH3	127254	broad.mit.edu	37	1	75055605	75055605	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:75055605G>A	ENST00000326665.5	-	12	2104	c.1886C>T	c.(1885-1887)cCa>cTa	p.P629L	C1orf173_ENST00000420661.2_Missense_Mutation_p.P432L|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		629	Glu-rich.							p.P629L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGACTTTCTTGGCTTATCATT	0.448																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1885-1887)CCA>CTA		hypothetical protein LOC127254							121.0	120.0	120.0					1																	75055605		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055605G>A																												ENST00000326665.5:c.1886C>T	1.37:g.75055605G>A	ENSP00000322609:p.Pro629Leu					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P423L	p.P629L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2105	-			629			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1886C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072582	0.36566	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.20200	2.52;2.09	4.97	1.79	0.24919	.	.	.	.	.	T	0.11281	0.0275	L	0.50333	1.59	0.09310	N	0.999999	P;P	0.52316	0.775;0.952	B;P	0.51701	0.382;0.677	T	0.10200	-1.0640	9	0.35671	T	0.21	-2.303	4.0193	0.09658	0.0931:0.1587:0.5854:0.1629	.	432;629	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	L	629;432	ENSP00000322609:P629L;ENSP00000398581:P432L	ENSP00000322609:P629L	P	-	2	0	C1orf173	74828193	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.042000	0.12063	0.583000	0.29574	-0.152000	0.13540	CCA		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			12	141	0	0	0	0.003163	0	12	141				
ERICH3	127254	broad.mit.edu	37	1	75055645	75055645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:75055645T>A	ENST00000326665.5	-	12	2064	c.1846A>T	c.(1846-1848)Aga>Tga	p.R616*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.R419*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		616	Glu-rich.							p.R616*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGACCTTCTGGCACTTTCA	0.443																																							uc001dgg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1846-1848)AGA>TGA		hypothetical protein LOC127254							96.0	92.0	93.0					1																	75055645		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75055645T>A																												ENST00000326665.5:c.1846A>T	1.37:g.75055645T>A	ENSP00000322609:p.Arg616*					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.R410*	p.R616*	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2065	-			616			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.1846A>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	37	6.035929	0.97221	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.26	-2.81	0.05805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-6.1523	5.6125	0.17414	0.0:0.2242:0.4224:0.3533	.	.	.	.	X	616;419	.	ENSP00000322609:R616X	R	-	1	2	C1orf173	74828233	0.064000	0.20934	0.091000	0.20842	0.349000	0.29174	0.127000	0.15790	-0.269000	0.09298	0.519000	0.50382	AGA		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			102	29	0	0	0	0.00361	0	102	29				
AK5	26289	broad.mit.edu	37	1	77806104	77806104	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:77806104C>A	ENST00000354567.2	+	6	1005	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	AK5_ENST00000344720.5_Missense_Mutation_p.Q222K	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	248	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.Q248K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTGTGCTAATCAGAGACTCAA	0.453																																							uc001dhn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(742-744)CAG>AAG		adenylate kinase 5 isoform 1							155.0	147.0	150.0					1																	77806104		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77806104C>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.742C>A	1.37:g.77806104C>A	ENSP00000346577:p.Gln248Lys					AK5_uc001dho.2_Missense_Mutation_p.Q222K	p.Q248K	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			6	999	+			248					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.742C>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340848	0.81911	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.76186	-1.0;-1.0	5.1	5.1	0.69264	.	0.058253	0.64402	D	0.000001	T	0.57344	0.2047	N	0.25992	0.78	0.80722	D	1	P	0.35124	0.485	B	0.36922	0.236	T	0.64508	-0.6391	10	0.52906	T	0.07	-12.6811	18.8959	0.92423	0.0:1.0:0.0:0.0	.	248	Q9Y6K8	KAD5_HUMAN	K	248;222	ENSP00000346577:Q248K;ENSP00000341430:Q222K	ENSP00000341430:Q222K	Q	+	1	0	AK5	77578692	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.602000	0.67612	2.531000	0.85337	0.655000	0.94253	CAG		0.453	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		135	31	1	0	2.73285e-76	0.00361	5.28691e-76	135	31				
COL11A1	1301	broad.mit.edu	37	1	103440391	103440391	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103440391G>T	ENST00000370096.3	-	36	3115	c.2803C>A	c.(2803-2805)Cct>Act	p.P935T	COL11A1_ENST00000358392.2_Missense_Mutation_p.P947T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P819T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P896T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	935	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P935T(1)|p.P947T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTACAGGAGGGCCTTTTGGT	0.383																																							uc001dul.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2803-2805)CCT>ACT		alpha 1 type XI collagen isoform A							59.0	67.0	65.0					1																	103440391		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103440391G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2803C>A	1.37:g.103440391G>T	ENSP00000359114:p.Pro935Thr					COL11A1_uc001duk.2_Missense_Mutation_p.P131T|COL11A1_uc001dum.2_Missense_Mutation_p.P947T|COL11A1_uc001dun.2_Missense_Mutation_p.P896T|COL11A1_uc009weh.2_Missense_Mutation_p.P819T	p.P935T	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	36	3121	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	935			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2803C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505207	0.64410	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.35	5.35	0.76521	.	0.196102	0.44902	D	0.000411	T	0.55305	0.1912	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.981;0.991;0.994;0.981;0.991	T	0.58842	-0.7565	10	0.87932	D	0	.	17.6337	0.88116	0.0:0.0:1.0:0.0	.	819;896;947;935;155	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	935;947;896;155;819	ENSP00000359114:P935T;ENSP00000351163:P947T;ENSP00000302551:P896T;ENSP00000426533:P819T	ENSP00000302551:P896T	P	-	1	0	COL11A1	103212979	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.814000	0.91968	2.503000	0.84419	0.585000	0.79938	CCT		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	19	1	0	2.27111e-07	0.001368	2.78177e-07	11	19				
COL11A1	1301	broad.mit.edu	37	1	103491782	103491782	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103491782G>C	ENST00000370096.3	-	6	1199	c.887C>G	c.(886-888)gCa>gGa	p.A296G	COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.A296G|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	296	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A296G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCCGTCTGTGCTATTGTCTC	0.443																																							uc001dul.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(886-888)GCA>GGA		alpha 1 type XI collagen isoform A							273.0	227.0	242.0					1																	103491782		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491782G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.887C>G	1.37:g.103491782G>C	ENSP00000359114:p.Ala296Gly					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.A296G	p.A296G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	6	1205	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	296			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.887C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597055	0.46318	.	.	ENSG00000060718	ENST00000370096;ENST00000512756	D;D	0.88586	-2.36;-2.4	5.39	5.39	0.77823	.	.	.	.	.	T	0.76615	0.4012	L	0.31207	0.915	0.80722	D	1	B;B	0.26876	0.162;0.162	B;B	0.22601	0.04;0.04	T	0.73799	-0.3869	9	0.22109	T	0.4	.	19.1559	0.93510	0.0:0.0:1.0:0.0	.	296;296	E9PCU0;P12107	.;COBA1_HUMAN	G	296	ENSP00000359114:A296G;ENSP00000426533:A296G	ENSP00000359114:A296G	A	-	2	0	COL11A1	103264370	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.064000	0.76721	2.529000	0.85273	0.643000	0.83706	GCA		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	37	0	0	0	0.004007	0	16	37				
COL11A1	1301	broad.mit.edu	37	1	103548452	103548452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:103548452G>T	ENST00000370096.3	-	2	495	c.183C>A	c.(181-183)tgC>tgA	p.C61*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.C61*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.C61*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.C61*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	61					cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.C61*(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTGTTTGTGCAAAATCCCG	0.363																																							uc001dul.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(181-183)TGC>TGA		alpha 1 type XI collagen isoform A							128.0	130.0	129.0					1																	103548452		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548452G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.183C>A	1.37:g.103548452G>T	ENSP00000359114:p.Cys61*					COL11A1_uc001dum.2_Nonsense_Mutation_p.C61*|COL11A1_uc001dun.2_Nonsense_Mutation_p.C61*|COL11A1_uc009weh.2_Nonsense_Mutation_p.C61*	p.C61*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	501	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	61			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.183C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	41	8.779295	0.98950	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8365	0.96659	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000302551:C61X	C	-	3	2	COL11A1	103321040	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.383000	0.52471	2.694000	0.91930	0.467000	0.42956	TGC		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		27	51	1	0	1.50538e-07	0.00632	1.85853e-07	27	51				
PRMT6	55170	broad.mit.edu	37	1	107600389	107600389	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:107600389G>C	ENST00000370078.1	+	1	1089	c.1052G>C	c.(1051-1053)cGt>cCt	p.R351P	PRMT6_ENST00000361318.5_Missense_Mutation_p.R292P			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	351	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.R292P(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GACAACCCCCGTCGCCTGCGC	0.602																																							uc010ous.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)CGT>CCT		protein arginine methyltransferase 6							35.0	40.0	38.0					1																	107600389		2025	4181	6206	SO:0001583	missense	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107600389G>C	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.1052G>C	1.37:g.107600389G>C	ENSP00000359095:p.Arg351Pro						p.R351P	NM_018137	NP_060607	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	1123	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	351					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	c.1052G>C	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.690091	0.88735	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.26518	1.73;1.73	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.82823	2.61	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.55010	-0.8207	10	0.87932	D	0	-10.5907	16.7509	0.85485	0.0:0.0:1.0:0.0	.	351	Q96LA8	ANM6_HUMAN	P	292;351	ENSP00000355145:R292P;ENSP00000359095:R351P	ENSP00000355145:R292P	R	+	2	0	PRMT6	107401912	1.000000	0.71417	0.936000	0.37596	0.994000	0.84299	7.844000	0.86867	2.549000	0.85964	0.637000	0.83480	CGT		0.602	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		6	12	0	0	0	0.001984	0	6	12				
CELSR2	1952	broad.mit.edu	37	1	109813107	109813107	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:109813107G>T	ENST00000271332.3	+	24	7429	c.7368G>T	c.(7366-7368)tgG>tgT	p.W2456C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2456					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.W2456C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTTTTCCTGGGCTCTGCTGG	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(7366-7368)TGG>TGT		cadherin EGF LAG seven-pass G-type receptor 2							159.0	135.0	143.0					1																	109813107		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109813107G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7368G>T	1.37:g.109813107G>T	ENSP00000271332:p.Trp2456Cys						p.W2456C	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	24	7429	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2456			Helical; Name=3; (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.7368G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245780	0.80024	.	.	ENSG00000143126	ENST00000271332	D	0.83837	-1.77	4.22	4.22	0.49857	GPCR, family 2-like (1);	.	.	.	.	D	0.94417	0.8204	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96615	0.9455	9	0.87932	D	0	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2456	Q9HCU4	CELR2_HUMAN	C	2456	ENSP00000271332:W2456C	ENSP00000271332:W2456C	W	+	3	0	CELSR2	109614630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.539000	0.98076	2.350000	0.79820	0.555000	0.69702	TGG		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	39	1	0	8.00594e-06	0.007413	9.27554e-06	15	39				
SLC6A17	388662	broad.mit.edu	37	1	110717483	110717484	+	Nonsense_Mutation	DNP	GG	GG	CT	rs142547110		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:110717483_110717484GG>CT	ENST00000331565.4	+	5	1139_1140	c.654_655GG>CT	c.(652-657)tcGGag>tcCTag	p.E219*	RP5-1028L10.2_ENST00000440688.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	219					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.E219*(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTCCATCTCGGAGAGTGGGGG	0.574																																							uc009wfq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(652-657)TCGGAG>TCCTAG		solute carrier family 6, member 17																																				SO:0001587	stop_gained	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110717483_110717484GG>CT		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	Exception_encountered	1.37:g.110717483_110717484delinsCT	ENSP00000330199:p.Glu219*						p.E219*	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	5	1115_1116	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	219			Extracellular (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Nonsense_Mutation	DNP	ENST00000331565.4	37	c.654_655GG>CT	CCDS30799.1																																																																																				0.574	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		9	18	0	0	0	0.004672	0	9	18				
LRIF1	55791	broad.mit.edu	37	1	111495357	111495357	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:111495357T>A	ENST00000369763.4	-	2	539	c.149A>T	c.(148-150)aAg>aTg	p.K50M	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_De_novo_Start_OutOfFrame	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.K50M(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCAGAAGACTTAGGAATTGG	0.378																																							uc001eaa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)AAG>ATG		receptor-interacting factor 1 isoform 1							51.0	52.0	51.0					1																	111495357		2200	4295	6495	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495357T>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.149A>T	1.37:g.111495357T>A	ENSP00000358778:p.Lys50Met					C1orf103_uc001dzz.2_Translation_Start_Site|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.K50M	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	405	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	50					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.149A>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736604	0.30774	.	.	ENSG00000121931	ENST00000369763	T	0.32753	1.44	5.52	4.39	0.52855	.	0.288073	0.33075	N	0.005313	T	0.11067	0.0270	L	0.27053	0.805	0.80722	D	1	P	0.37276	0.589	B	0.37047	0.24	T	0.04635	-1.0937	10	0.72032	D	0.01	-2.3417	9.4732	0.38856	0.0:0.0841:0.0:0.9159	.	50	Q5T3J3	LRIF1_HUMAN	M	50	ENSP00000358778:K50M	ENSP00000358778:K50M	K	-	2	0	LRIF1	111296880	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.969000	0.49232	0.938000	0.37419	0.383000	0.25322	AAG		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		12	25	0	0	0	0.001368	0	12	25				
MAB21L3	126868	broad.mit.edu	37	1	116670876	116670876	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:116670876G>A	ENST00000369500.3	+	6	1036	c.771G>A	c.(769-771)agG>agA	p.R257R		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	257								p.R257R(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GCTGCCGTAGGAAGTGTTTTC	0.552																																							uc001egc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)AGG>AGA		hypothetical protein LOC126868							65.0	61.0	63.0					1																	116670876		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116670876G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.771G>A	1.37:g.116670876G>A							p.R257R	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1036	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	257					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.771G>A	CCDS886.1																																																																																				0.552	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367		7	18	0	0	0	0.00308	0	7	18				
WDR3	10885	broad.mit.edu	37	1	118477140	118477140	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:118477140C>T	ENST00000349139.5	+	3	263	c.216C>T	c.(214-216)tgC>tgT	p.C72C	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	72						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C72C(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTTGCTTATGCCCCTCCCCAG	0.428																																							uc010oxe.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(214-216)TGC>TGT		WD repeat-containing protein 3							120.0	116.0	117.0					1																	118477140		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118477140C>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.216C>T	1.37:g.118477140C>T						WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	p.C72C	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	3	282	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	72			WD 2.			Silent	SNP	ENST00000349139.5	37	c.216C>T	CCDS898.1																																																																																				0.428	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		4	70	0	0	0	0.009096	0	4	70				
HSD3B2	3284	broad.mit.edu	37	1	119962122	119962122	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:119962122T>A	ENST00000543831.1	+	3	473	c.224T>A	c.(223-225)gTc>gAc	p.V75D	HSD3B2_ENST00000369416.3_Missense_Mutation_p.V75D|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	75					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.V75D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TGCCAGGACGTCTCGGTCGTC	0.502																																							uc001ehs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(223-225)GTC>GAC		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						115.0	91.0	99.0					1																	119962122		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962122T>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.224T>A	1.37:g.119962122T>A	ENSP00000445122:p.Val75Asp					HSD3B2_uc001eht.2_Missense_Mutation_p.V75D|HSD3B2_uc001ehu.2_Missense_Mutation_p.V75D	p.V75D	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	997	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	75					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.224T>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.11	2.735764	0.49045	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.89939	-2.59;-2.59;-2.59	3.93	-0.182	0.13287	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.535957	0.20385	N	0.093377	D	0.88492	0.6451	M	0.93106	3.38	0.09310	N	1	P;P	0.49090	0.919;0.728	P;P	0.50049	0.605;0.629	D	0.84213	0.0457	9	.	.	.	-13.196	8.5177	0.33257	0.0:0.1494:0.0:0.8506	.	75;75	P26439-2;P26439	.;3BHS2_HUMAN	D	75	ENSP00000445122:V75D;ENSP00000388292:V75D;ENSP00000358424:V75D	.	V	+	2	0	HSD3B2	119763645	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.245000	0.18142	-0.224000	0.09928	0.248000	0.18094	GTC		0.502	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		10	16	0	0	0	0.006214	0	10	16				
PDE4DIP	9659	broad.mit.edu	37	1	145075801	145075801	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:145075801C>G	ENST00000530740.1	-	1	100	c.62G>C	c.(61-63)cGc>cCc	p.R21P	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21P|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R21P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R21P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCGGGACGCGCGACAGCAGCA	0.701			T	PDGFRB	MPD																																		uc001emh.2		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - Missense(1)		lung(1)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(61-63)CGC>CCC		phosphodiesterase 4D interacting protein isoform							43.0	54.0	50.0					1																	145075801		2201	4290	6491	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075801C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.62G>C	1.37:g.145075801C>G	ENSP00000435654:p.Arg21Pro					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R21P|PDE4DIP_uc001emk.2_Missense_Mutation_p.R21P	p.R21P	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	279	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.62G>C		.	.	.	.	.	.	.	.	.	.	C	13.80	2.345728	0.41498	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16743	3.65;3.62;2.32	2.3	2.3	0.28687	.	.	.	.	.	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	D;P	0.59357	0.985;0.804	B;B	0.41332	0.354;0.084	T	0.32719	-0.9896	9	0.31617	T	0.26	.	8.0712	0.30691	0.0:1.0:0.0:0.0	.	21;21	Q5TB27;E9PJ64	.;.	P	21	ENSP00000435654:R21P;ENSP00000358366:R21P;ENSP00000358354:R21P	ENSP00000358351:R21P	R	-	2	0	PDE4DIP	143787158	0.004000	0.15560	0.049000	0.19019	0.342000	0.28953	0.321000	0.19558	1.246000	0.43901	0.511000	0.50034	CGC		0.701	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		7	75	0	0	0	0.004482	0	7	75				
CELF3	11189	broad.mit.edu	37	1	151680397	151680397	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:151680397G>T	ENST00000290583.4	-	6	1294	c.501C>A	c.(499-501)agC>agA	p.S167R	RIIAD1_ENST00000326413.3_5'Flank|CELF3_ENST00000392706.3_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.S167R|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	167	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S167R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCACCACCAGGCTGGACGAGG	0.642																																							uc001eys.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(499-501)AGC>AGA		trinucleotide repeat containing 4							53.0	44.0	47.0					1																	151680397		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680397G>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.501C>A	1.37:g.151680397G>T	ENSP00000290583:p.Ser167Arg					CELF3_uc010pdh.1_5'UTR|CELF3_uc001eyr.2_Missense_Mutation_p.S166R|CELF3_uc009wmy.2_Missense_Mutation_p.S167R|CELF3_uc009wmx.1_Missense_Mutation_p.S167R|CELF3_uc001eyt.2_Missense_Mutation_p.S90R|C1orf230_uc001eyu.2_5'Flank	p.S167R	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			6	1295	-			167			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.501C>A	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.07|16.07	3.018981|3.018981	0.54576|0.54576	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.05258	.|3.47;3.47	3.75|3.75	2.83|2.83	0.33086|0.33086	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.04705|0.04705	-0.18|-0.18	0.80722|0.80722	D|D	1|1	.|B;P;D;B;B	.|0.67145	.|0.366;0.686;0.996;0.09;0.088	.|B;B;P;B;B	.|0.62885	.|0.098;0.317;0.908;0.021;0.047	T|T	0.50197|0.50197	-0.8856|-0.8856	5|10	.|0.87932	.|D	.|0	-11.9849|-11.9849	10.2754|10.2754	0.43507|0.43507	0.0997:0.0:0.9003:0.0|0.0997:0.0:0.9003:0.0	.|.	.|167;167;166;167;166	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	D|R	168|167;167;166	.|ENSP00000290585:S167R;ENSP00000290583:S167R	.|ENSP00000290583:S167R	A|S	-|-	2|3	0|2	CELF3|CELF3	149947021|149947021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.576000|2.576000	0.46033|0.46033	0.926000|0.926000	0.37118|0.37118	-0.140000|-0.140000	0.14226|0.14226	GCC|AGC		0.642	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		5	21	1	0	0.000602214	0.000602	0.000654948	5	21				
FLG	2312	broad.mit.edu	37	1	152279988	152279988	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:152279988A>T	ENST00000368799.1	-	3	7409	c.7374T>A	c.(7372-7374)ggT>ggA	p.G2458G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2458	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2458G(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGTCCTGACCCTCTTGGG	0.587									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7372-7374)GGT>GGA		filaggrin							354.0	326.0	335.0					1																	152279988		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279988A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7374T>A	1.37:g.152279988A>T							p.G2458G	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7410	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2458			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7374T>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		149	167	0	0	0	0.00361	0	149	167				
LELP1	149018	broad.mit.edu	37	1	153177371	153177371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:153177371C>A	ENST00000368747.1	+	2	298	c.188C>A	c.(187-189)tCg>tAg	p.S63*		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	63	Cys/Pro-rich.							p.S63*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGCCCCTCGCAGTCTCCT	0.597																																							uc001fbl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(187-189)TCG>TAG		late cornified envelope-like proline-rich 1							147.0	117.0	127.0					1																	153177371		2203	4300	6503	SO:0001587	stop_gained	149018							g.chr1:153177371C>A		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.188C>A	1.37:g.153177371C>A	ENSP00000357736:p.Ser63*						p.S63*	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	298	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63			Cys/Pro-rich.		A1L4E1	Nonsense_Mutation	SNP	ENST00000368747.1	37	c.188C>A	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952381	0.53293	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.15	3.15	0.36227	.	0.158082	0.29940	N	0.010806	.	.	.	.	.	.	0.35997	D	0.837114	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.0849	5.6336	0.17524	0.2067:0.6943:0.0:0.099	.	.	.	.	X	63	.	ENSP00000357736:S63X	S	+	2	0	LELP1	151443995	0.001000	0.12720	0.347000	0.25668	0.010000	0.07245	1.009000	0.29886	1.402000	0.46780	0.561000	0.74099	TCG		0.597	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		29	28	1	0	9.39395e-14	0.00632	1.35982e-13	29	28				
IQGAP3	128239	broad.mit.edu	37	1	156532439	156532439	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:156532439C>A	ENST00000361170.2	-	9	827	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	273					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.D273Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCATAGATGTCCTGGCTTTCT	0.488																																							uc001fpf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(817-819)GAC>TAC		IQ motif containing GTPase activating protein 3							243.0	212.0	223.0					1																	156532439		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532439C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.817G>T	1.37:g.156532439C>A	ENSP00000354451:p.Asp273Tyr					IQGAP3_uc009wsb.1_Missense_Mutation_p.D230Y	p.D273Y	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			9	892	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		273					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.817G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665299	0.88251	.	.	ENSG00000183856	ENST00000361170	T	0.51574	0.7	5.77	5.77	0.91146	.	0.054911	0.64402	D	0.000001	T	0.74207	0.3686	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79512	-0.1773	10	0.87932	D	0	-32.2138	18.9245	0.92538	0.0:1.0:0.0:0.0	.	273	Q86VI3	IQGA3_HUMAN	Y	273	ENSP00000354451:D273Y	ENSP00000354451:D273Y	D	-	1	0	IQGAP3	154799063	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.410000	0.80065	2.884000	0.98904	0.655000	0.94253	GAC		0.488	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		30	42	1	0	4.65686e-17	0.003755	7.28441e-17	30	42				
PEAR1	375033	broad.mit.edu	37	1	156883536	156883536	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:156883536C>A	ENST00000338302.3	+	22	2922	c.2697C>A	c.(2695-2697)ggC>ggA	p.G899G	PEAR1_ENST00000292357.7_Silent_p.G899G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	899	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.G899G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGCCCAGGCCCATTCTACA	0.597																																							uc001fqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2695-2697)GGC>GGA		platelet endothelial aggregation receptor 1							49.0	51.0	50.0					1																	156883536		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156883536C>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2697C>A	1.37:g.156883536C>A						PEAR1_uc001fqk.1_Silent_p.G524G	p.G899G	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			21	2813	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		899			Pro-rich.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.2697C>A	CCDS30892.1																																																																																				0.597	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		24	13	1	0	6.21321e-17	0.00278	9.69448e-17	24	13				
CD1D	912	broad.mit.edu	37	1	158152741	158152741	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158152741A>T	ENST00000368171.3	+	5	1180	c.681A>T	c.(679-681)tcA>tcT	p.S227S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	227	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.S227S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCATGTCTCAGGATTCTACC	0.617																																							uc001frr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(679-681)TCA>TCT		CD1D antigen precursor							101.0	98.0	99.0					1																	158152741		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152741A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.681A>T	1.37:g.158152741A>T						CD1D_uc009wss.2_Intron	p.S227S	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1180	+	all_hematologic(112;0.0378)		227			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.681A>T	CCDS1173.1																																																																																				0.617	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		43	52	0	0	0	0.007835	0	43	52				
CD1E	913	broad.mit.edu	37	1	158325743	158325743	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158325743A>T	ENST00000368167.3	+	4	991	c.752A>T	c.(751-753)cAg>cTg	p.Q251L	CD1E_ENST00000444681.2_Missense_Mutation_p.Q152L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.Q251L|CD1E_ENST00000368166.3_Missense_Mutation_p.Q62L|CD1E_ENST00000368165.3_Missense_Mutation_p.Q161L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q161L|CD1E_ENST00000434258.1_Missense_Mutation_p.Q249L|CD1E_ENST00000368164.3_Missense_Mutation_p.Q62L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q251L|CD1E_ENST00000452291.2_Missense_Mutation_p.Q62L|CD1E_ENST00000368163.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	251	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.Q251L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCAGGAGCAGCGGGGCACT	0.647																																							uc001fse.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(751-753)CAG>CTG		CD1E antigen isoform a precursor							102.0	99.0	100.0					1																	158325743		2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325743A>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.752A>T	1.37:g.158325743A>T	ENSP00000357149:p.Gln251Leu					CD1E_uc010pid.1_Missense_Mutation_p.Q249L|CD1E_uc010pie.1_Missense_Mutation_p.Q152L|CD1E_uc010pif.1_Missense_Mutation_p.Q62L|CD1E_uc001fsd.2_Missense_Mutation_p.Q251L|CD1E_uc001fsk.2_Missense_Mutation_p.Q161L|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.Q62L|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.Q251L|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Missense_Mutation_p.Q62L|CD1E_uc001fsh.2_Missense_Mutation_p.Q62L|CD1E_uc001fsi.2_Missense_Mutation_p.Q251L|CD1E_uc009wsv.2_Missense_Mutation_p.Q152L|CD1E_uc001frz.2_Missense_Mutation_p.Q161L|CD1E_uc009wsw.2_Missense_Mutation_p.Q9L	p.Q251L	NM_030893	NP_112155	P15812	CD1E_HUMAN			4	991	+	all_hematologic(112;0.0378)		251			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.752A>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546849	0.45383	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368164;ENST00000368160;ENST00000368161;ENST00000368156	T;T;T;T;T;T;T;T;T;T	0.10668	4.12;4.12;4.12;4.12;2.85;4.12;4.12;4.12;4.12;2.85	4.83	4.83	0.62350	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.154508	0.30752	N	0.008953	T	0.06462	0.0166	L	0.42008	1.315	0.27698	N	0.945882	B;P;P;B;P;B;B;B;P;B;D;P;B	0.58970	0.109;0.862;0.571;0.317;0.755;0.033;0.142;0.16;0.473;0.317;0.984;0.463;0.152	B;B;B;B;B;B;B;B;B;B;P;B;B	0.49665	0.432;0.333;0.14;0.057;0.135;0.042;0.023;0.091;0.19;0.057;0.618;0.098;0.017	T	0.21211	-1.0252	10	0.30078	T	0.28	-10.9146	10.7116	0.45986	1.0:0.0:0.0:0.0	.	62;152;249;251;152;161;62;62;251;251;251;62;161	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-6	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.	L	249;152;251;62;161;62;62;251;251;161	ENSP00000401957:Q249L;ENSP00000402906:Q152L;ENSP00000357149:Q251L;ENSP00000416228:Q62L;ENSP00000357147:Q161L;ENSP00000357148:Q62L;ENSP00000357146:Q62L;ENSP00000357142:Q251L;ENSP00000357143:Q251L;ENSP00000357138:Q161L	ENSP00000357138:Q161L	Q	+	2	0	CD1E	156592367	0.345000	0.24835	0.742000	0.31022	0.747000	0.42532	0.295000	0.19065	2.036000	0.60181	0.460000	0.39030	CAG		0.647	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		24	40	0	0	0	0.005443	0	24	40				
SPTA1	6708	broad.mit.edu	37	1	158615096	158615096	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:158615096C>A	ENST00000368147.4	-	29	4256	c.4076G>T	c.(4075-4077)gGg>gTg	p.G1359V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1359					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)	p.G1359V(1)		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)					AGCATGGTGCCCACTGTCGAT	0.502																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4075-4077)GGG>GTG		spectrin, alpha, erythrocytic 1							101.0	95.0	97.0					1																	158615096		1932	4141	6073	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.chr1:158615096C>A	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.4076G>T	1.37:g.158615096C>A	ENSP00000357129:p.Gly1359Val						p.G1359V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4275	-	all_hematologic(112;0.0378)		1359			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4076G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632647	0.14322	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55052	0.54;0.54	4.81	2.89	0.33648	.	.	.	.	.	T	0.46190	0.1380	M	0.81112	2.525	0.51233	D	0.999919	P	0.43314	0.803	P	0.45071	0.468	T	0.51108	-0.8747	9	0.59425	D	0.04	.	11.4173	0.49960	0.1271:0.7989:0.0:0.074	.	1359	P02549	SPTA1_HUMAN	V	1359	ENSP00000357130:G1359V;ENSP00000357129:G1359V	ENSP00000357129:G1359V	G	-	2	0	SPTA1	156881720	0.988000	0.35896	0.014000	0.15608	0.072000	0.16883	2.776000	0.47709	0.321000	0.23259	-0.813000	0.03139	GGG		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		25	50	1	0	1.64293e-13	0.00333	2.35083e-13	25	50				
GORAB	92344	broad.mit.edu	37	1	170521423	170521423	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:170521423A>G	ENST00000367763.3	+	5	1025	c.1005A>G	c.(1003-1005)ccA>ccG	p.P335P		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	335	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P335P(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TAGAGAGGCCATTTCAGCCTG	0.463																																							uc001gha.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1003-1005)CCA>CCG		golgin, RAB6-interacting isoform a							115.0	107.0	110.0					1																	170521423		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170521423A>G	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.1005A>G	1.37:g.170521423A>G						GORAB_uc009wvx.2_Silent_p.P155P|GORAB_uc001ghb.2_Silent_p.P155P|GORAB_uc001ghc.2_Silent_p.P155P|GORAB_uc001ghd.2_Silent_p.P128P	p.P335P	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			5	1032	+			335			Necessary for interaction with RCHY1.		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.1005A>G	CCDS1289.1																																																																																				0.463	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		17	26	0	0	0	0.00499	0	17	26				
C1orf105	92346	broad.mit.edu	37	1	172425554	172425555	+	Splice_Site	DNP	GG	GG	TT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:172425554_172425555GG>TT	ENST00000367727.4	+	4	396_397	c.198_199GG>TT	c.(196-201)aaGGcc>aaTTcc	p.66_67KA>NS	C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Splice_Site_p.56_57EA>DS	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	66								p.?(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTTCCCCTCAGGCCAGGAGGAA	0.51																																							uc001gik.2		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e4-1		hypothetical protein LOC92346																																				SO:0001630	splice_region_variant	92346							g.chr1:172425554_172425555GG>TT	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	Exception_encountered	1.37:g.172425554_172425555delinsTT							p.A67_splice	NM_139240	NP_640333	O95561	CA105_HUMAN			4	395	+								Q8IY02	Splice_Site	DNP	ENST00000367727.4	37	c.199_splice	CCDS1301.1																																																																																				0.510	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240	Missense_Mutation	18	73	0	0	0	0.004672	0	18	73				
SLC9C2	284525	broad.mit.edu	37	1	173476059	173476059	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:173476059A>C	ENST00000367714.3	-	25	3583	c.3161T>G	c.(3160-3162)gTa>gGa	p.V1054G	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1054					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.V1054G(1)									AGTATCAATTACACTGCCATA	0.338																																							uc001giz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3160-3162)GTA>GGA		solute carrier family 9, member 11							139.0	125.0	130.0					1																	173476059		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173476059A>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.3161T>G	1.37:g.173476059A>C	ENSP00000356687:p.Val1054Gly					SLC9A11_uc009wwe.2_Missense_Mutation_p.V612G	p.V1054G	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			25	3584	-			1054					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.3161T>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229211	0.58777	.	.	ENSG00000162753	ENST00000367714	T	0.07216	3.21	5.64	4.52	0.55395	.	0.120219	0.37178	N	0.002206	T	0.14917	0.0360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00931	-1.1510	10	0.87932	D	0	-28.2721	8.1537	0.31156	0.9092:0.0:0.0908:0.0	.	1054	Q5TAH2	S9A11_HUMAN	G	1054	ENSP00000356687:V1054G	ENSP00000356687:V1054G	V	-	2	0	SLC9A11	171742682	0.994000	0.37717	0.705000	0.30386	0.812000	0.45895	4.816000	0.62642	0.978000	0.38470	0.460000	0.39030	GTA		0.338	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		24	55	0	0	0	0.003954	0	24	55				
TDRD5	163589	broad.mit.edu	37	1	179561783	179561783	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:179561783G>T	ENST00000367614.1	+	2	392	c.33G>T	c.(31-33)ctG>ctT	p.L11L	TDRD5_ENST00000444136.1_Silent_p.L11L|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.L11L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	11	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.L11L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGAATGTCTGCGGAAGGAAA	0.468																																							uc001gnf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(31-33)CTG>CTT		tudor domain containing 5							166.0	157.0	160.0					1																	179561783		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179561783G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.33G>T	1.37:g.179561783G>T						TDRD5_uc010pnp.1_Silent_p.L11L|uc010pno.1_5'Flank	p.L11L	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			2	283	+			11			Lotus/OST-HTH 1.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.33G>T	CCDS1332.1																																																																																				0.468	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		32	50	1	0	7.16026e-08	0.012213	9.03765e-08	32	50				
CACNA1E	777	broad.mit.edu	37	1	181765960	181765960	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:181765960C>A	ENST00000367573.2	+	47	6365	c.6365C>A	c.(6364-6366)cCc>cAc	p.P2122H	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P2011H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1686H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P2073H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P2079H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P2103H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P2060H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2122					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P2079H(1)|p.P2122H(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCAGGTCACCCAGTGAGGGC	0.587																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6235-6237)CCC>CAC		calcium channel, voltage-dependent, R type,							22.0	24.0	23.0					1																	181765960		2034	4188	6222	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765960C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6365C>A	1.37:g.181765960C>A	ENSP00000356545:p.Pro2122His					CACNA1E_uc009wxs.2_Missense_Mutation_p.P1967H|CACNA1E_uc009wxt.2_Missense_Mutation_p.P1348H	p.P2079H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			46	6401	+			2122			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6236C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959683	0.92791	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99158	-5.33;-5.31;-4.7;-5.3;-5.5;-4.7;-4.7	5.91	5.91	0.95273	.	0.354092	0.33144	N	0.005225	D	0.99064	0.9679	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	D	0.99880	1.1112	10	0.87932	D	0	.	18.0716	0.89408	0.0:1.0:0.0:0.0	.	2060;2079	Q15878-2;Q15878-3	.;.	H	2079;2060;2073;2011;1686;2103;2122	ENSP00000356542:P2079H;ENSP00000434814:P2060H;ENSP00000350183:P2073H;ENSP00000351101:P2011H;ENSP00000356539:P1686H;ENSP00000353222:P2103H;ENSP00000356545:P2122H	ENSP00000350183:P2073H	P	+	2	0	CACNA1E	180032583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.690000	0.74567	2.793000	0.96121	0.655000	0.94253	CCC		0.587	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	4	1	0	0.00116845	0.001168	0.00125755	6	4				
ZNF648	127665	broad.mit.edu	37	1	182027050	182027050	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:182027050G>T	ENST00000339948.3	-	2	303	c.96C>A	c.(94-96)aaC>aaA	p.N32K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N32K(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTCTCTAAGTTCATGCTCA	0.572																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - Missense(1)	p.N32S(1)	lung(1)	ovary(1)	1						c.(94-96)AAC>AAA		zinc finger protein 648							95.0	88.0	90.0					1																	182027050		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182027050G>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.96C>A	1.37:g.182027050G>T	ENSP00000344129:p.Asn32Lys						p.N32K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	304	-			32					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.96C>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579632	0.28180	.	.	ENSG00000179930	ENST00000339948	T	0.09445	2.98	2.76	1.84	0.25277	.	.	.	.	.	T	0.06371	0.0164	N	0.24115	0.695	0.09310	N	1	B	0.33694	0.421	B	0.19946	0.027	T	0.30909	-0.9962	9	0.59425	D	0.04	.	7.8872	0.29656	0.1311:0.0:0.8689:0.0	.	32	Q5T619	ZN648_HUMAN	K	32	ENSP00000344129:N32K	ENSP00000344129:N32K	N	-	3	2	ZNF648	180293673	0.000000	0.05858	0.024000	0.17045	0.016000	0.09150	0.247000	0.18179	0.738000	0.32606	-0.140000	0.14226	AAC		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		46	51	1	0	1.03325e-14	0.011902	1.54242e-14	46	51				
CDC73	79577	broad.mit.edu	37	1	193218922	193218922	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:193218922G>T	ENST00000367435.3	+	16	1664	c.1480G>T	c.(1480-1482)Gta>Tta	p.V494L	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	494	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.V494L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GAAATGGGATGTAACAGTATT	0.373																																							uc001gtb.2		NA																	1	Substitution - Missense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(1480-1482)GTA>TTA		parafibromin							112.0	111.0	111.0					1																	193218922		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193218922G>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1480G>T	1.37:g.193218922G>T	ENSP00000356405:p.Val494Leu						p.V494L	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			16	1723	+			494					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.1480G>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421697	0.96111	.	.	ENSG00000134371	ENST00000367435	T	0.76578	-1.03	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.90121	0.4199	10	0.66056	D	0.02	-16.6731	19.4694	0.94956	0.0:0.0:1.0:0.0	.	494	Q6P1J9	CDC73_HUMAN	L	494	ENSP00000356405:V494L	ENSP00000356405:V494L	V	+	1	0	CDC73	191485545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.596000	0.98267	2.587000	0.87381	0.591000	0.81541	GTA		0.373	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		19	44	1	0	1.96292e-10	0.010504	2.63847e-10	19	44				
CFHR2	3080	broad.mit.edu	37	1	196887425	196887425	+	Intron	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:196887425A>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Silent_p.T295T|CFHR4_ENST00000367416.2_Silent_p.T541T|CFHR4_ENST00000251424.4_Silent_p.T295T|CFHR4_ENST00000608469.1_Silent_p.T165T			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.T295T(1)|p.T541T(1)		large_intestine(2)|ovary(1)|skin(3)	6						ATGCAAAAACAGGGGATACCA	0.313																																							uc001gto.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(883-885)ACA>ACT		complement factor H-related 4 precursor							138.0	147.0	144.0					1																	196887425		2201	4300	6501	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196887425A>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31160A>T	1.37:g.196887425A>T						CFHR4_uc009wyy.2_Silent_p.T541T|CFHR4_uc001gtp.2_Silent_p.T542T	p.T295T	NM_006684	NP_006675	Q92496	FHR4_HUMAN			6	954	+			295			Sushi 5.		Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.885A>T																																																																																					0.313	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		29	38	0	0	0	0.00632	0	29	38				
ASPM	259266	broad.mit.edu	37	1	197065223	197065223	+	Missense_Mutation	SNP	C	C	A	rs201285805		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197065223C>A	ENST00000367409.4	-	19	9148	c.8892G>T	c.(8890-8892)tgG>tgT	p.W2964C	ASPM_ENST00000294732.7_Missense_Mutation_p.W1379C|ASPM_ENST00000367408.1_Missense_Mutation_p.W629C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2964	IQ 35. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.W2964C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACATCTATACCAGGCTTGAA	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		16349	0.0		0.001	False		,,,				2504	0.0						uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(8890-8892)TGG>TGT		asp (abnormal spindle)-like, microcephaly							172.0	193.0	186.0					1																	197065223		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197065223C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8892G>T	1.37:g.197065223C>A	ENSP00000356379:p.Trp2964Cys					ASPM_uc001gtv.2_Missense_Mutation_p.W1379C|ASPM_uc001gtw.3_Missense_Mutation_p.W812C	p.W2964C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			19	9149	-			2964			IQ 35.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8892G>T	CCDS1389.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.44	2.833211	0.50951	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.25912	1.77;1.77;1.77	5.15	4.14	0.48551	.	0.092366	0.49305	D	0.000144	T	0.40932	0.1137	M	0.62209	1.925	0.37678	D	0.923388	P;B;P	0.45672	0.613;0.221;0.864	P;B;P	0.55345	0.518;0.171;0.774	T	0.38265	-0.9669	10	0.38643	T	0.18	.	14.0633	0.64812	0.2194:0.7806:0.0:0.0	.	950;1379;2964	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	C	2964;1379;629;950	ENSP00000356379:W2964C;ENSP00000294732:W1379C;ENSP00000356378:W629C	ENSP00000294732:W1379C	W	-	3	0	ASPM	195331846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.386000	0.34419	2.382000	0.81193	0.563000	0.77884	TGG		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		94	84	1	0	1.61169e-53	0.00361	3.08906e-53	94	84				
ZBTB41	360023	broad.mit.edu	37	1	197128743	197128743	+	Missense_Mutation	SNP	G	G	A	rs373986585		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197128743G>A	ENST00000367405.4	-	10	2544	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	826					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R826C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTAGTATGACGCACTAGGTCA	0.473																																							uc001gtx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2476-2478)CGT>TGT		zinc finger and BTB domain containing 41		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	201.0	189.0	193.0		2476	4.9	0.6	1		193	0,8600		0,0,4300	no	missense	ZBTB41	NM_194314.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	826/910	197128743	1,13005	2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128743G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2476C>T	1.37:g.197128743G>A	ENSP00000356375:p.Arg826Cys					ZBTB41_uc009wyz.1_RNA	p.R826C	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2545	-			826					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2476C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186708	0.21870	2.27E-4	0.0	ENSG00000177888	ENST00000367405	T	0.05996	3.36	5.87	4.95	0.65309	.	0.400832	0.18681	N	0.134177	T	0.06188	0.0160	L	0.29908	0.895	0.31712	N	0.639365	P	0.36660	0.564	B	0.29942	0.109	T	0.03739	-1.1008	10	0.72032	D	0.01	.	15.3902	0.74739	0.0674:0.0:0.9326:0.0	.	826	Q5SVQ8	ZBT41_HUMAN	C	826	ENSP00000356375:R826C	ENSP00000356375:R826C	R	-	1	0	ZBTB41	195395366	0.469000	0.25846	0.571000	0.28486	0.053000	0.15095	2.833000	0.48159	1.461000	0.47929	0.655000	0.94253	CGT		0.473	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		4	63	0	0	0	0.009096	0	4	63				
CRB1	23418	broad.mit.edu	37	1	197390204	197390204	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:197390204C>A	ENST00000367400.3	+	6	1381	c.1246C>A	c.(1246-1248)Cct>Act	p.P416T	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.P416T|CRB1_ENST00000543483.1_Missense_Mutation_p.P115T|CRB1_ENST00000367397.1_De_novo_Start_OutOfFrame|CRB1_ENST00000367399.2_Missense_Mutation_p.P304T|CRB1_ENST00000535699.1_Missense_Mutation_p.P347T|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	416	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P416T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGAACTTGCCTGGGAATTA	0.408																																							uc001gtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1246-1248)CCT>ACT		crumbs homolog 1 precursor							153.0	139.0	144.0					1																	197390204		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390204C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1246C>A	1.37:g.197390204C>A	ENSP00000356370:p.Pro416Thr					CRB1_uc010poz.1_Missense_Mutation_p.P347T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P304T|CRB1_uc010ppb.1_Missense_Mutation_p.P416T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.P65T	p.P416T	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1381	+			416			Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1246C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891898	0.33442	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.21	5.57	4.66	0.58398	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90259	0.6954	L	0.45581	1.43	0.80722	D	1	B;B;P;P;B	0.48162	0.117;0.036;0.906;0.465;0.088	B;B;P;B;B	0.52909	0.114;0.089;0.713;0.232;0.15	D	0.87194	0.2236	9	0.14252	T	0.57	.	14.5685	0.68197	0.0:0.9295:0.0:0.0705	.	416;347;304;65;416	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	347;416;416;304;115;65	ENSP00000438786:P347T;ENSP00000438091:P416T;ENSP00000356370:P416T;ENSP00000356369:P304T;ENSP00000439579:P115T	ENSP00000356369:P304T	P	+	1	0	CRB1	195656827	0.057000	0.20700	0.327000	0.25402	0.981000	0.71138	1.766000	0.38491	1.341000	0.45600	0.585000	0.79938	CCT		0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		28	73	1	0	9.80776e-20	0.00632	1.64168e-19	28	73				
FAM58BP	339521	broad.mit.edu	37	1	200183036	200183036	+	IGR	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:200183036C>T								NR5A2 (36484 upstream) : RP11-532L16.3 (101526 downstream)																							TGGGATTGGACTCCCGCCTCT	0.577																																							uc009wzi.1		NA																	0					0						c.(343-345)GAC>GAT		family with sequence similarity 58 member B							71.0	77.0	75.0					1																	200183036		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183036C>T																													1.37:g.200183036C>T							p.D115D	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	381	+	Prostate(682;0.19)		115						Silent	SNP		37	c.345C>T																																																																																				0	0.577									16	48	0	0	0	0.007413	0	16	48				
RNPEP	6051	broad.mit.edu	37	1	201973564	201973564	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:201973564C>G	ENST00000295640.4	+	10	1777	c.1734C>G	c.(1732-1734)atC>atG	p.I578M	RNPEP_ENST00000367286.3_Missense_Mutation_p.I539M|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	578					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.I578M(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGGGCCAAATCGTCCTTAAGA	0.512																																					GBM(19;39 479 7473 13131 19462)	GBM(19;39 479 7473 13131 19462)	uc001gxd.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1732-1734)ATC>ATG		arginyl aminopeptidase							111.0	119.0	116.0					1																	201973564		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201973564C>G	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1734C>G	1.37:g.201973564C>G	ENSP00000295640:p.Ile578Met					RNPEP_uc001gxe.2_Missense_Mutation_p.I279M|RNPEP_uc001gxf.2_Missense_Mutation_p.I447M	p.I578M	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	10	1763	+			578					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1734C>G	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249811	0.39797	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.46819	0.86;0.86	5.58	-7.53	0.01336	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.056675	0.64402	D	0.000002	T	0.44286	0.1286	L	0.54323	1.7	0.31258	N	0.693242	P;P	0.42941	0.794;0.644	P;P	0.53450	0.726;0.657	T	0.51624	-0.8682	10	0.54805	T	0.06	-19.5891	5.8097	0.18460	0.0943:0.224:0.0932:0.5886	.	586;578	Q7RU04;Q9H4A4	.;AMPB_HUMAN	M	578;539	ENSP00000295640:I578M;ENSP00000356255:I539M	ENSP00000295640:I578M	I	+	3	3	RNPEP	200240187	0.000000	0.05858	0.163000	0.22734	0.499000	0.33736	-3.344000	0.00504	-1.167000	0.02779	-0.136000	0.14681	ATC		0.512	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		33	85	0	0	0	0.002836	0	33	85				
CTSE	1510	broad.mit.edu	37	1	206331183	206331183	+	Nonstop_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:206331183T>G	ENST00000358184.2	+	9	1307	c.1189T>G	c.(1189-1191)Taa>Gaa	p.*397E	CTSE_ENST00000360218.2_Silent_p.P349P|CTSE_ENST00000432969.2_Silent_p.P274P|CTSE_ENST00000361052.3_Nonstop_Mutation_p.*402E	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.P349P(1)|p.*397E(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGCAGTCCCCTAAGGAGGGGC	0.517																																							uc001hdu.2		NA																	2	Nonstop extension(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(1189-1191)TAA>GAA		cathepsin E isoform a preproprotein							109.0	117.0	114.0					1																	206331183		2203	4300	6503	SO:0001578	stop_lost	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331183T>G	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.1189T>G	1.37:g.206331183T>G	ENSP00000350911:p.*397Gluext*11					CTSE_uc001hdv.2_Silent_p.P349P|CTSE_uc010prs.1_Silent_p.P274P	p.*397E	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		9	1307	+			397					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Nonstop_Mutation	SNP	ENST00000358184.2	37	c.1189T>G	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	t	5.764	0.325408	0.10900	.	.	ENSG00000196188	ENST00000358184;ENST00000361052	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0603	0.42270	0.0:0.0801:0.0:0.9199	.	.	.	.	E	397;402	.	.	X	+	1	0	CTSE	204497806	0.606000	0.26949	0.965000	0.40720	0.052000	0.14988	1.662000	0.37418	2.217000	0.71921	0.448000	0.29417	TAA		0.517	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		17	52	0	0	0	0.004007	0	17	52				
C1orf116	79098	broad.mit.edu	37	1	207195647	207195647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:207195647C>A	ENST00000359470.5	-	4	1711	c.1462G>T	c.(1462-1464)Ggc>Tgc	p.G488C	C1orf116_ENST00000461135.2_Missense_Mutation_p.G242C	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	488						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G488C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTCCCACGCCTGAGCGCTCC	0.567																																							uc001hfd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1462-1464)GGC>TGC		specifically androgen-regulated protein isoform							41.0	42.0	42.0					1																	207195647		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195647C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1462G>T	1.37:g.207195647C>A	ENSP00000352447:p.Gly488Cys					C1orf116_uc009xcb.1_Missense_Mutation_p.G242C	p.G488C	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	1721	-	Prostate(682;0.19)		488					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1462G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091688	0.76756	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.14766	2.48;2.48	5.7	4.79	0.61399	.	0.050697	0.85682	D	0.000000	T	0.36496	0.0969	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.18366	-1.0339	10	0.87932	D	0	-19.8913	15.3806	0.74651	0.14:0.86:0.0:0.0	.	488	Q9BW04	SARG_HUMAN	C	488;242	ENSP00000352447:G488C;ENSP00000436862:G242C	ENSP00000352447:G488C	G	-	1	0	C1orf116	205262270	1.000000	0.71417	0.131000	0.22000	0.899000	0.52679	6.576000	0.74023	1.401000	0.46761	0.655000	0.94253	GGC		0.567	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		3	10	1	0	0.00909568	0.009096	0.00941403	3	10				
CR1	1378	broad.mit.edu	37	1	207741314	207741314	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:207741314C>A	ENST00000367049.4	+	25	4098	c.4098C>A	c.(4096-4098)agC>agA	p.S1366R	CR1_ENST00000367053.1_Missense_Mutation_p.S916R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.S916R|CR1_ENST00000400960.2_Missense_Mutation_p.S916R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	916	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.S921R(1)|p.S1366R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGAGAGAGCACCATCCGCT	0.542																																							uc001hfy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2746-2748)AGC>AGA		complement receptor 1 isoform F precursor							86.0	105.0	99.0					1																	207741314		1817	4086	5903	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741314C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4098C>A	1.37:g.207741314C>A	ENSP00000356016:p.Ser1366Arg					CR1_uc009xcl.1_Missense_Mutation_p.S466R|CR1_uc001hfx.2_Missense_Mutation_p.S1366R|CR1_uc009xck.1_Missense_Mutation_p.S466R	p.S916R	NM_000573	NP_000564	P17927	CR1_HUMAN			17	2888	+			916			Extracellular (Potential).|Sushi 14.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.2748C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.778847	0.31502	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	2.73	-0.355	0.12587	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.59101	0.2169	L	0.28608	0.87	0.25057	N	0.991098	P;D;P;D	0.76494	0.511;0.999;0.686;0.999	P;D;B;D	0.87578	0.612;0.995;0.411;0.998	T	0.48479	-0.9032	9	0.25751	T	0.34	.	1.4147	0.02299	0.2185:0.4329:0.2135:0.135	.	916;466;916;1366	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	R	916;916;916;1366	ENSP00000356018:S916R;ENSP00000356020:S916R;ENSP00000383744:S916R;ENSP00000356016:S1366R	ENSP00000356016:S1366R	S	+	3	2	CR1	205807937	0.996000	0.38824	0.981000	0.43875	0.787000	0.44495	0.907000	0.28531	-0.053000	0.13289	-0.333000	0.08304	AGC		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		24	46	1	0	1.64293e-13	0.00333	2.35083e-13	24	46				
PLXNA2	5362	broad.mit.edu	37	1	208206713	208206713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:208206713C>A	ENST00000367033.3	-	28	5763	c.5006G>T	c.(5005-5007)gGc>gTc	p.G1669V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1669					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G1669V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATCTTGCTGCCCCGGTCACC	0.602																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5005-5007)GGC>GTC		plexin A2 precursor							118.0	101.0	107.0					1																	208206713		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208206713C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5006G>T	1.37:g.208206713C>A	ENSP00000356000:p.Gly1669Val						p.G1669V	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	28	5764	-			1669			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5006G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386044	0.82902	.	.	ENSG00000076356	ENST00000367033	T	0.10960	2.82	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00928	-1.1511	10	0.31617	T	0.26	.	19.2425	0.93889	0.0:1.0:0.0:0.0	.	1669	O75051	PLXA2_HUMAN	V	1669	ENSP00000356000:G1669V	ENSP00000356000:G1669V	G	-	2	0	PLXNA2	206273336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.534000	0.82004	2.534000	0.85438	0.655000	0.94253	GGC		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		27	29	1	0	8.58068e-18	0.007291	1.36631e-17	27	29				
PLXNA2	5362	broad.mit.edu	37	1	208390847	208390847	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:208390847G>A	ENST00000367033.3	-	2	1178	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	141	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R141W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCATCCAGCCGCAGCAGCTTG	0.572																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(421-423)CGG>TGG		plexin A2 precursor							118.0	122.0	121.0					1																	208390847		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390847G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.421C>T	1.37:g.208390847G>A	ENSP00000356000:p.Arg141Trp					PLXNA2_uc001hha.3_Missense_Mutation_p.R195W	p.R141W	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1179	-			141			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.421C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365250	0.61513	.	.	ENSG00000076356	ENST00000367033	T	0.11930	2.73	5.64	2.68	0.31781	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000001	T	0.41190	0.1148	M	0.85542	2.76	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.47156	-0.9139	10	0.87932	D	0	.	14.8772	0.70504	0.0:0.0:0.6242:0.3758	.	195;141	O75051-2;O75051	.;PLXA2_HUMAN	W	141	ENSP00000356000:R141W	ENSP00000356000:R141W	R	-	1	2	PLXNA2	206457470	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.316000	0.33620	0.298000	0.22638	0.514000	0.50259	CGG		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		36	87	0	0	0	0.006999	0	36	87				
SIPA1L2	57568	broad.mit.edu	37	1	232579372	232579372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:232579372C>T	ENST00000366630.1	-	11	3771	c.3413G>A	c.(3412-3414)tGg>tAg	p.W1138*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.W1138*|SIPA1L2_ENST00000308942.4_Nonsense_Mutation_p.W212*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1138					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.W1138*(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)				TTGTGGTCTCCAGGGTCCGCT	0.498																																							uc001hvg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3412-3414)TGG>TAG		signal-induced proliferation-associated 1 like							81.0	91.0	88.0					1																	232579372		1913	4131	6044	SO:0001587	stop_gained	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232579372C>T	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.3413G>A	1.37:g.232579372C>T	ENSP00000355589:p.Trp1138*					SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.W212*	p.W1138*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			10	3571	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1138					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	c.3413G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	46	12.826744	0.99699	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.6341	18.1467	0.89659	0.0:1.0:0.0:0.0	.	.	.	.	X	1138;1138;212	.	ENSP00000262861:W1138X	W	-	2	0	SIPA1L2	230645995	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.648000	0.74359	2.701000	0.92244	0.650000	0.86243	TGG		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		16	24	0	0	0	0.00499	0	16	24				
RYR2	6262	broad.mit.edu	37	1	237670064	237670064	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237670064C>A	ENST00000366574.2	+	23	2985	c.2668C>A	c.(2668-2670)Cat>Aat	p.H890N	RYR2_ENST00000542537.1_Missense_Mutation_p.H874N|RYR2_ENST00000360064.6_Missense_Mutation_p.H888N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	890	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.H888N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGAATATCCATGAACTCTG	0.333																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2668-2670)CAT>AAT		cardiac muscle ryanodine receptor							111.0	112.0	112.0					1																	237670064		1822	4078	5900	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237670064C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2668C>A	1.37:g.237670064C>A	ENSP00000355533:p.His890Asn						p.H890N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2788	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	890			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2668C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812873	0.90707	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97665	-4.48;-4.48;-4.48	5.49	5.49	0.81192	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000003	D	0.98912	0.9631	M	0.93462	3.42	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99556	1.0967	10	0.87932	D	0	.	19.3546	0.94407	0.0:1.0:0.0:0.0	.	890	Q92736	RYR2_HUMAN	N	890;888;874	ENSP00000355533:H890N;ENSP00000353174:H888N;ENSP00000443798:H874N	ENSP00000353174:H888N	H	+	1	0	RYR2	235736687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.568000	0.86640	0.585000	0.79938	CAT		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	10	1	0	3.45872e-05	0.004007	3.91232e-05	13	10				
RYR2	6262	broad.mit.edu	37	1	237789102	237789102	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237789102C>A	ENST00000366574.2	+	40	6481	c.6164C>A	c.(6163-6165)tCc>tAc	p.S2055Y	RYR2_ENST00000542537.1_Missense_Mutation_p.S2039Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S2053Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2055	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S2053Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCAAAAAGTCCTGTAAGCAG	0.423																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6163-6165)TCC>TAC		cardiac muscle ryanodine receptor							72.0	70.0	70.0					1																	237789102		1939	4142	6081	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237789102C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6164C>A	1.37:g.237789102C>A	ENSP00000355533:p.Ser2055Tyr						p.S2055Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6284	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2055			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6164C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706133	0.48412	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73258	-0.73;-0.73;-0.73	5.47	4.55	0.56014	.	0.361157	0.22380	U	0.060840	T	0.57519	0.2059	N	0.14661	0.345	0.80722	D	1	D	0.54601	0.967	B	0.43536	0.423	T	0.64322	-0.6435	10	0.62326	D	0.03	.	14.858	0.70355	0.0:0.8572:0.1428:0.0	.	2055	Q92736	RYR2_HUMAN	Y	2055;2053;2039	ENSP00000355533:S2055Y;ENSP00000353174:S2053Y;ENSP00000443798:S2039Y	ENSP00000353174:S2053Y	S	+	2	0	RYR2	235855725	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.983000	0.63832	1.288000	0.44600	0.561000	0.74099	TCC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	16	1	0	3.59834e-05	0.001168	4.05547e-05	6	16				
RYR2	6262	broad.mit.edu	37	1	237870278	237870278	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237870278G>A	ENST00000366574.2	+	68	9927	c.9610G>A	c.(9610-9612)Gtt>Att	p.V3204I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V3188I|RYR2_ENST00000360064.6_Missense_Mutation_p.V3202I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3204					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V3202I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGGAAGATGTTTGTCCAAA	0.418																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9610-9612)GTT>ATT		cardiac muscle ryanodine receptor							130.0	127.0	128.0					1																	237870278		1896	4128	6024	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870278G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9610G>A	1.37:g.237870278G>A	ENSP00000355533:p.Val3204Ile					RYR2_uc010pxz.1_Missense_Mutation_p.V159I	p.V3204I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9730	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3204					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9610G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903330	0.33628	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.88201	-2.35;-2.35;-2.35	5.72	2.84	0.33178	.	0.216735	0.28958	N	0.013585	T	0.74183	0.3683	N	0.08118	0	0.28118	N	0.930737	B	0.02656	0.0	B	0.06405	0.002	T	0.65384	-0.6181	10	0.56958	D	0.05	-3.7958	5.2488	0.15512	0.2928:0.1401:0.5671:0.0	.	3204	Q92736	RYR2_HUMAN	I	3204;3202;3188;159;199	ENSP00000355533:V3204I;ENSP00000353174:V3202I;ENSP00000443798:V3188I	ENSP00000353174:V3202I	V	+	1	0	RYR2	235936901	0.919000	0.31177	0.936000	0.37596	0.710000	0.40934	1.469000	0.35343	0.771000	0.33359	0.650000	0.86243	GTT		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		35	94	0	0	0	0.005524	0	35	94				
RYR2	6262	broad.mit.edu	37	1	237948103	237948103	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:237948103C>A	ENST00000366574.2	+	90	13408	c.13091C>A	c.(13090-13092)aCc>aAc	p.T4364N	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4348N|RYR2_ENST00000360064.6_Missense_Mutation_p.T4370N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4364					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T4362N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGATCTGACCGACTTAAAG	0.527																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13090-13092)ACC>AAC		cardiac muscle ryanodine receptor							53.0	52.0	52.0					1																	237948103		1920	4132	6052	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948103C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13091C>A	1.37:g.237948103C>A	ENSP00000355533:p.Thr4364Asn					RYR2_uc010pya.1_Missense_Mutation_p.T779N	p.T4364N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13211	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4364					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13091C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600776	0.28534	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93763	-3.28;-3.28;-3.28	5.03	5.03	0.67393	Ryanodine Receptor TM 4-6 (1);	0.359945	0.24801	N	0.035499	D	0.87233	0.6126	N	0.08118	0	0.80722	D	1	B;B	0.30211	0.002;0.273	B;B	0.34824	0.01;0.19	D	0.84237	0.0470	10	0.25106	T	0.35	-0.7854	18.5611	0.91100	0.0:1.0:0.0:0.0	.	1338;4364	B4DGV4;Q92736	.;RYR2_HUMAN	N	4364;4370;4348;1338	ENSP00000355533:T4364N;ENSP00000353174:T4370N;ENSP00000443798:T4348N	ENSP00000353174:T4370N	T	+	2	0	RYR2	236014726	0.999000	0.42202	0.238000	0.24106	0.026000	0.11368	5.468000	0.66743	2.613000	0.88420	0.655000	0.94253	ACC		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	28	1	0	1.06961e-07	0.00308	1.33917e-07	7	28				
NLRP3	114548	broad.mit.edu	37	1	247586625	247586625	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:247586625G>T	ENST00000336119.3	+	2	1123	c.377G>T	c.(376-378)aGa>aTa	p.R126I	NLRP3_ENST00000391827.2_Missense_Mutation_p.R126I|NLRP3_ENST00000391828.3_Missense_Mutation_p.R126I|NLRP3_ENST00000366497.2_Missense_Mutation_p.R126I|NLRP3_ENST00000366496.2_Missense_Mutation_p.R126I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.R126I	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	126					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R126I(1)|p.R126K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TACCTTTCGAGAATCTCTATT	0.458																																							uc001icr.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(376-378)AGA>ATA		NLR family, pyrin domain containing 3 isoform a							176.0	178.0	177.0					1																	247586625		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247586625G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.377G>T	1.37:g.247586625G>T	ENSP00000337383:p.Arg126Ile					NLRP3_uc001ics.2_Missense_Mutation_p.R126I|NLRP3_uc001icu.2_Missense_Mutation_p.R126I|NLRP3_uc001icw.2_Missense_Mutation_p.R126I|NLRP3_uc001icv.2_Missense_Mutation_p.R126I|NLRP3_uc010pyw.1_Missense_Mutation_p.R124I|NLRP3_uc001ict.1_Missense_Mutation_p.R124I	p.R126I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	515	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	126					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.377G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850376	0.17034	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74737	-0.78;-0.8;-0.78;-0.87;-0.8;-0.83	4.1	2.2	0.27929	.	0.295108	0.23291	N	0.049793	T	0.69178	0.3082	M	0.62723	1.935	0.44462	D	0.997397	B;B;B;B;B	0.33694	0.035;0.001;0.397;0.402;0.421	B;B;B;B;B	0.38327	0.045;0.012;0.271;0.138;0.065	T	0.64356	-0.6427	10	0.41790	T	0.15	.	6.7889	0.23689	0.2146:0.0:0.7854:0.0	.	126;126;126;126;126	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	I	126	ENSP00000375704:R126I;ENSP00000355453:R126I;ENSP00000337383:R126I;ENSP00000294752:R126I;ENSP00000355452:R126I;ENSP00000375703:R126I	ENSP00000337383:R126I	R	+	2	0	NLRP3	245653248	0.314000	0.24563	0.973000	0.42090	0.002000	0.02628	0.291000	0.18994	0.684000	0.31448	-0.140000	0.14226	AGA		0.458	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		20	62	1	0	5.49717e-05	0.00333	6.17313e-05	20	62				
NLRP3	114548	broad.mit.edu	37	1	247588117	247588117	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:247588117C>A	ENST00000336119.3	+	3	2118	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K	NLRP3_ENST00000391827.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q458K|NLRP3_ENST00000366497.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q458K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q458K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	458	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.Q458K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGAGGGAGCCAGGAGCACGG	0.597																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1372-1374)CAG>AAG		NLR family, pyrin domain containing 3 isoform a							36.0	34.0	34.0					1																	247588117		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588117C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1372C>A	1.37:g.247588117C>A	ENSP00000337383:p.Gln458Lys					NLRP3_uc001ics.2_Missense_Mutation_p.Q458K|NLRP3_uc001icu.2_Missense_Mutation_p.Q458K|NLRP3_uc001icw.2_Missense_Mutation_p.Q458K|NLRP3_uc001icv.2_Missense_Mutation_p.Q458K|NLRP3_uc010pyw.1_Missense_Mutation_p.Q456K|NLRP3_uc001ict.1_Missense_Mutation_p.Q456K	p.Q458K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1510	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	458			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1372C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307253	0.05458	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.26	3.33	0.38152	NACHT nucleoside triphosphatase (1);	0.544209	0.17051	N	0.188903	T	0.68778	0.3038	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.28605	0.02;0.077;0.217;0.026;0.036	B;B;B;B;B	0.37888	0.022;0.26;0.138;0.089;0.028	T	0.58148	-0.7687	10	0.18710	T	0.47	.	9.9563	0.41668	0.0:0.783:0.217:0.0	.	458;458;458;458;458	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	458	ENSP00000375704:Q458K;ENSP00000355453:Q458K;ENSP00000337383:Q458K;ENSP00000294752:Q458K;ENSP00000355452:Q458K;ENSP00000375703:Q458K	ENSP00000337383:Q458K	Q	+	1	0	NLRP3	245654740	0.000000	0.05858	0.006000	0.13384	0.043000	0.13939	-0.338000	0.07842	1.345000	0.45676	0.655000	0.94253	CAG		0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		6	22	1	0	0.00198382	0.001984	0.00210951	6	22				
MYO3A	53904	broad.mit.edu	37	10	26436361	26436361	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:26436361C>T	ENST00000265944.5	+	23	2674	c.2508C>T	c.(2506-2508)gtC>gtT	p.V836V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	836	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V836V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAACAGGTCCTCTATAATG	0.398																																							uc001isn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2506-2508)GTC>GTT		myosin IIIA							172.0	145.0	154.0					10																	26436361		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26436361C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2508C>T	10.37:g.26436361C>T						MYO3A_uc009xko.1_Silent_p.V836V|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.V836V	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			23	2868	+			836			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2508C>T	CCDS7148.1																																																																																				0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		24	17	0	0	0	0.00333	0	24	17				
ANKRD30A	91074	broad.mit.edu	37	10	37451731	37451731	+	Missense_Mutation	SNP	C	C	A	rs367966358		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:37451731C>A	ENST00000602533.1	+	17	1888	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P597T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P597T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	653					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P597T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAGTCTGTCCCAAATAAAGC	0.313																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1789-1791)CCA>ACA		ankyrin repeat domain 30A							112.0	101.0	104.0					10																	37451731		1801	4064	5865	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451731C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1789C>A	10.37:g.37451731C>A	ENSP00000473551:p.Pro597Thr						p.P597T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			17	1888	+			653					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1789C>A		.	.	.	.	.	.	.	.	.	.	.	0.017	-1.509436	0.00984	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05996	3.36;3.36	0.882	0.882	0.19172	.	.	.	.	.	T	0.09730	0.0239	L	0.36672	1.1	0.09310	N	1	D	0.54601	0.967	P	0.62382	0.901	T	0.31613	-0.9937	9	0.13108	T	0.6	.	5.2291	0.15412	0.0:1.0:0.0:0.0	.	653	Q9BXX3	AN30A_HUMAN	T	597	ENSP00000354432:P597T;ENSP00000363792:P597T	ENSP00000354432:P597T	P	+	1	0	ANKRD30A	37491737	0.001000	0.12720	0.011000	0.14972	0.076000	0.17211	0.389000	0.20751	0.791000	0.33826	0.089000	0.15464	CCA		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		42	17	1	0	6.21074e-16	0.011902	9.52314e-16	42	17				
ANKRD30A	91074	broad.mit.edu	37	10	37454033	37454033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:37454033C>A	ENST00000602533.1	+	18	1945	c.1846C>A	c.(1846-1848)Cca>Aca	p.P616T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P616T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P616T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	672					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P616T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAGATACTCCCATCAGAATC	0.294																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1846-1848)CCA>ACA		ankyrin repeat domain 30A							107.0	102.0	103.0					10																	37454033		1801	4059	5860	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454033C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1846C>A	10.37:g.37454033C>A	ENSP00000473551:p.Pro616Thr						p.P616T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			18	1945	+			672					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1846C>A		.	.	.	.	.	.	.	.	.	.	.	6.821	0.520702	0.13005	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07021	3.23;3.23	1.01	-2.02	0.07388	.	.	.	.	.	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	D	0.54601	0.967	P	0.62382	0.901	T	0.12553	-1.0543	9	0.30854	T	0.27	.	2.5325	0.04706	0.3725:0.2886:0.3389:0.0	.	672	Q9BXX3	AN30A_HUMAN	T	616	ENSP00000354432:P616T;ENSP00000363792:P616T	ENSP00000354432:P616T	P	+	1	0	ANKRD30A	37494039	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-0.948000	0.03668	-0.816000	0.03127	CCA		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		30	14	1	0	1.07637e-12	0.004878	1.5157e-12	30	14				
ZNF485	220992	broad.mit.edu	37	10	44112653	44112653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:44112653G>T	ENST00000361807.3	+	5	1356	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	ZNF485_ENST00000374437.2_Missense_Mutation_p.G297W|ZNF485_ENST00000374435.3_Missense_Mutation_p.G388W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G349W(1)|p.G388W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TAAGAAATGTGGGAAAGCCTT	0.448																																							uc010qfc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1162-1164)GGG>TGG		zinc finger protein 485							61.0	59.0	59.0					10																	44112653		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112653G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1162G>T	10.37:g.44112653G>T	ENSP00000354694:p.Gly388Trp					ZNF485_uc010qfd.1_Missense_Mutation_p.G297W	p.G388W	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	1356	+			388			C2H2-type 10.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.1162G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236581	0.22711	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.08008	3.14;3.14;3.14	1.59	-0.349	0.12609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31765	0.0807	M	0.93462	3.42	0.27952	N	0.937116	D	0.89917	1.0	D	0.97110	1.0	T	0.07424	-1.0773	9	0.72032	D	0.01	.	5.6029	0.17363	0.3382:0.0:0.6618:0.0	.	388	Q8NCK3	ZN485_HUMAN	W	388;297;388	ENSP00000354694:G388W;ENSP00000363560:G297W;ENSP00000363558:G388W	ENSP00000354694:G388W	G	+	1	0	ZNF485	43432659	1.000000	0.71417	0.655000	0.29622	0.984000	0.73092	2.054000	0.41335	-0.121000	0.11787	0.313000	0.20887	GGG		0.448	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		19	25	1	0	3.32936e-07	0.006122	4.03815e-07	19	25				
OR13A1	79290	broad.mit.edu	37	10	45799823	45799823	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:45799823G>A	ENST00000553795.1	-	4	356	c.48C>T	c.(46-48)ccC>ccT	p.P16P	OR13A1_ENST00000374401.2_Silent_p.P16P|OR13A1_ENST00000536058.1_Silent_p.P16P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P16P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCCTTGGGCTGGGACGGGTTT	0.512																																							uc001jcc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)CCC>CCT		olfactory receptor, family 13, subfamily A,							69.0	77.0	74.0					10																	45799823		2199	4299	6498	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799823G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.48C>T	10.37:g.45799823G>A						OR13A1_uc001jcd.1_Silent_p.P12P	p.P16P	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	357	-			16			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.48C>T	CCDS31188.1																																																																																				0.512	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		41	44	0	0	0	0.009718	0	41	44				
PCDH15	65217	broad.mit.edu	37	10	56106127	56106127	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:56106127G>T	ENST00000320301.6	-	6	986	c.592C>A	c.(592-594)Ccg>Acg	p.P198T	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.P176T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P198T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P198T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P176T|PCDH15_ENST00000414778.1_Missense_Mutation_p.P203T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P198T|PCDH15_ENST00000373965.2_Missense_Mutation_p.P198T|PCDH15_ENST00000395442.1_Missense_Mutation_p.P198T|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395430.1_Missense_Mutation_p.P198T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P198T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P198T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P198T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P203T(2)|p.P198T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACATACCGGATCATCTGGA	0.308										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(592-594)CCG>ACG		protocadherin 15 isoform CD1-4 precursor							111.0	106.0	108.0					10																	56106127		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106127G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.592C>A	10.37:g.56106127G>T	ENSP00000322604:p.Pro198Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P203T|PCDH15_uc010qhr.1_Missense_Mutation_p.P198T|PCDH15_uc010qhs.1_Missense_Mutation_p.P203T|PCDH15_uc010qht.1_Missense_Mutation_p.P198T|PCDH15_uc010qhu.1_Missense_Mutation_p.P198T|PCDH15_uc001jjv.1_Missense_Mutation_p.P176T|PCDH15_uc010qhv.1_Missense_Mutation_p.P198T|PCDH15_uc010qhw.1_Missense_Mutation_p.P198T|PCDH15_uc010qhx.1_Missense_Mutation_p.P198T|PCDH15_uc010qhy.1_Missense_Mutation_p.P203T|PCDH15_uc010qhz.1_Missense_Mutation_p.P198T|PCDH15_uc010qia.1_Missense_Mutation_p.P176T|PCDH15_uc010qib.1_Missense_Mutation_p.P176T|PCDH15_uc001jjw.2_Missense_Mutation_p.P198T	p.P198T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			6	987	-		Melanoma(3;0.117)|Lung SC(717;0.238)	198			Extracellular (Potential).|Cadherin 2.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.592C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933036	0.34096	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	2.13;2.13;2.13;2.13;2.13;2.13;2.13;0.39;2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.35	4.44	0.53790	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46852	0.1414	N	0.25380	0.74	0.33499	D	0.589725	B;B;P;P;B;B;B;B;B;B;B;B;B;B;P	0.44195	0.035;0.432;0.722;0.828;0.372;0.26;0.01;0.048;0.432;0.432;0.29;0.006;0.039;0.299;0.722	B;B;P;P;B;B;B;B;P;P;B;B;B;B;P	0.50162	0.062;0.395;0.633;0.633;0.283;0.142;0.062;0.072;0.491;0.491;0.395;0.042;0.026;0.113;0.633	T	0.57260	-0.7842	9	0.49607	T	0.09	.	7.5459	0.27766	0.0848:0.0:0.7487:0.1665	.	176;198;198;203;198;198;198;198;198;198;198;203;198;176;198	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	198;203;198;198;198;198;198;198;198;198;176;176;198;198;203;198;198	ENSP00000363076:P198T;ENSP00000410304:P203T;ENSP00000378826:P198T;ENSP00000378832:P198T;ENSP00000378833:P198T;ENSP00000378829:P198T;ENSP00000378827:P198T;ENSP00000378820:P198T;ENSP00000354950:P198T;ENSP00000378821:P176T;ENSP00000363068:P176T;ENSP00000322604:P198T;ENSP00000378818:P198T;ENSP00000412628:P198T;ENSP00000363066:P198T	ENSP00000322604:P198T	P	-	1	0	PCDH15	55776133	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.825000	0.62708	2.514000	0.84764	0.650000	0.86243	CCG		0.308	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	31	1	0	5.26018e-13	0.012319	7.42402e-13	23	31				
CDH23	64072	broad.mit.edu	37	10	73572631	73572631	+	Missense_Mutation	SNP	G	G	A	rs374156784		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:73572631G>A	ENST00000224721.6	+	67	9637	c.9632G>A	c.(9631-9633)cGt>cAt	p.R3211H	CDH23_ENST00000398788.3_Missense_Mutation_p.R966H|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3206					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R3211H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGATCATTCGTGAGGGGCCA	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.0						uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9616-9618)CGT>CAT		cadherin-like 23 isoform 1 precursor		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	4,4138		0,4,2067	46.0	49.0	48.0		2897,2897,308,308,9617	5.9	1.0	10		48	0,8394		0,0,4197	no	missense,missense,missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	29,29,29,29,29	0,4,6264	AA,AG,GG		0.0,0.0966,0.0319	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	966/1115,966/1080,103/252,103/217,3206/3355	73572631	4,12532	2071	4197	6268	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73572631G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9632G>A	10.37:g.73572631G>A	ENSP00000224721:p.Arg3211His					CDH23_uc001jsg.3_Missense_Mutation_p.R966H|CDH23_uc001jsh.3_Missense_Mutation_p.R966H|CDH23_uc001jsi.3_Missense_Mutation_p.R966H|CDH23_uc001jsj.3_Missense_Mutation_p.R103H|CDH23_uc010qjr.1_Missense_Mutation_p.R103H	p.R3206H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			66	9994	+			3206			Cytoplasmic (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9617G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.630625	0.96682	9.66E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80566	-1.39	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.88596	0.6479	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.999	D;P;D;P	0.87578	0.998;0.584;0.991;0.869	D	0.88428	0.3033	10	0.87932	D	0	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	103;103;3206;3206	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	H	3211;3206;3209;966	ENSP00000381768:R966H	ENSP00000224721:R3211H	R	+	2	0	CDH23	73242637	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	9.788000	0.99064	2.826000	0.97356	0.561000	0.74099	CGT		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		14	9	0	0	0	0.004007	0	14	9				
SFTPA2	729238	broad.mit.edu	37	10	81317230	81317230	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:81317230C>A	ENST00000372325.2	-	6	566	c.482G>T	c.(481-483)cGc>cTc	p.R161L	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R161L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.R161L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GACAGCAATGCGGCCGCCTGC	0.527									Pulmonary Fibrosis, Idiopathic																														uc001kal.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CGC>CTC		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							59.0	64.0	62.0					10																	81317230		2192	4250	6442	SO:0001583	missense	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317230C>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.482G>T	10.37:g.81317230C>A	ENSP00000361400:p.Arg161Leu					SFTPA2_uc001kan.3_Missense_Mutation_p.R161L	p.R161L	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	579	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		161			C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.482G>T	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	0.720	-0.783895	0.02907	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.19938	2.11;2.11	2.98	-5.96	0.02234	.	1.935450	0.02022	N	0.047888	T	0.14700	0.0355	L	0.39566	1.225	0.09310	N	1	B	0.22746	0.074	B	0.24701	0.055	T	0.23226	-1.0194	10	0.09843	T	0.71	-0.0314	6.8442	0.23979	0.0:0.5361:0.1527:0.3113	.	161	E3VLC8	.	L	161;127;161	ENSP00000361400:R161L;ENSP00000361402:R161L	ENSP00000361400:R161L	R	-	2	0	SFTPA2	80987236	0.000000	0.05858	0.001000	0.08648	0.626000	0.37791	-0.997000	0.03705	-0.842000	0.04195	-0.397000	0.06425	CGC		0.527	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		41	113	1	0	2.10328e-26	0.00361	3.71062e-26	41	113				
MMRN2	79812	broad.mit.edu	37	10	88702973	88702973	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:88702973T>C	ENST00000372027.5	-	6	1889	c.1568A>G	c.(1567-1569)gAc>gGc	p.D523G	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	523					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D523G(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCGCCGCTCGTCCAGGCTCAC	0.682																																							uc001kea.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1567-1569)GAC>GGC		multimerin 2 precursor							29.0	27.0	28.0					10																	88702973		2202	4297	6499	SO:0001583	missense	79812					extracellular space		g.chr10:88702973T>C	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1568A>G	10.37:g.88702973T>C	ENSP00000361097:p.Asp523Gly					MMRN2_uc010qmn.1_Missense_Mutation_p.D166G|MMRN2_uc009xtb.2_Missense_Mutation_p.D480G	p.D523G	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	1695	-			523					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1568A>G	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501201	0.26861	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.70749	-0.51	5.69	0.68	0.17980	.	0.660669	0.14259	N	0.330906	T	0.61048	0.2316	L	0.56769	1.78	0.09310	N	1	B;B;B	0.20887	0.006;0.006;0.049	B;B;B	0.17433	0.004;0.004;0.018	T	0.51733	-0.8668	10	0.45353	T	0.12	-16.9798	5.4083	0.16335	0.0:0.2863:0.1376:0.5761	.	301;462;523	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	G	523;301	ENSP00000361097:D523G	ENSP00000361097:D523G	D	-	2	0	MMRN2	88692953	0.240000	0.23847	0.005000	0.12908	0.630000	0.37929	1.430000	0.34914	-0.111000	0.12001	0.379000	0.24179	GAC		0.682	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		14	29	0	0	0	0.00245	0	14	29				
STAMBPL1	57559	broad.mit.edu	37	10	90670738	90670738	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:90670738C>T	ENST00000371926.3	+	5	1348	c.390C>T	c.(388-390)aaC>aaT	p.N130N	STAMBPL1_ENST00000371922.1_5'Flank|STAMBPL1_ENST00000371924.1_Silent_p.N130N|STAMBPL1_ENST00000371927.3_Silent_p.N130N	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	130						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.N130N(2)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAATATAACGTAGAATACC	0.269																																							uc001kfk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(388-390)AAC>AAT		STAM binding protein-like 1							48.0	50.0	49.0					10																	90670738		2203	4289	6492	SO:0001819	synonymous_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90670738C>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.390C>T	10.37:g.90670738C>T						STAMBPL1_uc010qmx.1_Silent_p.N130N|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.N130N|STAMBPL1_uc001kfn.2_5'Flank	p.N130N	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	5	813	+		Colorectal(252;0.0381)	130					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	c.390C>T	CCDS7391.1																																																																																				0.269	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		13	53	0	0	0	0.00245	0	13	53				
ANKRD1	27063	broad.mit.edu	37	10	92678728	92678728	+	Splice_Site	SNP	G	G	T	rs142354133	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:92678728G>T	ENST00000371697.3	-	4	595	c.347C>A	c.(346-348)aCg>aAg	p.T116K		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	116			T -> M (in TAPVR; dbSNP:rs142354133). {ECO:0000269|PubMed:18273862}.		cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.T116K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CACAGGTTCCGTCTAAAGCCA	0.363																																							uc001khe.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM081517	ANKRD1	M	rs142354133	c.(346-348)ACG>AAG		cardiac ankyrin repeat protein							53.0	63.0	60.0					10																	92678728		2202	4300	6502	SO:0001630	splice_region_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92678728G>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.346-1C>A	10.37:g.92678728G>T							p.T116K	NM_014391	NP_055206	Q15327	ANKR1_HUMAN			4	595	-		Colorectal(252;0.0475)	116		T -> M (in TAPVR).			Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.347C>A	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183956	0.38609	.	.	ENSG00000148677	ENST00000371697	T	0.67523	-0.27	5.52	5.52	0.82312	.	0.218632	0.40222	N	0.001148	T	0.50154	0.1599	N	0.19112	0.55	0.51012	D	0.999905	B	0.27351	0.176	B	0.33568	0.166	T	0.43097	-0.9412	10	0.06365	T	0.9	.	13.0762	0.59089	0.0738:0.0:0.9262:0.0	.	116	Q15327	ANKR1_HUMAN	K	116	ENSP00000360762:T116K	ENSP00000360762:T116K	T	-	2	0	ANKRD1	92668708	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.293000	0.51779	2.756000	0.94617	0.563000	0.77884	ACG		0.363	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	Missense_Mutation	28	30	1	0	7.01153e-11	0.007291	9.46557e-11	28	30				
LGI1	9211	broad.mit.edu	37	10	95557473	95557473	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:95557473C>T	ENST00000371418.4	+	8	1847	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.S481S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	529					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.S529S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CACATGTGTCCATTAATAAGC	0.353																																							uc001kjc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1585-1587)TCC>TCT		leucine-rich, glioma inactivated 1 precursor							74.0	76.0	75.0					10																	95557473		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557473C>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1587C>T	10.37:g.95557473C>T						LGI1_uc010qnv.1_Silent_p.S481S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	p.S529S	NM_005097	NP_005088	O95970	LGI1_HUMAN			8	1923	+		Colorectal(252;0.124)	529			EAR 7.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.1587C>T	CCDS7431.1																																																																																				0.353	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		35	65	0	0	0	0.002836	0	35	65				
CHUK	1147	broad.mit.edu	37	10	101978830	101978830	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:101978830C>A	ENST00000370397.7	-	7	710	c.624G>T	c.(622-624)ggG>ggT	p.G208G		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.G208G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATACCATGGTCCCAAAGCTCC	0.418																																					Ovarian(159;52 1904 10536 35305 37148)	Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(622-624)GGG>GGT		conserved helix-loop-helix ubiquitous kinase							92.0	90.0	91.0					10																	101978830		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101978830C>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.624G>T	10.37:g.101978830C>A							p.G208G	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	7	679	-		Colorectal(252;0.117)	208			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.624G>T	CCDS7488.1																																																																																				0.418	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		36	62	1	0	6.97489e-18	0.004878	1.11923e-17	36	62				
TLX1	3195	broad.mit.edu	37	10	102894055	102894055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:102894055G>T	ENST00000370196.6	+	2	2734	c.692G>T	c.(691-693)cGc>cTc	p.R231L	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_Missense_Mutation_p.R231L			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	231					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R231L(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCGGCCGAGCGCGCCGCCCTG	0.657			T	"""TRB@, TRD@"""	T-ALL																																		uc001ksw.2		NA		Dom	yes		10	10q24	3195	T	""" T-cell leukemia, homeobox 1 (HOX11)"""			L	TRB@|TRD@		T-ALL		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(691-693)CGC>CTC		T-cell leukemia homeobox 1							26.0	28.0	27.0					10																	102894055		2199	4299	6498	SO:0001583	missense	3195					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:102894055G>T	M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.692G>T	10.37:g.102894055G>T	ENSP00000359215:p.Arg231Leu						p.R231L	NM_005521	NP_005512	P31314	TLX1_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	2	930	+			231			Homeobox.		A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	c.692G>T	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	G	37	6.005881	0.97195	.	.	ENSG00000107807	ENST00000370196;ENST00000467928	D;D	0.97328	-4.34;-4.3	6.04	6.04	0.98038	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	231	P31314	TLX1_HUMAN	L	231	ENSP00000359215:R231L;ENSP00000434914:R231L	ENSP00000359215:R231L	R	+	2	0	TLX1	102884045	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	CGC		0.657	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521		6	9	1	0	8.12818e-05	0.001984	9.07842e-05	6	9				
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:120802195C>G	ENST00000369144.3	-	19	2964	c.2837G>C	c.(2836-2838)aGa>aCa	p.R946T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R912T	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	113					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R946T(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567																																							uc001ldu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2836-2838)AGA>ACA		eukaryotic translation initiation factor 3,							131.0	137.0	135.0					10																	120802195		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802195C>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2837G>C	10.37:g.120802195C>G	ENSP00000358140:p.Arg946Thr					EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR	p.R946T	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2983	-		Lung NSC(174;0.094)|all_lung(145;0.123)	946			3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2837G>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581912	0.46006	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26067	1.76;1.83	6.16	5.26	0.73747	.	0.162067	0.28659	N	0.014576	T	0.27731	0.0682	M	0.68952	2.095	0.43531	D	0.995811	B	0.23650	0.089	B	0.16289	0.015	T	0.02444	-1.1158	10	0.41790	T	0.15	-15.5933	12.3488	0.55136	0.0:0.8747:0.0:0.1253	.	946	Q14152	EIF3A_HUMAN	T	946;912	ENSP00000358140:R946T;ENSP00000438178:R912T	ENSP00000358140:R946T	R	-	2	0	EIF3A	120792185	0.968000	0.33430	1.000000	0.80357	0.270000	0.26580	1.019000	0.30014	2.937000	0.99478	0.650000	0.86243	AGA		0.567	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		77	112	0	0	0	0.00361	0	77	112				
EDRF1	26098	broad.mit.edu	37	10	127441455	127441455	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:127441455A>G	ENST00000356792.4	+	23	3597	c.3365A>G	c.(3364-3366)cAg>cGg	p.Q1122R	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.Q1088R|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q1088R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCTTATCCAGAAGGAGCTT	0.388																																							uc001liq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(3364-3366)CAG>CGG		erythroid differentiation-related factor 1							150.0	145.0	147.0					10																	127441455		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127441455A>G																												ENST00000356792.4:c.3365A>G	10.37:g.127441455A>G	ENSP00000349244:p.Gln1122Arg					C10orf137_uc001lio.1_Missense_Mutation_p.Q1088R|C10orf137_uc001lip.1_Missense_Mutation_p.Q826R|C10orf137_uc001lis.1_Missense_Mutation_p.Q448R|C10orf137_uc001lit.1_Missense_Mutation_p.Q32R	p.Q1122R	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			23	3658	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1122					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.3365A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	3.017	-0.202585	0.06219	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.39406	1.08;1.08	5.63	2.46	0.29980	.	0.423928	0.26103	N	0.026322	T	0.22551	0.0544	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24977	-1.0145	10	0.09843	T	0.71	.	8.7144	0.34403	0.3208:0.0:0.6792:0.0	.	1122;469;1088	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	R	1122;1088	ENSP00000349244:Q1122R;ENSP00000336727:Q1088R	ENSP00000336727:Q1088R	Q	+	2	0	C10orf137	127431445	0.004000	0.15560	0.016000	0.15963	0.543000	0.35085	1.452000	0.35156	0.213000	0.20722	-0.248000	0.11899	CAG		0.388	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			17	38	0	0	0	0.006122	0	17	38				
EBF3	253738	broad.mit.edu	37	10	131666055	131666055	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:131666055C>T	ENST00000355311.5	-	9	975	c.903G>A	c.(901-903)gtG>gtA	p.V301V	EBF3_ENST00000368648.3_Silent_p.V292V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	301	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V292V(1)|p.V301V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTCGCTCCACACCAACATAG	0.532																																							uc001lki.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(874-876)GTG>GTA		early B-cell factor 3							113.0	91.0	99.0					10																	131666055		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131666055C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.903G>A	10.37:g.131666055C>T							p.V292V	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	9	935	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	301			IPT/TIG.		A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.876G>A																																																																																					0.532	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		16	18	0	0	0	0.003163	0	16	18				
CYP2E1	1571	broad.mit.edu	37	10	135352302	135352302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:135352302G>T	ENST00000463117.2	+	11	1588	c.1316G>T	c.(1315-1317)gGa>gTa	p.G439V	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.G439V			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	439					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.G439V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GTGTGTGCTGGAGAAGGCCTG	0.468									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																														uc001lnj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3						c.(1315-1317)GGA>GTA		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						270.0	228.0	243.0					10																	135352302		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352302G>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1316G>T	10.37:g.135352302G>T	ENSP00000440689:p.Gly439Val					CYP2E1_uc001lnk.1_Missense_Mutation_p.G302V|CYP2E1_uc009ybl.1_Missense_Mutation_p.G240V|CYP2E1_uc009ybm.1_Missense_Mutation_p.G93V|CYP2E1_uc001lnl.1_Intron	p.G439V	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	9	1349	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	439					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1316G>T	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636387	0.67130	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.99	4.99	0.66335	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98156	1.0444	10	0.87932	D	0	.	16.1631	0.81732	0.0:0.0:1.0:0.0	.	439	P05181	CP2E1_HUMAN	V	439;439;352;302	ENSP00000440689:G439V;ENSP00000252945:G439V;ENSP00000412754:G352V;ENSP00000397299:G302V	ENSP00000252945:G439V	G	+	2	0	CYP2E1	135202292	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	8.137000	0.89612	2.772000	0.95346	0.561000	0.74099	GGA		0.468	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		51	80	1	0	1.22102e-19	0.00361	2.03831e-19	51	80				
MUC6	4588	broad.mit.edu	37	11	1018123	1018123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1018123G>T	ENST00000421673.2	-	31	4728	c.4678C>A	c.(4678-4680)Cac>Aac	p.H1560N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1560	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.H1560N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTTGGTGTGGGCCACAGGG	0.582																																							uc001lsw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4678-4680)CAC>AAC		mucin 6, gastric							241.0	252.0	248.0					11																	1018123		2180	4266	6446	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018123G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4678C>A	11.37:g.1018123G>T	ENSP00000406861:p.His1560Asn						p.H1560N	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4729	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1560			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.4678C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	g	4.335	0.061653	0.08339	.	.	ENSG00000184956	ENST00000421673	T	0.39229	1.09	1.9	-1.42	0.08913	.	.	.	.	.	T	0.27278	0.0669	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.16289	0.015	T	0.19386	-1.0307	9	0.33940	T	0.23	.	5.1904	0.15207	0.0:0.4698:0.3206:0.2096	.	1560	Q6W4X9	MUC6_HUMAN	N	1560	ENSP00000406861:H1560N	ENSP00000406861:H1560N	H	-	1	0	MUC6	1008123	0.970000	0.33590	0.000000	0.03702	0.001000	0.01503	0.235000	0.17948	-0.372000	0.07992	-2.075000	0.00382	CAC		0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	174	1	0	1.99824e-07	0.00499	2.45238e-07	9	174				
BRSK2	9024	broad.mit.edu	37	11	1464734	1464734	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1464734G>T	ENST00000528841.1	+	8	1033	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	BRSK2_ENST00000308230.5_Missense_Mutation_p.D217Y|BRSK2_ENST00000308219.9_Missense_Mutation_p.D217Y|BRSK2_ENST00000382179.1_Missense_Mutation_p.D263Y|BRSK2_ENST00000531197.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000526678.1_Missense_Mutation_p.D217Y|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Missense_Mutation_p.D157Y			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.D217Y(2)		endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCTGCCCTTCGACGATGACAA	0.677																																							uc001lti.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(649-651)GAC>TAC		BR serine/threonine kinase 2							20.0	25.0	23.0					11																	1464734		2149	4280	6429	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1464734G>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.649G>T	11.37:g.1464734G>T	ENSP00000432000:p.Asp217Tyr					BRSK2_uc009ycv.1_Missense_Mutation_p.D217Y|BRSK2_uc001lth.1_Missense_Mutation_p.D217Y|BRSK2_uc001ltj.2_Missense_Mutation_p.D217Y|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.D217Y|BRSK2_uc001ltm.2_Missense_Mutation_p.D263Y|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.D217Y	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	8	1035	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	217			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.649G>T	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188592	0.78789	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	3.26	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061258	0.64402	U	0.000006	T	0.73385	0.3580	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.981;0.999;0.981;0.999;0.998	T	0.77795	-0.2454	10	0.87932	D	0	.	15.0479	0.71841	0.0:0.0:1.0:0.0	.	217;263;217;217;217	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	Y	217;217;217;217;217;157;263	ENSP00000310697:D217Y;ENSP00000431152:D217Y;ENSP00000310805:D217Y;ENSP00000432000:D217Y;ENSP00000433370:D217Y;ENSP00000433235:D157Y;ENSP00000371614:D263Y	ENSP00000310697:D217Y	D	+	1	0	BRSK2	1421310	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	5.810000	0.69179	1.835000	0.53391	0.306000	0.20318	GAC		0.677	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		8	3	1	0	5.18039e-06	0.00308	6.02439e-06	8	3				
KRTAP5-5	439915	broad.mit.edu	37	11	1651688	1651688	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:1651688A>T	ENST00000399676.2	+	1	656	c.618A>T	c.(616-618)tcA>tcT	p.S206S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	206	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.S206S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGCTTCTCAGGCTGTGGAT	0.592																																							uc001lty.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(616-618)TCA>TCT		keratin associated protein 5-5							115.0	122.0	120.0					11																	1651688		2202	4299	6501	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651688A>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.618A>T	11.37:g.1651688A>T							p.S206S	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	656	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	206			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Silent	SNP	ENST00000399676.2	37	c.618A>T	CCDS41592.1																																																																																				0.592	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			101	60	0	0	0	0.00361	0	101	60				
OR51E1	143503	broad.mit.edu	37	11	4674333	4674333	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:4674333G>T	ENST00000396952.5	+	2	1227	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D192Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGGCCTGTGATGATATCCG	0.498																																							uc001lzi.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|pancreas(1)	4						c.(577-579)GAT>TAT		olfactory receptor, family 51, subfamily E,							238.0	204.0	216.0					11																	4674333		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674333G>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.577G>T	11.37:g.4674333G>T	ENSP00000380155:p.Asp193Tyr						p.D193Y	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	721	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	192			Extracellular (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.577G>T	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242636	0.22796	.	.	ENSG00000180785	ENST00000396952	T	0.37235	1.21	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.108387	0.41294	D	0.000914	T	0.42426	0.1202	L	0.58583	1.82	0.80722	D	1	B	0.20988	0.05	B	0.36092	0.217	T	0.43637	-0.9379	10	0.87932	D	0	.	12.8505	0.57855	0.0:0.0:0.8364:0.1636	.	192	Q8TCB6	O51E1_HUMAN	Y	193	ENSP00000380155:D193Y	ENSP00000380155:D193Y	D	+	1	0	OR51E1	4630909	0.231000	0.23751	1.000000	0.80357	0.652000	0.38707	2.925000	0.48884	2.605000	0.88082	0.655000	0.94253	GAT		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		23	106	1	0	4.22769e-11	0.00632	5.74485e-11	23	106				
Unknown	0	broad.mit.edu	37	11	5989509	5989509	+	IGR	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:5989509C>A								OR56A3 (19918 upstream) : OR52L1 (17612 downstream)																							GTACGATGTCCAGCAGGGAGA	0.572																																							uc010qzu.1		NA																	0					0						c.(214-216)CTG>CTT		olfactory receptor, family 56, subfamily A,							73.0	73.0	73.0					11																	5989509		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989509C>A																													11.37:g.5989509C>A							p.L72L	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			1	216	-			72			Helical; Name=2; (Potential).			Silent	SNP		37	c.216G>T																																																																																				0	0.572									7	29	1	0	3.09899e-07	0.004482	3.77347e-07	7	29				
FAM160A2	84067	broad.mit.edu	37	11	6244992	6244992	+	Missense_Mutation	SNP	G	G	A	rs373467266		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:6244992G>A	ENST00000449352.2	-	3	888	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R209C|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R209C			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	209					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R209C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGAAGACGGGGAGCGGCT	0.582																																							uc001mcl.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(625-627)CGT>TGT		hypothetical protein LOC84067 isoform 2		G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	84.0	99.0	94.0		625,625	5.1	1.0	11		94	2,8590	2.2+/-6.3	0,2,4294	no	missense,missense	FAM160A2	NM_001098794.1,NM_032127.3	180,180	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	209/973,209/987	6244992	2,12992	2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244992G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.625C>T	11.37:g.6244992G>A	ENSP00000416918:p.Arg209Cys					FAM160A2_uc001mck.3_Missense_Mutation_p.R209C|FAM160A2_uc001mcm.2_Missense_Mutation_p.R209C	p.R209C	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			3	984	-			209					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.625C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510147	0.64522	0.0	2.33E-4	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.32272	1.46;1.46;1.46	5.1	5.1	0.69264	.	0.109652	0.64402	D	0.000017	T	0.40909	0.1136	L	0.29908	0.895	0.48511	D	0.999666	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.74348	0.983;0.935;0.878	T	0.19712	-1.0297	10	0.62326	D	0.03	-30.8505	11.1776	0.48610	0.0:0.0:0.7156:0.2844	.	209;209;209	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	C	209;134;209;209	ENSP00000416918:R209C;ENSP00000265978:R209C;ENSP00000431773:R209C	ENSP00000265978:R209C	R	-	1	0	FAM160A2	6201568	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.133000	0.50531	2.671000	0.90904	0.655000	0.94253	CGT		0.582	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		78	40	0	0	0	0.00361	0	78	40				
KCNC1	3746	broad.mit.edu	37	11	17794029	17794029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:17794029C>A	ENST00000379472.3	+	2	1418	c.1388C>A	c.(1387-1389)cCa>cAa	p.P463Q	KCNC1_ENST00000265969.6_Missense_Mutation_p.P463Q	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	463					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.P463Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ATTCCGCGGCCACCGCAGCTG	0.468																																							uc001mnk.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1387-1389)CCA>CAA		Shaw-related voltage-gated potassium channel							50.0	57.0	55.0					11																	17794029		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794029C>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1388C>A	11.37:g.17794029C>A	ENSP00000368785:p.Pro463Gln					KCNC1_uc009yhc.1_Missense_Mutation_p.P463Q	p.P463Q	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	1443	+			463			Cytoplasmic (Potential).		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1388C>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651256	0.67472	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97041	-4.22;-4.2	5.24	5.24	0.73138	.	0.398493	0.30068	N	0.010489	D	0.97368	0.9139	L	0.59436	1.845	0.58432	D	0.999997	P;P	0.42248	0.754;0.774	P;P	0.52909	0.62;0.713	D	0.96972	0.9709	10	0.37606	T	0.19	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	463;463	Q3KNS8;P48547	.;KCNC1_HUMAN	Q	463	ENSP00000265969:P463Q;ENSP00000368785:P463Q	ENSP00000265969:P463Q	P	+	2	0	KCNC1	17750605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.445000	0.82738	0.561000	0.74099	CCA		0.468	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		14	56	1	0	6.72482e-11	0.003163	9.09829e-11	14	56				
KCNC1	3746	broad.mit.edu	37	11	17794031	17794031	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:17794031C>T	ENST00000379472.3	+	2	1420	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S	KCNC1_ENST00000265969.6_Missense_Mutation_p.P464S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	464					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.P464S(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TCCGCGGCCACCGCAGCTGGG	0.473																																							uc001mnk.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1390-1392)CCG>TCG		Shaw-related voltage-gated potassium channel							50.0	58.0	55.0					11																	17794031		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17794031C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1390C>T	11.37:g.17794031C>T	ENSP00000368785:p.Pro464Ser					KCNC1_uc009yhc.1_Missense_Mutation_p.P464S	p.P464S	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	1445	+			464			Cytoplasmic (Potential).		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1390C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595605	0.46318	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97066	-4.23;-4.21	5.24	5.24	0.73138	.	0.109676	0.64402	D	0.000004	D	0.97911	0.9313	L	0.54908	1.71	0.80722	D	1	B;D	0.89917	0.019;1.0	B;D	0.91635	0.033;0.999	D	0.98481	1.0605	10	0.52906	T	0.07	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	464;464	Q3KNS8;P48547	.;KCNC1_HUMAN	S	464	ENSP00000265969:P464S;ENSP00000368785:P464S	ENSP00000265969:P464S	P	+	1	0	KCNC1	17750607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.445000	0.82738	0.561000	0.74099	CCG		0.473	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		14	55	0	0	0	0.003163	0	14	55				
WT1	7490	broad.mit.edu	37	11	32414272	32414272	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:32414272C>A	ENST00000379079.2	-	8	916	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	WT1_ENST00000332351.3_Missense_Mutation_p.D427Y|WT1_ENST00000448076.3_Missense_Mutation_p.D427Y|WT1_ENST00000530998.1_Missense_Mutation_p.D198Y	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	359					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D215Y(1)|p.D359Y(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGTTCACAGTCCTTGAAGTCA	0.443			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														uc001mtn.1		NA	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1279-1281)GAC>TAC		Wilms tumor 1 isoform D							177.0	151.0	159.0					11																	32414272		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32414272C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.643G>T	11.37:g.32414272C>A	ENSP00000368370:p.Asp215Tyr					WT1_uc001mtl.1_Missense_Mutation_p.D215Y|WT1_uc001mtm.1_Missense_Mutation_p.D198Y|WT1_uc001mto.1_Missense_Mutation_p.D427Y|WT1_uc001mtp.1_Missense_Mutation_p.D410Y|WT1_uc001mtq.1_Missense_Mutation_p.D410Y|WT1_uc009yjs.1_RNA	p.D427Y	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		8	1475	-	Breast(20;0.247)		359			C2H2-type 2.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1279G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022332	0.93462	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.49795	0.1578	N	0.21583	0.68	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.996;0.998;0.987;0.971	D;D;D;D;D	0.78314	0.976;0.991;0.99;0.956;0.957	T	0.51888	-0.8648	10	0.87932	D	0	.	20.263	0.98456	0.0:1.0:0.0:0.0	.	415;359;432;198;215	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	Y	215;427;198;410;427	ENSP00000368370:D215Y;ENSP00000331327:D427Y;ENSP00000435307:D198Y;ENSP00000415516:D410Y;ENSP00000413452:D427Y	ENSP00000331327:D427Y	D	-	1	0	WT1	32370848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.868000	0.98415	0.555000	0.69702	GAC		0.443	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		8	46	1	0	0.00307968	0.00308	0.00325252	8	46				
API5	8539	broad.mit.edu	37	11	43348161	43348161	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:43348161G>T	ENST00000531273.1	+	7	994	c.855G>T	c.(853-855)gaG>gaT	p.E285D	API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Splice_Site_p.E285D|API5_ENST00000378852.3_Splice_Site_p.E285D|API5_ENST00000420461.2_Splice_Site_p.E231D|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Splice_Site_p.E274D			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	285	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.E285D(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TACAGTTGGAGGTAAGCAAAA	0.388																																					Pancreas(1;98 122 5625 20895 49453)	Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(853-855)GAG>GAT		apoptosis inhibitor 5 isoform a							101.0	104.0	103.0					11																	43348161		2203	4300	6503	SO:0001630	splice_region_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43348161G>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.855+1G>T	11.37:g.43348161G>T						API5_uc010rfg.1_Missense_Mutation_p.E274D|API5_uc001mxf.2_Missense_Mutation_p.E285D|API5_uc010rfi.1_Missense_Mutation_p.E231D|API5_uc001mxg.2_Missense_Mutation_p.E159D	p.E285D	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			7	1028	+			285					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.855G>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077965	0.94000	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34250	0.0891	N	0.26042	0.785	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.979;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.998;0.982;0.996;0.996	T	0.02691	-1.1123	10	0.15499	T	0.54	-27.893	19.8722	0.96854	0.0:0.0:1.0:0.0	.	231;285;274;285;285	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	D	274;285;231;285;285	ENSP00000399341:E274D;ENSP00000431391:E285D;ENSP00000402540:E231D;ENSP00000368129:E285D;ENSP00000434462:E285D	ENSP00000368129:E285D	E	+	3	2	API5	43304737	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.717000	0.74707	2.793000	0.96121	0.655000	0.94253	GAG		0.388	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595	Missense_Mutation	26	82	1	0	9.39395e-14	0.00632	1.35982e-13	26	82				
OR4C46	119749	broad.mit.edu	37	11	51516152	51516152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:51516152C>A	ENST00000328188.1	+	1	871	c.871C>A	c.(871-873)Cag>Aag	p.Q291K		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q291K(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAAGAATGCCCAGATGAAAAA	0.358																																							uc010ric.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(871-873)CAG>AAG		olfactory receptor, family 4, subfamily C,							46.0	38.0	41.0					11																	51516152		2195	4278	6473	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51516152C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.871C>A	11.37:g.51516152C>A	ENSP00000329056:p.Gln291Lys						p.Q291K	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	871	+			291			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.871C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	2.440	-0.328892	0.05314	.	.	ENSG00000185926	ENST00000328188	T	0.36699	1.24	2.47	-1.66	0.08265	.	0.000000	0.35970	U	0.002867	T	0.23532	0.0569	L	0.35644	1.08	0.09310	N	1	P	0.37423	0.594	B	0.32465	0.146	T	0.24083	-1.0170	10	0.87932	D	0	.	11.5143	0.50511	0.0:0.2789:0.7211:0.0	.	291	A6NHA9	O4C46_HUMAN	K	291	ENSP00000329056:Q291K	ENSP00000329056:Q291K	Q	+	1	0	OR4C46	51372728	0.268000	0.24133	0.130000	0.21974	0.036000	0.12997	0.920000	0.28705	-0.040000	0.13580	0.121000	0.15741	CAG		0.358	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		5	37	1	0	4.68919e-08	0.008291	5.96719e-08	5	37				
OR4A15	81328	broad.mit.edu	37	11	55135976	55135976	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:55135976T>A	ENST00000314706.3	+	1	617	c.617T>A	c.(616-618)cTg>cAg	p.L206Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L206Q(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GACAACTTCCTGTGTGATTTG	0.438																																							uc010rif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(616-618)CTG>CAG		olfactory receptor, family 4, subfamily A,							141.0	130.0	133.0					11																	55135976		2200	4276	6476	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135976T>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.617T>A	11.37:g.55135976T>A	ENSP00000325065:p.Leu206Gln						p.L206Q	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	617	+			206			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.617T>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	7.843	0.722332	0.15439	.	.	ENSG00000181958	ENST00000314706	T	0.00174	8.62	3.65	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	1.744790	0.03599	N	0.233109	T	0.00384	0.0012	L	0.61036	1.89	0.09310	N	1	P	0.45126	0.851	P	0.53266	0.722	T	0.51052	-0.8754	10	0.66056	D	0.02	.	8.8102	0.34963	0.0:0.0:0.3664:0.6336	.	206	Q8NGL6	O4A15_HUMAN	Q	206	ENSP00000325065:L206Q	ENSP00000325065:L206Q	L	+	2	0	OR4A15	54892552	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.081000	0.14823	0.030000	0.15379	-0.776000	0.03382	CTG		0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		22	103	0	0	0	0.002299	0	22	103				
OR9I1	219954	broad.mit.edu	37	11	57886584	57886584	+	Silent	SNP	C	C	T	rs144479851		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:57886584C>T	ENST00000302610.1	-	1	332	c.333G>A	c.(331-333)gaG>gaA	p.E111E	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111E(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAGAAAGCACTCTGTGCCTG	0.557																																							uc001nml.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(331-333)GAG>GAA		olfactory receptor, family 9, subfamily I,		C		0,4402		0,0,2201	71.0	62.0	65.0		333	3.1	1.0	11	dbSNP_134	65	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous	OR9I1	NM_001005211.1		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		111/315	57886584	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886584C>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.333G>A	11.37:g.57886584C>T						OR9Q1_uc001nmj.2_Intron	p.E111E	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	333	-		Breast(21;0.0589)	111			Helical; Name=3; (Potential).		Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.333G>A	CCDS31542.1																																																																																				0.557	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		6	30	0	0	0	0.001168	0	6	30				
MS4A2	2206	broad.mit.edu	37	11	59857214	59857214	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:59857214G>A	ENST00000278888.3	+	2	208	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	36					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.G36S(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGTATCTTCAGGCAGACTATT	0.463																																							uc001nop.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)GGC>AGC		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						129.0	125.0	126.0					11																	59857214		2201	4295	6496	SO:0001583	missense	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59857214G>A	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.106G>A	11.37:g.59857214G>A	ENSP00000278888:p.Gly36Ser					MS4A2_uc009ymu.2_Missense_Mutation_p.G36S	p.G36S	NM_000139	NP_000130	Q01362	FCERB_HUMAN			2	208	+		all_epithelial(135;0.245)	36			Cytoplasmic (Potential).		Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	c.106G>A	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	5.823	0.336087	0.11013	.	.	ENSG00000149534	ENST00000524868;ENST00000278888	D;T	0.90385	-2.66;2.11	0.418	-0.835	0.10775	.	10.136200	0.00397	N	0.000059	T	0.76104	0.3941	N	0.14661	0.345	0.09310	N	1	B	0.31893	0.345	B	0.14578	0.011	T	0.71192	-0.4665	9	0.02654	T	1	28.7665	.	.	.	.	36	Q01362	FCERB_HUMAN	S	36	ENSP00000433311:G36S;ENSP00000278888:G36S	ENSP00000278888:G36S	G	+	1	0	MS4A2	59613790	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.364000	0.20325	-0.521000	0.06426	-0.515000	0.04445	GGC		0.463	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1			50	33	0	0	0	0.00361	0	50	33				
VWCE	220001	broad.mit.edu	37	11	61040724	61040724	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:61040724C>A	ENST00000335613.5	-	13	2032	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	VWCE_ENST00000535710.1_Missense_Mutation_p.R14L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	549	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R549L(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGGCCCAGCCGCCACTCTTC	0.657																																							uc001nra.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1645-1647)CGG>CTG		von Willebrand factor C and EGF domains							31.0	31.0	31.0					11																	61040724		2202	4299	6501	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61040724C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1646G>T	11.37:g.61040724C>A	ENSP00000334186:p.Arg549Leu					VWCE_uc001nrb.2_RNA	p.R549L	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			13	1925	-			549			VWFC 3.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1646G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	8.126	0.782059	0.16189	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.72167	-0.63;-0.63	4.53	-0.35	0.12606	von Willebrand factor, type C (4);	0.864292	0.09660	N	0.772570	T	0.33206	0.0855	N	0.01277	-0.915	0.22571	N	0.998977	B	0.06786	0.001	B	0.09377	0.004	T	0.28870	-1.0030	10	0.11485	T	0.65	.	3.3406	0.07116	0.5038:0.2265:0.0:0.2697	.	549	Q96DN2	VWCE_HUMAN	L	549;14	ENSP00000334186:R549L;ENSP00000442570:R14L	ENSP00000334186:R549L	R	-	2	0	VWCE	60797300	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	0.929000	0.28844	0.329000	0.23460	0.471000	0.43371	CGG		0.657	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		7	28	1	0	5.18039e-06	0.00308	6.02439e-06	7	28				
DDB1	1642	broad.mit.edu	37	11	61077401	61077401	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:61077401T>C	ENST00000301764.7	-	20	2830	c.2433A>G	c.(2431-2433)gaA>gaG	p.E811E	DDB1_ENST00000450997.2_Silent_p.E122E	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	811	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.E811E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGGGCATATTCATTCTGCA	0.498								Nucleotide excision repair (NER)																															uc001nrc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2431-2433)GAA>GAG	NER	damage-specific DNA binding protein 1							140.0	134.0	136.0					11																	61077401		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61077401T>C	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2433A>G	11.37:g.61077401T>C						DDB1_uc010rle.1_Silent_p.E122E|DDB1_uc010rlf.1_Silent_p.E811E	p.E811E	NM_001923	NP_001914	Q16531	DDB1_HUMAN			20	2659	-			811			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.2433A>G	CCDS31576.1																																																																																				0.498	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		19	85	0	0	0	0.012319	0	19	85				
AHNAK	79026	broad.mit.edu	37	11	62293785	62293785	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:62293785T>A	ENST00000378024.4	-	5	8378	c.8104A>T	c.(8104-8106)Atc>Ttc	p.I2702F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2702					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I2702F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCTTTGATATTCATCTCT	0.458																																							uc001ntl.2		NA																	1	Substitution - Missense(1)	p.I2702M(1)	lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8104-8106)ATC>TTC		AHNAK nucleoprotein isoform 1							192.0	190.0	191.0					11																	62293785		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293785T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8104A>T	11.37:g.62293785T>A	ENSP00000367263:p.Ile2702Phe					AHNAK_uc001ntk.1_Intron	p.I2702F	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8404	-		Melanoma(852;0.155)	2702					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8104A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	8.470	0.857269	0.17106	.	.	ENSG00000124942	ENST00000378024	T	0.11604	2.76	4.65	-3.77	0.04346	.	.	.	.	.	T	0.04724	0.0128	N	0.17474	0.49	0.19300	N	0.999971	B	0.12630	0.006	B	0.13407	0.009	T	0.46843	-0.9162	9	0.08179	T	0.78	-1.5199	6.7912	0.23701	0.5021:0.0:0.1309:0.367	.	2702	Q09666	AHNK_HUMAN	F	2702	ENSP00000367263:I2702F	ENSP00000367263:I2702F	I	-	1	0	AHNAK	62050361	0.000000	0.05858	0.007000	0.13788	0.768000	0.43524	-5.329000	0.00131	-0.529000	0.06358	0.392000	0.25879	ATC		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		39	156	0	0	0	0.004878	0	39	156				
CCDC87	55231	broad.mit.edu	37	11	66359007	66359007	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:66359007C>A	ENST00000333861.3	-	1	1547	c.1480G>T	c.(1480-1482)Gtc>Ttc	p.V494F	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	494					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.V494F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCCTTGTAGACCTCCCTGGTA	0.488																																							uc001oiq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1480-1482)GTC>TTC		coiled-coil domain containing 87							113.0	113.0	113.0					11																	66359007		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359007C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1480G>T	11.37:g.66359007C>A	ENSP00000328487:p.Val494Phe					CCS_uc001oir.2_5'Flank	p.V494F	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1548	-			494					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1480G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178633	0.38511	.	.	ENSG00000182791	ENST00000333861	T	0.51817	0.69	5.3	-1.4	0.08968	.	0.796549	0.10585	N	0.657418	T	0.48352	0.1495	M	0.61703	1.905	0.35085	D	0.763804	P	0.48162	0.906	P	0.47402	0.546	T	0.61758	-0.6997	10	0.72032	D	0.01	.	8.6301	0.33915	0.0:0.4404:0.0:0.5596	.	494	Q9NVE4	CCD87_HUMAN	F	494	ENSP00000328487:V494F	ENSP00000328487:V494F	V	-	1	0	CCDC87	66115583	0.030000	0.19436	0.349000	0.25694	0.454000	0.32378	-0.499000	0.06413	-0.107000	0.12088	0.563000	0.77884	GTC		0.488	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		84	76	1	0	1.02218e-41	0.00361	1.94121e-41	84	76				
RBM14	10432	broad.mit.edu	37	11	66392833	66392833	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:66392833G>T	ENST00000310137.4	+	2	1625	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	496	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.G496C(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCGGCCACTGGCTCCTATGG	0.627																																							uc001oit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1486-1488)GGC>TGC		RNA binding motif protein 14							33.0	39.0	37.0					11																	66392833		2199	4289	6488	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392833G>T	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1486G>T	11.37:g.66392833G>T	ENSP00000311747:p.Gly496Cys					RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.G496C	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	1625	+			496			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1486G>T	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098412	0.37048	.	.	ENSG00000239306	ENST00000310137	D	0.83163	-1.69	5.75	5.75	0.90469	.	0.121332	0.56097	D	0.000030	D	0.85004	0.5598	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86744	0.1956	10	0.72032	D	0.01	-6.9293	15.4418	0.75190	0.0:0.0:1.0:0.0	.	496	Q96PK6	RBM14_HUMAN	C	496	ENSP00000311747:G496C	ENSP00000311747:G496C	G	+	1	0	RBM14	66149409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.343000	0.65976	2.720000	0.93068	0.655000	0.94253	GGC		0.627	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		87	42	1	0	5.86298e-51	0.00361	1.12028e-50	87	42				
MRGPRF	116535	broad.mit.edu	37	11	68773568	68773568	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:68773568G>C	ENST00000309099.6	-	3	592	c.210C>G	c.(208-210)ggC>ggG	p.G70G	MRGPRF_ENST00000441623.1_Silent_p.G70G|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	70						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G70G(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGATGGAGAAGCCGAAAAACC	0.592																																							uc001ooo.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GGC>GGG		MAS-related GPR, member F							38.0	45.0	43.0					11																	68773568		2200	4294	6494	SO:0001819	synonymous_variant	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773568G>C	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.210C>G	11.37:g.68773568G>C						MRGPRF_uc001oop.3_Silent_p.G70G	p.G70G	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	577	-			70			Cytoplasmic (Potential).		B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	c.210C>G	CCDS8188.1																																																																																				0.592	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		7	24	0	0	0	0.001984	0	7	24				
FOLR3	2352	broad.mit.edu	37	11	71850763	71850763	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:71850763G>A	ENST00000445078.2	+	5	817	c.746G>A	c.(745-747)tGc>tAc	p.C249Y	FOLR3_ENST00000442948.2_Missense_Mutation_p.C208Y|FOLR3_ENST00000456237.1_Missense_Mutation_p.C251Y			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	207					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.C251Y(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGCGGCCGCTGCATCCAGATG	0.592																																							uc001ory.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(751-753)TGC>TAC		SubName: Full=FOLR3 protein; Flags: Fragment;	Folic Acid(DB00158)						40.0	42.0	41.0					11																	71850763		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850763G>A	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.746G>A	11.37:g.71850763G>A	ENSP00000390338:p.Cys249Tyr					FOLR3_uc001orx.1_Missense_Mutation_p.C209Y	p.C251Y			P41439	FOLR3_HUMAN			5	802	+			207					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	N	17.79	3.475665	0.63737	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	D;D;D	0.91124	-2.79;-2.79;-2.79	2.79	2.79	0.32731	Folate receptor-like (1);	0.000000	0.64402	U	0.000001	D	0.94142	0.8121	.	.	.	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.93656	0.6977	8	.	.	.	.	11.3148	0.49386	0.0:0.0:1.0:0.0	.	251;207	E9PGT2;P41439	.;FOLR3_HUMAN	Y	249;251;208	ENSP00000390338:C249Y;ENSP00000399235:C251Y;ENSP00000411161:C208Y	.	C	+	2	0	FOLR3	71528411	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.259000	0.65485	1.547000	0.49401	0.467000	0.42956	TGC		0.592	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		30	14	0	0	0	0.003271	0	30	14				
CHORDC1	26973	broad.mit.edu	37	11	89944475	89944475	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:89944475G>C	ENST00000320585.6	-	5	750	c.341C>G	c.(340-342)cCa>cGa	p.P114R	CHORDC1_ENST00000529726.1_5'Flank|CHORDC1_ENST00000457199.2_Missense_Mutation_p.P95R|CHORDC1_ENST00000529987.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	114	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.P114R(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ATTTGTCATTGGTTCATCTGG	0.299																																							uc001pdg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(340-342)CCA>CGA		cysteine and histidine-rich domain-containing							94.0	102.0	99.0					11																	89944475		2201	4288	6489	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89944475G>C	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.341C>G	11.37:g.89944475G>C	ENSP00000319255:p.Pro114Arg					CHORDC1_uc009yvz.2_Missense_Mutation_p.P95R	p.P114R	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN			5	751	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	114			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.341C>G	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035243	0.75617	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	T;T	0.45276	0.92;0.9	5.92	5.0	0.66597	.	0.049773	0.85682	D	0.000000	T	0.67571	0.2907	M	0.86028	2.79	0.80722	D	1	D;D	0.65815	0.995;0.982	D;P	0.66847	0.947;0.885	T	0.73202	-0.4057	9	.	.	.	0.4054	16.4911	0.84201	0.0:0.0:0.8678:0.1322	.	95;114	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	R	114;95	ENSP00000319255:P114R;ENSP00000401080:P95R	.	P	-	2	0	CHORDC1	89584123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.980000	0.88113	1.502000	0.48669	0.580000	0.79431	CCA		0.299	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		64	38	0	0	0	0.00361	0	64	38				
ATM	472	broad.mit.edu	37	11	108137952	108137952	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:108137952G>T	ENST00000452508.2	+	18	2710	c.2521G>T	c.(2521-2523)Gat>Tat	p.D841Y	ATM_ENST00000278616.4_Missense_Mutation_p.D841Y|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	841					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D841Y(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AATGGAAGATGATACTAATGG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CD982453	ATM	D		c.(2521-2523)GAT>TAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							128.0	113.0	118.0					11																	108137952		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108137952G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2521G>T	11.37:g.108137952G>T	ENSP00000388058:p.Asp841Tyr	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.D841Y|ATM_uc009yxs.1_5'Flank	p.D841Y	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	17	2906	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	841					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.2521G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039517	0.35989	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.03468	3.92;4.35;4.35	5.03	4.12	0.48240	Armadillo-type fold (1);	0.459701	0.23614	N	0.046302	T	0.10423	0.0255	M	0.69823	2.125	0.09310	N	0.999999	P	0.42785	0.79	P	0.48552	0.581	T	0.02269	-1.1185	10	0.72032	D	0.01	.	12.9975	0.58654	0.0794:0.0:0.9206:0.0	.	841	Q13315	ATM_HUMAN	Y	841	ENSP00000435747:D841Y;ENSP00000278616:D841Y;ENSP00000388058:D841Y	ENSP00000278616:D841Y	D	+	1	0	ATM	107643162	1.000000	0.71417	0.004000	0.12327	0.009000	0.06853	5.044000	0.64214	1.103000	0.41568	0.591000	0.81541	GAT		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		22	19	1	0	8.10497e-08	0.010504	1.01886e-07	22	19				
C11orf52	91894	broad.mit.edu	37	11	111796798	111796798	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:111796798G>A	ENST00000278601.5	+	4	343	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RNA5SP351_ENST00000459480.1_RNA|DIXDC1_ENST00000529225.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_3'UTR|CRYAB_ENST00000527950.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	83						extracellular vesicular exosome (GO:0070062)		p.V83M(1)		lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TGACATTCAAGTGTGCAGCCG	0.527																																							uc001pmh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)GTG>ATG		hypothetical protein LOC91894							124.0	90.0	102.0					11																	111796798		2201	4297	6498	SO:0001583	missense	91894							g.chr11:111796798G>A	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.247G>A	11.37:g.111796798G>A	ENSP00000278601:p.Val83Met					C11orf52_uc001pmi.2_Missense_Mutation_p.V83M	p.V83M	NM_080659	NP_542390	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	5	730	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	83						Missense_Mutation	SNP	ENST00000278601.5	37	c.247G>A	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253518	0.59212	.	.	ENSG00000149300	ENST00000278601	T	0.55052	0.54	4.72	0.652	0.17823	.	0.279156	0.25657	N	0.029174	T	0.48926	0.1527	L	0.29908	0.895	0.27000	N	0.964938	D	0.53619	0.961	P	0.54060	0.741	T	0.48246	-0.9052	10	0.72032	D	0.01	-2.3853	10.105	0.42528	0.0:0.4535:0.4054:0.1411	.	83	Q96A22	CK052_HUMAN	M	83	ENSP00000278601:V83M	ENSP00000278601:V83M	V	+	1	0	C11orf52	111302008	1.000000	0.71417	0.850000	0.33497	0.793000	0.44817	1.925000	0.40074	-0.029000	0.13827	-0.311000	0.09066	GTG		0.527	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		19	12	0	0	0	0.012319	0	19	12				
HTR3A	3359	broad.mit.edu	37	11	113853842	113853842	+	Splice_Site	SNP	C	C	A	rs539631256		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:113853842C>A	ENST00000504030.2	+	5	820	c.375C>A	c.(373-375)ttC>ttA	p.F125L	HTR3A_ENST00000506841.2_Splice_Site_p.F125L|HTR3A_ENST00000535865.1_De_novo_Start_OutOfFrame|HTR3A_ENST00000299961.5_Splice_Site_p.F110L|HTR3A_ENST00000375498.2_Splice_Site_p.F131L|HTR3A_ENST00000355556.2_Splice_Site_p.F131L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	125				F -> L (in Ref. 2; AAB37533). {ECO:0000305}.	cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.F125L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCCCGCCAGCGTGGATGTGG	0.547																																							uc010rxb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>TTA		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						88.0	80.0	83.0					11																	113853842		2201	4296	6497	SO:0001630	splice_region_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853842C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.375-1C>A	11.37:g.113853842C>A						HTR3A_uc010rxa.1_Missense_Mutation_p.F131L|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.F110L	p.F131L	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	5	626	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	125	F -> L (in Ref. 2; AAB37533).		Extracellular (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.393C>A		.	.	.	.	.	.	.	.	.	.	c	13.31	2.199962	0.38905	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.39	-7.69	0.01263	.	0.047728	0.85682	D	0.000000	T	0.65123	0.2661	L	0.37561	1.115	0.80722	D	1	B;B;B	0.22909	0.002;0.077;0.006	B;B;B	0.27500	0.017;0.08;0.028	T	0.35051	-0.9804	9	.	.	.	.	19.8857	0.96911	0.0:0.5706:0.0:0.4294	.	110;131;131	B4DSY6;G5E986;Q7KZM7	.;.;.	L	125;131;131;125;110	ENSP00000424189:F125L;ENSP00000347754:F131L;ENSP00000364648:F131L;ENSP00000424776:F125L;ENSP00000299961:F110L	.	F	+	3	2	HTR3A	113359052	0.003000	0.15002	0.683000	0.30040	0.703000	0.40648	-1.263000	0.02850	-1.813000	0.01226	-2.410000	0.00221	TTC		0.547	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	Missense_Mutation	48	42	1	0	1.39843e-22	0.00361	2.39896e-22	48	42				
KMT2A	4297	broad.mit.edu	37	11	118390412	118390412	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:118390412C>G	ENST00000389506.5	+	32	11217	c.11217C>G	c.(11215-11217)caC>caG	p.H3739Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.H3742Q|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.H3701Q|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3739	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.H3739Q(1)|p.H3742Q(1)									GTGCCAAGCACTGTCGAAATT	0.522																																							uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11215-11217)CAC>CAG		myeloid/lymphoid or mixed-lineage leukemia							178.0	159.0	166.0					11																	118390412		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118390412C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11217C>G	11.37:g.118390412C>G	ENSP00000374157:p.His3739Gln					MLL_uc001ptb.2_Missense_Mutation_p.H3742Q	p.H3739Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	32	11240	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3739			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11217C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936731	0.52972	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.39592	1.07;1.07;1.07	5.82	3.64	0.41730	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.36672	1.1	0.43175	D	0.994983	D;D	0.61080	0.989;0.989	P;P	0.61003	0.882;0.882	T	0.37197	-0.9716	10	0.40728	T	0.16	.	9.1842	0.37160	0.0:0.7277:0.1243:0.148	.	3742;3739	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3742;3739;3701;2649	ENSP00000436786:H3742Q;ENSP00000374157:H3739Q;ENSP00000346516:H3701Q	ENSP00000346516:H3701Q	H	+	3	2	MLL	117895622	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.930000	0.40124	1.466000	0.48025	0.563000	0.77884	CAC		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		70	47	0	0	0	0.00361	0	70	47				
HINFP	25988	broad.mit.edu	37	11	119005060	119005060	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:119005060A>T	ENST00000350777.2	+	10	1469	c.1406A>T	c.(1405-1407)cAg>cTg	p.Q469L		NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	469	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.Q469L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTGAATCAGACCAATGCC	0.597											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pvp.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1405-1407)CAG>CTG		MBD2 (methyl-CpG-binding protein)-interacting							107.0	100.0	103.0					11																	119005060		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119005060A>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1406A>T	11.37:g.119005060A>T	ENSP00000318085:p.Gln469Leu		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_uc001pvq.2_Missense_Mutation_p.Q469L|HINFP_uc001pvr.2_Missense_Mutation_p.Q222L	p.Q469L	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			11	1595	+			469			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1406A>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125974	0.56721	.	.	ENSG00000172273	ENST00000350777	T	0.08370	3.1	5.13	3.98	0.46160	.	0.302784	0.28376	N	0.015567	T	0.06096	0.0158	L	0.36672	1.1	0.80722	D	1	B	0.30482	0.281	B	0.27796	0.083	T	0.28396	-1.0045	10	0.46703	T	0.11	-27.3273	4.035	0.09725	0.8011:0.0:0.1989:0.0	.	469	Q9BQA5	HINFP_HUMAN	L	469	ENSP00000318085:Q469L	ENSP00000318085:Q469L	Q	+	2	0	HINFP	118510270	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.517000	0.53443	2.163000	0.67991	0.533000	0.62120	CAG		0.597	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		24	21	0	0	0	0.007291	0	24	21				
OR10G9	219870	broad.mit.edu	37	11	123894507	123894507	+	Missense_Mutation	SNP	C	C	T	rs148745928		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:123894507C>T	ENST00000375024.1	+	1	788	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S263F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGACCAGGCTCCAGGGACGTC	0.517																																							uc010sad.1		NA																	2	Substitution - Missense(2)	p.S263F(1)	lung(1)|skin(1)	skin(2)	2						c.(787-789)TCC>TTC		olfactory receptor, family 10, subfamily G,							150.0	138.0	142.0					11																	123894507		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894507C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.788C>T	11.37:g.123894507C>T	ENSP00000364164:p.Ser263Phe						p.S263F	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	788	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	263			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.788C>T	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317033	0.23908	.	.	ENSG00000236981	ENST00000375024	T	0.00267	8.38	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000698	T	0.00580	0.0019	M	0.88310	2.945	0.31439	N	0.67223	D	0.89917	1.0	D	0.97110	1.0	T	0.11891	-1.0569	10	0.62326	D	0.03	.	8.1678	0.31237	0.0:0.8831:0.0:0.1169	.	263	Q8NGN4	O10G9_HUMAN	F	263	ENSP00000364164:S263F	ENSP00000364164:S263F	S	+	2	0	OR10G9	123399717	0.001000	0.12720	0.922000	0.36590	0.041000	0.13682	0.582000	0.23834	1.889000	0.54706	0.591000	0.81541	TCC		0.517	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		11	126	0	0	0	0.00245	0	11	126				
ERC1	23085	broad.mit.edu	37	12	1399138	1399138	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:1399138G>C	ENST00000397203.2	+	15	3146	c.2740G>C	c.(2740-2742)Gca>Cca	p.A914P	ERC1_ENST00000543086.3_Missense_Mutation_p.A886P|ERC1_ENST00000355446.5_Missense_Mutation_p.A914P|ERC1_ENST00000360905.4_Missense_Mutation_p.A914P|ERC1_ENST00000589028.1_Missense_Mutation_p.A914P|ERC1_ENST00000546231.2_Missense_Mutation_p.A918P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	914					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.A914P(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TAATCTTCGGGCAGAGAGAAG	0.428																																							uc001qjb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2740-2742)GCA>CCA		RAB6-interacting protein 2 isoform epsilon							128.0	121.0	123.0					12																	1399138		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1399138G>C	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2740G>C	12.37:g.1399138G>C	ENSP00000380386:p.Ala914Pro					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.A886P|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.A914P|ERC1_uc010sdv.1_Missense_Mutation_p.A622P|ERC1_uc001qje.2_RNA	p.A914P	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		15	2981	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		914			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.2740G>C	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403413	0.83230	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.52754	0.72;0.72;0.72;0.65;0.72;0.72;0.72;0.72	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.61703	1.905	0.80722	D	1	P;D;D;D	0.89917	0.951;1.0;1.0;0.997	P;D;D;D	0.91635	0.786;0.999;0.999;0.943	T	0.62272	-0.6889	10	0.33141	T	0.24	-14.3169	19.7863	0.96440	0.0:0.0:1.0:0.0	.	622;890;886;914	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	P	846;914;890;846;618;886;890;618;914;914;914;890;622	ENSP00000340054:A846P;ENSP00000380386:A914P;ENSP00000438546:A886P;ENSP00000445336:A890P;ENSP00000442976:A618P;ENSP00000347621:A914P;ENSP00000354158:A914P;ENSP00000410064:A890P	ENSP00000299183:A618P	A	+	1	0	ERC1	1269399	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.989000	0.88205	2.665000	0.90641	0.655000	0.94253	GCA		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		14	95	0	0	0	0.004007	0	14	95				
CACNA2D4	93589	broad.mit.edu	37	12	1994018	1994018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:1994018G>T	ENST00000382722.5	-	11	1550	c.1188C>A	c.(1186-1188)tgC>tgA	p.C396*	CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.C312*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.C396*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.C332*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.C332*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.C396*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	396	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.C396*(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGCCTGGTTGCAGAGGCTTC	0.612																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1186-1188)TGC>TGA		voltage-gated calcium channel alpha(2)delta-4							47.0	53.0	51.0					12																	1994018		2082	4209	6291	SO:0001587	stop_gained	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1994018G>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1188C>A	12.37:g.1994018G>T	ENSP00000372169:p.Cys396*					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.C315*	p.C396*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	11	1419	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	396			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	ENST00000382722.5	37	c.1188C>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	38	7.243432	0.98161	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.4	1.91	0.25777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5289	0.33321	0.4202:0.0:0.5798:0.0	.	.	.	.	X	332;396;396	.	ENSP00000280663:C396X	C	-	3	2	CACNA2D4	1864279	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.392000	0.44433	0.574000	0.29417	0.511000	0.50034	TGC		0.612	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			29	8	1	0	1.50538e-07	0.00632	1.85853e-07	29	8				
CACNA1C	775	broad.mit.edu	37	12	2794913	2794913	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:2794913A>T	ENST00000347598.4	+	46	5729	c.5729A>T	c.(5728-5730)cAg>cTg	p.Q1910L	CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1881L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1862L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1882L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1890L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1870L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1868L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1881L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1862L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1903L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1897L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1881L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1887L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1933L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1879L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1945					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q1897L(1)|p.Q1397L(1)|p.Q1903L(1)|p.Q1910L(1)|p.Q1975L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTCCTACCAGGATGACGAA	0.582																																							uc009zdu.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(5833-5835)CAG>CTG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						43.0	44.0	44.0					12																	2794913		2002	4161	6163	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2794913A>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5729A>T	12.37:g.2794913A>T	ENSP00000266376:p.Gln1910Leu					CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1859L|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1851L|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1870L|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1868L|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1903L|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1870L|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1910L|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1882L|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1879L|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1897L|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1890L|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1862L|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1881L|CACNA1C_uc001qki.1_Missense_Mutation_p.Q1669L|CACNA1C_uc001qkj.1_Missense_Mutation_p.Q1633L|CACNA1C_uc001qkk.1_Missense_Mutation_p.Q1598L|CACNA1C_uc001qkm.1_Missense_Mutation_p.Q1658L|CACNA1C_uc010sea.1_Missense_Mutation_p.Q553L|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.Q180L	p.Q1945L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	47	6147	+			1945			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5834A>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493912	0.26774	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.26	3.12	0.35913	.	2.159060	0.02642	N	0.105425	T	0.44603	0.1301	L	0.47716	1.5	0.26018	N	0.981906	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31625	0.0;0.051;0.152;0.004;0.029;0.029;0.185;0.099;0.03;0.0;0.332;0.152;0.007;0.057;0.094;0.01;0.007;0.0;0.332;0.005;0.152;0.218;0.029;0.152;0.152	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.33620	0.001;0.046;0.058;0.007;0.068;0.046;0.079;0.046;0.038;0.002;0.117;0.058;0.01;0.046;0.039;0.021;0.01;0.002;0.167;0.029;0.058;0.167;0.046;0.058;0.058	T	0.26538	-1.0100	10	0.25106	T	0.35	.	7.236	0.26070	0.8248:0.0:0.1752:0.0	.	553;1903;1859;1945;1897;1881;1862;1879;1890;1862;1882;1862;1893;1910;1862;1897;1933;1870;1868;1870;1851;1881;1881;1862;1862	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	1887;1862;1862;1890;1862;1881;1881;1870;1862;1910;1882;1862;1903;1879;1897;1868;1881;1862;1933;1897;1933;1870;1763	ENSP00000336982:Q1887L;ENSP00000382563:Q1862L;ENSP00000382552:Q1862L;ENSP00000382547:Q1890L;ENSP00000382506:Q1862L;ENSP00000382530:Q1881L;ENSP00000382546:Q1881L;ENSP00000382500:Q1870L;ENSP00000382549:Q1862L;ENSP00000266376:Q1910L;ENSP00000382515:Q1882L;ENSP00000382510:Q1862L;ENSP00000341092:Q1903L;ENSP00000382537:Q1879L;ENSP00000329877:Q1897L;ENSP00000382557:Q1868L;ENSP00000385724:Q1881L;ENSP00000382512:Q1862L;ENSP00000382542:Q1933L;ENSP00000382526:Q1897L;ENSP00000385896:Q1933L;ENSP00000382504:Q1870L	ENSP00000323129:Q1763L	Q	+	2	0	CACNA1C	2665174	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	4.067000	0.57527	0.683000	0.31428	0.369000	0.22263	CAG		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		31	18	0	0	0	0.009535	0	31	18				
AKAP3	10566	broad.mit.edu	37	12	4736526	4736526	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:4736526C>A	ENST00000545990.2	-	5	2066	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.E514D	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	514					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.E514D(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ACATAAAATTCTCAGGTTTCT	0.502																																							uc001qnb.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1540-1542)GAG>GAT		A-kinase anchor protein 3							55.0	54.0	54.0					12																	4736526		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736526C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1542G>T	12.37:g.4736526C>A	ENSP00000440994:p.Glu514Asp						p.E514D	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1771	-			514					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1542G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	6.170	0.399466	0.11696	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.12984	2.63;2.63	5.23	0.942	0.19525	A-kinase anchor 110kDa, C-terminal (1);	0.291871	0.29624	N	0.011628	T	0.11707	0.0285	L	0.52126	1.63	0.09310	N	1	B	0.11235	0.004	B	0.17722	0.019	T	0.20174	-1.0283	10	0.46703	T	0.11	-19.7212	6.7211	0.23330	0.0:0.4601:0.3616:0.1783	.	514	O75969	AKAP3_HUMAN	D	514	ENSP00000228850:E514D;ENSP00000440994:E514D	ENSP00000228850:E514D	E	-	3	2	AKAP3	4606787	0.259000	0.24043	0.904000	0.35570	0.281000	0.26958	-0.214000	0.09292	0.262000	0.21774	0.655000	0.94253	GAG		0.502	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		16	32	1	0	2.32078e-09	0.003163	3.05341e-09	16	32				
KCNA5	3741	broad.mit.edu	37	12	5154280	5154280	+	Missense_Mutation	SNP	C	C	A	rs376977376		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:5154280C>A	ENST00000252321.3	+	1	1196	c.967C>A	c.(967-969)Ccc>Acc	p.P323T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	323					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.P323T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCTGGCCGACCCCTTCTTCAT	0.697																																							uc001qni.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(967-969)CCC>ACC		potassium voltage-gated channel, shaker-related		C	THR/PRO	1,4405	2.1+/-5.4	0,1,2202	65.0	63.0	64.0		967	4.8	1.0	12		64	0,8600		0,0,4300	no	missense	KCNA5	NM_002234.2	38	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	323/614	5154280	1,13005	2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154280C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.967C>A	12.37:g.5154280C>A	ENSP00000252321:p.Pro323Thr						p.P323T	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1196	+			323					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.967C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823864	0.71143	2.27E-4	0.0	ENSG00000130037	ENST00000252321	D	0.97352	-4.35	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.92459	3.31	0.80722	D	1	P	0.42584	0.784	B	0.43155	0.41	D	0.99616	1.0982	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	323	P22460	KCNA5_HUMAN	T	323	ENSP00000252321:P323T	ENSP00000252321:P323T	P	+	1	0	KCNA5	5024541	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.589000	0.82641	2.478000	0.83669	0.561000	0.74099	CCC		0.697	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		23	105	1	0	1.22574e-08	0.002299	1.58911e-08	23	105				
DDX12P	440081	broad.mit.edu	37	12	9574030	9574030	+	IGR	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:9574030T>G								RP13-735L24.1 (23817 upstream) : SNORA75 (23623 downstream)														p.N669T(2)									TAGCGGCTGGTTGGAGACCCC	0.597																																							uc010sgs.1		NA																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)		0						c.(2005-2007)AAC>ACC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							58.0	60.0	59.0					12																	9574030		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9574030T>G																													12.37:g.9574030T>G						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.N669T	NM_004400	NP_004391					20	2201	-									Missense_Mutation	SNP		37	c.2006A>C																																																																																				0	0.597									8	90	0	0	0	0.003163	0	8	90				
GRIN2B	2904	broad.mit.edu	37	12	13906583	13906583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:13906583G>T	ENST00000609686.1	-	3	887	c.678C>A	c.(676-678)ccC>ccA	p.P226P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	226					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P226P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGAATGATGGGGCTTTGAA	0.507																																							uc001rbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(676-678)CCC>CCA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						151.0	150.0	150.0					12																	13906583		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906583G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.678C>A	12.37:g.13906583G>T							p.P226P	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	857	-			226			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.678C>A	CCDS8662.1																																																																																				0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			116	49	1	0	1.90269e-63	0.00361	3.66948e-63	116	49				
GUCY2C	2984	broad.mit.edu	37	12	14804340	14804340	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:14804340C>A	ENST00000261170.3	-	15	1847		c.e15+1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.?(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGGTTTCTTACCCGGAGGGAT	0.368																																							uc001rcd.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)	6						c.e15+1		guanylate cyclase 2C precursor							84.0	79.0	81.0					12																	14804340		2203	4300	6503	SO:0001630	splice_region_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804340C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1710+1G>T	12.37:g.14804340C>A							p.R570_splice	NM_004963	NP_004954	P25092	GUC2C_HUMAN			15	1847	-								B2RMY6	Splice_Site	SNP	ENST00000261170.3	37	c.1710_splice	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744792	0.69418	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.55	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2587	0.82530	0.0:0.8672:0.1328:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GUCY2C	14695607	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.710000	0.68392	1.295000	0.44724	0.655000	0.94253	.		0.368	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		Intron	13	91	1	0	1.5842e-08	0.001855	2.04105e-08	13	91				
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	rs121913240		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:25380276T>A	ENST00000256078.4	-	3	245	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61L	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	Q61R(PANC0213_PANCREAS)|Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		141	Substitution - Missense(141)	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(181-183)CAA>CTA		c-K-ras2 protein isoform a precursor							109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>T	12.37:g.25380276T>A	ENSP00000256078:p.Gln61Leu	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.Q61L	p.Q61L	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	363	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> R (in a colorectal cancer sample; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889058	0.91814	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83992	-1.79;-1.79	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.92097	0.7495	H	0.96333	3.805	0.80722	D	1	D;P	0.58970	0.984;0.812	P;P	0.53689	0.732;0.69	D	0.94295	0.7532	10	0.72032	D	0.01	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	L	61	ENSP00000308495:Q61L;ENSP00000256078:Q61L	ENSP00000256078:Q61L	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		84	23	0	0	0	0.00361	0	84	23				
OVCH1	341350	broad.mit.edu	37	12	29617627	29617627	+	Silent	SNP	C	C	T	rs529800856		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:29617627C>T	ENST00000318184.5	-	18	1937	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	646	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R646R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGTGTTTGGCCCTTCTCACCT	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19458	0.0		0.0	False		,,,				2504	0.0						uc001rix.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1936-1938)AGG>AGA		ovochymase 1 precursor							123.0	122.0	122.0					12																	29617627		1945	4139	6084	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29617627C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1938G>A	12.37:g.29617627C>T							p.R646R	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			18	1938	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		646			Peptidase S1 2.			Silent	SNP	ENST00000318184.5	37	c.1938G>A																																																																																					0.403	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		72	24	0	0	0	0.00361	0	72	24				
RAPGEF3	10411	broad.mit.edu	37	12	48134736	48134736	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:48134736T>A	ENST00000449771.2	-	20	2099	c.2011A>T	c.(2011-2013)Acg>Tcg	p.T671S	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.T629S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.T671S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.T629S|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.T580S|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.T629S|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	671	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.T629S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCGTGGTCCGTCAGCTGGCCT	0.682																																							uc009zkp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)|pancreas(1)	4						c.(1885-1887)ACG>TCG		Rap guanine nucleotide exchange factor 3 isoform							35.0	31.0	33.0					12																	48134736		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134736T>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2011A>T	12.37:g.48134736T>A	ENSP00000395708:p.Thr671Ser					uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_5'UTR|RAPGEF3_uc001rpx.2_Missense_Mutation_p.T86S|RAPGEF3_uc010sln.1_Missense_Mutation_p.T144S|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.T629S|RAPGEF3_uc001rpz.3_Missense_Mutation_p.T671S	p.T629S	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	19	2325	-	Lung SC(27;0.192)		629					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.1885A>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849331	0.71603	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	3.82	3.82	0.43975	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.069276	0.56097	D	0.000023	T	0.65354	0.2683	M	0.76433	2.335	0.54753	D	0.999986	D	0.58620	0.983	D	0.68765	0.96	T	0.69480	-0.5134	10	0.72032	D	0.01	.	11.7446	0.51813	0.0:0.0:0.0:1.0	.	671	O95398	RPGF3_HUMAN	S	629;671;318;629;629;629;671;634;580	ENSP00000384521:T629S;ENSP00000395708:T671S;ENSP00000448619:T629S;ENSP00000171000:T629S;ENSP00000373864:T671S;ENSP00000448480:T580S	ENSP00000171000:T629S	T	-	1	0	RAPGEF3	46421003	1.000000	0.71417	0.852000	0.33557	0.626000	0.37791	7.493000	0.81493	1.525000	0.49052	0.459000	0.35465	ACG		0.682	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		9	10	0	0	0	0.006214	0	9	10				
KRT1	3848	broad.mit.edu	37	12	53071971	53071971	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:53071971C>T	ENST00000252244.3	-	3	901	c.843G>A	c.(841-843)gaG>gaA	p.E281E		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	281	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E281E(1)|p.E281D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CAAATTCATTCTCTGCATTTG	0.403																																							uc001sau.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(841-843)GAG>GAA		keratin 1							156.0	125.0	135.0					12																	53071971		2203	4300	6503	SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53071971C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.843G>A	12.37:g.53071971C>T						KRT1_uc001sav.1_Silent_p.E281E	p.E281E	NM_006121	NP_006112	P04264	K2C1_HUMAN			3	902	-			281			Coil 1B.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.843G>A	CCDS8836.1																																																																																				0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		27	11	0	0	0	0.002836	0	27	11				
OR6C75	390323	broad.mit.edu	37	12	55759343	55759343	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:55759343G>T	ENST00000343399.3	+	1	449	c.449G>T	c.(448-450)gGg>gTg	p.G150V		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G150V(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTTGCAGGGTTTCTGATC	0.453																																							uc010spk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(448-450)GGG>GTG		olfactory receptor, family 6, subfamily C,							169.0	136.0	148.0					12																	55759343		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759343G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.449G>T	12.37:g.55759343G>T	ENSP00000368987:p.Gly150Val						p.G150V	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	449	+			150			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.449G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	15.67	2.900969	0.52227	.	.	ENSG00000187857	ENST00000343399	T	0.39056	1.1	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.304027	0.22853	N	0.054831	T	0.71022	0.3291	M	0.91768	3.24	0.50813	D	0.99989	D	0.71674	0.998	D	0.74023	0.982	T	0.79438	-0.1803	10	0.87932	D	0	.	15.385	0.74691	0.0:0.14:0.86:0.0	.	150	A6NL08	O6C75_HUMAN	V	150	ENSP00000368987:G150V	ENSP00000368987:G150V	G	+	2	0	OR6C75	54045610	0.983000	0.35010	0.878000	0.34440	0.750000	0.42670	1.965000	0.40471	1.380000	0.46344	0.632000	0.83419	GGG		0.453	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			30	5	1	0	1.50538e-07	0.00632	1.85853e-07	30	5				
OR6C2	341416	broad.mit.edu	37	12	55846340	55846340	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:55846340G>T	ENST00000322678.1	+	1	343	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	115					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A115S(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCTCTTGGCAGCCATGTCCTA	0.413																																							uc001sgz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(343-345)GCC>TCC		olfactory receptor, family 6, subfamily C,							137.0	128.0	131.0					12																	55846340		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846340G>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.343G>T	12.37:g.55846340G>T	ENSP00000323606:p.Ala115Ser						p.A115S	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	343	+			115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.343G>T	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138534	0.21123	.	.	ENSG00000179695	ENST00000322678	T	0.03065	4.06	5.42	-0.785	0.10950	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.04679	0.0127	L	0.58969	1.84	0.09310	N	1	B	0.28850	0.225	B	0.28232	0.087	T	0.29941	-0.9995	10	0.49607	T	0.09	.	10.6852	0.45839	0.5261:0.0:0.4739:0.0	.	115	Q9NZP2	OR6C2_HUMAN	S	115	ENSP00000323606:A115S	ENSP00000323606:A115S	A	+	1	0	OR6C2	54132607	0.000000	0.05858	0.049000	0.19019	0.301000	0.27625	0.032000	0.13732	-0.045000	0.13468	-0.165000	0.13383	GCC		0.413	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		94	37	1	0	8.47766e-36	0.00361	1.57623e-35	94	37				
ACACB	32	broad.mit.edu	37	12	109609686	109609686	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109609686G>T	ENST00000338432.7	+	5	1121	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	ACACB_ENST00000377848.3_Silent_p.L334L|ACACB_ENST00000377854.5_Silent_p.L334L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	334	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L334L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACGTGGAGCTGATTGTGGACA	0.527																																							uc001tob.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1000-1002)CTG>CTT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						161.0	131.0	141.0					12																	109609686		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109609686G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1002G>T	12.37:g.109609686G>T						ACACB_uc001toc.2_Silent_p.L334L	p.L334L	NM_001093	NP_001084	O00763	ACACB_HUMAN			5	1121	+			334			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1002G>T	CCDS31898.1																																																																																				0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		25	6	1	0	1.16021e-09	0.007291	1.5297e-09	25	6				
ACACB	32	broad.mit.edu	37	12	109680290	109680290	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109680290C>T	ENST00000338432.7	+	37	5190	c.5071C>T	c.(5071-5073)Ctg>Ttg	p.L1691L	ACACB_ENST00000377848.3_Silent_p.L1691L|ACACB_ENST00000377854.5_Silent_p.L1621L|ACACB_ENST00000543201.1_Silent_p.L357L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1691					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L1691L(1)|p.L357L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCACGGGATGCTGATCAATAC	0.532																																							uc001tob.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5071-5073)CTG>TTG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						114.0	106.0	108.0					12																	109680290		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109680290C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5071C>T	12.37:g.109680290C>T						ACACB_uc001toc.2_Silent_p.L1691L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L357L	p.L1691L	NM_001093	NP_001084	O00763	ACACB_HUMAN			37	5190	+			1691					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5071C>T	CCDS31898.1																																																																																				0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		3	74	0	0	0	0.004672	0	3	74				
ACACB	32	broad.mit.edu	37	12	109680382	109680382	+	Silent	SNP	G	G	T	rs369014502	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:109680382G>T	ENST00000338432.7	+	37	5282	c.5163G>T	c.(5161-5163)ccG>ccT	p.P1721P	ACACB_ENST00000377848.3_Silent_p.P1721P|ACACB_ENST00000377854.5_Silent_p.P1651P|ACACB_ENST00000543201.1_Silent_p.P387P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1721					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.P387P(1)|p.P1721P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATGACTTCCCGGAAATGTTCA	0.577																																							uc001tob.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5161-5163)CCG>CCT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						80.0	79.0	79.0					12																	109680382		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109680382G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5163G>T	12.37:g.109680382G>T						ACACB_uc001toc.2_Silent_p.P1721P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P387P	p.P1721P	NM_001093	NP_001084	O00763	ACACB_HUMAN			37	5282	+			1721					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5163G>T	CCDS31898.1																																																																																				0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		34	12	1	0	4.3181e-19	0.002836	7.11284e-19	34	12				
CUX2	23316	broad.mit.edu	37	12	111785649	111785649	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:111785649C>A	ENST00000261726.6	+	22	4135	c.3981C>A	c.(3979-3981)ccC>ccA	p.P1327P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1327	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.P1327P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCAAGGTCCCCCCAAAGAGG	0.622																																							uc001tsa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(3979-3981)CCC>CCA		cut-like 2							57.0	68.0	65.0					12																	111785649		2055	4179	6234	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785649C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3981C>A	12.37:g.111785649C>A							p.P1327P	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	4134	+			1327			Pro-rich.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3981C>A	CCDS41837.1																																																																																				0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	58	1	0	1.23904e-05	0.000602	1.41442e-05	5	58				
HECTD4	283450	broad.mit.edu	37	12	112622286	112622286	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:112622286C>A	ENST00000430131.2	-	60	10363	c.9218G>T	c.(9217-9219)tGc>tTc	p.C3073F	HECTD4_ENST00000550722.1_Missense_Mutation_p.C3349F|HECTD4_ENST00000377560.5_Missense_Mutation_p.C3323F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3073					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.C3323F(1)|p.C3073F(1)									CTGCGAGCTGCAGATGGAGGC	0.687																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(9217-9219)TGC>TTC		chromosome 12 open reading frame 51							27.0	35.0	32.0					12																	112622286		2192	4287	6479	SO:0001583	missense	283450							g.chr12:112622286C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9218G>T	12.37:g.112622286C>A	ENSP00000404379:p.Cys3073Phe						p.C3073F	NM_001109662	NP_001103132					54	9236	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9218G>T		.	.	.	.	.	.	.	.	.	.	C	15.16	2.750153	0.49257	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51071	0.73;0.73;0.72	5.82	5.82	0.92795	.	.	.	.	.	T	0.33876	0.0878	N	0.24115	0.695	0.54753	D	0.999983	P	0.41041	0.736	B	0.32465	0.146	T	0.33599	-0.9862	9	0.87932	D	0	.	16.3613	0.83269	0.0:0.8683:0.1317:0.0	.	3073	Q9Y4D8	K0614_HUMAN	F	3323;3073;3349	ENSP00000366783:C3323F;ENSP00000404379:C3073F;ENSP00000449784:C3349F	ENSP00000366783:C3323F	C	-	2	0	C12orf51	111106669	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.113000	0.57851	2.757000	0.94681	0.655000	0.94253	TGC		0.687	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	9	1	0	5.18039e-06	0.00308	6.02439e-06	7	9				
TMEM132B	114795	broad.mit.edu	37	12	126138981	126138981	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:126138981A>G	ENST00000299308.3	+	9	2970	c.2962A>G	c.(2962-2964)Agt>Ggt	p.S988G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S500G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	988						integral component of membrane (GO:0016021)		p.S988G(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTGAATGGCAGTTCCCAGAA	0.448																																							uc001uhe.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2962-2964)AGT>GGT		transmembrane protein 132B							55.0	52.0	53.0					12																	126138981		1876	4100	5976	SO:0001583	missense	114795					integral to membrane		g.chr12:126138981A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2962A>G	12.37:g.126138981A>G	ENSP00000299308:p.Ser988Gly					TMEM132B_uc001uhf.1_Missense_Mutation_p.S500G	p.S988G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2970	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		988			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2962A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	8.521	0.868717	0.17322	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.11821	3.55;2.74	5.81	-1.2	0.09554	.	0.183165	0.38005	N	0.001845	T	0.07052	0.0179	N	0.17764	0.52	0.31604	N	0.652329	B	0.10296	0.003	B	0.08055	0.003	T	0.39840	-0.9594	10	0.13470	T	0.59	.	11.0454	0.47855	0.5985:0.0:0.4015:0.0	.	988	Q14DG7	T132B_HUMAN	G	988;500	ENSP00000299308:S988G;ENSP00000440436:S500G	ENSP00000299308:S988G	S	+	1	0	TMEM132B	124704934	0.559000	0.26562	0.542000	0.28115	0.991000	0.79684	1.160000	0.31761	-0.443000	0.07180	0.533000	0.62120	AGT		0.448	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		18	4	0	0	0	0.006122	0	18	4				
GPR133	283383	broad.mit.edu	37	12	131487810	131487810	+	Silent	SNP	G	G	A	rs532956146		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:131487810G>A	ENST00000261654.5	+	10	1666	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	GPR133_ENST00000376682.4_Silent_p.T55T|GPR133_ENST00000535015.1_Silent_p.T401T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	369					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T369T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACGGCAGCACGCCCCAGGTCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19596	0.0		0.0	False		,,,				2504	0.0						uc001uit.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1105-1107)ACG>ACA		G protein-coupled receptor 133 precursor							106.0	87.0	93.0					12																	131487810		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487810G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1107G>A	12.37:g.131487810G>A						GPR133_uc010tbm.1_Silent_p.T401T	p.T369T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1666	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		369			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1107G>A	CCDS9272.1																																																																																				0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		55	18	0	0	0	0.00361	0	55	18				
LATS2	26524	broad.mit.edu	37	13	21549289	21549289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:21549289G>A	ENST00000382592.4	-	8	3392	c.2987C>T	c.(2986-2988)cCc>cTc	p.P996L	LATS2_ENST00000542899.1_Missense_Mutation_p.P996L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P996L(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTGTCCATGGGGTGGCTGAT	0.597																																							uc009zzs.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(2986-2988)CCC>CTC		LATS, large tumor suppressor, homolog 2							158.0	156.0	157.0					13																	21549289		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549289G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2987C>T	13.37:g.21549289G>A	ENSP00000372035:p.Pro996Leu					LATS2_uc001unr.3_Missense_Mutation_p.P996L	p.P996L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3352	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	996			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2987C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036956	0.93630	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.57436	0.4;0.4	5.96	5.96	0.96718	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.73345	0.3575	M	0.83223	2.63	0.80722	D	1	D	0.56035	0.974	P	0.57720	0.826	T	0.74526	-0.3636	10	0.54805	T	0.06	.	20.4082	0.99013	0.0:0.0:1.0:0.0	.	996	Q9NRM7	LATS2_HUMAN	L	996	ENSP00000372035:P996L;ENSP00000441817:P996L	ENSP00000372035:P996L	P	-	2	0	LATS2	20447289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.392000	0.97252	2.814000	0.96858	0.655000	0.94253	CCC		0.597	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			16	55	0	0	0	0.007413	0	16	55				
MTMR6	9107	broad.mit.edu	37	13	25840081	25840081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:25840081C>A	ENST00000381801.5	-	5	1228	c.467G>T	c.(466-468)tGt>tTt	p.C156F	MTMR6_ENST00000540661.1_Missense_Mutation_p.C156F	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	156	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.C156F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTAAGTTTCACAAATCTGTAA	0.353																																							uc001uqf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(466-468)TGT>TTT		myotubularin related protein 6							77.0	87.0	84.0					13																	25840081		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840081C>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.467G>T	13.37:g.25840081C>A	ENSP00000371221:p.Cys156Phe					MTMR6_uc001uqe.1_Missense_Mutation_p.C156F	p.C156F	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	5	786	-		Lung SC(185;0.0225)|Breast(139;0.0351)	156			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.467G>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538141	0.85917	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.96427	-4.01;-4.01	5.59	5.59	0.84812	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	D	0.99453	1.0941	10	0.87932	D	0	.	19.5935	0.95525	0.0:1.0:0.0:0.0	.	156;156	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	F	156	ENSP00000443161:C156F;ENSP00000371221:C156F	ENSP00000371221:C156F	C	-	2	0	MTMR6	24738081	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.770000	0.85390	2.647000	0.89833	0.555000	0.69702	TGT		0.353	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		16	60	1	0	3.52763e-06	0.00499	4.14113e-06	16	60				
FREM2	341640	broad.mit.edu	37	13	39430390	39430390	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:39430390G>T	ENST00000280481.7	+	12	7269	c.7053G>T	c.(7051-7053)atG>atT	p.M2351I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2351					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M2351I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAGCAGAGATGCAGGTAAGTA	0.398																																							uc001uwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7051-7053)ATG>ATT		FRAS1-related extracellular matrix protein 2							103.0	101.0	102.0					13																	39430390		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39430390G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7053G>T	13.37:g.39430390G>T	ENSP00000280481:p.Met2351Ile					FREM2_uc001uww.2_Missense_Mutation_p.M437I	p.M2351I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	12	7362	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2351			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7053G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.155893	0.01686	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	5.79	-11.6	0.00059	.	0.053780	0.64402	D	0.000001	T	0.02342	0.0072	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47315	-0.9127	10	0.12103	T	0.63	.	0.5914	0.00728	0.2133:0.2677:0.2388:0.2802	.	2351;2351	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	I	2351	ENSP00000280481:M2351I	ENSP00000280481:M2351I	M	+	3	0	FREM2	38328390	0.000000	0.05858	0.053000	0.19242	0.506000	0.33950	-2.761000	0.00786	-4.138000	0.00070	-2.653000	0.00148	ATG		0.398	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		8	33	1	0	0.00448238	0.004482	0.00470991	8	33				
NHLRC3	387921	broad.mit.edu	37	13	39621177	39621177	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:39621177G>T	ENST00000379600.3	+	6	1001	c.679G>T	c.(679-681)Gtg>Ttg	p.V227L	NHLRC3_ENST00000470258.1_Splice_Site_p.V30L|NHLRC3_ENST00000379599.2_Splice_Site_p.V160L	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	227						extracellular vesicular exosome (GO:0070062)		p.V227L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TGTTTCTCAGGTGTGGGTTGC	0.358																																							uc001uxc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(679-681)GTG>TTG		NHL repeat containing 3 isoform a							103.0	105.0	104.0					13																	39621177		2203	4300	6503	SO:0001630	splice_region_variant	387921					extracellular region		g.chr13:39621177G>T		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.679-1G>T	13.37:g.39621177G>T						NHLRC3_uc001uxd.2_Missense_Mutation_p.V160L|NHLRC3_uc001uxe.2_Missense_Mutation_p.V30L	p.V227L	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	6	1001	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	227			NHL 3.		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.679G>T	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048318	0.75846	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	T;T;T	0.73469	-0.75;-0.75;-0.75	5.14	5.14	0.70334	Six-bladed beta-propeller, TolB-like (1);	0.117209	0.64402	D	0.000019	T	0.82051	0.4953	L	0.42008	1.315	0.43122	D	0.994846	D;P	0.89917	1.0;0.924	D;P	0.87578	0.998;0.788	T	0.80032	-0.1552	9	.	.	.	-14.3863	18.468	0.90762	0.0:0.0:1.0:0.0	.	160;227	B4DTL0;Q5JS37	.;NHLC3_HUMAN	L	30;227;160	ENSP00000418127:V30L;ENSP00000368920:V227L;ENSP00000368919:V160L	.	V	+	1	0	NHLRC3	38519177	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	7.115000	0.77110	2.779000	0.95612	0.563000	0.77884	GTG		0.358	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754	Missense_Mutation	21	12	1	0	7.41877e-09	0.012319	9.6382e-09	21	12				
MRPS31	10240	broad.mit.edu	37	13	41345263	41345263	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:41345263T>C	ENST00000323563.6	-	1	46	c.10A>G	c.(10-12)Aga>Gga	p.R4G		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	4						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)	p.R4G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GTCGAGACTCTAGGAAACATC	0.582																																							uc001uxm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AGA>GGA		mitochondrial ribosomal protein S31 precursor							102.0	92.0	96.0					13																	41345263		2203	4300	6503	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41345263T>C	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.10A>G	13.37:g.41345263T>C	ENSP00000315397:p.Arg4Gly						p.R4G	NM_005830	NP_005821	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	1	85	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	4					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.10A>G	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060920	0.55432	.	.	ENSG00000102738	ENST00000323563	T	0.39229	1.09	4.24	0.563	0.17296	.	0.000000	0.64402	D	0.000001	T	0.27594	0.0678	L	0.34521	1.04	0.09310	N	1	B	0.15930	0.015	B	0.19946	0.027	T	0.20009	-1.0288	10	0.72032	D	0.01	.	5.5416	0.17041	0.0:0.113:0.4869:0.4001	.	4	Q92665	RT31_HUMAN	G	4	ENSP00000315397:R4G	ENSP00000315397:R4G	R	-	1	2	MRPS31	40243263	0.007000	0.16637	0.000000	0.03702	0.007000	0.05969	0.671000	0.25172	-0.014000	0.14175	-0.371000	0.07208	AGA		0.582	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			16	25	0	0	0	0.00278	0	16	25				
VWA8	23078	broad.mit.edu	37	13	42142415	42142415	+	Missense_Mutation	SNP	C	C	A	rs372826442		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:42142415C>A	ENST00000379310.3	-	45	5704	c.5636G>T	c.(5635-5637)cGg>cTg	p.R1879L	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1879	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1879L(1)									AACGAAAGACCGACCAGCTGG	0.502																																							uc001uyj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(5635-5637)CGG>CTG		hypothetical protein LOC23078 isoform a							109.0	111.0	110.0					13																	42142415		1915	4120	6035	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42142415C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5636G>T	13.37:g.42142415C>A	ENSP00000368612:p.Arg1879Leu						p.R1879L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	45	5706	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1879			VWFA.		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5636G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540044	0.96474	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.15487	2.42	6.06	6.06	0.98353	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48410	-0.9038	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1879	A3KMH1	K0564_HUMAN	L	1783;1879	ENSP00000368612:R1879L	ENSP00000251030:R1783L	R	-	2	0	KIAA0564	41040415	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.324000	0.79115	2.882000	0.98803	0.655000	0.94253	CGG		0.502	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	29	1	0	1.08611e-07	0.010729	1.35165e-07	10	29				
LPAR6	10161	broad.mit.edu	37	13	48986493	48986494	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:48986493_48986494TG>AT	ENST00000378434.4	-	7	1690_1691	c.66_67CA>AT	c.(64-69)tgCAtg>tgATtg	p.22_23CM>*L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Nonsense_Mutation_p.22_23CM>*L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.C22_M23>*(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ATGCTGAACATGCACCCATACA	0.406																																							uc010acu.2		NA																	20	Whole gene deletion(15)|Unknown(4)|Complex - deletion inframe(1)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	ovary(4)	4						c.(64-69)TGCATG>TGATTG		G-protein coupled purinergic receptor P2Y5																																				SO:0001587	stop_gained	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48986493_48986494TG>AT	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.66_67delinsAT	13.37:g.48986493_48986494delinsAT	ENSP00000367691:p.C22_M23delins*L					RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Nonsense_Mutation_p.22_23CM>*L|LPAR6_uc001vcf.2_Nonsense_Mutation_p.22_23CM>*L	p.22_23CM>*L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	1160_1161	-			22_23			Helical; Name=1; (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Nonsense_Mutation	DNP	ENST00000378434.4	37	c.66_67CA>AT	CCDS9410.1																																																																																				0.406	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		26	24	0	0	0	0.004672	0	26	24				
PCDH17	27253	broad.mit.edu	37	13	58207410	58207410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:58207410G>T	ENST00000377918.3	+	1	756	c.730G>T	c.(730-732)Gag>Tag	p.E244*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	244	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E244*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCGGTCTTCGAGGCGCCATC	0.607																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(730-732)GAG>TAG		protocadherin 17 precursor							72.0	61.0	65.0					13																	58207410		2203	4300	6503	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207410G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.730G>T	13.37:g.58207410G>T	ENSP00000367151:p.Glu244*					PCDH17_uc010aec.1_Nonsense_Mutation_p.E244*	p.E244*	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1622	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	244			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.730G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	44	11.232009	0.99534	.	.	ENSG00000118946	ENST00000377918	.	.	.	4.87	4.87	0.63330	.	0.048817	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2082	0.89861	0.0:0.0:1.0:0.0	.	.	.	.	X	244	.	.	E	+	1	0	PCDH17	57105411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.590000	0.74085	2.558000	0.86282	0.650000	0.86243	GAG		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		27	21	1	0	1.2476e-16	0.00632	1.93207e-16	27	21				
SLITRK5	26050	broad.mit.edu	37	13	88329901	88329901	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:88329901C>A	ENST00000325089.6	+	2	2477	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P512H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	753					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P753H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAATACATCCCCCACCCACTG	0.652																																							uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2257-2259)CCC>CAC		SLIT and NTRK-like family, member 5 precursor							65.0	65.0	65.0					13																	88329901		2203	4299	6502	SO:0001583	missense	26050					integral to membrane		g.chr13:88329901C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2258C>A	13.37:g.88329901C>A	ENSP00000366283:p.Pro753His					SLITRK5_uc010tic.1_Missense_Mutation_p.P512H	p.P753H	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2477	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		753			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2258C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092660	0.76756	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61980	0.06;0.31	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.72894	2.215	0.54753	D	0.999987	P;D	0.89917	0.946;1.0	P;D	0.80764	0.718;0.994	T	0.78324	-0.2248	9	.	.	.	-11.8323	15.1483	0.72677	0.0:1.0:0.0:0.0	.	512;753	B4DSH5;O94991	.;SLIK5_HUMAN	H	753;512	ENSP00000366283:P753H;ENSP00000442244:P512H	.	P	+	2	0	SLITRK5	87127902	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	7.456000	0.80751	2.131000	0.65755	0.555000	0.69702	CCC		0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			12	41	1	0	4.3838e-07	0.001855	5.30671e-07	12	41				
FGF14	2259	broad.mit.edu	37	13	102527578	102527578	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:102527578C>A	ENST00000376143.4	-	2	261	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	FGF14_ENST00000376131.4_Missense_Mutation_p.D93Y|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	88					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.D93Y(1)|p.D88Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCTCCATCGGGGTGCATT	0.453																																							uc001vpe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(262-264)GAT>TAT		fibroblast growth factor 14 isoform 1A							185.0	160.0	169.0					13																	102527578		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102527578C>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.262G>T	13.37:g.102527578C>A	ENSP00000365313:p.Asp88Tyr					FGF14_uc001vpf.2_Missense_Mutation_p.D93Y	p.D88Y	NM_004115	NP_004106	Q92915	FGF14_HUMAN			2	262	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		88					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.262G>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681205	0.88542	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.71579	-0.58;-0.58	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.929;0.989	D	0.89700	0.3904	10	0.87932	D	0	.	19.4972	0.95079	0.0:1.0:0.0:0.0	.	93;88	Q92915-2;Q92915	.;FGF14_HUMAN	Y	93;88	ENSP00000365301:D93Y;ENSP00000365313:D88Y	ENSP00000365301:D93Y	D	-	1	0	FGF14	101325579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.668000	0.90789	0.563000	0.77884	GAT		0.453	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			10	17	1	0	1.58986e-06	0.008291	1.88777e-06	10	17				
F7	2155	broad.mit.edu	37	13	113773184	113773184	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:113773184C>A	ENST00000375581.3	+	9	1298	c.1263C>A	c.(1261-1263)atC>atA	p.I421I	F7_ENST00000541084.1_Silent_p.I352I|F7_ENST00000346342.3_Silent_p.I399I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	421	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I421I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGACGGGCATCGTCAGCTGGG	0.642																																							uc001vsv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1261-1263)ATC>ATA		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						32.0	32.0	32.0					13																	113773184		2199	4298	6497	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773184C>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1263C>A	13.37:g.113773184C>A						F7_uc001vsw.2_Silent_p.I399I|F7_uc010tjt.1_Silent_p.I352I	p.I421I	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1314	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	421			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.1263C>A	CCDS9528.1																																																																																				0.642	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		4	11	1	0	0.00909568	0.009096	0.00941403	4	11				
LRFN5	145581	broad.mit.edu	37	14	42356124	42356124	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:42356124G>T	ENST00000298119.4	+	3	1485	c.296G>T	c.(295-297)cGa>cTa	p.R99L	LRFN5_ENST00000554120.1_Missense_Mutation_p.R99L|LRFN5_ENST00000554171.1_Missense_Mutation_p.R99L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	99						integral component of membrane (GO:0016021)		p.R99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGACCTACGAAATTTGAGG	0.358										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(295-297)CGA>CTA		leucine rich repeat and fibronectin type III							56.0	57.0	57.0					14																	42356124		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356124G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.296G>T	14.37:g.42356124G>T	ENSP00000298119:p.Arg99Leu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.R99L	p.R99L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1494	+			99			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.296G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328668	0.60743	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51817	0.69;0.69;0.69	5.56	5.56	0.83823	.	0.000000	0.48767	D	0.000163	T	0.60392	0.2265	L	0.49455	1.56	0.44899	D	0.997918	P;P	0.46952	0.771;0.887	P;P	0.58391	0.67;0.838	T	0.55909	-0.8066	10	0.39692	T	0.17	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	99;99	G3V364;Q96NI6	.;LRFN5_HUMAN	L	99	ENSP00000298119:R99L;ENSP00000451897:R99L;ENSP00000451067:R99L	ENSP00000298119:R99L	R	+	2	0	LRFN5	41425874	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.295000	0.78780	2.595000	0.87683	0.650000	0.86243	CGA		0.358	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		22	67	1	0	1.64293e-13	0.00333	2.35083e-13	22	67				
SIX1	6495	broad.mit.edu	37	14	61113223	61113223	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:61113223C>A	ENST00000247182.6	-	2	905	c.633G>T	c.(631-633)ccG>ccT	p.P211P	SIX1_ENST00000554986.1_Silent_p.P38P	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	211					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P211P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TGGACATGAGCGGCTTGCCCC	0.527																																							uc001xfb.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)CCG>CCT		SIX homeobox 1							92.0	81.0	85.0					14																	61113223		2203	4300	6503	SO:0001819	synonymous_variant	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61113223C>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.633G>T	14.37:g.61113223C>A							p.P211P	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	2	881	-			211					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.633G>T	CCDS9748.1																																																																																				0.527	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			70	12	1	0	4.05715e-38	0.00361	7.61174e-38	70	12				
PCNX	22990	broad.mit.edu	37	14	71500153	71500153	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:71500153G>T	ENST00000304743.2	+	17	4012	c.3566G>T	c.(3565-3567)tGg>tTg	p.W1189L	PCNX_ENST00000238570.5_Missense_Mutation_p.W1189L|PCNX_ENST00000439984.3_Missense_Mutation_p.W1078L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1189						integral component of membrane (GO:0016021)		p.W1189L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGGATTCTTGGGATGGCCAG	0.353																																							uc001xmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3565-3567)TGG>TTG		pecanex-like 1							141.0	125.0	131.0					14																	71500153		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500153G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3566G>T	14.37:g.71500153G>T	ENSP00000304192:p.Trp1189Leu					PCNX_uc010are.1_Missense_Mutation_p.W1078L|PCNX_uc010arf.1_Missense_Mutation_p.W49L	p.W1189L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4012	+			1189					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3566G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.118524|4.118524	0.77323|0.77323	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.10288	.|3.28;3.27;2.89	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37348|0.37348	0.1000|0.1000	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.89917	.|0.844;1.0;0.958	.|P;D;P	.|0.91635	.|0.528;0.999;0.558	T|T	0.02484|0.02484	-1.1152|-1.1152	5|10	.|0.45353	.|T	.|0.12	.|.	19.8731|19.8731	0.96858|0.96858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1189;1078;1189	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	W|L	248|1189;1189;1078	.|ENSP00000304192:W1189L;ENSP00000238570:W1189L;ENSP00000396617:W1078L	.|ENSP00000238570:W1189L	G|W	+|+	1|2	0|0	PCNX|PCNX	70569906|70569906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.148000|9.148000	0.94652|0.94652	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.353	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		85	12	1	0	3.66348e-25	0.00361	6.39052e-25	85	12				
TMEM63C	57156	broad.mit.edu	37	14	77715175	77715175	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:77715175G>C	ENST00000298351.4	+	20	1974	c.1830G>C	c.(1828-1830)gtG>gtC	p.V610V		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	610					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.V610V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCAGCGTGGTGATGGCGTACA	0.567																																							uc001xtf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1828-1830)GTG>GTC		transmembrane protein 63C							254.0	243.0	247.0					14																	77715175		2189	4293	6482	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77715175G>C		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1830G>C	14.37:g.77715175G>C						TMEM63C_uc010asq.1_Silent_p.V610V	p.V610V	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	20	2042	+			610			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.1830G>C	CCDS45141.1																																																																																				0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			29	146	0	0	0	0.009535	0	29	146				
GOLGA5	9950	broad.mit.edu	37	14	93275695	93275695	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:93275695A>C	ENST00000163416.2	+	4	1079	c.823A>C	c.(823-825)Aag>Cag	p.K275Q	GOLGA5_ENST00000355976.2_Missense_Mutation_p.K275Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	275					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.K275Q(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGACCATTCAAAGAGTGATCG	0.398			T	RET	papillary thyroid																																		uc001yaz.1		NA		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(823-825)AAG>CAG		Golgi autoantigen, golgin subfamily a, 5							71.0	64.0	66.0					14																	93275695		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93275695A>C	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.823A>C	14.37:g.93275695A>C	ENSP00000163416:p.Lys275Gln						p.K275Q	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	4	1005	+		all_cancers(154;0.0934)	275			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.823A>C	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526464	0.27299	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.50277	0.75;0.75	6.08	4.91	0.64330	.	0.000000	0.51477	D	0.000090	T	0.38825	0.1055	L	0.38175	1.15	0.41784	D	0.98983	B	0.22800	0.075	B	0.23419	0.046	T	0.13176	-1.0519	10	0.27082	T	0.32	-15.9067	13.4393	0.61104	0.8692:0.1308:0.0:0.0	.	275	Q8TBA6	GOGA5_HUMAN	Q	275;275;184	ENSP00000163416:K275Q;ENSP00000348252:K275Q	ENSP00000163416:K275Q	K	+	1	0	GOLGA5	92345448	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	5.239000	0.65371	1.078000	0.41014	0.533000	0.62120	AAG		0.398	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			48	8	0	0	0	0.00361	0	48	8				
SERPINA3	12	broad.mit.edu	37	14	95088785	95088785	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:95088785A>G	ENST00000467132.1	+	4	2173	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G	SERPINA3_ENST00000482740.1_Missense_Mutation_p.D124G|SERPINA3_ENST00000393078.3_Missense_Mutation_p.D342G|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.D342G			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	342					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D342G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGCAAGGCTGACCTGTCAGGG	0.507																																							uc001ydp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(1024-1026)GAC>GGC		serpin peptidase inhibitor, clade A, member 3							87.0	80.0	82.0					14																	95088785		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95088785A>G	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1025A>G	14.37:g.95088785A>G	ENSP00000450540:p.Asp342Gly					SERPINA3_uc001ydo.3_Missense_Mutation_p.D367G|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D342G|SERPINA3_uc001yds.2_Missense_Mutation_p.D342G|SERPINA3_uc010avg.2_Missense_Mutation_p.D342G	p.D342G	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	4	1104	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	342					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.1025A>G	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727490	0.69074	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.84	3.69	0.42338	Serpin domain (3);	0.085850	0.47455	D	0.000225	D	0.94670	0.8281	M	0.87097	2.86	0.40022	D	0.975427	D;D	0.54964	0.969;0.962	D;P	0.64877	0.93;0.786	D	0.94397	0.7619	10	0.72032	D	0.01	.	9.6417	0.39844	0.9163:0.0:0.0837:0.0	.	342;367	P01011;G3V5I3	AACT_HUMAN;.	G	367;342;342;342;124	ENSP00000452367:D367G;ENSP00000376793:D342G;ENSP00000376795:D342G;ENSP00000450540:D342G;ENSP00000451119:D124G	ENSP00000376793:D342G	D	+	2	0	SERPINA3	94158538	1.000000	0.71417	0.510000	0.27712	0.040000	0.13550	8.596000	0.90844	0.859000	0.35456	0.379000	0.24179	GAC		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		72	6	0	0	0	0.00361	0	72	6				
DICER1	23405	broad.mit.edu	37	14	95579450	95579450	+	Silent	SNP	T	T	G	rs12437122	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:95579450T>G	ENST00000526495.1	-	14	2310	c.2019A>C	c.(2017-2019)tcA>tcC	p.S673S	DICER1_ENST00000343455.3_Silent_p.S673S|DICER1_ENST00000393063.1_Silent_p.S673S|DICER1_ENST00000527414.1_Silent_p.S673S|DICER1_ENST00000541352.1_Silent_p.S673S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	673	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCGAAGAGGTGAGTTAATTG	0.363			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(2017-2019)TCA>TCC		dicer1							97.0	98.0	98.0					14																	95579450		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95579450T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2019A>C	14.37:g.95579450T>G						DICER1_uc001ydv.2_Silent_p.S663S|DICER1_uc001ydx.2_Silent_p.S673S	p.S673S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	13	2201	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	673			Dicer dsRNA-binding fold.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.2019A>C	CCDS9931.1																																																																																				0.363	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	89	0	0	0	0.00499	0	6	89				
OR4M2	390538	broad.mit.edu	37	15	22369185	22369185	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:22369185G>T	ENST00000332663.2	+	1	708	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G204C(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGTAGTAGTGGTCTGATCTC	0.468																																							uc010tzu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)GGT>TGT		olfactory receptor, family 4, subfamily M,							591.0	408.0	470.0					15																	22369185		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369185G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.610G>T	15.37:g.22369185G>T	ENSP00000329467:p.Gly204Cys					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.G204C	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	610	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	204			Helical; Name=5; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.610G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.713070	0.48517	.	.	ENSG00000182974	ENST00000332663	T	0.38077	1.16	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000107	T	0.62183	0.2407	M	0.88310	2.945	0.40594	D	0.981515	D	0.89917	1.0	D	0.97110	1.0	T	0.70360	-0.4893	10	0.87932	D	0	-8.1112	10.8078	0.46529	0.0:0.0:1.0:0.0	.	204	Q8NGB6	OR4M2_HUMAN	C	204	ENSP00000329467:G204C	ENSP00000329467:G204C	G	+	1	0	OR4M2	19870549	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.880000	0.63107	1.422000	0.47177	0.448000	0.29417	GGT		0.468	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			51	178	1	0	1.47633e-17	0.00361	2.33282e-17	51	178				
OR4N3P	390539	broad.mit.edu	37	15	22414141	22414141	+	IGR	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:22414141C>A								RP11-69H14.6 (30333 upstream) : RP11-2F9.4 (19748 downstream)																							CGCATACGAGCGTCTTCTTCT	0.473																																							uc001yuf.2		NA																	0					0						c.(439-441)GCG>GAG		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414141C>A																													15.37:g.22414141C>A							p.A147E	NM_001080841	NP_001074310					1	440	+									Missense_Mutation	SNP		37	c.440C>A																																																																																				0	0.473									18	61	1	0	2.94398e-08	0.007413	3.76951e-08	18	61				
OR4N3P	390539	broad.mit.edu	37	15	22414193	22414193	+	IGR	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:22414193C>G								RP11-69H14.6 (30385 upstream) : RP11-2F9.4 (19696 downstream)																							CCACCCATATCATTGTTATAT	0.488																																							uc001yuf.2		NA																	0					0						c.(490-492)ATC>ATG		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22414193C>G																													15.37:g.22414193C>G							p.I164M	NM_001080841	NP_001074310					1	492	+									Missense_Mutation	SNP		37	c.492C>G																																																																																				0	0.488									31	91	0	0	0	0.010818	0	31	91				
MAGEL2	54551	broad.mit.edu	37	15	23889461	23889461	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:23889461G>C	ENST00000532292.1	-	1	1714	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	423					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.V540V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGTCTCCCGGACATCCAACC	0.458																																							uc001ywj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1618-1620)GTC>GTG		MAGE-like protein 2							50.0	49.0	49.0					15																	23889461		1879	4107	5986	SO:0001819	synonymous_variant	54551							g.chr15:23889461G>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1620C>G	15.37:g.23889461G>C							p.V540V	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1715	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1620C>G		.	.	.	.	.	.	.	.	.	.	G	0.013	-1.622068	0.00820	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.44	0.136	0.14780	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	4.6377	0.12531	0.2658:0.2099:0.5243:0.0	.	.	.	.	C	572	.	.	S	-	2	0	MAGEL2	21440554	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.015000	0.12634	-0.061000	0.13110	-0.657000	0.03884	TCC		0.458	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		17	12	0	0	0	0.00499	0	17	12				
RYR3	6263	broad.mit.edu	37	15	33991938	33991938	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:33991938C>T	ENST00000389232.4	+	41	6353	c.6283C>T	c.(6283-6285)Cgt>Tgt	p.R2095C	RYR3_ENST00000415757.3_Missense_Mutation_p.R2095C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2095	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2095C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCTGCTGCCGTTTCCTTTG	0.443																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6283-6285)CGT>TGT		ryanodine receptor 3							116.0	105.0	108.0					15																	33991938		1892	4120	6012	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33991938C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6283C>T	15.37:g.33991938C>T	ENSP00000373884:p.Arg2095Cys					RYR3_uc010bar.2_Missense_Mutation_p.R2095C	p.R2095C	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	41	6353	+		all_lung(180;7.18e-09)	2095			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6283C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866289	0.71949	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96459	-4.02;-4.02	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.125946	0.56097	D	0.000035	D	0.97904	0.9311	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.98;0.997	P;D	0.67548	0.606;0.952	D	0.98552	1.0637	10	0.87932	D	0	.	18.614	0.91296	0.0:1.0:0.0:0.0	.	2095;2095	Q15413-2;Q15413	.;RYR3_HUMAN	C	2095	ENSP00000373884:R2095C;ENSP00000399610:R2095C	ENSP00000354735:R2095C	R	+	1	0	RYR3	31779230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.705000	0.92388	0.643000	0.83706	CGT		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	7	0	0	0	0.00245	0	15	7				
TGM7	116179	broad.mit.edu	37	15	43572139	43572139	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:43572139C>T	ENST00000452443.2	-	10	1366	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	454					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E454E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCTCTCTCCTCAGGGGATC	0.567																																							uc001zrf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1360-1362)GAG>GAA		transglutaminase 7	L-Glutamine(DB00130)						46.0	48.0	47.0					15																	43572139		2202	4299	6501	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43572139C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1362G>A	15.37:g.43572139C>T							p.E454E	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	10	1367	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	454						Silent	SNP	ENST00000452443.2	37	c.1362G>A	CCDS32213.1																																																																																				0.567	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		13	31	0	0	0	0.003163	0	13	31				
CASC4	113201	broad.mit.edu	37	15	44630106	44630106	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:44630106G>T	ENST00000345795.2	+	5	991		c.e5+1		CASC4_ENST00000299957.6_Splice_Site|CASC4_ENST00000360824.3_Splice_Site	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CATGGGAAAGGTATTATTGTT	0.279																																							uc001zto.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e5+1		cancer susceptibility candidate 4 isoform a							69.0	69.0	69.0					15																	44630106		2198	4295	6493	SO:0001630	splice_region_variant	113201					integral to membrane		g.chr15:44630106G>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.721+1G>T	15.37:g.44630106G>T						CASC4_uc001ztp.2_Splice_Site_p.E241_splice|CASC4_uc001ztq.2_Splice_Site_p.E241_splice|CASC4_uc010bdu.1_Splice_Site	p.E241_splice	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	5	1020	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)						B4DPZ6|G5E934|Q6UY45|Q96EM1	Splice_Site	SNP	ENST00000345795.2	37	c.721_splice	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372160	0.61624	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5309	0.84359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASC4	42417398	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.229000	0.65316	2.885000	0.99019	0.655000	0.94253	.		0.279	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423	Intron	16	24	1	0	3.52763e-06	0.00499	4.14113e-06	16	24				
SLC24A5	283652	broad.mit.edu	37	15	48413249	48413249	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:48413249C>T	ENST00000341459.3	+	1	81	c.8C>T	c.(7-9)aCa>aTa	p.T3I	SLC24A5_ENST00000449382.2_Missense_Mutation_p.T3I|SLC24A5_ENST00000482911.2_Missense_Mutation_p.T3I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	3					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T3I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAAATGCAGACAAAAGGGGGC	0.562																																							uc001zwe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7-9)ACA>ATA		solute carrier family 24, member 5 precursor							67.0	56.0	59.0					15																	48413249		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48413249C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.8C>T	15.37:g.48413249C>T	ENSP00000341550:p.Thr3Ile					SLC24A5_uc001zwd.2_Missense_Mutation_p.T3I|SLC24A5_uc010bel.2_Missense_Mutation_p.T3I	p.T3I	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	1	81	+		all_lung(180;0.00217)	3					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.8C>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.102058	0.20632	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75821	-0.89;-0.97	4.67	0.416	0.16416	.	0.956226	0.08677	N	0.910040	T	0.49423	0.1556	N	0.08118	0	0.09310	N	1	B;B;B	0.18013	0.0;0.0;0.025	B;B;B	0.12156	0.001;0.001;0.007	T	0.33214	-0.9877	10	0.37606	T	0.19	.	2.8202	0.05469	0.3257:0.4255:0.1583:0.0904	.	3;3;3	A5X8Z9;Q71RS6;A5X8Z8	.;NCKX5_HUMAN;.	I	3	ENSP00000341550:T3I;ENSP00000389966:T3I	ENSP00000341550:T3I	T	+	2	0	SLC24A5	46200541	0.085000	0.21516	0.118000	0.21660	0.704000	0.40688	0.057000	0.14279	0.097000	0.17492	0.655000	0.94253	ACA		0.562	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		3	26	0	0	0	0.004672	0	3	26				
ATP8B4	79895	broad.mit.edu	37	15	50226373	50226373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:50226373C>A	ENST00000284509.6	-	15	1435	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E432*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	432						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E432*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCCACAGGCTCTTTTTCCTGT	0.348																																							uc001zxu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1294-1296)GAG>TAG		ATPase class I type 8B member 4							77.0	79.0	78.0					15																	50226373		2196	4294	6490	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226373C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1294G>T	15.37:g.50226373C>A	ENSP00000284509:p.Glu432*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.E305*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E305*|ATP8B4_uc010ufe.1_RNA	p.E432*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1436	-		all_lung(180;0.00183)	432			Cytoplasmic (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1294G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210759	0.58343	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.61	-3.09	0.05331	.	0.816805	0.11496	N	0.558200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	7.1026	0.25346	0.0:0.3732:0.1206:0.5062	.	.	.	.	X	432	.	ENSP00000284509:E432X	E	-	1	0	ATP8B4	48013665	0.011000	0.17503	0.000000	0.03702	0.096000	0.18686	0.199000	0.17237	-0.400000	0.07656	-0.967000	0.02615	GAG		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		13	37	1	0	5.50884e-06	0.001368	6.39437e-06	13	37				
HDC	3067	broad.mit.edu	37	15	50555433	50555433	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:50555433C>A	ENST00000267845.3	-	2	605	c.203G>T	c.(202-204)gGg>gTg	p.G68V	HDC_ENST00000543581.1_Splice_Site_p.G68V	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.G68V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GTGTCTCACCCCAGGCATGAT	0.587																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(202-204)GGG>GTG		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						163.0	148.0	153.0					15																	50555433		2196	4295	6491	SO:0001630	splice_region_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50555433C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.204+1G>T	15.37:g.50555433C>A						HDC_uc010uff.1_Missense_Mutation_p.G68V|HDC_uc010bet.1_Missense_Mutation_p.G68V|HDC_uc010beu.1_Missense_Mutation_p.G68V	p.G68V	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	2	309	-		all_lung(180;0.0138)	68						Missense_Mutation	SNP	ENST00000267845.3	37	c.203G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130391	0.94473	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.44881	0.91;0.91	6.05	6.05	0.98169	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82898	-0.0229	10	0.87932	D	0	-28.6115	20.6013	0.99457	0.0:1.0:0.0:0.0	.	68;68	B7ZM01;P19113	.;DCHS_HUMAN	V	68	ENSP00000267845:G68V;ENSP00000440252:G68V	ENSP00000267845:G68V	G	-	2	0	HDC	48342725	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.724000	0.84798	2.878000	0.98634	0.650000	0.86243	GGG		0.587	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		Missense_Mutation	23	100	1	0	1.10513e-12	0.002299	1.54918e-12	23	100				
AP4E1	23431	broad.mit.edu	37	15	51201079	51201079	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:51201079G>T	ENST00000261842.5	+	1	210	c.104G>T	c.(103-105)aGg>aTg	p.R35M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	35					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.R35M(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCTCCTCGAGGCTGGGCAGC	0.701																																							uc001zyx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)AGG>ATG		adaptor-related protein complex 4, epsilon 1							11.0	14.0	13.0					15																	51201079		2179	4264	6443	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51201079G>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.104G>T	15.37:g.51201079G>T	ENSP00000261842:p.Arg35Met					AP4E1_uc010ufi.1_Missense_Mutation_p.R35M|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	p.R35M	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	1	134	+			35					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.104G>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783724	0.90282	.	.	ENSG00000081014	ENST00000261842	T	0.19938	2.11	5.39	5.39	0.77823	Armadillo-like helical (1);	0.070801	0.64402	D	0.000007	T	0.27663	0.0680	L	0.27053	0.805	0.80722	D	1	P;D	0.57899	0.875;0.981	B;P	0.54270	0.365;0.747	T	0.01146	-1.1437	10	0.59425	D	0.04	-12.3927	16.2275	0.82311	0.0:0.0:1.0:0.0	.	35;35	B4DM48;Q9UPM8	.;AP4E1_HUMAN	M	35	ENSP00000261842:R35M	ENSP00000261842:R35M	R	+	2	0	AP4E1	48988371	1.000000	0.71417	0.982000	0.44146	0.808000	0.45660	4.888000	0.63164	2.668000	0.90789	0.557000	0.71058	AGG		0.701	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			11	4	1	0	1.08611e-07	0.010729	1.35165e-07	11	4				
SKOR1	390598	broad.mit.edu	37	15	68119376	68119376	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:68119376G>T	ENST00000380035.2	+	2	1268	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	SKOR1_ENST00000341418.5_Missense_Mutation_p.G511C|SKOR1_ENST00000554054.1_Missense_Mutation_p.G376C|SKOR1_ENST00000389002.1_Missense_Mutation_p.G360C|SKOR1_ENST00000554240.1_Missense_Mutation_p.G365C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	404					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.G404C(1)|p.G360C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TACGGCCTTCGGCCTATGCCC	0.677																																							uc002aqy.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1078-1080)GGC>TGC		transcriptional corepressor Corl1							16.0	21.0	20.0					15																	68119376		2194	4297	6491	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68119376G>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1210G>T	15.37:g.68119376G>T	ENSP00000369374:p.Gly404Cys						p.G360C	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			3	1078	+			404					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.1078G>T		.	.	.	.	.	.	.	.	.	.	G	13.70	2.314069	0.40996	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.38	0.277	0.15668	.	0.069563	0.56097	D	0.000025	T	0.21509	0.0518	L	0.38175	1.15	0.33007	D	0.526982	D	0.69078	0.997	D	0.64776	0.929	T	0.22871	-1.0204	10	0.48119	T	0.1	-13.8111	4.491	0.11813	0.2092:0.0:0.6159:0.1749	.	360	P84550-3	.	C	511;365;376;404;360	ENSP00000343200:G511C;ENSP00000451193:G365C;ENSP00000452361:G376C;ENSP00000369374:G404C;ENSP00000373654:G360C	ENSP00000343200:G511C	G	+	1	0	SKOR1	65906430	1.000000	0.71417	0.935000	0.37517	0.443000	0.32047	6.633000	0.74286	-0.037000	0.13646	0.456000	0.33151	GGC		0.677	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		7	18	1	0	0.000157383	0.00308	0.000174216	7	18				
NOX5	79400	broad.mit.edu	37	15	69327796	69327796	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:69327796G>T	ENST00000388866.3	+	6	999	c.958G>T	c.(958-960)Gtg>Ttg	p.V320L	NOX5_ENST00000448182.3_Missense_Mutation_p.V274L|NOX5_ENST00000260364.5_Missense_Mutation_p.V302L|NOX5_ENST00000530406.2_Missense_Mutation_p.V292L|NOX5_ENST00000455873.3_Missense_Mutation_p.V285L|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	320	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.V302L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TATGGGCTACGTGGTAGTGGG	0.612																																							uc002ars.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(958-960)GTG>TTG		NADPH oxidase, EF-hand calcium binding domain 5							103.0	68.0	80.0					15																	69327796		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327796G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.958G>T	15.37:g.69327796G>T	ENSP00000373518:p.Val320Leu					NOX5_uc002arp.1_Missense_Mutation_p.V302L|NOX5_uc002arq.1_Missense_Mutation_p.V274L|NOX5_uc010bid.1_Missense_Mutation_p.V285L|NOX5_uc002arr.1_Missense_Mutation_p.V292L|NOX5_uc010bie.1_Missense_Mutation_p.V120L|NOX5_uc010bif.1_RNA	p.V320L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	978	+			320			Ferric oxidoreductase.|Helical; (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.958G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700260	0.30142	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.91011	-2.77;-2.77;-2.77	3.44	1.51	0.23008	Flavoprotein transmembrane component (1);	0.297559	0.31392	N	0.007721	D	0.84133	0.5405	L	0.39147	1.195	0.29151	N	0.878382	P;D;B	0.53885	0.772;0.963;0.389	B;P;B	0.45474	0.203;0.482;0.059	T	0.77043	-0.2734	10	0.14252	T	0.57	-5.3221	7.8724	0.29573	0.2147:0.0:0.7853:0.0	.	285;320;292	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	285;302;320;292	ENSP00000416828:V285L;ENSP00000373518:V320L;ENSP00000432440:V292L	ENSP00000373518:V320L	V	+	1	0	NOX5	67114850	1.000000	0.71417	0.798000	0.32154	0.513000	0.34164	3.523000	0.53488	0.027000	0.15297	0.462000	0.41574	GTG		0.612	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		20	19	1	0	1.2644e-06	0.010504	1.51875e-06	20	19				
MYO9A	4649	broad.mit.edu	37	15	72208825	72208825	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:72208825T>C	ENST00000356056.5	-	19	3043	c.2571A>G	c.(2569-2571)ctA>ctG	p.L857L	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.L857L|MYO9A_ENST00000566885.1_Silent_p.L477L|MYO9A_ENST00000444904.1_Silent_p.L838L|MYO9A_ENST00000424560.1_Silent_p.L857L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	857	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.L857L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTACTTCTAGCAAGTGCT	0.338																																							uc002atl.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2569-2571)CTA>CTG		myosin IXA							74.0	78.0	77.0					15																	72208825		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72208825T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2571A>G	15.37:g.72208825T>C						MYO9A_uc010biq.2_Silent_p.L477L|MYO9A_uc002atn.1_Silent_p.L838L	p.L857L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			19	3044	-			857					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.2571A>G	CCDS10239.1																																																																																				0.338	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		28	33	0	0	0	0.005443	0	28	33				
NEO1	4756	broad.mit.edu	37	15	73409019	73409019	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:73409019G>A	ENST00000339362.5	+	3	716	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NEO1_ENST00000560262.1_Missense_Mutation_p.G90E|NEO1_ENST00000558964.1_Missense_Mutation_p.G90E|NEO1_ENST00000261908.6_Missense_Mutation_p.G90E			Q92859	NEO1_HUMAN	neogenin 1	90	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G90E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAAAAGATGGAACTTTTTTA	0.393																																							uc002avm.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(268-270)GGA>GAA		neogenin homolog 1 precursor							125.0	130.0	128.0					15																	73409019		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73409019G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.269G>A	15.37:g.73409019G>A	ENSP00000341198:p.Gly90Glu					NEO1_uc010ukx.1_Missense_Mutation_p.G90E|NEO1_uc010uky.1_Missense_Mutation_p.G90E|NEO1_uc010ukz.1_5'UTR	p.G90E	NM_002499	NP_002490	Q92859	NEO1_HUMAN			2	411	+			90			Extracellular (Potential).|Ig-like C2-type 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.269G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991998	0.93167	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.55413	0.52;0.52	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75654	-0.3243	10	0.59425	D	0.04	-17.657	20.3495	0.98807	0.0:0.0:1.0:0.0	.	90;90;90	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	E	90	ENSP00000341198:G90E;ENSP00000261908:G90E	ENSP00000261908:G90E	G	+	2	0	NEO1	71196072	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.209000	0.95087	2.814000	0.96858	0.591000	0.81541	GGA		0.393	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		32	96	0	0	0	0.003755	0	32	96				
CEMIP	57214	broad.mit.edu	37	15	81188358	81188358	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:81188358G>T	ENST00000394685.3	+	12	1787	c.1368G>T	c.(1366-1368)gtG>gtT	p.V456V	KIAA1199_ENST00000356249.5_Silent_p.V456V|KIAA1199_ENST00000220244.3_Silent_p.V456V|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		456	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.V456V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTTCCAGGTGCTTCCCTGCA	0.473																																							uc002bfw.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1366-1368)GTG>GTT		KIAA1199 precursor							133.0	119.0	124.0					15																	81188358		2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81188358G>T																												ENST00000394685.3:c.1368G>T	15.37:g.81188358G>T						KIAA1199_uc010unn.1_Silent_p.V456V	p.V456V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			11	1628	+			456					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1368G>T	CCDS10315.1																																																																																				0.473	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			24	48	1	0	4.26978e-12	0.00333	5.89229e-12	24	48				
ADAMTSL3	57188	broad.mit.edu	37	15	84373230	84373230	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:84373230G>T	ENST00000286744.5	+	3	383	c.159G>T	c.(157-159)gaG>gaT	p.E53D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E53D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	53						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E53D(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAACAGGGGAGCAGTTCCTCA	0.458																																							uc002bjz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(157-159)GAG>GAT		ADAMTS-like 3 precursor							191.0	189.0	190.0					15																	84373230		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373230G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.159G>T	15.37:g.84373230G>T	ENSP00000286744:p.Glu53Asp					ADAMTSL3_uc002bjy.1_Missense_Mutation_p.E53D|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E53D|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E53D	p.E53D	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	383	+			53					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.159G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730429	0.69074	.	.	ENSG00000156218	ENST00000286744	T	0.65916	-0.18	5.45	2.5	0.30297	.	0.942429	0.08840	N	0.885939	T	0.70552	0.3237	L	0.41236	1.265	0.32709	N	0.511808	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.66380	-0.5938	10	0.46703	T	0.11	.	9.6819	0.40076	0.404:0.0:0.596:0.0	.	53;53	P82987-2;P82987	.;ATL3_HUMAN	D	53	ENSP00000286744:E53D	ENSP00000286744:E53D	E	+	3	2	ADAMTSL3	82164234	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.172000	0.16704	0.259000	0.21709	0.655000	0.94253	GAG		0.458	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		84	70	1	0	1.19347e-43	0.00361	2.27345e-43	84	70				
AKAP13	11214	broad.mit.edu	37	15	86236676	86236676	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:86236676T>A	ENST00000394518.2	+	17	5553	c.5458T>A	c.(5458-5460)Tgt>Agt	p.C1820S	AKAP13_ENST00000394510.2_Missense_Mutation_p.C65S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.C1824S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1820					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.C1824S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCCTATACTTGTGCAAGTAA	0.463																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(5458-5460)TGT>AGT		A-kinase anchor protein 13 isoform 2							158.0	148.0	151.0					15																	86236676		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86236676T>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5458T>A	15.37:g.86236676T>A	ENSP00000378026:p.Cys1820Ser					AKAP13_uc002blu.1_Missense_Mutation_p.C1824S|AKAP13_uc010bnf.1_Missense_Mutation_p.C442S|AKAP13_uc002blw.1_Missense_Mutation_p.C287S|AKAP13_uc002blx.1_Missense_Mutation_p.C65S	p.C1820S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			17	5628	+			1820			Phorbol-ester/DAG-type.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.5458T>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285597	0.80803	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	D;D;D	0.99891	-7.56;-7.56;-7.56	5.85	5.85	0.93711	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	.	.	.	.	D	0.99857	0.9933	M	0.76727	2.345	0.44149	D	0.996946	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	D	0.96159	0.9114	9	0.87932	D	0	.	14.1845	0.65595	0.0:0.0:0.0:1.0	.	1802;1820;1824	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	S	1824;1820;1823;1801;65	ENSP00000354718:C1824S;ENSP00000378026:C1820S;ENSP00000378018:C65S	ENSP00000354718:C1824S	C	+	1	0	AKAP13	84037680	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	5.037000	0.64170	2.228000	0.72767	0.533000	0.62120	TGT		0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		27	56	0	0	0	0.009535	0	27	56				
NTRK3	4916	broad.mit.edu	37	15	88679745	88679745	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:88679745C>G	ENST00000360948.2	-	7	879	c.718G>C	c.(718-720)Gat>Cat	p.D240H	NTRK3_ENST00000355254.2_Missense_Mutation_p.D240H|NTRK3_ENST00000558676.1_Missense_Mutation_p.D240H|NTRK3_ENST00000540489.2_Missense_Mutation_p.D240H|NTRK3_ENST00000394480.2_Missense_Mutation_p.D240H|NTRK3_ENST00000557856.1_Missense_Mutation_p.D240H|NTRK3_ENST00000317501.3_Missense_Mutation_p.D240H|NTRK3_ENST00000357724.2_Missense_Mutation_p.D240H|NTRK3_ENST00000542733.2_Missense_Mutation_p.D142H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	240	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D240H(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGTCCACATCAGGAAGGGGT	0.562			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(718-720)GAT>CAT		neurotrophic tyrosine kinase, receptor, type 3							156.0	99.0	118.0					15																	88679745		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679745C>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.718G>C	15.37:g.88679745C>G	ENSP00000354207:p.Asp240His	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.D240H|NTRK3_uc002bmf.1_Missense_Mutation_p.D240H|NTRK3_uc010upl.1_Missense_Mutation_p.D142H|NTRK3_uc010bnh.1_Missense_Mutation_p.D240H|NTRK3_uc002bmg.2_Missense_Mutation_p.D240H	p.D240H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		7	880	-			240			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.718G>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876284	0.91664	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.097934	0.64402	D	0.000002	T	0.77691	0.4168	L	0.42245	1.32	0.80722	D	1	D;D;P;D;D;P	0.89917	0.998;0.998;0.907;1.0;0.984;0.907	D;D;P;D;P;P	0.79108	0.961;0.947;0.863;0.992;0.885;0.863	T	0.78770	-0.2074	10	0.72032	D	0.01	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	142;240;240;240;240;240	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	H	240;240;240;240;142;240;240	ENSP00000377990:D240H;ENSP00000354207:D240H;ENSP00000350356:D240H;ENSP00000347397:D240H;ENSP00000437773:D142H;ENSP00000444673:D240H;ENSP00000318328:D240H	ENSP00000318328:D240H	D	-	1	0	NTRK3	86480749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.026000	0.76455	2.657000	0.90304	0.655000	0.94253	GAT		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				15	13	0	0	0	0.004007	0	15	13				
POLG	5428	broad.mit.edu	37	15	89867077	89867077	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:89867077C>A	ENST00000268124.5	-	12	2459	c.2126G>T	c.(2125-2127)cGa>cTa	p.R709L	POLG_ENST00000442287.2_Missense_Mutation_p.R709L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	709					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R709L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CACTGCAGCTCGCAAGTTCTC	0.567								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2125-2127)CGA>CTA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							129.0	121.0	124.0					15																	89867077		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89867077C>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2126G>T	15.37:g.89867077C>A	ENSP00000268124:p.Arg709Leu					POLG_uc002bnr.3_Missense_Mutation_p.R709L	p.R709L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		12	2408	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		709					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2126G>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986572	0.35036	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.98362	-4.89;-4.89;-3.19	3.98	-3.76	0.04359	.	1.795170	0.02955	N	0.142230	D	0.93080	0.7797	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.88174	0.2866	10	0.49607	T	0.09	17.4278	5.6593	0.17660	0.1338:0.3323:0.0:0.5339	.	709	P54098	DPOG1_HUMAN	L	709;709;165	ENSP00000268124:R709L;ENSP00000399851:R709L;ENSP00000432389:R165L	ENSP00000268124:R709L	R	-	2	0	POLG	87668081	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-2.679000	0.00838	-0.769000	0.04620	0.655000	0.94253	CGA		0.567	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		6	34	1	0	2.0095e-06	0.001984	2.37243e-06	6	34				
SV2B	9899	broad.mit.edu	37	15	91769503	91769503	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:91769503T>C	ENST00000394232.1	+	2	480	c.10T>C	c.(10-12)Tac>Cac	p.Y4H	SV2B_ENST00000330276.4_Missense_Mutation_p.Y4H|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	4					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.Y4H(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATGGATGACTACAAGTATCA	0.488																																							uc002bqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(10-12)TAC>CAC		synaptic vesicle protein 2B homolog							74.0	60.0	65.0					15																	91769503		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769503T>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.10T>C	15.37:g.91769503T>C	ENSP00000377779:p.Tyr4His					SV2B_uc002bqt.2_Missense_Mutation_p.Y4H|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.Y4H	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	401	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		4			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.10T>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590273	0.46214	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.61742	0.08;0.08	5.71	5.71	0.89125	.	0.251884	0.40908	D	0.000996	T	0.55081	0.1898	M	0.68317	2.08	0.54753	D	0.999983	P	0.47350	0.894	B	0.38712	0.28	T	0.59209	-0.7497	10	0.37606	T	0.19	-18.8654	14.8019	0.69922	0.0:0.0:0.0:1.0	.	4	Q7L1I2	SV2B_HUMAN	H	4	ENSP00000377779:Y4H;ENSP00000332818:Y4H	ENSP00000332818:Y4H	Y	+	1	0	SV2B	89570507	1.000000	0.71417	0.994000	0.49952	0.825000	0.46686	1.708000	0.37899	2.182000	0.69389	0.460000	0.39030	TAC		0.488	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		10	11	0	0	0	0.010729	0	10	11				
TARSL2	123283	broad.mit.edu	37	15	102197239	102197240	+	Splice_Site	DNP	CC	CC	TA			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:102197239_102197240CC>TA	ENST00000335968.3	-	18	2362	c.2146_2146GG>TA	c.(2146-2148)GGgt>TAggt	p.G716*	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	716					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACTGGATACCTAGAAGAAAA	0.396																																							uc002bxm.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e18-1		threonyl-tRNA synthetase-like 2																																				SO:0001630	splice_region_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102197239_102197240CC>TA	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2146_2146delinsTA	15.37:g.102197239_102197240delinsTA						TARSL2_uc002bxl.2_Splice_Site_p.W236_splice|TARSL2_uc010usi.1_Splice_Site	p.V716_splice	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		18	2201	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)							B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Splice_Site	DNP	ENST00000335968.3	37	c.2146_splice	CCDS10394.1																																																																																				0.396	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	Nonsense_Mutation	17	17	0	0	0	0.004672	0	17	17				
VASN	114990	broad.mit.edu	37	16	4431769	4431769	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:4431769C>T	ENST00000304735.3	+	2	1046	c.891C>T	c.(889-891)cgC>cgT	p.R297R	CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	297					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)	p.R297R(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						CAGCTGCCCGCAACCCCTTCA	0.692																																							uc002cwj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)CGC>CGT		slit-like 2 precursor							16.0	21.0	19.0					16																	4431769		2179	4275	6454	SO:0001819	synonymous_variant	114990					extracellular region|integral to membrane		g.chr16:4431769C>T	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.891C>T	16.37:g.4431769C>T						CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.R297R	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	1046	+			297			Extracellular (Potential).		Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	c.891C>T	CCDS10514.1																																																																																				0.692	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		9	31	0	0	0	0.010729	0	9	31				
TNP2	7142	broad.mit.edu	37	16	11363161	11363161	+	5'UTR	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:11363161C>A	ENST00000312693.3	-	0	28				RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)						acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TCCTCATCCTCTCCCAGCAGG	0.582																																							uc002das.2		NA																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.e1-1		transition protein 2 (during histone to							34.0	36.0	35.0					16																	11363161		2016	4172	6188	SO:0001623	5_prime_UTR_variant	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11363161C>A		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.-42G>T	16.37:g.11363161C>A						C16orf75_uc002daq.1_Intron		NM_005425	NP_005416	Q05952	STP2_HUMAN			1	1	-								Q9NZB0	Splice_Site	SNP	ENST00000312693.3	37	c.-40_splice	CCDS45410.1																																																																																				0.582	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		7	13	1	0	2.0095e-06	0.001984	2.37243e-06	7	13				
PRM2	5620	broad.mit.edu	37	16	11369761	11369761	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:11369761T>A	ENST00000241808.4	-	2	414	c.305A>T	c.(304-306)cAc>cTc	p.H102L	RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_5'Flank|PRM2_ENST00000435245.2_Missense_Mutation_p.T117S|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	102					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H102L(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GGAAGCTTAGTGCCTTCTGCA	0.537																																							uc002dau.1		NA																	2	Substitution - Missense(1)|Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(304-306)CAC>CTC		protamine 2							84.0	92.0	89.0					16																	11369761		1871	4108	5979	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11369761T>A		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.305A>T	16.37:g.11369761T>A	ENSP00000241808:p.His102Leu					C16orf75_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank|PRM2_uc010bus.1_Missense_Mutation_p.T117S	p.H102L	NM_002762	NP_002753	P04554	PRM2_HUMAN			2	415	-			102					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.305A>T	CCDS42118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.89|10.89	1.478940|1.478940	0.26511|0.26511	.|.	.|.	ENSG00000122304|ENSG00000122304	ENST00000241808|ENST00000435245	.|.	.|.	.|.	3.15|3.15	-6.29|-6.29	0.02013|0.02013	.|.	1.138920|.	0.06919|.	N|.	0.809097|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|B	0.22003|0.22346	0.063|0.068	B|B	0.14578|0.15870	0.011|0.014	T|T	0.23048|0.23048	-1.0199|-1.0199	9|8	0.87932|0.87932	D|D	0|0	-1.3241|-1.3241	7.9016|7.9016	0.29738|0.29738	0.0:0.152:0.1221:0.7259|0.0:0.152:0.1221:0.7259	.|.	102|117	P04554|Q6ZMM0	PRM2_HUMAN|.	L|S	102|117	.|.	ENSP00000241808:H102L|ENSP00000403681:T117S	H|T	-|-	2|1	0|0	PRM2|PRM2	11277262|11277262	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.370000|-0.370000	0.07523|0.07523	-1.895000|-1.895000	0.01104|0.01104	-1.074000|-1.074000	0.02243|0.02243	CAC|ACT		0.537	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			3	12	0	0	0	0.004672	0	3	12				
GTF3C1	2975	broad.mit.edu	37	16	27499558	27499558	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:27499558T>A	ENST00000356183.4	-	23	3705	c.3690A>T	c.(3688-3690)agA>agT	p.R1230S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1230S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1230	Arg/Lys-rich (basic).				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R1230S(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTTCTTCTTTCTCTTGATCT	0.537																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3688-3690)AGA>AGT		general transcription factor IIIC, polypeptide							159.0	170.0	167.0					16																	27499558		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27499558T>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3690A>T	16.37:g.27499558T>A	ENSP00000348510:p.Arg1230Ser					GTF3C1_uc002dou.2_Missense_Mutation_p.R1230S	p.R1230S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			23	3730	-			1230			Arg/Lys-rich (basic).		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3690A>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	7.120	0.577719	0.13686	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26660	1.72	4.6	-3.67	0.04476	.	0.387370	0.23565	N	0.046818	T	0.21550	0.0519	M	0.62723	1.935	0.09310	N	1	B;B	0.33549	0.346;0.417	B;B	0.28011	0.053;0.085	T	0.08534	-1.0717	10	0.52906	T	0.07	-9.1776	13.0991	0.59210	0.0:0.6051:0.0:0.3949	.	1230;1230	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1230;1226	ENSP00000348510:R1230S	ENSP00000348510:R1230S	R	-	3	2	GTF3C1	27407059	0.001000	0.12720	0.003000	0.11579	0.175000	0.22909	-1.369000	0.02578	-0.870000	0.04047	-0.366000	0.07423	AGA		0.537	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		35	89	0	0	0	0.004878	0	35	89				
PRSS36	146547	broad.mit.edu	37	16	31157191	31157191	+	Silent	SNP	G	G	A	rs200651342		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:31157191G>A	ENST00000268281.4	-	6	697	c.639C>T	c.(637-639)ccC>ccT	p.P213P	PRSS36_ENST00000569305.1_Silent_p.P213P|PRSS36_ENST00000418068.2_Silent_p.P213P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	213	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.P213P(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGAAGGGACCGGGCTGGCTGT	0.627																																							uc002ebd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(637-639)CCC>CCT		protease, serine, 36 precursor		G		0,4394		0,0,2197	57.0	55.0	56.0		639	-4.4	0.4	16		56	1,8599		0,1,4299	no	coding-synonymous	PRSS36	NM_173502.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		213/856	31157191	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157191G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.639C>T	16.37:g.31157191G>A						PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.P213P|PRSS36_uc010vfh.1_Silent_p.P213P	p.P213P	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			6	698	-			213			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	c.639C>T	CCDS32436.1																																																																																				0.627	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		26	26	0	0	0	0.004656	0	26	26				
ITGAD	3681	broad.mit.edu	37	16	31414948	31414948	+	Missense_Mutation	SNP	C	C	A	rs144787223		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:31414948C>A	ENST00000389202.2	+	7	735	c.686C>A	c.(685-687)aCg>aAg	p.T229K	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	229	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T229K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCACGGCCACGGGCATCCTG	0.607																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(685-687)ACG>AAG		integrin, alpha D precursor							100.0	81.0	88.0					16																	31414948		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31414948C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.686C>A	16.37:g.31414948C>A	ENSP00000373854:p.Thr229Lys					ITGAD_uc010vfl.1_Missense_Mutation_p.T229K|ITGAD_uc010cap.1_Missense_Mutation_p.T229K|ITGAD_uc002ebw.1_Missense_Mutation_p.T40K	p.T229K	NM_005353	NP_005344	Q13349	ITAD_HUMAN			7	735	+			229			Extracellular (Potential).|VWFA.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.686C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348984	0.61183	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.81996	-1.56	4.7	3.63	0.41609	von Willebrand factor, type A (3);	.	.	.	.	D	0.83857	0.5345	L	0.31845	0.965	0.27381	N	0.955429	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70716	0.97;0.951;0.951	T	0.73023	-0.4113	9	0.21540	T	0.41	.	10.3165	0.43740	0.0:0.894:0.0:0.106	.	229;245;229	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	K	93;245;229	ENSP00000373854:T229K	ENSP00000323325:T93K	T	+	2	0	ITGAD	31322449	0.842000	0.29525	0.279000	0.24732	0.104000	0.19210	1.822000	0.39052	1.036000	0.39998	0.508000	0.49915	ACG		0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		27	22	1	0	7.07758e-08	0.004656	8.95148e-08	27	22				
ABCC12	94160	broad.mit.edu	37	16	48145573	48145573	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:48145573C>A	ENST00000311303.3	-	15	2470	c.2125G>T	c.(2125-2127)Gat>Tat	p.D709Y	ABCC12_ENST00000448542.1_Splice_Site_p.D709Y|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	709						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D709Y(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTCAGGATCCTGGAGACAA	0.507																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2125-2127)GAT>TAT		ATP-binding cassette protein C12							195.0	204.0	201.0					16																	48145573		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145573C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2125-1G>T	16.37:g.48145573C>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.D709Y	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			15	2471	-		all_cancers(37;0.0474)|all_lung(18;0.047)	709					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2125G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359424	0.41801	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.93859	-2.99;-3.3	5.19	5.19	0.71726	.	0.361860	0.28307	N	0.015826	D	0.93301	0.7865	M	0.80422	2.495	0.80722	D	1	B	0.22541	0.071	B	0.25987	0.065	D	0.91847	0.5488	10	0.66056	D	0.02	.	14.2008	0.65703	0.0:1.0:0.0:0.0	.	709	Q96J65	MRP9_HUMAN	Y	709;709;651	ENSP00000311030:D709Y;ENSP00000401855:D709Y	ENSP00000311030:D709Y	D	-	1	0	ABCC12	46703074	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	1.810000	0.38932	2.417000	0.82017	0.561000	0.74099	GAT		0.507	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Missense_Mutation	47	130	1	0	1.23713e-20	0.00361	2.082e-20	47	130				
SLC9A5	6553	broad.mit.edu	37	16	67298319	67298319	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:67298319T>G	ENST00000299798.11	+	13	1972	c.1907T>G	c.(1906-1908)gTc>gGc	p.V636G	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	636					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V636G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GACAAGGAGGTCTTCCAGCAG	0.587																																							uc002esm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1906-1908)GTC>GGC		solute carrier family 9 (sodium/hydrogen							29.0	36.0	34.0					16																	67298319		2175	4283	6458	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298319T>G		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1907T>G	16.37:g.67298319T>G	ENSP00000299798:p.Val636Gly					SLC9A5_uc010cee.2_Missense_Mutation_p.V341G|SLC9A5_uc010vji.1_Missense_Mutation_p.V140G	p.V636G	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	13	1970	+		Ovarian(137;0.0563)	636					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1907T>G	CCDS42178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.99|14.99	2.699104|2.699104	0.48307|0.48307	.|.	.|.	ENSG00000135740|ENSG00000135740	ENST00000360183|ENST00000299798	.|T	.|0.56776	.|0.44	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.728499	.|0.13040	.|N	.|0.418591	T|T	0.54159|0.54159	0.1841|0.1841	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.40050	.|0.7	.|B	.|0.42319	.|0.383	T|T	0.56780|0.56780	-0.7922|-0.7922	6|10	0.37606|0.66056	T|D	0.19|0.02	.|.	14.7654|14.7654	0.69634|0.69634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|636	.|Q14940	.|SL9A5_HUMAN	A|G	150|636	.|ENSP00000299798:V636G	ENSP00000353311:S150A|ENSP00000299798:V636G	S|V	+|+	1|2	0|0	SLC9A5|SLC9A5	65855820|65855820	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	7.564000|7.564000	0.82326|0.82326	2.148000|2.148000	0.66965|0.66965	0.459000|0.459000	0.35465|0.35465	TCT|GTC		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			5	25	0	0	0	0.001855	0	5	25				
NFATC3	4775	broad.mit.edu	37	16	68156481	68156481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:68156481G>T	ENST00000346183.3	+	2	719	c.695G>T	c.(694-696)gGa>gTa	p.G232V	NFATC3_ENST00000575270.1_Missense_Mutation_p.G232V|NFATC3_ENST00000329524.4_Missense_Mutation_p.G232V|NFATC3_ENST00000349223.5_Missense_Mutation_p.G232V|NFATC3_ENST00000535127.2_3'UTR|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	232	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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.G232V(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TATGGACTTGGACACTCATTA	0.557																																							uc002evo.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(694-696)GGA>GTA		nuclear factor of activated T-cells,							103.0	102.0	103.0					16																	68156481		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156481G>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.695G>T	16.37:g.68156481G>T	ENSP00000300659:p.Gly232Val					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.G232V|NFATC3_uc002evm.1_Missense_Mutation_p.G232V|NFATC3_uc002evn.1_Missense_Mutation_p.G232V|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.G232V	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	905	+		Ovarian(137;0.0563)	232			3 X SP repeats.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.695G>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085753	0.36758	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.07908	3.15;3.16;3.15	5.28	5.28	0.74379	.	0.449907	0.25735	N	0.028653	T	0.20007	0.0481	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.962;0.999;0.999	D;P;D;D	0.70935	0.971;0.704;0.971;0.971	T	0.01444	-1.1353	9	.	.	.	-5.0303	19.2666	0.93988	0.0:0.0:1.0:0.0	.	232;232;232;232	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	V	232	ENSP00000264008:G232V;ENSP00000300659:G232V;ENSP00000331324:G232V	.	G	+	2	0	NFATC3	66713982	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.442000	0.66575	2.612000	0.88384	0.563000	0.77884	GGA		0.557	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		12	45	1	0	0.00136819	0.001368	0.00146998	12	45				
HYDIN	54768	broad.mit.edu	37	16	70908242	70908242	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:70908242G>T	ENST00000393567.2	-	64	11064	c.10914C>A	c.(10912-10914)atC>atA	p.I3638I	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3638					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I3637I(1)|p.I3589I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCCTCGATGATCTCTGTGA	0.488																																							uc002ezr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(10909-10911)ATC>ATA		hydrocephalus inducing isoform a							136.0	152.0	147.0					16																	70908242		1985	4172	6157	SO:0001819	synonymous_variant	54768							g.chr16:70908242G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10914C>A	16.37:g.70908242G>T							p.I3637I	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			64	11039	-		Ovarian(137;0.0654)	3638					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.10911C>A	CCDS59269.1																																																																																				0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			15	93	1	0	0.00498961	0.00499	0.00523403	15	93				
RFWD3	55159	broad.mit.edu	37	16	74685929	74685929	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:74685929C>A	ENST00000361070.4	-	3	707	c.610G>T	c.(610-612)Gta>Tta	p.V204L	RFWD3_ENST00000571750.1_Missense_Mutation_p.V204L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	204					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V204L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TCTTCAGATACAGGATTCCTA	0.488																																							uc002fda.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(610-612)GTA>TTA		ring finger and WD repeat domain 3							100.0	94.0	96.0					16																	74685929		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74685929C>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.610G>T	16.37:g.74685929C>A	ENSP00000354361:p.Val204Leu					RFWD3_uc010cgq.2_Missense_Mutation_p.V204L	p.V204L	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			3	708	-			204					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.610G>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585568	0.03827	.	.	ENSG00000168411	ENST00000361070	T	0.17854	2.25	5.56	-0.94	0.10405	.	1.295160	0.05230	N	0.510178	T	0.12433	0.0302	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.18276	T	0.48	-17.5113	8.9763	0.35937	0.0:0.5549:0.0:0.4451	.	204	Q6PCD5	RFWD3_HUMAN	L	204	ENSP00000354361:V204L	ENSP00000354361:V204L	V	-	1	0	RFWD3	73243430	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.115000	0.15540	-0.399000	0.07668	-0.806000	0.03193	GTA		0.488	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		11	46	1	0	1.58986e-06	0.008291	1.88777e-06	11	46				
PLCG2	5336	broad.mit.edu	37	16	81888159	81888159	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:81888159A>T	ENST00000359376.3	+	3	518	c.304A>T	c.(304-306)Act>Tct	p.T102S	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	102	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T102S(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTATATGGCACTCAGTTCGT	0.493																																							uc002fgt.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(304-306)ACT>TCT		phospholipase C, gamma 2							165.0	174.0	171.0					16																	81888159		2123	4237	6360	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81888159A>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.304A>T	16.37:g.81888159A>T	ENSP00000352336:p.Thr102Ser					PLCG2_uc010chg.1_Missense_Mutation_p.T102S	p.T102S	NM_002661	NP_002652	P16885	PLCG2_HUMAN			3	456	+			102			PH.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.304A>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	5.847	0.340541	0.11069	.	.	ENSG00000197943	ENST00000359376	T	0.61980	0.06	5.78	2.08	0.27032	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.173757	0.51477	N	0.000094	T	0.32194	0.0821	N	0.03608	-0.345	0.31900	N	0.616044	B	0.14438	0.01	B	0.09377	0.004	T	0.28586	-1.0039	10	0.10377	T	0.69	.	10.1524	0.42803	0.6169:0.0:0.0:0.3831	.	102	P16885	PLCG2_HUMAN	S	102	ENSP00000352336:T102S	ENSP00000352336:T102S	T	+	1	0	PLCG2	80445660	1.000000	0.71417	0.987000	0.45799	0.115000	0.19883	1.843000	0.39259	0.060000	0.16281	0.460000	0.39030	ACT		0.493	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			54	38	0	0	0	0.00361	0	54	38				
PLCG2	5336	broad.mit.edu	37	16	81925085	81925085	+	Silent	SNP	G	G	A	rs375222873		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:81925085G>A	ENST00000359376.3	+	11	1090	c.876G>A	c.(874-876)acG>acA	p.T292T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	292					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T292T(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTTCCTCACGTACCTGTTTT	0.512																																							uc002fgt.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(874-876)ACG>ACA		phospholipase C, gamma 2							106.0	107.0	107.0					16																	81925085		2048	4198	6246	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81925085G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.876G>A	16.37:g.81925085G>A						PLCG2_uc010chg.1_Silent_p.T292T	p.T292T	NM_002661	NP_002652	P16885	PLCG2_HUMAN			11	1028	+			292					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.876G>A	CCDS42204.1																																																																																				0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			6	22	0	0	0	0.00308	0	6	22				
SLC38A8	146167	broad.mit.edu	37	16	84067060	84067060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:84067060G>T	ENST00000299709.3	-	3	402	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	135					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L135M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGCCAGACAGGAGGGAGTCA	0.682																																							uc002fhg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CTG>ATG		solute carrier family 38, member 8							29.0	35.0	33.0					16																	84067060		2200	4299	6499	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84067060G>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.403C>A	16.37:g.84067060G>T	ENSP00000299709:p.Leu135Met						p.L135M	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			3	403	-			135						Missense_Mutation	SNP	ENST00000299709.3	37	c.403C>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091204	0.07053	.	.	ENSG00000166558	ENST00000299709	T	0.02579	4.24	4.68	2.61	0.31194	.	1.386380	0.05289	N	0.520717	T	0.02807	0.0084	N	0.08118	0	0.18873	N	0.999989	P	0.52061	0.95	P	0.48840	0.592	T	0.46582	-0.9181	10	0.23891	T	0.37	.	6.6141	0.22766	0.1629:0.1561:0.681:0.0	.	135	A6NNN8	S38A8_HUMAN	M	135	ENSP00000299709:L135M	ENSP00000299709:L135M	L	-	1	2	SLC38A8	82624561	0.996000	0.38824	0.036000	0.18154	0.006000	0.05464	2.830000	0.48136	1.061000	0.40601	0.579000	0.79373	CTG		0.682	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		24	26	1	0	6.12954e-19	0.004656	1.007e-18	24	26				
ADAD2	161931	broad.mit.edu	37	16	84230345	84230345	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:84230345T>G	ENST00000315906.5	+	9	1671	c.1619T>G	c.(1618-1620)cTg>cGg	p.L540R	ADAD2_ENST00000268624.3_Missense_Mutation_p.L622R|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	540	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.L622R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCTACCTCCTGGCCTTGAAG	0.687																																							uc002fhr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1618-1620)CTG>CGG		adenosine deaminase domain containing 2 isoform							53.0	54.0	53.0					16																	84230345		2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84230345T>G	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1619T>G	16.37:g.84230345T>G	ENSP00000325153:p.Leu540Arg					ADAD2_uc002fhq.2_Missense_Mutation_p.L622R|uc002fhs.1_Intron	p.L540R	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN			9	1733	+			540			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1619T>G	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498880	0.64298	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93659	-3.26;-3.26	5.27	4.1	0.47936	Adenosine deaminase/editase (2);	0.220878	0.28307	N	0.015825	D	0.95033	0.8392	M	0.62016	1.91	0.39459	D	0.967537	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	D	0.94896	0.8052	10	0.66056	D	0.02	-18.0715	8.5228	0.33287	0.0:0.0:0.1959:0.8041	.	540;622	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	540;622	ENSP00000325153:L540R;ENSP00000268624:L622R	ENSP00000268624:L622R	L	+	2	0	ADAD2	82787846	0.992000	0.36948	0.991000	0.47740	0.755000	0.42902	2.753000	0.47524	1.975000	0.57531	0.477000	0.44152	CTG		0.687	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		9	53	0	0	0	0.004482	0	9	53				
FOXC2	2303	broad.mit.edu	37	16	86601557	86601557	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:86601557G>C	ENST00000320354.4	+	1	701	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	206					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E206Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGCCCCCAAGGAGGCCGAGAA	0.726									Late-onset Hereditary Lymphedema																														uc002fjq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GAG>CAG		forkhead box C2							7.0	10.0	9.0					16																	86601557		1975	3977	5952	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601557G>C	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.616G>C	16.37:g.86601557G>C	ENSP00000326371:p.Glu206Gln						p.E206Q	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	701	+			206					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.616G>C	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	2.595	-0.294385	0.05568	.	.	ENSG00000176692	ENST00000320354	D	0.94931	-3.56	4.54	2.5	0.30297	.	0.619360	0.10851	U	0.627197	D	0.86556	0.5961	N	0.22421	0.69	0.26105	N	0.980762	B	0.19445	0.036	B	0.12837	0.008	T	0.72516	-0.4269	10	0.14252	T	0.57	.	4.0343	0.09722	0.0886:0.1627:0.5801:0.1685	.	206	Q99958	FOXC2_HUMAN	Q	206	ENSP00000326371:E206Q	ENSP00000326371:E206Q	E	+	1	0	FOXC2	85159058	1.000000	0.71417	0.992000	0.48379	0.001000	0.01503	4.023000	0.57211	0.334000	0.23590	-0.532000	0.04303	GAG		0.726	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		6	17	0	0	0	0.00308	0	6	17				
DEF8	54849	broad.mit.edu	37	16	90032312	90032312	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:90032312C>T	ENST00000268676.7	+	13	1569	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	DEF8_ENST00000570182.1_Missense_Mutation_p.R423W|DEF8_ENST00000569453.1_Missense_Mutation_p.R433W|DEF8_ENST00000563795.1_Missense_Mutation_p.R416W|DEF8_ENST00000567874.1_Missense_Mutation_p.R373W|DEF8_ENST00000563594.1_Missense_Mutation_p.R433W	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	494					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.R494W(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAAGTGTGCCCGGCTCAGCCT	0.647																																							uc002fpn.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1480-1482)CGG>TGG		differentially expressed in FDCP 8 isoform 1							51.0	43.0	46.0					16																	90032312		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90032312C>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1480C>T	16.37:g.90032312C>T	ENSP00000268676:p.Arg494Trp					DEF8_uc002fpo.1_Missense_Mutation_p.R433W|DEF8_uc002fpp.1_Missense_Mutation_p.R423W|DEF8_uc010vpq.1_Missense_Mutation_p.R373W|DEF8_uc010vpr.1_Missense_Mutation_p.R416W|DEF8_uc002fpq.1_Missense_Mutation_p.R191W	p.R494W	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	13	1569	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	494					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.1480C>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834144	0.71373	.	.	ENSG00000140995	ENST00000268676	T	0.63580	-0.05	4.44	4.44	0.53790	.	0.161304	0.37136	N	0.002239	T	0.81389	0.4812	M	0.92122	3.275	0.49798	D	0.999825	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.998;0.999	D	0.84330	0.0521	10	0.87932	D	0	-13.7686	9.1652	0.37048	0.1617:0.6813:0.157:0.0	.	433;373;423;494	Q6ZN54-5;Q6ZN54-4;Q6ZN54-3;Q6ZN54	.;.;.;DEFI8_HUMAN	W	494	ENSP00000268676:R494W	ENSP00000268676:R494W	R	+	1	2	DEF8	88559813	0.965000	0.33210	0.998000	0.56505	0.952000	0.60782	1.983000	0.40648	2.313000	0.78055	0.561000	0.74099	CGG		0.647	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		5	17	0	0	0	0.000602	0	5	17				
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:7577100T>C	ENST00000269305.4	-	8	1027	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000420246.2_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000445888.2_Missense_Mutation_p.R280G	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CGCCGGTCTCTCCCAGGACAG	0.542		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		54	Substitution - Missense(20)|Deletion - In frame(8)|Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(5)|lung(5)|urinary_tract(4)|breast(4)|bone(4)|stomach(3)|ovary(3)|liver(3)|large_intestine(2)|oesophagus(2)|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						c.(838-840)AGA>GGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							76.0	66.0	69.0					17																	7577100		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7577100T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.838A>G	17.37:g.7577100T>C	ENSP00000269305:p.Arg280Gly	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148G|TP53_uc010cng.1_Missense_Mutation_p.R148G|TP53_uc002gii.1_Missense_Mutation_p.R148G|TP53_uc010cnh.1_Missense_Mutation_p.R280G|TP53_uc010cni.1_Missense_Mutation_p.R280G|TP53_uc002gij.2_Missense_Mutation_p.R280G	p.R280G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1032	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|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.838A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099805	0.76983	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.13	5.13	0.70059	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	0.99876	0.9941	M	0.92649	3.33	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96385	0.9284	10	0.87932	D	0	-21.0303	12.9367	0.58319	0.0:0.0:0.0:1.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	280;280;280;280;280;269;148	ENSP00000352610:R280G;ENSP00000269305:R280G;ENSP00000398846:R280G;ENSP00000391127:R280G;ENSP00000391478:R280G;ENSP00000425104:R148G	ENSP00000269305:R280G	R	-	1	2	TP53	7517825	0.650000	0.27331	1.000000	0.80357	0.981000	0.71138	0.781000	0.26774	2.154000	0.67381	0.379000	0.24179	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	6	0	0	0	0.007413	0	19	6				
USP43	124739	broad.mit.edu	37	17	9613391	9613391	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:9613391G>T	ENST00000285199.7	+	13	2226	c.2130G>T	c.(2128-2130)cgG>cgT	p.R710R	USP43_ENST00000570475.1_Silent_p.R705R|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	710	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R711R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ATCAGAAGCGGAACAGCATCC	0.542																																							uc010cod.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2128-2130)CGG>CGT		ubiquitin specific protease 43							72.0	72.0	72.0					17																	9613391		1967	4162	6129	SO:0001819	synonymous_variant	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9613391G>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2130G>T	17.37:g.9613391G>T						USP43_uc002gma.3_Silent_p.R399R|USP43_uc010vva.1_Silent_p.R705R|USP43_uc010coe.2_Silent_p.R507R|USP43_uc002gmc.3_Silent_p.R222R	p.R710R	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			13	2130	+			710					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	c.2130G>T	CCDS45610.1																																																																																				0.542	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		24	10	1	0	1.64293e-13	0.00333	2.35083e-13	24	10				
AKAP10	11216	broad.mit.edu	37	17	19861631	19861631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:19861631C>A	ENST00000225737.6	-	4	730	c.573G>T	c.(571-573)aaG>aaT	p.K191N	AKAP10_ENST00000395536.3_Missense_Mutation_p.K191N|AKAP10_ENST00000572155.1_5'Flank	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	191	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.K191N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAGTTTCATGCTTTTTAGATG	0.418																																							uc002gwo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(571-573)AAG>AAT		A-kinase anchor protein 10 precursor							63.0	63.0	63.0					17																	19861631		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861631C>A	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.573G>T	17.37:g.19861631C>A	ENSP00000225737:p.Lys191Asn					AKAP10_uc002gwp.1_Missense_Mutation_p.K191N|AKAP10_uc010cqw.1_Missense_Mutation_p.K191N|AKAP10_uc010vze.1_Missense_Mutation_p.K112N	p.K191N	NM_007202	NP_009133	O43572	AKA10_HUMAN			4	710	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		191			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.573G>T	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316059	0.10789	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.17370	2.28	6.08	1.93	0.25924	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.585417	0.20830	N	0.084915	T	0.12390	0.0301	L	0.36672	1.1	0.23254	N	0.998037	B;B;B	0.25048	0.117;0.005;0.001	B;B;B	0.27608	0.081;0.006;0.002	T	0.27054	-1.0085	10	0.25751	T	0.34	-6.6655	8.2471	0.31695	0.0:0.6233:0.0:0.3767	.	191;191;191	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	N	191	ENSP00000225737:K191N	ENSP00000225737:K191N	K	-	3	2	AKAP10	19802223	0.998000	0.40836	0.950000	0.38849	0.487000	0.33371	1.054000	0.30455	0.443000	0.26582	-0.216000	0.12614	AAG		0.418	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		27	8	1	0	8.58068e-18	0.007291	1.36631e-17	27	8				
UNC45B	146862	broad.mit.edu	37	17	33491042	33491042	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:33491042G>T	ENST00000268876.5	+	9	1105	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G	UNC45B_ENST00000394570.2_Silent_p.G336G|UNC45B_ENST00000378449.1_Silent_p.G336G|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000591048.1_Silent_p.G336G|UNC45B_ENST00000433649.1_Silent_p.G336G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	336					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G336G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTTGTGGGGCAGGTTCCAG	0.567																																							uc002hja.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1006-1008)GGG>GGT		cardiomyopathy associated 4 isoform 1							149.0	139.0	143.0					17																	33491042		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33491042G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1008G>T	17.37:g.33491042G>T						UNC45B_uc002hjb.2_Silent_p.G336G|UNC45B_uc002hjc.2_Silent_p.G336G|UNC45B_uc010cto.2_Silent_p.G336G	p.G336G	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			9	1105	+		Ovarian(249;0.17)	336					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1008G>T	CCDS11292.1																																																																																				0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		79	33	1	0	9.25274e-37	0.00361	1.73071e-36	79	33				
ERBB2	2064	broad.mit.edu	37	17	37865605	37865605	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:37865605C>T	ENST00000269571.5	+	4	633	c.474C>T	c.(472-474)aaC>aaT	p.N158N	ERBB2_ENST00000541774.1_Silent_p.N143N|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.N128N|ERBB2_ENST00000540147.1_Silent_p.N128N|ERBB2_ENST00000406381.2_Silent_p.N128N|ERBB2_ENST00000578199.1_Silent_p.N128N|ERBB2_ENST00000540042.1_Silent_p.N128N|ERBB2_ENST00000584450.1_Silent_p.N158N			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	158					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.N158N(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TCCAGCGGAACCCCCAGCTCT	0.557		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - coding silent(1)		lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(472-474)AAC>AAT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						138.0	122.0	128.0					17																	37865605		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37865605C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.474C>T	17.37:g.37865605C>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.N128N|ERBB2_uc010cwa.2_Silent_p.N143N|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Silent_p.N158N|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.N128N|ERBB2_uc002hsn.1_Silent_p.N158N	p.N158N	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	4	712	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	158			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.474C>T	CCDS32642.1																																																																																				0.557	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			21	28	0	0	0	0.010504	0	21	28				
KRT23	25984	broad.mit.edu	37	17	39092632	39092632	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:39092632G>T	ENST00000209718.3	-	2	648	c.224C>A	c.(223-225)aCc>aAc	p.T75N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	75	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.T75N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ATTCTGCATGGTGGCCTTCCC	0.617																																							uc002hvm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)ACC>AAC		keratin 23							98.0	99.0	99.0					17																	39092632		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092632G>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.224C>A	17.37:g.39092632G>T	ENSP00000209718:p.Thr75Asn					KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.T75N|KRT23_uc002hvn.1_Missense_Mutation_p.T75N	p.T75N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	813	-		Breast(137;0.000301)|Ovarian(249;0.15)	75			Rod.|Coil 1A.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.224C>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152120	0.57259	.	.	ENSG00000108244	ENST00000209718	D	0.89343	-2.5	5.56	1.01	0.19927	Filament (1);	0.224097	0.31279	N	0.007939	D	0.93798	0.8017	M	0.90483	3.12	0.54753	D	0.999987	D	0.55172	0.97	P	0.59424	0.857	D	0.93961	0.7240	10	0.87932	D	0	.	13.168	0.59581	0.1546:0.0:0.8454:0.0	.	75	Q9C075	K1C23_HUMAN	N	75	ENSP00000209718:T75N	ENSP00000209718:T75N	T	-	2	0	KRT23	36346158	0.877000	0.30153	0.751000	0.31187	0.435000	0.31806	1.913000	0.39956	0.216000	0.20781	0.544000	0.68410	ACC		0.617	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			77	24	1	0	4.18771e-30	0.00361	7.6263e-30	77	24				
KAT2A	2648	broad.mit.edu	37	17	40271406	40271406	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:40271406G>A	ENST00000225916.5	-	6	983	c.930C>T	c.(928-930)cgC>cgT	p.R310R		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	310					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.R310R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGGTTTCGTAGCGGGGGAGGC	0.587																																							uc002hyx.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(928-930)CGC>CGT		general control of amino acid synthesis 5-like							101.0	97.0	98.0					17																	40271406		2203	4300	6503	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271406G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.930C>T	17.37:g.40271406G>A							p.R310R	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			6	990	-			310					Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.930C>T	CCDS11417.1																																																																																				0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		56	22	0	0	0	0.00361	0	56	22				
MPP3	4356	broad.mit.edu	37	17	41909256	41909256	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:41909256C>G	ENST00000398389.4	-	3	184	c.19G>C	c.(19-21)Gac>Cac	p.D7H	MPP3_ENST00000398393.1_Missense_Mutation_p.D32H	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	7	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.D7H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TTACCAGAGTCCTCCGATAGC	0.617																																							uc002iei.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(19-21)GAC>CAC		palmitoylated membrane protein 3							32.0	37.0	35.0					17																	41909256		1952	4138	6090	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41909256C>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.19G>C	17.37:g.41909256C>G	ENSP00000381425:p.Asp7His					MPP3_uc002ieh.2_Missense_Mutation_p.D32H|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.D7H|MPP3_uc010wik.1_Missense_Mutation_p.D32H|MPP3_uc010czj.1_Missense_Mutation_p.D7H	p.D7H	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	3	185	-		Breast(137;0.00394)	7			L27 1.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.19G>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610843	0.87258	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.17213	2.29;2.32	5.53	5.53	0.82687	L27 (1);	.	.	.	.	T	0.20088	0.0483	N	0.19112	0.55	0.53005	D	0.999965	D;P;P	0.57899	0.981;0.939;0.939	P;P;P	0.51193	0.662;0.641;0.641	T	0.00697	-1.1605	9	0.87932	D	0	.	16.7748	0.85548	0.0:1.0:0.0:0.0	.	32;7;32	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	H	32;7;32	ENSP00000381430:D32H;ENSP00000381425:D7H	ENSP00000348885:D32H	D	-	1	0	MPP3	39264782	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.902000	0.56310	2.882000	0.98803	0.655000	0.94253	GAC		0.617	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		10	5	0	0	0	0.006214	0	10	5				
OSBPL7	114881	broad.mit.edu	37	17	45893993	45893993	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:45893993G>A	ENST00000007414.3	-	10	1055	c.864C>T	c.(862-864)acC>acT	p.T288T	OSBPL7_ENST00000392507.3_Silent_p.T288T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	288					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.T288T(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCAGCCCACGGGTGCCCGAGG	0.662																																							uc002ilx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)ACC>ACT		oxysterol-binding protein-like protein 7							27.0	30.0	29.0					17																	45893993		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45893993G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.864C>T	17.37:g.45893993G>A						OSBPL7_uc002ilw.1_5'UTR	p.T288T	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			10	1067	-			288					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.864C>T	CCDS11515.1																																																																																				0.662	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		21	4	0	0	0	0.002299	0	21	4				
KIF2B	84643	broad.mit.edu	37	17	51900573	51900573	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:51900573G>T	ENST00000268919.4	+	1	335	c.179G>T	c.(178-180)tGg>tTg	p.W60L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGGTAGAGTGGGTGGAGAAA	0.552																																							uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(178-180)TGG>TTG		kinesin family member 2B							166.0	142.0	150.0					17																	51900573		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900573G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.179G>T	17.37:g.51900573G>T	ENSP00000268919:p.Trp60Leu						p.W60L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	335	+			60					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.179G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067892	0.76301	.	.	ENSG00000141200	ENST00000268919	D	0.92858	-3.12	4.96	4.96	0.65561	.	0.000000	0.44285	D	0.000468	D	0.95548	0.8553	M	0.75150	2.29	0.44268	D	0.99712	D	0.89917	1.0	D	0.79108	0.992	D	0.95700	0.8748	10	0.87932	D	0	.	15.3998	0.74830	0.0:0.0:1.0:0.0	.	60	Q8N4N8	KIF2B_HUMAN	L	60	ENSP00000268919:W60L	ENSP00000268919:W60L	W	+	2	0	KIF2B	49255572	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.968000	0.87980	2.713000	0.92767	0.655000	0.94253	TGG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		51	14	1	0	4.86159e-25	0.00361	8.4331e-25	51	14				
MMD	23531	broad.mit.edu	37	17	53471758	53471758	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:53471758C>A	ENST00000262065.3	-	7	950	c.654G>T	c.(652-654)gtG>gtT	p.V218V		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	218					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.V218V(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGTAATGCACTGCAGCTG	0.443																																							uc002iui.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(652-654)GTG>GTT		monocyte to macrophage							115.0	111.0	112.0					17																	53471758		2203	4300	6503	SO:0001819	synonymous_variant	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471758C>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.654G>T	17.37:g.53471758C>A							p.V218V	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			7	939	-			218			Helical; (Potential).		B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	ENST00000262065.3	37	c.654G>T	CCDS11586.1																																																																																				0.443	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			62	18	1	0	6.2918e-36	0.00361	1.17334e-35	62	18				
LPO	4025	broad.mit.edu	37	17	56343529	56343529	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:56343529T>A	ENST00000262290.4	+	11	1851	c.1535T>A	c.(1534-1536)cTg>cAg	p.L512Q	LPO_ENST00000582328.1_Missense_Mutation_p.L429Q|LPO_ENST00000543544.1_Missense_Mutation_p.L453Q|LPO_ENST00000421678.2_Missense_Mutation_p.L429Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	512					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.L512Q(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATTGATCCTCTGGTGCGGGGC	0.527																																							uc002ivt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1534-1536)CTG>CAG		lactoperoxidase isoform 1 preproprotein							52.0	45.0	48.0					17																	56343529		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343529T>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1535T>A	17.37:g.56343529T>A	ENSP00000262290:p.Leu512Gln					LPO_uc010wns.1_Missense_Mutation_p.L453Q|LPO_uc010dcp.2_Missense_Mutation_p.L429Q|LPO_uc010dcq.2_Missense_Mutation_p.L183Q|LPO_uc010dcr.2_Missense_Mutation_p.L75Q	p.L512Q	NM_006151	NP_006142	P22079	PERL_HUMAN			11	1851	+			512					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1535T>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775197	0.90108	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.06	6.06	0.98353	.	0.132210	0.51477	D	0.000081	D	0.89210	0.6650	M	0.92738	3.34	0.39592	D	0.9696	D;D	0.89917	0.992;1.0	P;D	0.72075	0.841;0.976	D	0.91995	0.5606	10	0.66056	D	0.02	-20.5675	15.7966	0.78416	0.0:0.0:0.0:1.0	.	429;512	E7EMJ3;P22079	.;PERL_HUMAN	Q	512;429;453;257	ENSP00000262290:L512Q;ENSP00000400245:L429Q;ENSP00000445344:L453Q	ENSP00000262290:L512Q	L	+	2	0	LPO	53698528	0.453000	0.25721	0.998000	0.56505	0.997000	0.91878	3.968000	0.56809	2.315000	0.78130	0.533000	0.62120	CTG		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			10	4	0	0	0	0.008291	0	10	4				
SCN4A	6329	broad.mit.edu	37	17	62018356	62018356	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:62018356C>A	ENST00000435607.1	-	24	5362	c.5286G>T	c.(5284-5286)ggG>ggT	p.G1762G	SCN4A_ENST00000578147.1_Silent_p.G1762G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1762					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1762G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCGTCATCCCCGCTGCCGT	0.622																																							uc002jds.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5284-5286)GGG>GGT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						67.0	73.0	71.0					17																	62018356		2146	4239	6385	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018356C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5286G>T	17.37:g.62018356C>A							p.G1762G	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5363	-			1762					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5286G>T	CCDS45761.1																																																																																				0.622	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		33	15	1	0	7.61165e-28	0.003755	1.35829e-27	33	15				
AFMID	125061	broad.mit.edu	37	17	76198623	76198623	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:76198623C>T	ENST00000327898.5	+	3	207	c.198C>T	c.(196-198)gtC>gtT	p.V66V	AFMID_ENST00000409257.5_Silent_p.V66V|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron					arylformamidase									p.V66V(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGCTGCATGTCCCCTATGGAG	0.592																																							uc002jva.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(196-198)GTC>GTT		arylformamidase isoform 1							60.0	63.0	62.0					17																	76198623		2203	4300	6503	SO:0001819	synonymous_variant	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76198623C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.198C>T	17.37:g.76198623C>T						AFMID_uc010dhj.2_Silent_p.V66V|AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Silent_p.V66V	p.V66V	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		3	213	+			66						Silent	SNP	ENST00000327898.5	37	c.198C>T	CCDS45801.1																																																																																				0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		12	51	0	0	0	0.004007	0	12	51				
RNF213	57674	broad.mit.edu	37	17	78350335	78350335	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr17:78350335A>C	ENST00000582970.1	+	52	13563	c.13420A>C	c.(13420-13422)Acc>Ccc	p.T4474P	RNF213_ENST00000336301.6_Missense_Mutation_p.T2547P|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T4523P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4474					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T2547P(1)|p.T4523P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCCCAGCCACCATGGCGGT	0.552																																							uc002jyh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7639-7641)ACC>CCC		ring finger protein 213							43.0	43.0	43.0					17																	78350335		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78350335A>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13420A>C	17.37:g.78350335A>C	ENSP00000464087:p.Thr4474Pro					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T929P	p.T2547P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		27	7862	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7639A>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168849	0.38315	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24538	1.85	5.47	-4.37	0.03633	.	1.300510	0.05011	N	0.470921	T	0.14960	0.0361	N	0.19112	0.55	0.09310	N	1	B;B	0.29766	0.256;0.105	B;B	0.30495	0.116;0.024	T	0.26950	-1.0088	10	0.33940	T	0.23	.	6.6593	0.23004	0.4094:0.3414:0.2492:0.0	.	4523;2547	C9JCP4;Q63HN8	.;RN213_HUMAN	P	4474;4523;2547	ENSP00000338218:T2547P	ENSP00000338218:T2547P	T	+	1	0	RNF213	75964930	0.000000	0.05858	0.000000	0.03702	0.454000	0.32378	0.623000	0.24447	-0.982000	0.03515	-0.411000	0.06167	ACC		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	51	0	0	0	0.009096	0	3	51				
LAMA1	284217	broad.mit.edu	37	18	6961967	6961967	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:6961967C>A	ENST00000389658.3	-	52	7522	c.7429G>T	c.(7429-7431)Gtg>Ttg	p.V2477L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2477	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.V2477L(1)		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)				CCTTTTCTCACTCCATAGGAA	0.388																																							uc002knm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7429-7431)GTG>TTG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136.0	137.0	136.0					18																	6961967		2203	4300	6503	SO:0001583	missense	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.chr18:6961967C>A	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.7429G>T	18.37:g.6961967C>A	ENSP00000374309:p.Val2477Leu					LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.V1953L	p.V2477L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			52	7523	-		Colorectal(10;0.172)	2477			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7429G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524622	0.85600	.	.	ENSG00000101680	ENST00000389658	T	0.79141	-1.24	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.069159	0.56097	D	0.000032	D	0.89361	0.6693	M	0.87900	2.915	0.58432	D	0.999998	D	0.76494	0.999	P	0.62740	0.906	D	0.90099	0.4183	10	0.62326	D	0.03	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2477	P25391	LAMA1_HUMAN	L	2477	ENSP00000374309:V2477L	ENSP00000374309:V2477L	V	-	1	0	LAMA1	6951967	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.023000	0.64084	2.725000	0.93324	0.655000	0.94253	GTG		0.388	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		34	192	1	0	6.29468e-14	0.004878	9.15456e-14	34	192				
RALBP1	10928	broad.mit.edu	37	18	9533746	9533746	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:9533746G>T	ENST00000019317.4	+	9	1846	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	RALBP1_ENST00000383432.3_Missense_Mutation_p.E541D			Q15311	RBP1_HUMAN	ralA binding protein 1	541					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.E541D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ACTCCTCCGAGAGCGAGAGCG	0.537																																							uc002kob.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1621-1623)GAG>GAT		ralA binding protein 1							87.0	85.0	86.0					18																	9533746		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9533746G>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1623G>T	18.37:g.9533746G>T	ENSP00000019317:p.Glu541Asp					RALBP1_uc002koc.2_Missense_Mutation_p.E541D	p.E541D	NM_006788	NP_006779	Q15311	RBP1_HUMAN			9	1846	+			541					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1623G>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567829	0.13560	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09255	3.0;3.0	5.11	-5.84	0.02318	.	0.338661	0.33980	N	0.004369	T	0.02848	0.0085	N	0.02539	-0.55	0.35511	D	0.800658	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.10111	T	0.7	-7.497	11.5178	0.50532	0.1719:0.5435:0.2846:0.0	.	541	Q15311	RBP1_HUMAN	D	541	ENSP00000019317:E541D;ENSP00000372924:E541D	ENSP00000019317:E541D	E	+	3	2	RALBP1	9523746	0.960000	0.32886	0.004000	0.12327	0.754000	0.42855	0.095000	0.15127	-1.628000	0.01548	0.555000	0.69702	GAG		0.537	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		70	20	1	0	2.84776e-26	0.00361	5.00979e-26	70	20				
CCDC178	374864	broad.mit.edu	37	18	30903460	30903461	+	Missense_Mutation	DNP	GG	GG	TT	rs142817345		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:30903460_30903461GG>TT	ENST00000383096.3	-	11	1198_1199	c.1016_1017CC>AA	c.(1015-1017)gCC>gAA	p.A339E	CCDC178_ENST00000402325.1_Missense_Mutation_p.A339E|CCDC178_ENST00000583930.1_Missense_Mutation_p.A339E|CCDC178_ENST00000406524.2_Missense_Mutation_p.A339E|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.A339E|CCDC178_ENST00000300227.8_Missense_Mutation_p.A339E|CCDC178_ENST00000403303.1_Missense_Mutation_p.A339E			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	339								p.A339E(2)									CTTACTTGTAGGCCTCTATGGT	0.287																																							uc002kxn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1015-1017)GCC>GAA		hypothetical protein LOC374864 isoform 1																																				SO:0001583	missense	374864							g.chr18:30903460_30903461GG>TT	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1016_1017delinsTT	18.37:g.30903460_30903461delinsTT	ENSP00000372576:p.Ala339Glu					C18orf34_uc010xbr.1_Missense_Mutation_p.A339E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A339E|C18orf34_uc002kxp.2_Missense_Mutation_p.A339E	p.A339E	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			10	1158_1159	-			339			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	DNP	ENST00000383096.3	37	c.1016_1017CC>AA	CCDS42424.1																																																																																				0.287	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		5	17	0	0	0	0.004672	0	5	17				
ASXL3	80816	broad.mit.edu	37	18	31324221	31324221	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:31324221C>A	ENST00000269197.5	+	12	4409	c.4409C>A	c.(4408-4410)cCg>cAg	p.P1470Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1470Q(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGATCAATTCCGTGTAAAGTC	0.517											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4408-4410)CCG>CAG		additional sex combs like 3							75.0	82.0	80.0					18																	31324221		2194	4297	6491	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324221C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4409C>A	18.37:g.31324221C>A	ENSP00000269197:p.Pro1470Gln		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Missense_Mutation_p.P1177Q	p.P1470Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4464	+			1470					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4409C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730961	0.69074	.	.	ENSG00000141431	ENST00000269197	T	0.34072	1.38	6.17	6.17	0.99709	.	.	.	.	.	T	0.52693	0.1750	L	0.29908	0.895	0.50313	D	0.999861	D	0.89917	1.0	D	0.91635	0.999	T	0.50651	-0.8803	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1470	Q9C0F0	ASXL3_HUMAN	Q	1470	ENSP00000269197:P1470Q	ENSP00000269197:P1470Q	P	+	2	0	ASXL3	29578219	0.997000	0.39634	0.301000	0.25044	0.949000	0.60115	5.677000	0.68142	2.941000	0.99782	0.655000	0.94253	CCG		0.517	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			21	28	1	0	1.55795e-14	0.012319	2.29806e-14	21	28				
PIK3C3	5289	broad.mit.edu	37	18	39537583	39537583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:39537583G>T	ENST00000262039.4	+	2	203	c.117G>T	c.(115-117)ctG>ctT	p.L39L	PIK3C3_ENST00000586545.1_Silent_p.L39L|PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000398870.3_Intron	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	39	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.L39L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAGCTGTCCTGGAAGACCCAA	0.403										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(115-117)CTG>CTT		catalytic phosphatidylinositol 3-kinase 3							140.0	144.0	143.0					18																	39537583		2203	4300	6503	SO:0001819	synonymous_variant	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39537583G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.117G>T	18.37:g.39537583G>T		TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Silent_p.L39L	p.L39L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			2	175	+			39					Q15134	Silent	SNP	ENST00000262039.4	37	c.117G>T	CCDS11920.1																																																																																				0.403	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		11	19	1	0	2.80697e-09	0.010729	3.67749e-09	11	19				
ALPK2	115701	broad.mit.edu	37	18	56247074	56247074	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:56247074G>T	ENST00000361673.3	-	4	1147	c.934C>A	c.(934-936)Cca>Aca	p.P312T	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	312						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P312T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTATCTCTGGGCAAAGTTCA	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lhj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(934-936)CCA>ACA		heart alpha-kinase							113.0	112.0	112.0					18																	56247074		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247074G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.934C>A	18.37:g.56247074G>T	ENSP00000354991:p.Pro312Thr		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.P312T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	1148	-			312					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.934C>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728455	0.69074	.	.	ENSG00000198796	ENST00000361673	T	0.78246	-1.16	6.17	5.3	0.74995	.	0.215006	0.23650	N	0.045938	D	0.82829	0.5122	L	0.59436	1.845	0.28970	N	0.889281	D	0.71674	0.998	P	0.61658	0.892	T	0.78301	-0.2257	10	0.46703	T	0.11	-7.4062	10.9042	0.47071	0.1451:0.0:0.8549:0.0	.	312	Q86TB3	ALPK2_HUMAN	T	312	ENSP00000354991:P312T	ENSP00000354991:P312T	P	-	1	0	ALPK2	54398054	0.932000	0.31603	1.000000	0.80357	0.999000	0.98932	0.327000	0.19663	1.631000	0.50456	0.655000	0.94253	CCA		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		14	51	1	0	1.67942e-08	0.006122	2.15925e-08	14	51				
ZNF532	55205	broad.mit.edu	37	18	56586014	56586014	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:56586014G>T	ENST00000336078.4	+	4	1271	c.495G>T	c.(493-495)acG>acT	p.T165T	ZNF532_ENST00000589288.1_Silent_p.T165T|ZNF532_ENST00000591230.1_Silent_p.T165T|ZNF532_ENST00000591083.1_Silent_p.T165T|ZNF532_ENST00000591808.1_Silent_p.T165T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T165T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGTGTTGACGGGGTCGGCTC	0.527																																							uc002lho.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(493-495)ACG>ACT		zinc finger protein 532							106.0	107.0	106.0					18																	56586014		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586014G>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.495G>T	18.37:g.56586014G>T						ZNF532_uc002lhp.2_Silent_p.T163T|ZNF532_uc010xeg.1_Silent_p.T163T|ZNF532_uc002lhr.2_Silent_p.T163T|ZNF532_uc002lhs.2_Silent_p.T163T	p.T165T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	1042	+			165					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.495G>T	CCDS11969.1																																																																																				0.527	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		20	59	1	0	1.15919e-05	0.008871	1.3257e-05	20	59				
CDH7	1005	broad.mit.edu	37	18	63530152	63530152	+	Splice_Site	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:63530152G>C	ENST00000397968.2	+	11	2289	c.1863G>C	c.(1861-1863)ttG>ttC	p.L621F	CDH7_ENST00000536984.2_Missense_Mutation_p.L621F|RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000323011.3_Splice_Site_p.L621F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	621					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L621F(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACATTATTGGGTAGGTACT	0.498																																							uc002ljz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1861-1863)TTG>TTC		cadherin 7, type 2 preproprotein							82.0	80.0	81.0					18																	63530152		2203	4300	6503	SO:0001630	splice_region_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63530152G>C	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1864+1G>C	18.37:g.63530152G>C						CDH7_uc002lka.2_Missense_Mutation_p.L621F|CDH7_uc002lkb.2_Missense_Mutation_p.L621F	p.L621F	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			11	2188	+		Esophageal squamous(42;0.129)	621			Helical; (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1863G>C	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949180	0.34377	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62498	0.23;0.02;0.23	5.37	1.51	0.23008	.	0.000000	0.64402	D	0.000001	T	0.73241	0.3562	M	0.84773	2.715	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.69771	-0.5055	10	0.51188	T	0.08	.	0.9008	0.01273	0.2918:0.1641:0.3769:0.1671	.	621;621	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	621	ENSP00000319166:L621F;ENSP00000443030:L621F;ENSP00000381058:L621F	ENSP00000319166:L621F	L	+	3	2	CDH7	61681132	0.998000	0.40836	0.949000	0.38748	0.172000	0.22775	0.538000	0.23160	0.644000	0.30656	0.591000	0.81541	TTG		0.498	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	Missense_Mutation	10	20	0	0	0	0.010729	0	10	20				
RTTN	25914	broad.mit.edu	37	18	67684766	67684766	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:67684766C>A	ENST00000255674.6	-	46	6584	c.6298G>T	c.(6298-6300)Ggc>Tgc	p.G2100C	RTTN_ENST00000579986.1_5'Flank|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2100					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.G2100C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTAGACAGCCATCAAGCCTC	0.378																																							uc002lkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(6298-6300)GGC>TGC		rotatin							145.0	139.0	141.0					18																	67684766		1898	4134	6032	SO:0001583	missense	25914						binding	g.chr18:67684766C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6298G>T	18.37:g.67684766C>A	ENSP00000255674:p.Gly2100Cys					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.G1188C|RTTN_uc002lkn.2_Missense_Mutation_p.G90C|RTTN_uc010dqp.2_Missense_Mutation_p.G352C	p.G2100C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			46	6366	-		Esophageal squamous(42;0.129)	2100					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6298G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340569	0.81911	.	.	ENSG00000176225	ENST00000255674	T	0.58210	0.35	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70174	-0.4944	10	0.87932	D	0	.	19.8169	0.96573	0.0:1.0:0.0:0.0	.	2100	Q86VV8	RTTN_HUMAN	C	2100	ENSP00000255674:G2100C	ENSP00000255674:G2100C	G	-	1	0	RTTN	65835746	1.000000	0.71417	0.961000	0.40146	0.847000	0.48162	6.762000	0.74950	2.689000	0.91719	0.460000	0.39030	GGC		0.378	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		17	32	1	0	4.14922e-12	0.004007	5.75148e-12	17	32				
ZNF236	7776	broad.mit.edu	37	18	74607043	74607043	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:74607043G>T	ENST00000253159.8	+	10	1684	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.D498Y	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	496					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D496Y(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGCCCAGCGACCTGGTCCG	0.652																																							uc002lmi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1486-1488)GAC>TAC		zinc finger protein 236							68.0	82.0	77.0					18																	74607043		2194	4296	6490	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74607043G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1486G>T	18.37:g.74607043G>T	ENSP00000253159:p.Asp496Tyr					ZNF236_uc002lmj.2_RNA	p.D496Y	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	10	1684	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	496			C2H2-type 10.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1486G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172819	0.94807	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.19394	2.15;2.15	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21381	-1.0247	10	0.72032	D	0.01	.	18.8585	0.92264	0.0:0.0:1.0:0.0	.	496	Q9UL36	ZN236_HUMAN	Y	496	ENSP00000253159:D496Y;ENSP00000444524:D496Y	ENSP00000253159:D496Y	D	+	1	0	ZNF236	72736031	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.493000	0.97960	2.446000	0.82766	0.563000	0.77884	GAC		0.652	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			23	34	1	0	3.28513e-13	0.003954	4.66834e-13	23	34				
MFSD12	126321	broad.mit.edu	37	19	3551130	3551130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:3551130C>A	ENST00000355415.2	-	2	530	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.A121S|MFSD12_ENST00000389395.3_Missense_Mutation_p.A121S	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	121					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.A121S(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCGGGCGTGGCCGCCCCACAG	0.657																																							uc002lxz.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|pancreas(1)	2						c.(361-363)GCC>TCC		hypothetical protein LOC126321 isoform c							25.0	32.0	30.0					19																	3551130		2051	4188	6239	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3551130C>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.361G>T	19.37:g.3551130C>A	ENSP00000347583:p.Ala121Ser					C19orf28_uc002lxw.2_Missense_Mutation_p.A121S|C19orf28_uc002lxx.2_Missense_Mutation_p.A121S|C19orf28_uc002lxy.2_Missense_Mutation_p.A112S	p.A121S	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	531	-		Hepatocellular(1079;0.137)	121					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.361G>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	1.146	-0.647960	0.03506	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.86865	-2.18;-2.18;-2.18	5.13	-10.3	0.00346	Major facilitator superfamily domain, general substrate transporter (1);	1.305750	0.04613	N	0.400602	T	0.51415	0.1673	N	0.00656	-1.285	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.12156	0.004;0.003;0.007	T	0.54490	-0.8286	10	0.05721	T	0.95	-3.3738	2.3454	0.04270	0.3823:0.192:0.0677:0.358	.	121;112;121	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	S	121	ENSP00000374046:A121S;ENSP00000381566:A121S;ENSP00000347583:A121S	ENSP00000347583:A121S	A	-	1	0	C19orf28	3502130	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-1.951000	0.01529	-2.609000	0.00446	0.462000	0.41574	GCC		0.657	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		15	5	1	0	3.41278e-10	0.00499	4.56754e-10	15	5				
DUS3L	56931	broad.mit.edu	37	19	5788169	5788169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:5788169G>A	ENST00000309061.7	-	5	1057	c.961C>T	c.(961-963)Cga>Tga	p.R321*	DUS3L_ENST00000320699.8_Nonsense_Mutation_p.R79*|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	321							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.R321G(1)|p.R321*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGATCCGTCGGAAGGGCAGG	0.617																																							uc002mdc.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(961-963)CGA>TGA		dihydrouridine synthase 3-like isoform 1							45.0	46.0	46.0					19																	5788169		2203	4300	6503	SO:0001587	stop_gained	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788169G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.961C>T	19.37:g.5788169G>A	ENSP00000311977:p.Arg321*					DUS3L_uc002mdd.2_Nonsense_Mutation_p.R79*|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	p.R321*	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			5	1058	-			321					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Nonsense_Mutation	SNP	ENST00000309061.7	37	c.961C>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960195	0.92791	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	.	.	.	3.78	3.78	0.43462	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7925	8.7755	0.34758	0.0:0.0:0.7743:0.2257	.	.	.	.	X	321;79	.	ENSP00000311977:R321X	R	-	1	2	DUS3L	5739169	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	3.841000	0.55850	1.672000	0.50884	0.306000	0.20318	CGA		0.617	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		29	9	0	0	0	0.010818	0	29	9				
ACTL9	284382	broad.mit.edu	37	19	8808576	8808576	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:8808576C>T	ENST00000324436.3	-	1	596	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R159H(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TAGCTTCTCGCGGTTGGTGGC	0.667																																							uc002mkl.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(475-477)CGC>CAC		actin-like 9							39.0	42.0	41.0					19																	8808576		2201	4299	6500	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808576C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.476G>A	19.37:g.8808576C>T	ENSP00000316674:p.Arg159His						p.R159H	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	597	-			159					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.476G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026123	0.93518	.	.	ENSG00000181786	ENST00000324436	D	0.97066	-4.23	4.0	4.0	0.46444	.	0.000000	0.41194	D	0.000929	D	0.98642	0.9545	M	0.93016	3.37	0.48236	D	0.999616	D	0.89917	1.0	D	0.70227	0.968	D	0.99429	1.0935	10	0.87932	D	0	.	15.2011	0.73139	0.0:1.0:0.0:0.0	.	159	Q8TC94	ACTL9_HUMAN	H	159	ENSP00000316674:R159H	ENSP00000316674:R159H	R	-	2	0	ACTL9	8669576	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.121000	0.77160	2.254000	0.74563	0.462000	0.41574	CGC		0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		10	30	0	0	0	0.00245	0	10	30				
MUC16	94025	broad.mit.edu	37	19	9011493	9011493	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9011493G>T	ENST00000397910.4	-	36	38943	c.38740C>A	c.(38740-38742)Cct>Act	p.P12914T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12916	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P66T(1)|p.P12914T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTTCTCAGGCCTGGGGAAG	0.522																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38740-38742)CCT>ACT		mucin 16							114.0	101.0	105.0					19																	9011493		1892	4120	6012	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011493G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38739-1C>A	19.37:g.9011493G>T						MUC16_uc010xki.1_Intron	p.P12914T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			36	38944	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38740C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.575	0.880977	0.17467	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.43688	0.94	2.94	-5.88	0.02290	.	.	.	.	.	T	0.24431	0.0592	N	0.21142	0.635	.	.	.	B	0.27351	0.176	B	0.28139	0.086	T	0.26643	-1.0097	8	0.87932	D	0	-0.9724	6.7929	0.23709	0.6546:0.1464:0.1991:0.0	.	12914	B5ME49	.	T	12914;67	ENSP00000381008:P12914T	ENSP00000381008:P12914T	P	-	1	0	MUC16	8872493	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-3.870000	0.00346	-1.747000	0.01333	-1.855000	0.00564	CCT		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	54	23	1	0	6.60958e-23	0.00361	1.13699e-22	54	23				
MUC16	94025	broad.mit.edu	37	19	9049248	9049248	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9049248A>T	ENST00000397910.4	-	5	32586	c.32383T>A	c.(32383-32385)Tca>Aca	p.S10795T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10797	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S10795T(1)|p.S6428T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCATTGAGGTCACCAAC	0.493																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32383-32385)TCA>ACA		mucin 16							165.0	150.0	155.0					19																	9049248		1975	4158	6133	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049248A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32383T>A	19.37:g.9049248A>T	ENSP00000381008:p.Ser10795Thr						p.S10795T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32587	-			10797			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32383T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	8.672	0.902976	0.17760	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.61	2.61	0.31194	.	.	.	.	.	T	0.06872	0.0175	L	0.32530	0.975	.	.	.	D	0.64830	0.994	D	0.68483	0.958	T	0.17961	-1.0352	8	0.87932	D	0	.	7.1564	0.25639	1.0:0.0:0.0:0.0	.	10795	B5ME49	.	T	10795	ENSP00000381008:S10795T	ENSP00000381008:S10795T	S	-	1	0	MUC16	8910248	0.000000	0.05858	0.110000	0.21437	0.015000	0.08874	0.380000	0.20602	1.440000	0.47531	0.388000	0.25769	TCA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		76	25	0	0	0	0.00361	0	76	25				
MUC16	94025	broad.mit.edu	37	19	9062525	9062525	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:9062525G>A	ENST00000397910.4	-	3	25124	c.24921C>T	c.(24919-24921)acC>acT	p.T8307T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8309	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8307T(2)|p.T3940T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGTCTGTGGTTATCACCA	0.498																																							uc002mkp.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24919-24921)ACC>ACT		mucin 16							101.0	94.0	96.0					19																	9062525		1950	4152	6102	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062525G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24921C>T	19.37:g.9062525G>A							p.T8307T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25125	-			8309			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24921C>T	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	35	0	0	0	0.008291	0	10	35				
ATG4D	84971	broad.mit.edu	37	19	10657598	10657598	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:10657598C>T	ENST00000309469.4	+	4	750	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	193					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.R193C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGGGCCTGCCCGCTGGATGCC	0.716																																							uc002mov.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CGC>TGC		APG4 autophagy 4 homolog D							17.0	18.0	18.0					19																	10657598		2193	4286	6479	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657598C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.577C>T	19.37:g.10657598C>T	ENSP00000311318:p.Arg193Cys					ATG4D_uc010xlg.1_Missense_Mutation_p.R216C|ATG4D_uc010xlh.1_Missense_Mutation_p.R130C|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron	p.R193C	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	697	+			193					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.577C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534871	0.85812	.	.	ENSG00000130734	ENST00000309469	.	.	.	5.12	1.76	0.24704	.	0.736852	0.13331	N	0.395954	T	0.31979	0.0814	N	0.24115	0.695	0.09310	N	0.999999	P;D;P	0.71674	0.928;0.998;0.782	P;P;P	0.54815	0.717;0.761;0.601	T	0.08911	-1.0699	9	0.38643	T	0.18	-11.4652	5.8508	0.18691	0.0:0.6214:0.1374:0.2411	.	130;216;193	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	C	193	.	ENSP00000311318:R193C	R	+	1	0	ATG4D	10518598	0.000000	0.05858	0.326000	0.25389	0.947000	0.59692	-0.007000	0.12810	0.554000	0.29061	0.561000	0.74099	CGC		0.716	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		20	3	0	0	0	0.010504	0	20	3				
MAST3	23031	broad.mit.edu	37	19	18255441	18255441	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:18255441G>A	ENST00000262811.6	+	22	2663	c.2663G>A	c.(2662-2664)gGc>gAc	p.G888D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	888	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G910D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGTGGTGGCGGCAGTGGGGGC	0.677																																							uc002nhz.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|stomach(1)	5						c.(2662-2664)GGC>GAC		microtubule associated serine/threonine kinase							33.0	43.0	39.0					19																	18255441		2120	4229	6349	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255441G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2663G>A	19.37:g.18255441G>A	ENSP00000262811:p.Gly888Asp						p.G888D	NM_015016	NP_055831	O60307	MAST3_HUMAN			22	2663	+			888			Ser-rich.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2663G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	0.333	-0.954906	0.02285	.	.	ENSG00000099308	ENST00000262811	T	0.65916	-0.18	1.39	1.39	0.22231	.	.	.	.	.	T	0.35799	0.0944	N	0.14661	0.345	0.09310	N	0.999993	B	0.28760	0.221	B	0.15484	0.013	T	0.13469	-1.0508	9	0.16420	T	0.52	.	6.158	0.20348	0.0:0.0:1.0:0.0	.	888	O60307	MAST3_HUMAN	D	888	ENSP00000262811:G888D	ENSP00000262811:G888D	G	+	2	0	MAST3	18116441	.	.	0.219000	0.23793	0.074000	0.17049	.	.	1.070000	0.40811	0.436000	0.28706	GGC		0.677	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		3	50	0	0	0	0.004672	0	3	50				
ZNF98	148198	broad.mit.edu	37	19	22575523	22575523	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:22575523G>T	ENST00000357774.5	-	4	635	c.514C>A	c.(514-516)Cat>Aat	p.H172N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H172N(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTATCTTATGTCTGTTTGAA	0.299																																							uc002nqt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(514-516)CAT>AAT		zinc finger protein 98							30.0	30.0	30.0					19																	22575523		2026	4217	6243	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575523G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.514C>A	19.37:g.22575523G>T	ENSP00000350418:p.His172Asn						p.H172N	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	636	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	172						Missense_Mutation	SNP	ENST00000357774.5	37	c.514C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	5.538	0.284230	0.10513	.	.	ENSG00000197360	ENST00000357774	D	0.86865	-2.18	1.28	-2.56	0.06268	.	.	.	.	.	D	0.89259	0.6664	H	0.95114	3.625	0.09310	N	1	B	0.15930	0.015	B	0.30572	0.117	T	0.78529	-0.2169	9	0.66056	D	0.02	.	3.479	0.07595	0.2872:0.0:0.5222:0.1907	.	172	A6NK75	ZNF98_HUMAN	N	172	ENSP00000350418:H172N	ENSP00000350418:H172N	H	-	1	0	ZNF98	22367363	0.970000	0.33590	0.000000	0.03702	0.003000	0.03518	2.657000	0.46724	-1.872000	0.01136	-0.698000	0.03680	CAT		0.299	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		8	3	1	0	1.12685e-05	0.004482	1.2911e-05	8	3				
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																							uc002nrn.2		NA																	12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		4	29	0	0	0	0.001984	0	4	29				
ZNF536	9745	broad.mit.edu	37	19	31040278	31040278	+	Missense_Mutation	SNP	C	C	A	rs148378803	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:31040278C>A	ENST00000355537.3	+	4	3899	c.3752C>A	c.(3751-3753)cCg>cAg	p.P1251Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1251					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)	p.P1251Q(1)		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)					CTGCCAAAGCCGGAGCGGGGG	0.612																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3751-3753)CCG>CAG		zinc finger protein 536							17.0	19.0	18.0					19																	31040278		2194	4289	6483	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040278C>A		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.3752C>A	19.37:g.31040278C>A	ENSP00000347730:p.Pro1251Gln					ZNF536_uc010edd.1_Missense_Mutation_p.P1251Q	p.P1251Q	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3890	+	Esophageal squamous(110;0.0834)		1251					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3752C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186852	0.57909	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.18	5.18	0.71444	.	0.294993	0.38111	N	0.001812	T	0.16471	0.0396	L	0.27053	0.805	0.51482	D	0.999925	P;P	0.52842	0.911;0.956	B;P	0.52217	0.301;0.693	T	0.01262	-1.1402	10	0.59425	D	0.04	-16.8751	18.7026	0.91626	0.0:1.0:0.0:0.0	.	1251;1251	A7E228;O15090	.;ZN536_HUMAN	Q	1251	ENSP00000347730:P1251Q	ENSP00000347730:P1251Q	P	+	2	0	ZNF536	35732118	0.999000	0.42202	0.988000	0.46212	0.741000	0.42261	4.436000	0.59948	2.401000	0.81631	0.650000	0.86243	CCG		0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		17	3	1	0	3.57192e-18	0.006122	5.79155e-18	17	3				
CYP2A7	1549	broad.mit.edu	37	19	41386406	41386406	+	Silent	SNP	G	G	A	rs534396743		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:41386406G>A	ENST00000301146.4	-	3	1012	c.471C>T	c.(469-471)atC>atT	p.I157I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.I106I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662																																							uc002opm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(469-471)ATC>ATT		cytochrome P450, family 2, subfamily A,							52.0	49.0	50.0					19																	41386406		2203	4300	6503	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386406G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.471C>T	19.37:g.41386406G>A						CYP2A7_uc002opo.2_Silent_p.I157I|CYP2A7_uc002opn.2_Silent_p.I106I	p.I157I	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1013	-			157					Q13121	Silent	SNP	ENST00000301146.4	37	c.471C>T	CCDS12569.1																																																																																				0.662	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		18	18	0	0	0	0.008871	0	18	18				
PSG7	5676	broad.mit.edu	37	19	43433838	43433838	+	RNA	SNP	A	A	G	rs374884624		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:43433838A>G	ENST00000406070.2	-	0	561				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGGGGTTGAAATTGCTGCTGG	0.522																																							uc002ovl.3		NA																	0					0						c.(463-465)AAT>AAC		pregnancy specific beta-1-glycoprotein 7							171.0	172.0	172.0					19																	43433838		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43433838A>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433838A>G						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.N33N	p.N155N	NM_002783	NP_002774	Q13046	PSG7_HUMAN			4	567	-		Prostate(69;0.00682)	155			Ig-like C2-type 1.		Q15232	Silent	SNP	ENST00000406070.2	37	c.465T>C																																																																																					0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		127	31	0	0	0	0.00361	0	127	31				
ZNF229	7772	broad.mit.edu	37	19	44934092	44934092	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:44934092C>A	ENST00000588931.1	-	6	1297	c.864G>T	c.(862-864)ttG>ttT	p.L288F	ZNF229_ENST00000291187.4_Missense_Mutation_p.L282F|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L288F(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTTTCTCTTTCAAAGGTACTC	0.448																																							uc002oze.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(862-864)TTG>TTT		zinc finger protein 229							61.0	59.0	60.0					19																	44934092		1923	4132	6055	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934092C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.864G>T	19.37:g.44934092C>A	ENSP00000466519:p.Leu288Phe					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.L282F	p.L288F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	1298	-		Prostate(69;0.0352)	288					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.864G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431327	0.25813	.	.	ENSG00000167383	ENST00000291187	.	.	.	4.07	-3.56	0.04626	.	.	.	.	.	T	0.14570	0.0352	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26608	-1.0098	8	0.87932	D	0	.	0.1068	0.00053	0.3145:0.1699:0.1805:0.3351	.	288	Q9UJW7	ZN229_HUMAN	F	288	.	ENSP00000291187:L288F	L	-	3	2	ZNF229	49625932	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.985000	0.01485	-0.133000	0.11537	-0.316000	0.08728	TTG		0.448	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		48	6	1	0	2.64894e-19	0.00361	4.38665e-19	48	6				
DKKL1	27120	broad.mit.edu	37	19	49877992	49877992	+	Missense_Mutation	SNP	A	A	G	rs372599135|rs371537751	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:49877992A>G	ENST00000221498.2	+	5	841	c.436A>G	c.(436-438)Aag>Gag	p.K146E	DKKL1_ENST00000594268.1_Missense_Mutation_p.K4E|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	146					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)	p.K146E(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GATGGAGGAGAAGGAGGCCCT	0.592													A|||	2	0.000399361	0.0	0.0	5008	,	,		17181	0.001		0.0	False		,,,				2504	0.001						uc002pnk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AAG>GAG		dickkopf-like 1 precursor		A	GLU/LYS,GLU/LYS,GLU/LYS	0,4406		0,0,2203	47.0	47.0	47.0		343,211,436	3.5	1.0	19		47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DKKL1	NM_001197301.1,NM_001197302.1,NM_014419.3	56,56,56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	115/212,71/168,146/243	49877992	1,13005	2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49877992A>G	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.436A>G	19.37:g.49877992A>G	ENSP00000221498:p.Lys146Glu						p.K146E	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	650	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	146						Missense_Mutation	SNP	ENST00000221498.2	37	c.436A>G	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149677	0.57151	0.0	1.16E-4	ENSG00000104901	ENST00000221498	T	0.14640	2.49	4.53	3.52	0.40303	.	0.144769	0.32357	N	0.006201	T	0.13841	0.0335	L	0.57536	1.79	0.29856	N	0.828024	B	0.28998	0.23	B	0.31101	0.124	T	0.07908	-1.0748	10	0.42905	T	0.14	-25.9608	6.8312	0.23911	0.8948:0.0:0.1052:0.0	.	146	Q9UK85	DKKL1_HUMAN	E	146	ENSP00000221498:K146E	ENSP00000221498:K146E	K	+	1	0	DKKL1	54569804	1.000000	0.71417	0.997000	0.53966	0.561000	0.35649	1.733000	0.38156	0.898000	0.36418	0.533000	0.62120	AAG		0.592	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		37	21	0	0	0	0.007835	0	37	21				
GPR32	2854	broad.mit.edu	37	19	51274608	51274608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:51274608G>T	ENST00000270590.4	+	1	888	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	251					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A251S(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGGTCCATGCCAACCGGCC	0.617																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(751-753)GCC>TCC		G protein-coupled receptor 32							52.0	57.0	55.0					19																	51274608		2203	4298	6501	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274608G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.751G>T	19.37:g.51274608G>T	ENSP00000270590:p.Ala251Ser						p.A251S	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	751	+		all_neural(266;0.131)	251			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.751G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.205324	0.00292	.	.	ENSG00000142511	ENST00000270590	T	0.71341	-0.56	2.56	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.32315	0.0825	N	0.01800	-0.715	0.09310	N	1	B	0.18310	0.027	B	0.22152	0.038	T	0.36696	-0.9737	9	0.02654	T	1	.	2.5506	0.04748	0.2695:0.0:0.3804:0.3502	.	251	O75388	GPR32_HUMAN	S	251	ENSP00000270590:A251S	ENSP00000270590:A251S	A	+	1	0	GPR32	55966420	0.002000	0.14202	0.000000	0.03702	0.357000	0.29423	0.606000	0.24194	-0.032000	0.13758	0.313000	0.20887	GCC		0.617	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			29	12	1	0	2.81731e-10	0.010818	3.77873e-10	29	12				
HAS1	3036	broad.mit.edu	37	19	52222568	52222568	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:52222568G>T	ENST00000222115.1	-	2	627	c.593C>A	c.(592-594)gCg>gAg	p.A198E	HAS1_ENST00000594621.1_Missense_Mutation_p.A52E|HAS1_ENST00000540069.2_Missense_Mutation_p.A197E|HAS1_ENST00000601714.1_Missense_Mutation_p.A205E	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	198					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.A198E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTCACCAGCGCCTCCACTGC	0.711																																					NSCLC(132;636 2450 45807 47979)	NSCLC(132;636 2450 45807 47979)	uc002pxo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(592-594)GCG>GAG		hyaluronan synthase 1							23.0	23.0	23.0					19																	52222568		2201	4289	6490	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52222568G>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.593C>A	19.37:g.52222568G>T	ENSP00000222115:p.Ala198Glu					HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Missense_Mutation_p.A163E|HAS1_uc002pxn.1_Missense_Mutation_p.A205E|HAS1_uc002pxp.1_Missense_Mutation_p.A197E	p.A198E	NM_001523	NP_001514	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	628	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	198			Cytoplasmic (Potential).		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.593C>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	0.644	-0.812127	0.02798	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.28666	1.6;1.6	3.79	3.79	0.43588	.	0.552387	0.16977	N	0.191850	T	0.08358	0.0208	N	0.00801	-1.175	0.28651	N	0.906661	B;B;B	0.17465	0.018;0.022;0.022	B;B;B	0.20577	0.018;0.03;0.03	T	0.26985	-1.0087	10	0.02654	T	1	.	9.0362	0.36289	0.0:0.0:0.7795:0.2205	.	197;198;197	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	E	197;198;52;52	ENSP00000445021:A197E;ENSP00000222115:A198E	ENSP00000222115:A198E	A	-	2	0	HAS1	56914380	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.542000	0.45744	1.812000	0.52913	0.423000	0.28283	GCG		0.711	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		10	4	1	0	4.68919e-08	0.008291	5.96719e-08	10	4				
ZNF665	79788	broad.mit.edu	37	19	53669454	53669454	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:53669454C>G	ENST00000600412.1	-	2	209	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.D97H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D97H(1)|p.D32H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACTCAAAGTCGTATGTATTT	0.403																																							uc010eqm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(289-291)GAC>CAC		zinc finger protein 665							171.0	168.0	169.0					19																	53669454		1927	4136	6063	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669454C>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.94G>C	19.37:g.53669454C>G	ENSP00000469154:p.Asp32His						p.D97H	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	389	-			32					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.289G>C		.	.	.	.	.	.	.	.	.	.	C	10.50	1.366610	0.24771	.	.	ENSG00000197497	ENST00000396424	T	0.10099	2.91	2.55	-1.36	0.09085	.	.	.	.	.	T	0.11537	0.0281	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	P	0.60949	0.881	T	0.21211	-1.0252	9	0.51188	T	0.08	.	2.7533	0.05287	0.0:0.4159:0.2536:0.3305	.	97	Q9H7R5-2	.	H	97	ENSP00000379702:D97H	ENSP00000379702:D97H	D	-	1	0	ZNF665	58361266	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	0.304000	0.19228	0.006000	0.14734	-0.300000	0.09419	GAC		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		115	32	0	0	0	0.00361	0	115	32				
CACNG8	59283	broad.mit.edu	37	19	54485474	54485474	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:54485474G>C	ENST00000270458.2	+	4	752	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	217					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E217Q(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATCCTGGCCGAGGTGATAGG	0.672																																							uc002qcs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GAG>CAG		voltage-dependent calcium channel gamma-8							55.0	40.0	45.0					19																	54485474		2202	4299	6501	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54485474G>C	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.649G>C	19.37:g.54485474G>C	ENSP00000270458:p.Glu217Gln					MIR935_hsa-mir-935|MI0005757_5'Flank	p.E216Q	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	4	752	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		217			Helical; (Potential).		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.646G>C	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.415225	0.83449	.	.	ENSG00000142408	ENST00000270458	D	0.89196	-2.48	1.91	1.91	0.25777	.	0.000000	0.64402	U	0.000009	D	0.93360	0.7883	M	0.88310	2.945	0.33133	D	0.543315	P	0.50156	0.932	P	0.61003	0.882	D	0.94901	0.8056	9	0.72032	D	0.01	-14.8667	9.4671	0.38820	0.0:0.0:1.0:0.0	.	217	Q8WXS5	CCG8_HUMAN	Q	217	ENSP00000270458:E217Q	ENSP00000270458:E217Q	E	+	1	0	CACNG8	59177286	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.647000	0.67923	1.062000	0.40625	0.289000	0.19496	GAG		0.672	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			17	1	0	0	0	0.00499	0	17	1				
LILRB5	10990	broad.mit.edu	37	19	54760174	54760174	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:54760174C>A	ENST00000316219.5	-	4	494	c.387G>T	c.(385-387)ctG>ctT	p.L129L	LILRB5_ENST00000449561.2_Silent_p.L129L|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Silent_p.L120L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	129	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.L120L(1)|p.L129L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGACTCGGCAGGGCTAAAA	0.552																																							uc002qex.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(385-387)CTG>CTT		leukocyte immunoglobulin-like receptor,							69.0	75.0	73.0					19																	54760174		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760174C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.387G>T	19.37:g.54760174C>A						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.L120L|LILRB5_uc002qey.2_Silent_p.L129L|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron	p.L129L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	498	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		129			Extracellular (Potential).|Ig-like C2-type 2.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.387G>T	CCDS12885.1																																																																																				0.552	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			45	10	1	0	3.70713e-34	0.00361	6.83124e-34	45	10				
KIR2DL3	3804	broad.mit.edu	37	19	55263202	55263202	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:55263202A>T	ENST00000342376.3	+	6	848	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	273					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.K273*(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGCAACAAAAAAAGTAAGTC	0.532																																							uc002qgv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(817-819)AAA>TAA		killer cell immunoglobulin-like receptor, two							80.0	63.0	69.0					19																	55263202		1368	2494	3862	SO:0001587	stop_gained	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55263202A>T	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.817A>T	19.37:g.55263202A>T	ENSP00000342215:p.Lys273*					KIR2DL3_uc002qgx.2_Nonsense_Mutation_p.K273*|KIR2DL3_uc002qgy.2_Nonsense_Mutation_p.K175*|KIR2DL3_uc010erw.1_Nonsense_Mutation_p.K273*|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.K273*	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	835	+			273			Cytoplasmic (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Nonsense_Mutation	SNP	ENST00000342376.3	37	c.817A>T	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713330	0.30413	.	.	ENSG00000243772	ENST00000342376	.	.	.	0.635	0.635	0.17723	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	273	.	ENSP00000342215:K273X	K	+	1	0	KIR2DL3	59955014	0.030000	0.19436	0.070000	0.20053	0.018000	0.09664	-0.220000	0.09215	0.516000	0.28340	0.248000	0.18094	AAA		0.532	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			28	11	0	0	0	0.007291	0	28	11				
DNAAF3	352909	broad.mit.edu	37	19	55671298	55671298	+	Missense_Mutation	SNP	C	C	A	rs200611170		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:55671298C>A	ENST00000524407.2	-	10	1165	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	DNAAF3_ENST00000455045.1_Missense_Mutation_p.G324C|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G425C|DNAAF3_ENST00000527223.2_Missense_Mutation_p.G445C|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.R39L|TNNI3_ENST00000344887.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	378					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.G425C(1)									TGGAATCGGCCGTTGTAGCAG	0.627																																							uc002qji.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)GGC>TGC		RecName: Full=UPF0470 protein C19orf51;							57.0	67.0	64.0					19																	55671298		2059	4203	6262	SO:0001583	missense	352909							g.chr19:55671298C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1132G>T	19.37:g.55671298C>A	ENSP00000432046:p.Gly378Cys					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.G193C|C19orf51_uc002qjj.1_Missense_Mutation_p.G425C|C19orf51_uc002qjk.1_Missense_Mutation_p.G324C|C19orf51_uc002qjl.1_Missense_Mutation_p.G445C	p.G378C			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1166	-			378					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1132G>T	CCDS59422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477885|3.477885	0.63849|0.63849	.|.	.|.	ENSG00000167646|ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720|ENST00000530077	T;T|.	0.18016|.	2.24;2.24|.	4.59|4.59	2.31|2.31	0.28768|0.28768	.|.	0.272655|.	0.33631|.	N|.	0.004714|.	T|T	0.46795|0.46795	0.1411|0.1411	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999|.	D;D;D;D|.	0.77557|.	0.966;0.916;0.99;0.938|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|5	0.66056|.	D|.	0.02|.	-20.5174|-20.5174	5.8194|5.8194	0.18518|0.18518	0.0:0.5813:0.3097:0.109|0.0:0.5813:0.3097:0.109	.|.	445;324;398;378|.	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5|.	.;.;.;CS051_HUMAN|.	C|L	445;324;425|35	ENSP00000394343:G324C;ENSP00000375600:G425C|.	ENSP00000301249:G445C|.	G|R	-|-	1|2	0|0	C19orf51|C19orf51	60363110|60363110	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.929000|0.929000	0.56500|0.56500	1.240000|1.240000	0.32731|0.32731	2.291000|2.291000	0.77112|0.77112	0.585000|0.585000	0.79938|0.79938	GGC|CGG		0.627	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		26	11	1	0	2.61193e-14	0.009535	3.83454e-14	26	11				
ZIM2	23619	broad.mit.edu	37	19	57286128	57286128	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:57286128G>A	ENST00000391708.3	-	12	2054	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ZIM2_ENST00000601070.1_Silent_p.G504G|ZIM2_ENST00000221722.5_Silent_p.G504G|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Silent_p.G504G|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Silent_p.G504G|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	504					regulation of transcription, DNA-templated (GO:0006355)|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)	p.G504G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ATGAGGGTCGGCCGAAACATT	0.438																																							uc002qnr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1510-1512)GGC>GGT		zinc finger, imprinted 2							111.0	103.0	106.0					19																	57286128		2203	4300	6503	SO:0001819	synonymous_variant	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286128G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1512C>T	19.37:g.57286128G>A						uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.G300G|ZIM2_uc010ygr.1_Silent_p.G300G|ZIM2_uc002qnq.2_Silent_p.G504G|ZIM2_uc010etp.2_Silent_p.G504G|ZIM2_uc010ygs.1_Silent_p.G504G	p.G504G	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1894	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	504			C2H2-type 5.		Q2M3K1	Silent	SNP	ENST00000391708.3	37	c.1512C>T	CCDS33123.1																																																																																				0.438	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			37	13	0	0	0	0.004289	0	37	13				
ZNF416	55659	broad.mit.edu	37	19	58084849	58084849	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58084849C>T	ENST00000196489.3	-	4	645	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K141K(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CACTATGATGCTTCTGGTCCT	0.517																																							uc002qpf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(421-423)AAG>AAA		zinc finger protein 416							105.0	86.0	92.0					19																	58084849		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084849C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.423G>A	19.37:g.58084849C>T						ZNF547_uc002qpm.3_Intron	p.K141K	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	594	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	141					Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.423G>A	CCDS12954.1																																																																																				0.517	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		24	6	0	0	0	0.003954	0	24	6				
ZNF671	79891	broad.mit.edu	37	19	58238788	58238788	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58238788G>C	ENST00000317398.6	-	1	204	c.109C>G	c.(109-111)Cct>Gct	p.P37A	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.P37A|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P37A(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCGCCATAGGACCGTGGGCG	0.687																																							uc002qpz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)CCT>GCT		zinc finger protein 671							25.0	28.0	27.0					19																	58238788		2200	4297	6497	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238788G>C		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.109C>G	19.37:g.58238788G>C	ENSP00000321848:p.Pro37Ala					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	p.P37A	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	208	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	37					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.109C>G	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443629	0.12164	.	.	ENSG00000083814	ENST00000317398	T	0.05139	3.49	1.39	-2.47	0.06442	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.20307	N	0.999916	B	0.23854	0.092	B	0.14578	0.011	T	0.46148	-0.9212	9	0.08837	T	0.75	.	2.6873	0.05111	0.3773:0.258:0.3647:0.0	.	37	Q8TAW3	ZN671_HUMAN	A	37	ENSP00000321848:P37A	ENSP00000321848:P37A	P	-	1	0	ZNF671	62930600	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-0.674000	0.05253	-0.350000	0.07774	CCT		0.687	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		15	3	0	0	0	0.006122	0	15	3				
ZNF497	162968	broad.mit.edu	37	19	58867550	58867550	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr19:58867550G>A	ENST00000311044.3	-	3	1640	c.1452C>T	c.(1450-1452)aaC>aaT	p.N484N	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Silent_p.N484N|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N484N(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTCGTTGAGGTTGCAACGGT	0.701																																							uc002qsh.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1450-1452)AAC>AAT		zinc finger protein 497							17.0	19.0	18.0					19																	58867550		2189	4265	6454	SO:0001819	synonymous_variant	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867550G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1452C>T	19.37:g.58867550G>A						A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.N484N|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	p.N484N	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1641	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	484			C2H2-type 14.		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	ENST00000311044.3	37	c.1452C>T	CCDS12977.1																																																																																				0.701	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		10	6	0	0	0	0.010729	0	10	6				
PXDN	7837	broad.mit.edu	37	2	1667392	1667392	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:1667392T>A	ENST00000252804.4	-	12	1602	c.1552A>T	c.(1552-1554)Act>Tct	p.T518S	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	518	Ig-like C2-type 3.				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)	p.T518S(1)		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)		GGCTGCACAGTCAGGTGGGCC	0.532																																							uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(1552-1554)ACT>TCT		peroxidasin precursor							86.0	93.0	91.0					2																	1667392		2028	4158	6186	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.chr2:1667392T>A	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.1552A>T	2.37:g.1667392T>A	ENSP00000252804:p.Thr518Ser					PXDN_uc002qxb.1_Missense_Mutation_p.T518S	p.T518S	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)	12	1616	-	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)	518			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1552A>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.49|15.49	2.848177|2.848177	0.51164|0.51164	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68025|.	-0.3|.	5.79|5.79	4.61|4.61	0.57282|0.57282	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.355310|.	0.32952|.	N|.	0.005452|.	T|.	0.59582|.	0.2204|.	L|L	0.45581|0.45581	1.43|1.43	0.41269|0.41269	D|D	0.986835|0.986835	B;B|.	0.23058|.	0.079;0.014|.	B;B|.	0.24006|.	0.05;0.034|.	T|.	0.56038|.	-0.8045|.	10|.	0.27082|.	T|.	0.32|.	-21.5257|-21.5257	12.977|12.977	0.58542|0.58542	0.0:0.0:0.1351:0.8649|0.0:0.0:0.1351:0.8649	.|.	518;518|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	S|C	518|513	ENSP00000252804:T518S|.	ENSP00000252804:T518S|.	T|X	-|-	1|3	0|0	PXDN|PXDN	1646399|1646399	1.000000|1.000000	0.71417|0.71417	0.800000|0.800000	0.32199|0.32199	0.753000|0.753000	0.42808|0.42808	2.960000|2.960000	0.49161|0.49161	0.984000|0.984000	0.38629|0.38629	0.533000|0.533000	0.62120|0.62120	ACT|TGA		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		42	36	0	0	0	0.00361	0	42	36				
APOB	338	broad.mit.edu	37	2	21229598	21229598	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:21229598A>G	ENST00000233242.1	-	26	10269	c.10142T>C	c.(10141-10143)tTa>tCa	p.L3381S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3381	LDL receptor binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L3381S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCCTCTAATTTGTACTG	0.408																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10141-10143)TTA>TCA		apolipoprotein B precursor	Atorvastatin(DB01076)						123.0	120.0	121.0					2																	21229598		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229598A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10142T>C	2.37:g.21229598A>G	ENSP00000233242:p.Leu3381Ser						p.L3381S	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10270	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3381			LDL receptor binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10142T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.776835	0.70107	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38722	1.12	5.63	5.63	0.86233	.	0.135740	0.33553	N	0.004795	T	0.68485	0.3006	M	0.92691	3.335	0.80722	D	1	D	0.56968	0.978	P	0.56916	0.809	T	0.77993	-0.2378	10	0.87932	D	0	.	15.8418	0.78852	1.0:0.0:0.0:0.0	.	3381	P04114	APOB_HUMAN	S	3381	ENSP00000233242:L3381S	ENSP00000233242:L3381S	L	-	2	0	APOB	21083103	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.335000	0.96500	2.127000	0.65507	0.533000	0.62120	TTA		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			58	61	0	0	0	0.00361	0	58	61				
BRE	9577	broad.mit.edu	37	2	28521328	28521329	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:28521328_28521329GG>TT	ENST00000342045.2	+	12	1199_1200	c.1058_1059GG>TT	c.(1057-1059)tGG>tTT	p.W353F	BRE_ENST00000379624.1_Missense_Mutation_p.W353F|BRE_ENST00000361704.2_Missense_Mutation_p.W353F|BRE_ENST00000344773.2_Missense_Mutation_p.W353F|BRE_ENST00000379632.2_Missense_Mutation_p.W353F	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.W353F(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGCCCCAGATGGGATGGAAATG	0.441																																							uc002rlr.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(1)|kidney(1)|skin(1)	3						c.(1057-1059)TGG>TTT		brain and reproductive organ-expressed (TNFRSF1A																																				SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521328_28521329GG>TT	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	Exception_encountered	2.37:g.28521328_28521329delinsTT	ENSP00000339371:p.Trp353Phe					BRE_uc002rlp.1_Missense_Mutation_p.W353F|BRE_uc002rlq.2_Missense_Mutation_p.W353F|BRE_uc002rls.2_Missense_Mutation_p.W353F|BRE_uc002rlt.2_Missense_Mutation_p.W353F|BRE_uc002rlu.2_Missense_Mutation_p.W353F|BRE_uc002rlv.2_Missense_Mutation_p.W215F|BRE_uc002rlx.2_RNA	p.W353F	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			12	1376_1377	+	Acute lymphoblastic leukemia(172;0.155)		353			UEV-like 2.			Missense_Mutation	DNP	ENST00000342045.2	37	c.1058_1059GG>TT	CCDS1763.1																																																																																				0.441	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			43	46	0	0	0	0.004672	0	43	46				
BIRC6	57448	broad.mit.edu	37	2	32836633	32836633	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:32836633A>G	ENST00000421745.2	+	73	14512	c.14378A>G	c.(14377-14379)cAt>cGt	p.H4793R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4793					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.H4765R(1)|p.H4793R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTCTCACCATGCAGCAGCT	0.458																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14377-14379)CAT>CGT		baculoviral IAP repeat-containing 6							120.0	99.0	106.0					2																	32836633		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32836633A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14378A>G	2.37:g.32836633A>G	ENSP00000393596:p.His4793Arg						p.H4793R	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			73	14512	+	Acute lymphoblastic leukemia(172;0.155)		4793					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.14378A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839194	0.51057	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	4.76	4.76	0.60689	Ubiquitin-conjugating enzyme/RWD-like (1);	0.110656	0.64402	D	0.000009	T	0.79834	0.4514	L	0.51422	1.61	0.80722	D	1	P	0.50819	0.939	P	0.57283	0.817	T	0.81918	-0.0713	10	0.66056	D	0.02	.	14.3	0.66341	1.0:0.0:0.0:0.0	.	4793	Q9NR09	BIRC6_HUMAN	R	4793	ENSP00000393596:H4793R	ENSP00000393596:H4793R	H	+	2	0	BIRC6	32690137	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.252000	0.95491	1.764000	0.52075	0.454000	0.30748	CAT		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		8	17	0	0	0	0.006214	0	8	17				
PREPL	9581	broad.mit.edu	37	2	44553863	44553863	+	Silent	SNP	C	C	A	rs140525819		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:44553863C>A	ENST00000409936.1	-	11	2171	c.1734G>T	c.(1732-1734)gcG>gcT	p.A578A	PREPL_ENST00000410081.1_Silent_p.A578A|PREPL_ENST00000378520.3_Silent_p.A512A|PREPL_ENST00000409272.1_Silent_p.A578A|PREPL_ENST00000409957.1_Silent_p.A489A|PREPL_ENST00000409411.1_Silent_p.A489A|PREPL_ENST00000378511.3_Silent_p.A516A|PREPL_ENST00000260648.6_Silent_p.A578A|PREPL_ENST00000541738.1_Silent_p.A489A	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	578						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A578A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCAAAGTCACCGCTCTCACCA	0.483																																							uc002ruf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1732-1734)GCG>GCT		prolyl endopeptidase-like isoform C							95.0	89.0	91.0					2																	44553863		2203	4300	6503	SO:0001819	synonymous_variant	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44553863C>A	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1734G>T	2.37:g.44553863C>A						PREPL_uc002rug.2_Silent_p.A512A|PREPL_uc002ruh.2_Silent_p.A516A|PREPL_uc010fax.2_Silent_p.A578A|PREPL_uc002rui.3_Silent_p.A489A|PREPL_uc002ruj.1_Silent_p.A489A|PREPL_uc002ruk.1_Silent_p.A578A	p.A578A	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			10	1769	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	578					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	c.1734G>T	CCDS33190.1																																																																																				0.483	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		18	54	1	0	5.26018e-13	0.012319	7.42402e-13	18	54				
MCFD2	90411	broad.mit.edu	37	2	47136246	47136246	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:47136246G>A	ENST00000409105.1	-	3	244	c.65C>T	c.(64-66)cCa>cTa	p.P22L	MCFD2_ENST00000409207.1_Missense_Mutation_p.P22L|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.P22L|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.P22L|MCFD2_ENST00000409218.1_Missense_Mutation_p.P22L|MCFD2_ENST00000444761.2_Intron	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	22					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.P22L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CCTGGCGCCTGGGGCACAAAA	0.582																																							uc002rvk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(64-66)CCA>CTA		multiple coagulation factor deficiency 2	Antihemophilic Factor(DB00025)						44.0	46.0	45.0					2																	47136246		2203	4300	6503	SO:0001583	missense	90411				post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding	g.chr2:47136246G>A	AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.65C>T	2.37:g.47136246G>A	ENSP00000386651:p.Pro22Leu					MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.P20L|MCFD2_uc010yof.1_Intron	p.P22L	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		2	159	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	22					A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	37	c.65C>T	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553605	0.03996	.	.	ENSG00000180398	ENST00000409105;ENST00000319466;ENST00000409207;ENST00000409973;ENST00000409218;ENST00000412438;ENST00000417180	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.36	-0.448	0.12230	.	0.885835	0.10038	N	0.723893	T	0.67832	0.2935	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49872	-0.8893	10	0.22109	T	0.4	-7.3888	5.2741	0.15639	0.4437:0.0:0.4217:0.1346	.	22	Q8NI22	MCFD2_HUMAN	L	22	ENSP00000386651:P22L;ENSP00000317271:P22L;ENSP00000386386:P22L;ENSP00000386279:P22L;ENSP00000386261:P22L;ENSP00000402717:P22L	ENSP00000317271:P22L	P	-	2	0	MCFD2	46989750	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	0.315000	0.19451	0.014000	0.14944	-0.314000	0.08810	CCA		0.582	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279		11	30	0	0	0	0.001368	0	11	30				
PPP1R21	129285	broad.mit.edu	37	2	48688331	48688331	+	Silent	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:48688331C>G	ENST00000294952.8	+	7	811	c.654C>G	c.(652-654)tcC>tcG	p.S218S	PPP1R21_ENST00000449090.2_Silent_p.S218S|PPP1R21_ENST00000281394.4_Silent_p.S218S	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	218						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.S218S(2)		endometrium(2)|kidney(4)|lung(9)	15						TAGAGGAATCCTTATCAATCA	0.308																																							uc002rwm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(652-654)TCC>TCG		KLRAQ motif containing 1 isoform 1							73.0	77.0	76.0					2																	48688331		2202	4299	6501	SO:0001819	synonymous_variant	129285							g.chr2:48688331C>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.654C>G	2.37:g.48688331C>G						KLRAQ1_uc002rwi.1_Silent_p.S218S|KLRAQ1_uc002rwj.2_Silent_p.S218S|KLRAQ1_uc002rwl.2_Silent_p.S172S|KLRAQ1_uc002rwk.2_Silent_p.S218S|KLRAQ1_uc010yok.1_Silent_p.S218S	p.S218S	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			7	839	+			218					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	ENST00000294952.8	37	c.654C>G	CCDS46278.1																																																																																				0.308	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		18	29	0	0	0	0.007413	0	18	29				
GTF2A1L	11036	broad.mit.edu	37	2	48898788	48898788	+	Missense_Mutation	SNP	C	C	T	rs567322233		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:48898788C>T	ENST00000403751.3	+	8	1335	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1137M|LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1090M|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T399M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1137M|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T1137M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1137M	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	433					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.T82M(2)|p.T1137M(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGTTTGACACGGATAATGTT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		21884	0.001		0.0	False		,,,				2504	0.0						uc010yol.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(3268-3270)ACG>ATG		stonin 1							240.0	227.0	231.0					2																	48898788		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48898788C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1298C>T	2.37:g.48898788C>T	ENSP00000384597:p.Thr433Met					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.T1137M|GTF2A1L_uc002rws.1_Missense_Mutation_p.T433M|GTF2A1L_uc010yom.1_Missense_Mutation_p.T399M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.T433M	p.T1090M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3316	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1090					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3269C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136321	0.77662	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	6.09	4.28	0.50868	Transcription factor IIA, beta-barrel (2);	0.058016	0.64402	D	0.000002	T	0.55847	0.1946	M	0.81112	2.525	0.80722	D	1	D;P;D;P;P	0.63046	0.99;0.852;0.992;0.893;0.944	B;B;P;B;P	0.48677	0.356;0.14;0.488;0.255;0.586	T	0.59931	-0.7361	10	0.54805	T	0.06	.	10.3565	0.43967	0.135:0.7949:0.0:0.0701	.	399;1090;1137;433;1137	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	M	1137;1137;1137;1137;1090;432;399;433;82	ENSP00000385499:T1137M;ENSP00000385701:T1137M;ENSP00000378236:T1137M;ENSP00000311493:T1137M;ENSP00000378234:T1090M;ENSP00000387896:T399M;ENSP00000384597:T433M;ENSP00000421474:T82M	ENSP00000384597:T433M	T	+	2	0	STON1-GTF2A1L;GTF2A1L	48752292	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	5.698000	0.68302	0.883000	0.36040	0.655000	0.94253	ACG		0.343	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		46	74	0	0	0	0.00361	0	46	74				
ARHGAP25	9938	broad.mit.edu	37	2	68962337	68962337	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:68962337C>T	ENST00000295381.3	+	1	425	c.6C>T	c.(4-6)tcC>tcT	p.S2S	ARHGAP25_ENST00000467265.1_Silent_p.S2S|ARHGAP25_ENST00000409202.3_Silent_p.S2S|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	2					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S2S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAAATGTCCCTAAAATTGC	0.433																																							uc002seu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(4-6)TCC>TCT		Rho GTPase activating protein 25 isoform a							212.0	193.0	200.0					2																	68962337		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:68962337C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.6C>T	2.37:g.68962337C>T						ARHGAP25_uc010yqk.1_Intron|ARHGAP25_uc010fdg.2_Silent_p.S2S|ARHGAP25_uc010yql.1_Silent_p.S2S	p.S2S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			1	370	+			2					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.6C>T																																																																																					0.433	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		12	57	0	0	0	0.010729	0	12	57				
CLEC4F	165530	broad.mit.edu	37	2	71046978	71046978	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:71046978C>A	ENST00000272367.2	-	2	183	c.107G>T	c.(106-108)aGg>aTg	p.R36M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R36M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	36					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R36M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGAACGAGCCTCGGTATCTT	0.567																																					Colon(107;10 2157 6841 26035)	Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(106-108)AGG>ATG		C-type lectin, superfamily member 13							57.0	56.0	56.0					2																	71046978		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046978C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.107G>T	2.37:g.71046978C>A	ENSP00000272367:p.Arg36Met					CLEC4F_uc010yqv.1_Missense_Mutation_p.R36M	p.R36M	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			2	184	-			36			Cytoplasmic (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.107G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442962	0.43326	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.03004	4.12;4.08	4.66	1.77	0.24775	.	0.196250	0.24752	N	0.035900	T	0.08403	0.0209	L	0.52573	1.65	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.64595	0.879;0.927	T	0.15206	-1.0445	10	0.44086	T	0.13	.	4.0076	0.09608	0.0:0.5856:0.2001:0.2143	.	36;36	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	M	36	ENSP00000272367:R36M;ENSP00000390581:R36M	ENSP00000272367:R36M	R	-	2	0	CLEC4F	70900486	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.078000	0.14761	0.605000	0.29947	0.467000	0.42956	AGG		0.567	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		18	9	1	0	3.51602e-12	0.008871	4.90662e-12	18	9				
ALMS1	7840	broad.mit.edu	37	2	73827957	73827957	+	Missense_Mutation	SNP	G	G	T	rs61741524	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:73827957G>T	ENST00000264448.6	+	18	11929	c.11818G>T	c.(11818-11820)Ggt>Tgt	p.G3940C	ALMS1_ENST00000409009.1_Missense_Mutation_p.G3898C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3940					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G3940C(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTCTTTACCGGTTATCCTGA	0.388																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11824-11826)GGT>TGT		Alstrom syndrome 1							96.0	96.0	96.0					2																	73827957		2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73827957G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11818G>T	2.37:g.73827957G>T	ENSP00000264448:p.Gly3940Cys					ALMS1_uc002sjf.1_Missense_Mutation_p.G3898C|ALMS1_uc002sjh.1_Missense_Mutation_p.G3328C	p.G3942C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			20	11935	+			3940					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11824G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.876	0.950450	0.18431	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06528	3.29;3.29	5.3	-3.92	0.04155	.	1.169370	0.06167	N	0.677026	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P;B	0.50272	0.933;0.0	P;B	0.48982	0.597;0.001	T	0.19224	-1.0312	10	0.52906	T	0.07	.	0.8062	0.01084	0.4702:0.1229:0.168:0.2389	.	3898;3940	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	C	3898;3940	ENSP00000386627:G3898C;ENSP00000264448:G3940C	ENSP00000264448:G3940C	G	+	1	0	ALMS1	73681465	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.175000	0.16762	-0.366000	0.08064	-2.404000	0.00223	GGT		0.388	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	20	1	0	0.000274275	0.004482	0.000300927	7	20				
WDR54	84058	broad.mit.edu	37	2	74652753	74652753	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:74652753T>C	ENST00000348227.4	+	10	1018	c.930T>C	c.(928-930)ttT>ttC	p.F310F	WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	310								p.F310F(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTGCTCGATTTTGTGATTCCT	0.577																																							uc002slb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)TTT>TTC		WD repeat domain 54							168.0	160.0	162.0					2																	74652753		2203	4300	6503	SO:0001819	synonymous_variant	84058							g.chr2:74652753T>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.930T>C	2.37:g.74652753T>C							p.F310F	NM_032118	NP_115494	Q9H977	WDR54_HUMAN			10	990	+			310					D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.930T>C	CCDS1940.1																																																																																				0.577	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		45	98	0	0	0	0.00361	0	45	98				
REG1A	5967	broad.mit.edu	37	2	79348687	79348687	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:79348687G>T	ENST00000233735.1	+	3	167		c.e3-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.?(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCTTTTTCAGGCCAAGAGGC	0.493																																							uc002snz.2		NA																	1	Unknown(1)		lung(1)		0						c.e3-1		regenerating islet-derived 1 alpha precursor							172.0	190.0	184.0					2																	79348687		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348687G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.65-1G>T	2.37:g.79348687G>T						REG1A_uc010ffx.1_Splice_Site_p.G22_splice|REG1A_uc010ysd.1_Splice_Site_p.G22_splice	p.G22_splice	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	168	+								P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	37	c.65_splice	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571742	0.13623	.	.	ENSG00000115386	ENST00000233735	.	.	.	2.85	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.47511	D	0.999445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.368	0.38237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REG1A	79202195	0.970000	0.33590	0.109000	0.21407	0.015000	0.08874	3.598000	0.54038	1.892000	0.54788	0.563000	0.77884	.		0.493	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Intron	55	176	1	0	1.1362e-29	0.00361	2.0511e-29	55	176				
CAPG	822	broad.mit.edu	37	2	85628374	85628374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:85628374C>T	ENST00000409921.1	-	5	496	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	CAPG_ENST00000409670.1_Missense_Mutation_p.G144R|CAPG_ENST00000263867.4_Missense_Mutation_p.G144R|CAPG_ENST00000409724.1_Missense_Mutation_p.G144R|CAPG_ENST00000483659.1_5'UTR			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	880					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G144R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTCTTCTTCCCCTTCACCTGG	0.597																																							uc002spl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GGG>AGG		gelsolin-like capping protein							177.0	170.0	172.0					2																	85628374		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628374C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.430G>A	2.37:g.85628374C>T	ENSP00000387063:p.Gly144Arg					CAPG_uc002spm.1_Missense_Mutation_p.G144R|CAPG_uc010ysq.1_Missense_Mutation_p.G144R|CAPG_uc010fgi.1_Missense_Mutation_p.G144R|CAPG_uc010fgj.1_Missense_Mutation_p.G38R	p.G144R	NM_001747	NP_001738	P40121	CAPG_HUMAN			5	680	-			144			Nuclear localization signal (Potential).		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.430G>A	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214343	0.95104	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.97	5.97	0.96955	.	0.046081	0.85682	D	0.000000	D	0.85974	0.5822	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.87578	0.962;0.86;0.998	D	0.88530	0.3102	10	0.87932	D	0	.	15.9281	0.79635	0.0:1.0:0.0:0.0	.	123;144;144	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	R	123;144;144;144;144;144;144;144;144	ENSP00000263867:G144R;ENSP00000387063:G144R;ENSP00000386315:G144R;ENSP00000386965:G144R;ENSP00000391923:G144R;ENSP00000403330:G144R;ENSP00000398232:G144R;ENSP00000386596:G144R	ENSP00000263867:G144R	G	-	1	0	CAPG	85481885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.226000	0.78060	2.837000	0.97791	0.655000	0.94253	GGG		0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		20	58	0	0	0	0.002299	0	20	58				
ANKRD20A8P	729171	broad.mit.edu	37	2	95481152	95481152	+	RNA	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:95481152A>G	ENST00000432432.2	-	0	2208					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TGTTTTTCTTAGGTCATTTTG	0.343																																							uc010fhq.1		NA																	0					0						c.(835-837)CTA>CCA		ankyrin repeat domain 20 family, member A2																																						729171							g.chr2:95481152A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95481152A>G						ANKRD20B_uc010fhp.2_RNA	p.L279P	NM_001012421	NP_001012421					2	1228	-								A6NC18	Missense_Mutation	SNP	ENST00000432432.2	37	c.836T>C																																																																																					0.343	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			87	67	0	0	0	0.00361	0	87	67				
POLR1B	84172	broad.mit.edu	37	2	113300233	113300233	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:113300233C>T	ENST00000263331.5	+	1	742	c.162C>T	c.(160-162)ctC>ctT	p.L54L	POLR1B_ENST00000541869.1_Silent_p.L92L|POLR1B_ENST00000409894.3_Silent_p.L54L|POLR1B_ENST00000417433.2_Silent_p.L54L|POLR1B_ENST00000537335.1_5'UTR	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	54					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L54L(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACGAGGGTCTCGGCCTCGCGG	0.672																																					Ovarian(16;256 576 9537 23969 41147)	Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(160-162)CTC>CTT		RNA polymerase I polypeptide B isoform 1							25.0	25.0	25.0					2																	113300233		2203	4299	6502	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113300233C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.162C>T	2.37:g.113300233C>T						POLR1B_uc010fkn.2_Silent_p.L54L|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Silent_p.L54L|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc010yxn.1_Silent_p.L92L|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_5'UTR	p.L54L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			1	742	+			54					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.162C>T	CCDS2097.1																																																																																				0.672	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		15	16	0	0	0	0.004007	0	15	16				
MARCO	8685	broad.mit.edu	37	2	119726804	119726804	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:119726804C>A	ENST00000327097.4	+	2	301	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	56					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L56I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCTGATCCTGCTCACCGCTGG	0.602																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(166-168)CTC>ATC		macrophage receptor with collagenous structure							126.0	114.0	118.0					2																	119726804		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119726804C>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.166C>A	2.37:g.119726804C>A	ENSP00000318916:p.Leu56Ile					MARCO_uc010yyf.1_5'UTR	p.L56I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			2	298	+			56			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.166C>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	9.679	1.148862	0.21288	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.93247	-3.19	5.0	4.05	0.47172	.	0.458426	0.18381	N	0.142970	D	0.92211	0.7530	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	D	0.89350	0.3660	9	.	.	.	.	7.4805	0.27402	0.0:0.8825:0.0:0.1175	.	56	Q9UEW3	MARCO_HUMAN	I	56	ENSP00000318916:L56I	.	L	+	1	0	MARCO	119443274	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	1.919000	0.40015	2.599000	0.87857	0.655000	0.94253	CTC		0.602	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		16	46	1	0	1.3612e-06	0.003163	1.62872e-06	16	46				
POTEF	728378	broad.mit.edu	37	2	130832725	130832725	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:130832725C>A	ENST00000409914.2	-	17	2719	c.2320G>T	c.(2320-2322)Ggc>Tgc	p.G774C	POTEF_ENST00000357462.5_Missense_Mutation_p.G774C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	774	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G774C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGATGATGCCGTGTTCCATG	0.582																																							uc010fmh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2320-2322)GGC>TGC		prostate, ovary, testis expressed protein on							51.0	51.0	51.0					2																	130832725		2201	4282	6483	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832725C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2320G>T	2.37:g.130832725C>A	ENSP00000386786:p.Gly774Cys						p.G774C	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2720	-			774			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2320G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	14.23	2.473886	0.43942	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97791	-4.54;-4.54	.	.	.	.	.	.	.	.	D	0.99093	0.9688	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96949	0.9693	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	774	A5A3E0	POTEF_HUMAN	C	774	ENSP00000350052:G774C;ENSP00000386786:G774C	ENSP00000350052:G774C	G	-	1	0	POTEF	130549195	1.000000	0.71417	0.159000	0.22649	0.161000	0.22273	5.252000	0.65445	0.119000	0.18210	0.121000	0.15741	GGC		0.582	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		33	52	1	0	3.38236e-24	0.006999	5.85082e-24	33	52				
PLEKHB2	55041	broad.mit.edu	37	2	132110713	132110713	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:132110713G>T	ENST00000404460.1	+	7	598	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	PLEKHB2_ENST00000303908.3_Missense_Mutation_p.V182L			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	47						endosome (GO:0005768)|membrane (GO:0016020)		p.V182L(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GCAGATTTCTGTGCTCCTACC	0.498																																							uc002tsh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)GTG>TTG		SubName: Full=Putative uncharacterized protein PLEKHB2;							23.0	19.0	21.0					2																	132110713		692	1578	2270	SO:0001583	missense	55041					membrane	protein binding	g.chr2:132110713G>T		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.544G>T	2.37:g.132110713G>T	ENSP00000385609:p.Val182Leu						p.V182L			Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	7	1104	+			47			PH.		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	ENST00000404460.1	37	c.544G>T		.	.	.	.	.	.	.	.	.	.	.	8.790	0.930419	0.18131	.	.	ENSG00000115762	ENST00000404460;ENST00000303908	.	.	.	0.438	0.438	0.16560	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.80722	D	1	P	0.38110	0.618	B	0.25884	0.064	T	0.05616	-1.0874	7	0.37606	T	0.19	-7.5325	6.7366	0.23413	2.0E-4:0.0:0.9998:0.0	.	182	B7WPA5	.	L	182	.	ENSP00000306852:V182L	V	+	1	0	PLEKHB2	131827183	1.000000	0.71417	0.991000	0.47740	0.166000	0.22503	3.725000	0.54970	0.494000	0.27859	0.134000	0.15878	GTG		0.498	PLEKHB2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318943.2	NM_017958		3	3	1	0	0.00307968	0.00308	0.00325252	3	3				
THSD7B	80731	broad.mit.edu	37	2	137988681	137988681	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:137988681C>A	ENST00000409968.1	+	8	1969	c.1791C>A	c.(1789-1791)ccC>ccA	p.P597P	THSD7B_ENST00000413152.2_Silent_p.P566P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.P597P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	597						integral component of membrane (GO:0016021)		p.P597P(1)|p.P566P(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAAATTCCCTGCCGAATGG	0.483																																							uc002tva.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1696-1698)CCC>CCA		thrombospondin, type I, domain containing 7B							97.0	98.0	98.0					2																	137988681		1999	4163	6162	SO:0001819	synonymous_variant	80731							g.chr2:137988681C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1791C>A	2.37:g.137988681C>A						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.P456P	p.P566P	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1698	+									Silent	SNP	ENST00000409968.1	37	c.1698C>A																																																																																					0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		9	22	1	0	4.68919e-08	0.008291	5.96719e-08	9	22				
THSD7B	80731	broad.mit.edu	37	2	138376014	138376014	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:138376014G>C	ENST00000409968.1	+	19	3796	c.3618G>C	c.(3616-3618)agG>agC	p.R1206S	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1178S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1209S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1208	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.R1178S(1)|p.R1209S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGGCGTCAGGACCCGCCTGC	0.502																																							uc002tva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3529-3531)AGG>AGC		thrombospondin, type I, domain containing 7B							93.0	107.0	102.0					2																	138376014		2125	4239	6364	SO:0001583	missense	80731							g.chr2:138376014G>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3618G>C	2.37:g.138376014G>C	ENSP00000387145:p.Arg1206Ser					THSD7B_uc010zbj.1_Intron	p.R1177S	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	18	3531	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3531G>C		.	.	.	.	.	.	.	.	.	.	G	16.41	3.114694	0.56505	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.63096	-0.02;-0.02;-0.02	4.95	3.16	0.36331	.	0.148860	0.56097	D	0.000021	T	0.56187	0.1968	L	0.55481	1.735	0.80722	D	1	P	0.42203	0.773	B	0.42653	0.394	T	0.53933	-0.8368	10	0.48119	T	0.1	.	7.9519	0.30019	0.2539:0.0:0.7461:0.0	.	1178	C9JKN6	.	S	1206;1209;1178	ENSP00000387145:R1206S;ENSP00000272643:R1209S;ENSP00000413841:R1178S	ENSP00000272643:R1209S	R	+	3	2	THSD7B	138092484	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	1.798000	0.38814	0.689000	0.31550	0.650000	0.86243	AGG		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		7	8	0	0	0	0.00308	0	7	8				
LRP1B	53353	broad.mit.edu	37	2	140995809	140995809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:140995809C>A	ENST00000389484.3	-	89	14443	c.13472G>T	c.(13471-13473)gGc>gTc	p.G4491V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4491					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4491V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATGGATTGCCAATTTCTAC	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13471-13473)GGC>GTC		low density lipoprotein-related protein 1B							193.0	183.0	186.0					2																	140995809		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995809C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13472G>T	2.37:g.140995809C>A	ENSP00000374135:p.Gly4491Val	TSP Lung(27;0.18)					p.G4491V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14444	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4491			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13472G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.063938|5.063938	0.93898|0.93898	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.46451	.|0.87	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66867|0.66867	0.2833|0.2833	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.67647|0.67647	-0.5617|-0.5617	5|10	.|0.72032	.|D	.|0.01	.|.	20.0784|20.0784	0.97758|0.97758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4491	.|Q9NZR2	.|LRP1B_HUMAN	S|V	723;261|4491;4429	.|ENSP00000374135:G4491V	.|ENSP00000374135:G4491V	A|G	-|-	1|2	0|0	LRP1B|LRP1B	140712279|140712279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.294000|7.294000	0.78760|0.78760	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		23	21	1	0	3.62473e-10	0.012319	4.84077e-10	23	21				
LRP1B	53353	broad.mit.edu	37	2	141458109	141458109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:141458109C>A	ENST00000389484.3	-	41	7480	c.6509G>T	c.(6508-6510)tGt>tTt	p.C2170F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2170	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.C2170F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCATGGGCACAAGCACAAGT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6508-6510)TGT>TTT		low density lipoprotein-related protein 1B							100.0	99.0	100.0					2																	141458109		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141458109C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6509G>T	2.37:g.141458109C>A	ENSP00000374135:p.Cys2170Phe	TSP Lung(27;0.18)					p.C2170F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7481	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2170			Extracellular (Potential).|EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6509G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687138	0.68157	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99942	-8.46	4.47	4.47	0.54385	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99959	0.9983	H	0.99182	4.46	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.96004	0.8996	10	0.87932	D	0	.	17.4918	0.87705	0.0:1.0:0.0:0.0	.	2170	Q9NZR2	LRP1B_HUMAN	F	2170;2108	ENSP00000374135:C2170F	ENSP00000374135:C2170F	C	-	2	0	LRP1B	141174579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.710000	0.84655	2.176000	0.68965	0.585000	0.79938	TGT		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	71	1	0	3.65163e-15	0.00632	5.50403e-15	27	71				
GTDC1	79712	broad.mit.edu	37	2	144966344	144966344	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:144966344C>A	ENST00000392869.2	-	3	157	c.5G>T	c.(4-6)aGt>aTt	p.S2I	GTDC1_ENST00000409214.1_Missense_Mutation_p.S2I|GTDC1_ENST00000241391.5_Missense_Mutation_p.S2I|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.S2I|GTDC1_ENST00000542155.1_Missense_Mutation_p.S2I|GTDC1_ENST00000392867.3_Missense_Mutation_p.S2I|GTDC1_ENST00000409298.1_Missense_Mutation_p.S2I|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	2					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.S2I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GATGAGGATACTCATTGGCCC	0.343																																							uc002tvp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)AGT>ATT		glycosyltransferase-like domain containing 1							58.0	58.0	58.0					2																	144966344		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144966344C>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.5G>T	2.37:g.144966344C>A	ENSP00000376608:p.Ser2Ile					GTDC1_uc002tvo.2_Missense_Mutation_p.S2I|GTDC1_uc002tvq.2_Missense_Mutation_p.S2I|GTDC1_uc002tvr.2_Missense_Mutation_p.S2I|GTDC1_uc010fnn.2_Missense_Mutation_p.S2I|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.S2I	p.S2I	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	4	284	-			2					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.5G>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875922	0.91664	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	6.01	6.01	0.97437	Glycosyltransferase family 1, N-terminal (1);	0.084433	0.85682	D	0.000000	T	0.64972	0.2647	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.996;1.0;0.999	D;D;D;D	0.91635	0.972;0.928;0.999;0.962	T	0.60352	-0.7280	10	0.46703	T	0.11	-0.8614	20.5182	0.99214	0.0:1.0:0.0:0.0	.	2;2;2;2	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	I	2	ENSP00000376608:S2I;ENSP00000386581:S2I;ENSP00000376606:S2I;ENSP00000386691:S2I;ENSP00000438323:S2I;ENSP00000241391:S2I;ENSP00000339750:S2I;ENSP00000403869:S2I;ENSP00000400661:S2I	ENSP00000241391:S2I	S	-	2	0	GTDC1	144682814	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.818000	0.62657	2.860000	0.98153	0.655000	0.94253	AGT		0.343	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		12	33	1	0	0.000151284	0.001855	0.000167764	12	33				
LYPD6B	130576	broad.mit.edu	37	2	150069541	150069541	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:150069541A>T	ENST00000409029.1	+	6	494	c.292A>T	c.(292-294)Agc>Tgc	p.S98C	LYPD6B_ENST00000280115.7_Missense_Mutation_p.S122C|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.S122C|LYPD6B_ENST00000409876.1_Missense_Mutation_p.S98C			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	98	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S122C(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACTTCACCAGCCACGGAAG	0.408																																							uc002twv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(364-366)AGC>TGC		LY6/PLAUR domain containing 6B							97.0	97.0	97.0					2																	150069541		2031	4200	6231	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150069541A>T		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.292A>T	2.37:g.150069541A>T	ENSP00000386650:p.Ser98Cys					LYPD6B_uc002tww.1_Missense_Mutation_p.S84C|LYPD6B_uc002twx.1_Missense_Mutation_p.S84C	p.S122C	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			6	765	+			98			UPAR/Ly6.		D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.364A>T		.	.	.	.	.	.	.	.	.	.	A	19.43	3.825214	0.71143	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.76	4.59	0.56863	Ly-6 antigen / uPA receptor -like (1);	0.255793	0.40222	N	0.001152	T	0.38480	0.1042	L	0.43152	1.355	0.28403	N	0.91854	D;D	0.67145	0.988;0.996	P;P	0.56216	0.614;0.794	T	0.20338	-1.0278	9	.	.	.	-7.4956	11.2968	0.49282	0.8469:0.1531:0.0:0.0	.	98;122	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	C	122;98;98;122	ENSP00000387077:S122C;ENSP00000386479:S98C;ENSP00000386650:S98C;ENSP00000280115:S122C	.	S	+	1	0	LYPD6B	149777787	1.000000	0.71417	0.992000	0.48379	0.803000	0.45373	2.493000	0.45320	0.994000	0.38892	0.533000	0.62120	AGC		0.408	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		19	21	0	0	0	0.008871	0	19	21				
GALNT13	114805	broad.mit.edu	37	2	155252566	155252566	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:155252566G>T	ENST00000392825.3	+	10	1787	c.1220G>T	c.(1219-1221)tGt>tTt	p.C407F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.C407F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	407					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C407F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATCTGAAGTGTAAGCCCTTT	0.373																																							uc002tyr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1219-1221)TGT>TTT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							95.0	93.0	94.0					2																	155252566		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155252566G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1220G>T	2.37:g.155252566G>T	ENSP00000376570:p.Cys407Phe					GALNT13_uc002tyt.3_Missense_Mutation_p.C407F|GALNT13_uc010foc.1_Missense_Mutation_p.C226F|GALNT13_uc010fod.2_Missense_Mutation_p.C160F	p.C407F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			10	1787	+			407			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1220G>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294341	0.81025	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	D;D	0.91631	-2.88;-2.88	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	H	0.99130	4.44	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.981;0.967;0.992	D	0.99712	1.1007	10	0.87932	D	0	.	17.2651	0.87084	0.0:0.0:1.0:0.0	.	407;407;407;407	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	F	407	ENSP00000376570:C407F;ENSP00000387239:C407F	ENSP00000376570:C407F	C	+	2	0	GALNT13	154960812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.626000	0.98410	2.492000	0.84095	0.650000	0.86243	TGT		0.373	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		13	29	1	0	1.5842e-08	0.001855	2.04105e-08	13	29				
UPP2	151531	broad.mit.edu	37	2	158978086	158978086	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:158978086C>A	ENST00000005756.4	+	5	814	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	UPP2_ENST00000605860.1_Missense_Mutation_p.P264Q|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.P264Q	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	207					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.P207Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CCCAACTTCCCAACCCTCGTT	0.393																																							uc002tzp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(619-621)CCA>CAA		uridine phosphorylase 2 isoform a							140.0	136.0	137.0					2																	158978086		2203	4299	6502	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158978086C>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.620C>A	2.37:g.158978086C>A	ENSP00000005756:p.Pro207Gln					UPP2_uc002tzo.2_Missense_Mutation_p.P264Q	p.P207Q	NM_173355	NP_775491	O95045	UPP2_HUMAN			5	814	+			207					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.620C>A	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	7.235	0.600201	0.13939	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.43294	0.95;0.95	5.75	3.9	0.45041	Nucleoside phosphorylase domain (1);	0.162863	0.56097	N	0.000030	T	0.34513	0.0900	L	0.50333	1.59	0.58432	D	0.999997	B	0.22146	0.065	B	0.26770	0.073	T	0.07366	-1.0776	10	0.13853	T	0.58	.	10.0214	0.42046	0.1375:0.7897:0.0:0.0728	.	207	O95045	UPP2_HUMAN	Q	264;207	ENSP00000387230:P264Q;ENSP00000005756:P207Q	ENSP00000005756:P207Q	P	+	2	0	UPP2	158686332	0.995000	0.38212	0.998000	0.56505	0.721000	0.41392	3.226000	0.51254	0.728000	0.32382	0.655000	0.94253	CCA		0.393	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		15	65	1	0	6.31663e-08	0.003163	8.00536e-08	15	65				
LY75	4065	broad.mit.edu	37	2	160697335	160697335	+	Missense_Mutation	SNP	G	G	T	rs373016734		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:160697335G>T	ENST00000263636.4	-	25	3439	c.3412C>A	c.(3412-3414)Ctg>Atg	p.L1138M	LY75_ENST00000554112.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1138M|LY75_ENST00000553424.1_Missense_Mutation_p.L1138M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1138M	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1138	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L1138M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGCTCACCAGCTGCATGTTA	0.443																																							uc002ubc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3412-3414)CTG>ATG		lymphocyte antigen 75 precursor							221.0	210.0	214.0					2																	160697335		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160697335G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3412C>A	2.37:g.160697335G>T	ENSP00000263636:p.Leu1138Met					LY75_uc002ubb.3_Missense_Mutation_p.L1138M|LY75_uc010fos.2_Missense_Mutation_p.L1138M	p.L1138M	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	25	3481	-			1138			Extracellular (Potential).|C-type lectin 7.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.3412C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137067	0.56936	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.51	3.66	0.41972	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	D	0.92528	0.7627	H	0.98133	4.155	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92965	0.6392	9	0.52906	T	0.07	-6.8041	10.4189	0.44338	0.1621:0.0:0.8379:0.0	.	1138;1138;1138	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	M	1138	ENSP00000451511:L1138M;ENSP00000451446:L1138M;ENSP00000263636:L1138M;ENSP00000423463:L1138M;ENSP00000421035:L1138M	ENSP00000423463:L1138M	L	-	1	2	LY75;LY75-CD302	160405581	1.000000	0.71417	0.855000	0.33649	0.745000	0.42441	3.157000	0.50716	1.285000	0.44548	0.655000	0.94253	CTG		0.443	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			51	60	1	0	2.52991e-16	0.00361	3.90814e-16	51	60				
TBR1	10716	broad.mit.edu	37	2	162274207	162274207	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:162274207G>C	ENST00000389554.3	+	2	1030	c.713G>C	c.(712-714)aGt>aCt	p.S238T	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	238					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S238T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCTTTTTTAAGTTTTAACATT	0.398																																							uc002ubw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(712-714)AGT>ACT		T-box, brain, 1							116.0	123.0	121.0					2																	162274207		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274207G>C	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.713G>C	2.37:g.162274207G>C	ENSP00000374205:p.Ser238Thr					TBR1_uc010foy.2_5'Flank	p.S238T	NM_006593	NP_006584	Q16650	TBR1_HUMAN			2	1015	+			238			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.713G>C	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157089	0.57259	.	.	ENSG00000136535	ENST00000389554	D	0.87966	-2.32	5.64	5.64	0.86602	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84410	0.5466	L	0.42245	1.32	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.79734	-0.1679	10	0.54805	T	0.06	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	238	Q16650	TBR1_HUMAN	T	238	ENSP00000374205:S238T	ENSP00000374205:S238T	S	+	2	0	TBR1	161982453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.646000	0.89796	0.655000	0.94253	AGT		0.398	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		60	72	0	0	0	0.00361	0	60	72				
DNAJC10	54431	broad.mit.edu	37	2	183584886	183584886	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:183584886T>C	ENST00000264065.7	+	4	772	c.357T>C	c.(355-357)cgT>cgC	p.R119R	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.R119R	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	119					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.R119R(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTATTATCGTTATGATTTTG	0.323																																					Pancreas(56;860 1183 25669 35822 48585)	Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(355-357)CGT>CGC		DnaJ (Hsp40) homolog, subfamily C, member 10							171.0	161.0	164.0					2																	183584886		2203	4299	6502	SO:0001819	synonymous_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183584886T>C		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.357T>C	2.37:g.183584886T>C						DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.R119R|DNAJC10_uc010fro.1_RNA	p.R119R	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		4	772	+			119					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.357T>C	CCDS33345.1																																																																																				0.323	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		23	54	0	0	0	0.004656	0	23	54				
PLCL1	5334	broad.mit.edu	37	2	198950857	198950857	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:198950857T>C	ENST00000428675.1	+	2	3014	c.2616T>C	c.(2614-2616)taT>taC	p.Y872Y	PLCL1_ENST00000437704.2_Silent_p.Y774Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	872					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y872Y(1)|p.Y774Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCGGGAATATACCATGCTCA	0.408																																							uc010fsp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2614-2616)TAT>TAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						92.0	79.0	83.0					2																	198950857		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950857T>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2616T>C	2.37:g.198950857T>C						PLCL1_uc002uuv.3_Silent_p.Y793Y	p.Y872Y	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2907	+			872					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2616T>C	CCDS2326.2																																																																																				0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		23	10	0	0	0	0.00333	0	23	10				
AOX1	316	broad.mit.edu	37	2	201473757	201473757	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:201473757G>T	ENST00000374700.2	+	11	1199	c.958G>T	c.(958-960)Gct>Tct	p.A320S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	320	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A320S(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGACATTTTGGCTGATGTAGT	0.498																																							uc002uvx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(958-960)GCT>TCT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						86.0	80.0	82.0					2																	201473757		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201473757G>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.958G>T	2.37:g.201473757G>T	ENSP00000363832:p.Ala320Ser					AOX1_uc010zhf.1_5'Flank|AOX1_uc010fsu.2_5'Flank	p.A320S	NM_001159	NP_001150	Q06278	ADO_HUMAN			11	1059	+			320			FAD-binding PCMH-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.958G>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.312008	0.01342	.	.	ENSG00000138356	ENST00000374700	T	0.21543	2.0	5.48	0.868	0.19090	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.685831	0.14347	N	0.325331	T	0.11324	0.0276	L	0.39566	1.225	0.22171	N	0.999312	B	0.02656	0.0	B	0.09377	0.004	T	0.34254	-0.9836	10	0.09590	T	0.72	-0.0493	1.1341	0.01751	0.2904:0.1519:0.387:0.1707	.	320	Q06278	ADO_HUMAN	S	320	ENSP00000363832:A320S	ENSP00000363832:A320S	A	+	1	0	AOX1	201182002	0.999000	0.42202	0.018000	0.16275	0.001000	0.01503	0.901000	0.28445	0.237000	0.21200	-0.302000	0.09304	GCT		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		16	9	1	0	0.006122	0.006122	0.00641107	16	9				
ALS2CR11	151254	broad.mit.edu	37	2	202352544	202352544	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:202352544A>T	ENST00000286195.3	-	15	1707	c.1663T>A	c.(1663-1665)Tta>Ata	p.L555I	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.L1752I|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	555								p.L555I(1)|p.L1752I(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTTTTTCCTAAAAGCCTTGAT	0.353																																							uc002uye.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1663-1665)TTA>ATA		amyotrophic lateral sclerosis 2 (juvenile)							228.0	219.0	222.0					2																	202352544		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202352544A>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1663T>A	2.37:g.202352544A>T	ENSP00000286195:p.Leu555Ile					ALS2CR11_uc002uyf.2_Missense_Mutation_p.L1752I|ALS2CR11_uc010fti.2_3'UTR	p.L555I	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			15	1711	-			555					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1663T>A	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.820329	0.32145	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.20738	2.05;2.05	4.92	-0.271	0.12922	.	0.467363	0.15991	N	0.234808	T	0.12518	0.0304	L	0.39898	1.24	0.22989	N	0.998464	P;P	0.35107	0.484;0.484	B;B	0.33254	0.114;0.16	T	0.21827	-1.0234	10	0.87932	D	0	.	0.6515	0.00827	0.4711:0.1742:0.1871:0.1676	.	1752;555	E9PGG4;Q53TS8	.;AL2SA_HUMAN	I	555;1752	ENSP00000286195:L555I;ENSP00000409937:L1752I	ENSP00000286195:L555I	L	-	1	2	ALS2CR11	202060789	0.652000	0.27349	0.028000	0.17463	0.231000	0.25187	0.898000	0.28404	-0.186000	0.10533	-0.256000	0.11100	TTA		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		49	138	0	0	0	0.00361	0	49	138				
CPS1	1373	broad.mit.edu	37	2	211465353	211465353	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:211465353A>T	ENST00000233072.5	+	15	1820	c.1624A>T	c.(1624-1626)Atg>Ttg	p.M542L	CPS1_ENST00000451903.2_Missense_Mutation_p.M91L|CPS1_ENST00000430249.2_Missense_Mutation_p.M548L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	542					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.M542L(1)|p.M548L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGAGTCCATTATGGCTACGGA	0.403																																							uc002vee.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1624-1626)ATG>TTG		carbamoyl-phosphate synthetase 1 isoform b							120.0	119.0	119.0					2																	211465353		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211465353A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1624A>T	2.37:g.211465353A>T	ENSP00000233072:p.Met542Leu					CPS1_uc010fur.2_Missense_Mutation_p.M548L|CPS1_uc010fus.2_Missense_Mutation_p.M91L	p.M542L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	15	1756	+			542					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1624A>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656439	0.47467	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.94828	-3.53;-3.53;-3.53	5.09	5.09	0.68999	PreATP-grasp-like fold (1);	0.037190	0.85682	D	0.000000	D	0.93288	0.7861	M	0.67517	2.055	0.52501	D	0.999951	B;B	0.13594	0.008;0.008	B;B	0.14023	0.01;0.01	D	0.91276	0.5048	10	0.66056	D	0.02	-20.3211	15.1753	0.72907	1.0:0.0:0.0:0.0	.	552;542	Q59HF8;P31327	.;CPSM_HUMAN	L	548;550;542;91	ENSP00000402608:M548L;ENSP00000233072:M542L;ENSP00000406136:M91L	ENSP00000233072:M542L	M	+	1	0	CPS1	211173598	1.000000	0.71417	0.996000	0.52242	0.426000	0.31534	6.991000	0.76232	2.038000	0.60285	0.377000	0.23210	ATG		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			24	82	0	0	0	0.003954	0	24	82				
ATIC	471	broad.mit.edu	37	2	216213880	216213880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:216213880G>T	ENST00000236959.9	+	15	1893	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.E464*|ATIC_ENST00000435675.1_Nonsense_Mutation_p.E522*	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	523					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.E523*(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CACTGAGGCAGAGAAGAAGGA	0.448			T	ALK	ALCL																																		uc002vex.3		NA		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(1567-1569)GAG>TAG		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						134.0	131.0	132.0					2																	216213880		2203	4300	6503	SO:0001587	stop_gained	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216213880G>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1567G>T	2.37:g.216213880G>T	ENSP00000236959:p.Glu523*					ATIC_uc010zjo.1_Nonsense_Mutation_p.E464*|ATIC_uc002vey.3_Nonsense_Mutation_p.E522*	p.E523*	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	15	1741	+		Renal(323;0.229)	523					A8K202|E9PBU3|Q13856|Q53S28	Nonsense_Mutation	SNP	ENST00000236959.9	37	c.1567G>T	CCDS2398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.460104|5.460104	0.96240|0.96240	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048|ENST00000426233	.|.	.|.	.|.	5.78|5.78	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72708	.|0.3494	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74785	.|-0.3547	.|3	0.87932|.	D|.	0|.	-22.2034|-22.2034	16.5846|16.5846	0.84724|0.84724	0.0:0.1305:0.8695:0.0|0.0:0.1305:0.8695:0.0	.|.	.|.	.|.	.|.	X|I	523;464;522;38|191	.|.	ENSP00000236959:E523X|.	E|R	+|+	1|2	0|0	ATIC|ATIC	215922125|215922125	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.984000|0.984000	0.73092|0.73092	6.663000|6.663000	0.74431|0.74431	1.392000|1.392000	0.46585|0.46585	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.448	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		25	30	1	0	1.42536e-11	0.004656	1.95829e-11	25	30				
WNT10A	80326	broad.mit.edu	37	2	219754782	219754782	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:219754782G>T	ENST00000258411.3	+	3	1086	c.453G>T	c.(451-453)ctG>ctT	p.L151L	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	151					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGTGCCCTGGGCAAACTGA	0.612																																							uc002vjd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(451-453)CTG>CTT		wingless-type MMTV integration site family,							88.0	73.0	78.0					2																	219754782		2203	4300	6503	SO:0001819	synonymous_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219754782G>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.453G>T	2.37:g.219754782G>T							p.L151L	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	916	+		Renal(207;0.0474)	151					Q53S44|Q96TA7|Q9H7S8	Silent	SNP	ENST00000258411.3	37	c.453G>T	CCDS2426.1																																																																																				0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		8	43	1	0	0.00307968	0.00308	0.00325252	8	43				
ANKZF1	55139	broad.mit.edu	37	2	220098104	220098104	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:220098104A>T	ENST00000323348.5	+	7	942	c.768A>T	c.(766-768)tcA>tcT	p.S256S	ANKZF1_ENST00000409849.1_Silent_p.S46S|ANKZF1_ENST00000410034.3_Silent_p.S256S	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	256						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S256S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGCCATCACACTCTGCTG	0.522																																							uc002vkg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(766-768)TCA>TCT		ankyrin repeat and zinc finger domain containing							41.0	43.0	43.0					2																	220098104		1930	4143	6073	SO:0001819	synonymous_variant	55139					intracellular	zinc ion binding	g.chr2:220098104A>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.768A>T	2.37:g.220098104A>T						ANKZF1_uc010zkv.1_Silent_p.S200S|ANKZF1_uc010zkw.1_Silent_p.S46S|ANKZF1_uc002vkh.2_Silent_p.S46S|ANKZF1_uc002vki.2_Silent_p.S256S|ANKZF1_uc002vkj.1_Silent_p.S244S	p.S256S	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	942	+		Renal(207;0.0474)	256					Q9NVZ4	Silent	SNP	ENST00000323348.5	37	c.768A>T	CCDS42821.1																																																																																				0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		11	23	0	0	0	0.010729	0	11	23				
SPEG	10290	broad.mit.edu	37	2	220326615	220326615	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:220326615T>C	ENST00000312358.7	+	7	2584	c.2452T>C	c.(2452-2454)Tcc>Ccc	p.S818P	SPEG_ENST00000396698.1_Missense_Mutation_p.S714P|SPEG_ENST00000396695.2_Missense_Mutation_p.S26P|SPEG_ENST00000396688.1_5'UTR|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396686.1_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	818					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S818P(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGTCTACATCCCCTTTCAG	0.622																																							uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2452-2454)TCC>CCC		SPEG complex locus							75.0	84.0	81.0					2																	220326615		2012	4191	6203	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220326615T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2452T>C	2.37:g.220326615T>C	ENSP00000311684:p.Ser818Pro					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.S26P|SPEG_uc002vln.1_Missense_Mutation_p.S26P|SPEG_uc002vlp.1_Missense_Mutation_p.S26P|SPEG_uc002vlq.2_5'UTR	p.S818P	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	7	2452	+		Renal(207;0.0183)	818					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2452T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637184	0.67130	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695	T;T;T	0.65732	-0.17;0.2;0.57	5.3	5.3	0.74995	.	0.000000	0.41001	D	0.000971	T	0.63616	0.2526	N	0.19112	0.55	0.39318	D	0.965198	D;P;D	0.65815	0.995;0.921;0.967	D;B;B	0.72982	0.979;0.332;0.418	T	0.62062	-0.6933	10	0.22109	T	0.4	.	12.648	0.56746	0.0:0.0:0.0:1.0	.	818;26;714	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	P	818;818;714;26	ENSP00000311684:S818P;ENSP00000379926:S714P;ENSP00000379923:S26P	ENSP00000265327:S818P	S	+	1	0	SPEG	220034859	0.691000	0.27709	0.974000	0.42286	0.282000	0.26991	0.792000	0.26929	2.007000	0.58848	0.460000	0.39030	TCC		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		21	84	0	0	0	0.004656	0	21	84				
EPHA4	2043	broad.mit.edu	37	2	222298988	222298988	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:222298988C>A	ENST00000281821.2	-	14	2411	c.2370G>T	c.(2368-2370)tgG>tgT	p.W790C	EPHA4_ENST00000392071.4_Missense_Mutation_p.W739C|EPHA4_ENST00000409854.1_Missense_Mutation_p.W790C|EPHA4_ENST00000409938.1_Missense_Mutation_p.W790C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	790	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.W790C(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTGGCGCAGTCCACCGGATAG	0.448																																							uc002vmq.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2368-2370)TGG>TGT		ephrin receptor EphA4 precursor							182.0	165.0	171.0					2																	222298988		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222298988C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2370G>T	2.37:g.222298988C>A	ENSP00000281821:p.Trp790Cys					EPHA4_uc002vmr.2_Missense_Mutation_p.W790C|EPHA4_uc010zlm.1_Missense_Mutation_p.W731C|EPHA4_uc010zln.1_Missense_Mutation_p.W790C	p.W790C	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	14	2412	-		Renal(207;0.0183)	790			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2370G>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511744	0.85389	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92002	0.5611	10	0.87932	D	0	.	19.8381	0.96666	0.0:1.0:0.0:0.0	.	790	P54764	EPHA4_HUMAN	C	790;790;790;739	ENSP00000281821:W790C;ENSP00000386276:W790C;ENSP00000386829:W790C;ENSP00000375923:W739C	ENSP00000281821:W790C	W	-	3	0	EPHA4	222007232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.692000	0.91855	0.650000	0.86243	TGG		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			23	73	1	0	9.86323e-18	0.003954	1.56651e-17	23	73				
KCNE4	23704	broad.mit.edu	37	2	223917913	223917913	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:223917913G>T	ENST00000281830.3	+	2	849	c.518G>T	c.(517-519)gGg>gTg	p.G173V	KCNE4_ENST00000604125.1_Missense_Mutation_p.G122V|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	173						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.G122V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCATGGAAGGGGACAGCGTG	0.667																																							uc002vnl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)GGG>GTG		potassium voltage-gated channel, Isk-related							47.0	48.0	48.0					2																	223917913		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917913G>T	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.518G>T	2.37:g.223917913G>T	ENSP00000281830:p.Gly173Val						p.G122V	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	519	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	122			Cytoplasmic (Potential).		B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.365G>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.175170	0.78564	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.25	0.73442	.	0.167838	0.53938	D	0.000046	T	0.60637	0.2284	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.57720	0.826	T	0.63808	-0.6553	9	0.59425	D	0.04	-12.3328	19.2387	0.93873	0.0:0.1223:0.8777:0.0	.	122	Q8WWG9	KCNE4_HUMAN	V	122	.	ENSP00000281830:G122V	G	+	2	0	KCNE4	223626157	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	5.926000	0.70070	2.937000	0.99478	0.650000	0.86243	GGG		0.667	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		7	30	1	0	3.09899e-07	0.004482	3.77347e-07	7	30				
DOCK10	55619	broad.mit.edu	37	2	225761065	225761065	+	Silent	SNP	A	A	G	rs376771721		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:225761065A>G	ENST00000258390.7	-	4	430	c.363T>C	c.(361-363)caT>caC	p.H121H	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Silent_p.H115H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	121					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H121H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTTTACCACATGCCACTGGG	0.368																																							uc010fwz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(361-363)CAT>CAC		dedicator of cytokinesis 10							57.0	51.0	53.0					2																	225761065		1813	4068	5881	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225761065A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.363T>C	2.37:g.225761065A>G						DOCK10_uc002vob.2_Silent_p.H115H|DOCK10_uc002vod.1_Silent_p.H121H	p.H121H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	4	602	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	121					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.363T>C	CCDS46528.1																																																																																				0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	6	0	0	0	0.00308	0	7	6				
SP140	11262	broad.mit.edu	37	2	231090583	231090583	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:231090583G>T	ENST00000392045.3	+	1	138	c.24G>T	c.(22-24)ggG>ggT	p.G8G	SP110_ENST00000540870.1_5'Flank|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000343805.6_Silent_p.G8G|SP140_ENST00000373645.3_Silent_p.G8G|SP140_ENST00000486687.2_Silent_p.G8G|SP140_ENST00000420434.3_Silent_p.G8G|SP140_ENST00000417495.3_Silent_p.G8G	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	8					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G8G(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCCAGCAGGGGCAGATGGCAA	0.547																																							uc002vql.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(22-24)GGG>GGT		SP140 nuclear body protein isoform 1							160.0	130.0	140.0					2																	231090583		2203	4300	6503	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231090583G>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.24G>T	2.37:g.231090583G>T						SP140_uc010zma.1_RNA|SP140_uc002vqj.2_Silent_p.G8G|SP140_uc002vqk.2_Silent_p.G8G|SP140_uc002vqn.2_Silent_p.G8G|SP140_uc002vqm.2_Silent_p.G8G|SP140_uc010fxl.2_Silent_p.G8G	p.G8G	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	1	139	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	8					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.24G>T	CCDS42831.1																																																																																				0.547	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		15	10	1	0	4.7546e-09	0.004007	6.20296e-09	15	10				
COL6A3	1293	broad.mit.edu	37	2	238280799	238280799	+	Missense_Mutation	SNP	G	G	C	rs113247852		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:238280799G>C	ENST00000295550.4	-	9	4313	c.3861C>G	c.(3859-3861)aaC>aaG	p.N1287K	COL6A3_ENST00000392003.2_Missense_Mutation_p.N880K|COL6A3_ENST00000472056.1_Missense_Mutation_p.N680K|COL6A3_ENST00000409809.1_Missense_Mutation_p.N1081K|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1081K|COL6A3_ENST00000392004.3_Missense_Mutation_p.N1081K|COL6A3_ENST00000346358.4_Missense_Mutation_p.N1087K|COL6A3_ENST00000347401.3_Missense_Mutation_p.N1086K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1287	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1081K(1)|p.N1287K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGAATGGGCGTTCAGCAGGA	0.602																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3859-3861)AAC>AAG		alpha 3 type VI collagen isoform 1 precursor							62.0	54.0	57.0					2																	238280799		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280799G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3861C>G	2.37:g.238280799G>C	ENSP00000295550:p.Asn1287Lys					COL6A3_uc002vwo.2_Missense_Mutation_p.N1081K|COL6A3_uc010znj.1_Missense_Mutation_p.N680K|COL6A3_uc002vwq.2_Missense_Mutation_p.N1081K|COL6A3_uc002vwr.2_Missense_Mutation_p.N880K	p.N1287K	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4146	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1287			VWFA 7.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3861C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042100	0.35989	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.73	-11.3	0.00108	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000017	T	0.51210	0.1661	L	0.55481	1.735	0.34877	D	0.744199	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.965	D;D;D;D;P	0.97110	1.0;0.992;1.0;1.0;0.751	T	0.80466	-0.1370	10	0.30854	T	0.27	.	21.0701	0.99945	0.8149:0.0:0.1851:0.0	.	680;880;1081;1081;1287	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	K	1287;1086;1081;680;1081;1087;1081;880	ENSP00000295550:N1287K;ENSP00000315609:N1086K;ENSP00000315873:N1081K;ENSP00000418285:N680K;ENSP00000386844:N1081K;ENSP00000295546:N1087K;ENSP00000375861:N1081K;ENSP00000375860:N880K	ENSP00000295550:N1287K	N	-	3	2	COL6A3	237945538	0.000000	0.05858	0.002000	0.10522	0.183000	0.23260	-0.852000	0.04308	-2.358000	0.00611	-1.578000	0.00866	AAC		0.602	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		25	23	0	0	0	0.005443	0	25	23				
KIF1A	547	broad.mit.edu	37	2	241712631	241712631	+	Silent	SNP	G	G	T	rs563701542		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:241712631G>T	ENST00000320389.7	-	13	1238	c.1080C>A	c.(1078-1080)atC>atA	p.I360I	KIF1A_ENST00000498729.2_Silent_p.I360I	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	360					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.I360I(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCCTCATTGATGACAGCAT	0.617																																							uc002vzy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1078-1080)ATC>ATA		axonal transport of synaptic vesicles							92.0	99.0	97.0					2																	241712631		2200	4300	6500	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241712631G>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1080C>A	2.37:g.241712631G>T						KIF1A_uc010fzk.2_Silent_p.I360I|KIF1A_uc002vzz.1_Silent_p.I360I	p.I360I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	13	1226	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	360			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.1080C>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234700	0.22626	.	.	ENSG00000130294	ENST00000428768	.	.	.	3.83	2.86	0.33363	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49485	-0.8935	4	.	.	.	.	5.415	0.16368	0.0984:0.0:0.5558:0.3458	.	.	.	.	K	168	.	.	Q	-	1	0	KIF1A	241361304	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.645000	0.24782	1.688000	0.51068	0.491000	0.48974	CAA		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		12	35	1	0	0.000978159	0.010729	0.00105825	12	35				
D2HGDH	728294	broad.mit.edu	37	2	242707130	242707130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:242707130G>T	ENST00000321264.4	+	10	1521	c.1312G>T	c.(1312-1314)Ggt>Tgt	p.G438C	D2HGDH_ENST00000403782.1_Missense_Mutation_p.G304C|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	438					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.G438C(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCAGGAGATGGTAACCTGCA	0.692																																							uc002wce.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1312-1314)GGT>TGT		D-2-hydroxyglutarate dehydrogenase precursor							47.0	55.0	52.0					2																	242707130		2203	4295	6498	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707130G>T	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1312G>T	2.37:g.242707130G>T	ENSP00000315351:p.Gly438Cys					D2HGDH_uc010fzq.1_Missense_Mutation_p.G304C|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.G137C	p.G438C	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1485	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	438					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1312G>T	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.004302|3.004302	0.54254|0.54254	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000542211|ENST00000445308	D;D|.	0.86366|.	-2.11;-2.11|.	4.45|4.45	4.45|4.45	0.53987|0.53987	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87966|0.87966	0.6311|0.6311	H|H	0.97131|0.97131	3.945|3.945	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	D|.	0.70716|.	0.97|.	D|D	0.92621|0.92621	0.6108|0.6108	10|5	0.62326|.	D|.	0.03|.	-5.9355|-5.9355	17.0957|17.0957	0.86634|0.86634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	438|.	Q8N465|.	D2HDH_HUMAN|.	C|I	438;304;58|236	ENSP00000315351:G438C;ENSP00000384723:G304C|.	ENSP00000315351:G438C|.	G|M	+|+	1|3	0|0	D2HGDH|D2HGDH	242355803|242355803	1.000000|1.000000	0.71417|0.71417	0.892000|0.892000	0.35008|0.35008	0.104000|0.104000	0.19210|0.19210	8.836000|8.836000	0.92105|0.92105	2.016000|2.016000	0.59253|0.59253	0.457000|0.457000	0.33378|0.33378	GGT|ATG		0.692	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		11	41	1	0	4.36969e-10	0.001855	5.81066e-10	11	41				
CSRP2BP	57325	broad.mit.edu	37	20	18143374	18143374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:18143374C>T	ENST00000435364.3	+	6	1797	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.P485S|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P358S	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	486					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.P486S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGCCATGACTCCGGAAGCTCG	0.502																																							uc002wqj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(1456-1458)CCG>TCG		CSRP2 binding protein							90.0	77.0	81.0					20																	18143374		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143374C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1456C>T	20.37:g.18143374C>T	ENSP00000392318:p.Pro486Ser					CSRP2BP_uc002wqk.2_Missense_Mutation_p.P358S|CSRP2BP_uc010zru.1_Missense_Mutation_p.P357S	p.P486S	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			7	2078	+			486					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1456C>T	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910793	0.52439	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.14766	2.48;2.49;2.48;2.49	6.17	6.17	0.99709	.	0.053176	0.85682	D	0.000000	T	0.16428	0.0395	L	0.42245	1.32	0.80722	D	1	B;B	0.33637	0.42;0.127	B;B	0.32090	0.14;0.014	T	0.01591	-1.1317	10	0.35671	T	0.21	-20.3375	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;486	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	S	486;485;486;358	ENSP00000278816:P486S;ENSP00000366909:P485S;ENSP00000392318:P486S;ENSP00000425909:P358S	ENSP00000278816:P486S	P	+	1	0	CSRP2BP	18091374	0.997000	0.39634	0.404000	0.26397	0.991000	0.79684	4.307000	0.59123	2.941000	0.99782	0.655000	0.94253	CCG		0.502	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		19	55	0	0	0	0.008871	0	19	55				
DNMT3B	1789	broad.mit.edu	37	20	31388040	31388040	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:31388040G>T	ENST00000328111.2	+	17	2162	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	DNMT3B_ENST00000353855.2_Missense_Mutation_p.G594V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G594V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G594V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G552V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G606V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G518V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	614	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.G606V(1)|p.G614V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGCTGTTGGAACCGTGAAG	0.502																																							uc002wyc.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(1840-1842)GGA>GTA		DNA cytosine-5 methyltransferase 3 beta isoform							242.0	208.0	219.0					20																	31388040		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31388040G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1841G>T	20.37:g.31388040G>T	ENSP00000328547:p.Gly614Val					DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.G594V|DNMT3B_uc002wye.2_Missense_Mutation_p.G594V|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G552V|DNMT3B_uc010zua.1_Missense_Mutation_p.G518V|DNMT3B_uc002wyf.2_Missense_Mutation_p.G606V|DNMT3B_uc002wyg.2_Missense_Mutation_p.G313V|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	p.G614V	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			17	2162	+			614					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1841G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246812	0.80024	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.65	5.65	0.86999	.	0.102724	0.64402	D	0.000002	D	0.85199	0.5642	N	0.17474	0.49	0.80722	D	1	B;P;D;D;B;P;P	0.76494	0.236;0.795;0.999;0.973;0.109;0.927;0.785	B;P;D;P;B;P;B	0.76071	0.374;0.758;0.987;0.687;0.157;0.687;0.424	D	0.86276	0.1664	10	0.51188	T	0.08	-20.2849	19.0797	0.93177	0.0:0.0:1.0:0.0	.	518;552;313;606;594;594;614	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	V	614;594;594;552;518;594;606	ENSP00000328547:G614V;ENSP00000313397:G594V;ENSP00000337764:G594V;ENSP00000403169:G552V;ENSP00000412305:G518V;ENSP00000345105:G594V;ENSP00000201963:G606V	ENSP00000201963:G606V	G	+	2	0	DNMT3B	30851701	1.000000	0.71417	0.643000	0.29450	0.767000	0.43475	7.911000	0.87458	2.810000	0.96702	0.650000	0.86243	GGA		0.502	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		31	44	1	0	9.93527e-08	0.002836	1.24642e-07	31	44				
AHCY	191	broad.mit.edu	37	20	32878141	32878141	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:32878141C>T	ENST00000217426.2	-	8	1046	c.969G>A	c.(967-969)ccG>ccA	p.P323P	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Silent_p.P295P	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	323					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.P323P(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTCACCTGCGGCTTGATGT	0.567																																							uc002xai.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(967-969)CCG>CCA		adenosylhomocysteinase isoform 1							147.0	119.0	129.0					20																	32878141		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878141C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.969G>A	20.37:g.32878141C>T						AHCY_uc002xaj.2_Silent_p.P295P	p.P323P	NM_000687	NP_000678	P23526	SAHH_HUMAN			8	1108	-			323					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.969G>A	CCDS13233.1																																																																																				0.567	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		35	53	0	0	0	0.007835	0	35	53				
CNBD2	140894	broad.mit.edu	37	20	34596256	34596256	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:34596256C>A	ENST00000373973.3	+	9	1181	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	CNBD2_ENST00000538900.1_Silent_p.I336I|CNBD2_ENST00000349339.1_Silent_p.I336I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	336								p.I336I(1)									AATTCCAGATCAAATCATATC	0.408																																							uc002xes.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)ATC>ATA		SubName: Full=C20orf152 protein;							101.0	113.0	109.0					20																	34596256		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34596256C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1008C>A	20.37:g.34596256C>A						C20orf152_uc002xer.1_Silent_p.I336I|C20orf152_uc010gfp.1_RNA	p.I336I			Q96M20	CT152_HUMAN			9	1164	+	Breast(12;0.00631)		336					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1008C>A																																																																																					0.408	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		39	96	1	0	9.73076e-26	0.006999	1.70701e-25	39	96				
PABPC1L	80336	broad.mit.edu	37	20	43552898	43552898	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:43552898G>T	ENST00000217073.2	+	7	972		c.e7+1		PABPC1L_ENST00000490798.1_Splice_Site|PABPC1L_ENST00000217074.4_Splice_Site|PABPC1L_ENST00000255136.3_Splice_Site|PABPC1L_ENST00000537323.1_Splice_Site			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like						mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.?(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGTGCGAAGGTGAGGACTGG	0.577																																							uc010ggv.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e7+1		poly(A)-binding protein, cytoplasmic 1-like							89.0	82.0	84.0					20																	43552898		1568	3582	5150	SO:0001630	splice_region_variant	80336						nucleotide binding|RNA binding	g.chr20:43552898G>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.972+1G>T	20.37:g.43552898G>T						PABPC1L_uc010zwq.1_Splice_Site|PABPC1L_uc002xmv.2_Splice_Site	p.K324_splice	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			7	1054	+								Q4VY17	Splice_Site	SNP	ENST00000217073.2	37	c.972_splice	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965640	0.74131	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.892	0.88875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PABPC1L	42986312	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	9.745000	0.98856	2.393000	0.81446	0.655000	0.94253	.		0.577	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		Intron	23	20	1	0	9.57634e-11	0.00333	1.29e-10	23	20				
ARFGEF2	10564	broad.mit.edu	37	20	47607618	47607618	+	Silent	SNP	C	C	T	rs146960510		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:47607618C>T	ENST00000371917.4	+	21	2856	c.2856C>T	c.(2854-2856)tcC>tcT	p.S952S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	952					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.S952S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTCGCTTCTCCCTACTCACAG	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|upper_aerodigestive_tract(1)	4						c.(2854-2856)TCC>TCT		ADP-ribosylation factor guanine							166.0	129.0	141.0					20																	47607618		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47607618C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2856C>T	20.37:g.47607618C>T						ARFGEF2_uc010zyf.1_Silent_p.S245S	p.S952S	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		21	3008	+			952					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.2856C>T	CCDS13411.1																																																																																				0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		11	37	0	0	0	0.010729	0	11	37				
ATP9A	10079	broad.mit.edu	37	20	50310572	50310572	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:50310572C>A	ENST00000338821.5	-	7	881	c.617G>T	c.(616-618)tGc>tTc	p.C206F	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	206					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C206F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTCTGCGTGCAGGCCACGGG	0.632																																							uc002xwg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(616-618)TGC>TTC		ATPase, class II, type 9A							46.0	48.0	47.0					20																	50310572		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50310572C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.617G>T	20.37:g.50310572C>A	ENSP00000342481:p.Cys206Phe					ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	p.C206F	NM_006045	NP_006036	O75110	ATP9A_HUMAN			7	617	-			206			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.617G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870992	0.33069	.	.	ENSG00000054793	ENST00000338821	D	0.90385	-2.66	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.044126	0.85682	D	0.000000	D	0.82499	0.5050	N	0.13168	0.305	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.77405	-0.2600	10	0.10636	T	0.68	-22.973	18.3987	0.90509	0.0:1.0:0.0:0.0	.	206	O75110	ATP9A_HUMAN	F	206	ENSP00000342481:C206F	ENSP00000342481:C206F	C	-	2	0	ATP9A	49743979	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.487000	0.81328	2.329000	0.79093	0.655000	0.94253	TGC		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		34	15	1	0	3.77016e-25	0.013114	6.55817e-25	34	15				
BMP7	655	broad.mit.edu	37	20	55758795	55758795	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:55758795C>T	ENST00000395863.3	-	4	1446	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R314Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	314					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.R314Q(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTTGGCCATCCGCAGGGCTTC	0.642																																							uc010gip.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(940-942)CGG>CAG		bone morphogenetic protein 7 precursor							78.0	69.0	72.0					20																	55758795		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758795C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.941G>A	20.37:g.55758795C>T	ENSP00000379204:p.Arg314Gln					BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R314Q	p.R314Q	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1470	-	all_lung(29;0.0133)|Melanoma(10;0.242)		314					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.941G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781124	0.70222	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;D	0.82433	-1.12;-1.61	5.48	5.48	0.80851	Transforming growth factor-beta, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79610	0.4475	L	0.55990	1.75	0.58432	D	0.999995	B;P	0.42337	0.122;0.776	B;B	0.36092	0.028;0.217	T	0.78427	-0.2208	10	0.27082	T	0.32	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	314;314	P18075;B1AL00	BMP7_HUMAN;.	Q	314	ENSP00000379204:R314Q;ENSP00000398687:R314Q	ENSP00000379204:R314Q	R	-	2	0	BMP7	55192202	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.870000	0.69620	2.559000	0.86315	0.643000	0.83706	CGG		0.642	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			15	46	0	0	0	0.004007	0	15	46				
CTCFL	140690	broad.mit.edu	37	20	56094399	56094399	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:56094399C>T	ENST00000608263.1	-	3	1450	c.789G>A	c.(787-789)atG>atA	p.M263I	CTCFL_ENST00000608440.1_Missense_Mutation_p.M263I|CTCFL_ENST00000432255.2_Missense_Mutation_p.M263I|CTCFL_ENST00000609232.1_Missense_Mutation_p.M263I|CTCFL_ENST00000481655.2_Missense_Mutation_p.M263I|CTCFL_ENST00000422869.2_Missense_Mutation_p.M263I|CTCFL_ENST00000608158.1_Missense_Mutation_p.M263I|CTCFL_ENST00000429804.3_Missense_Mutation_p.M263I|CTCFL_ENST00000243914.3_Missense_Mutation_p.M263I|CTCFL_ENST00000539382.1_Missense_Mutation_p.M58I|CTCFL_ENST00000433949.3_Missense_Mutation_p.M58I|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000423479.3_Missense_Mutation_p.M263I|CTCFL_ENST00000608425.1_Missense_Mutation_p.M263I|CTCFL_ENST00000502686.2_Start_Codon_SNP_p.M1I|CTCFL_ENST00000608903.1_Start_Codon_SNP_p.M1I|CTCFL_ENST00000371196.2_Missense_Mutation_p.M263I	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	263					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.M263I(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAGAGGTGAACATGCAGACAT	0.398																																							uc010gix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(787-789)ATG>ATA		CCCTC-binding factor-like protein							148.0	134.0	139.0					20																	56094399		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094399C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.789G>A	20.37:g.56094399C>T	ENSP00000476783:p.Met263Ile					CTCFL_uc010giw.1_Missense_Mutation_p.M263I|CTCFL_uc002xym.2_Missense_Mutation_p.M263I|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.M263I|CTCFL_uc010gjb.1_Missense_Mutation_p.M263I|CTCFL_uc010gjc.1_Missense_Mutation_p.M263I|CTCFL_uc010gjd.1_Missense_Mutation_p.M263I|CTCFL_uc010gje.2_Missense_Mutation_p.M263I|CTCFL_uc010gjf.2_Missense_Mutation_p.M58I|CTCFL_uc010gjg.2_5'UTR|CTCFL_uc010gjh.1_Missense_Mutation_p.M263I|CTCFL_uc010gji.1_Missense_Mutation_p.M58I|CTCFL_uc010gjj.1_Missense_Mutation_p.M263I|CTCFL_uc010gjk.1_Missense_Mutation_p.M263I|CTCFL_uc010gjl.1_Missense_Mutation_p.M263I	p.M263I	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1451	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		263			C2H2-type 1.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.789G>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089890	0.36855	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;3.12;1.64;1.64;1.64;1.64;1.64	5.25	-8.38	0.00973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.800050	0.00698	N	0.000772	T	0.15003	0.0362	N	0.17474	0.49	0.09310	N	0.999997	B;B;B;B;B;B;B;B	0.11235	0.004;0.003;0.002;0.004;0.001;0.0;0.004;0.001	B;B;B;B;B;B;B;B	0.12837	0.004;0.008;0.0;0.004;0.001;0.002;0.002;0.002	T	0.16100	-1.0414	10	0.46703	T	0.11	0.9464	2.575	0.04804	0.1582:0.1256:0.2183:0.4979	.	263;263;263;263;263;263;263;263	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	I	263;263;263;263;263;1;263;263;263;58;263	ENSP00000415579:M263I;ENSP00000243914:M263I;ENSP00000360239:M263I;ENSP00000415329:M263I;ENSP00000392034:M263I;ENSP00000437999:M1I;ENSP00000413713:M263I;ENSP00000403369:M263I;ENSP00000409344:M263I;ENSP00000439998:M58I;ENSP00000399061:M263I	ENSP00000243914:M263I	M	-	3	0	CTCFL	55527805	0.017000	0.18338	0.001000	0.08648	0.014000	0.08584	0.101000	0.15251	-1.036000	0.03287	-0.229000	0.12294	ATG		0.398	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		16	80	0	0	0	0.007413	0	16	80				
PCK1	5105	broad.mit.edu	37	20	56139537	56139537	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:56139537G>T	ENST00000319441.4	+	8	1350		c.e8-1		PCK1_ENST00000543666.1_Splice_Site|PCK1_ENST00000535860.1_Missense_Mutation_p.R293M	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)						carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGTCTTATAGGGGAACCTTG	0.602																																							uc002xyn.3		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e8-1		cytosolic phosphoenolpyruvate carboxykinase 1							85.0	86.0	86.0					20																	56139537		2203	4300	6503	SO:0001630	splice_region_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139537G>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1187-1G>T	20.37:g.56139537G>T						PCK1_uc010zzm.1_Splice_Site_p.G79_splice	p.G396_splice	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		8	1350	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)							A8K437|B4DT64|Q8TCA3|Q9UJD2	Splice_Site	SNP	ENST00000319441.4	37	c.1187_splice	CCDS13460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996167|2.996167	0.54147|0.54147	.|.	.|.	ENSG00000124253|ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666|ENST00000535860	.|T	.|0.13538	.|2.58	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	.|T	.|0.37598	.|0.1009	.|.	.|.	.|.	0.43471|0.43471	D|D	0.995687|0.995687	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.12967	.|-1.0527	.|6	.|0.87932	.|D	.|0	.|.	19.4277|19.4277	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|293	.|ENSP00000444342:R293M	.|ENSP00000444342:R293M	.|R	+|+	.|2	.|0	PCK1|PCK1	55572943|55572943	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.504000|0.504000	0.33889|0.33889	8.716000|8.716000	0.91420|0.91420	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	.|AGG		0.602	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		Intron	16	50	1	0	4.96729e-08	0.008871	6.30815e-08	16	50				
YTHDF1	54915	broad.mit.edu	37	20	61834033	61834033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:61834033C>A	ENST00000370339.3	-	4	1600	c.1259G>T	c.(1258-1260)cGc>cTc	p.R420L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.R370L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	420	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R420L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GCTGTCCAGGCGCTTGTTGCC	0.567																																							uc002yeh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1258-1260)CGC>CTC		YTH domain family, member 1							76.0	68.0	71.0					20																	61834033		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834033C>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1259G>T	20.37:g.61834033C>A	ENSP00000359364:p.Arg420Leu					YTHDF1_uc011aaq.1_Missense_Mutation_p.R370L	p.R420L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	1553	-			420			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1259G>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976203	0.74360	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.31510	1.49;1.49	5.02	4.07	0.47477	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.85462	2.755	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	T	0.65878	-0.6061	10	0.87932	D	0	-18.0762	13.7811	0.63084	0.0:0.9242:0.0:0.0758	.	420	Q9BYJ9	YTHD1_HUMAN	L	420;370	ENSP00000359364:R420L;ENSP00000359358:R370L	ENSP00000359358:R370L	R	-	2	0	YTHDF1	61304478	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.980000	0.70516	2.339000	0.79563	0.591000	0.81541	CGC		0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		33	40	1	0	9.17885e-22	0.003271	1.56595e-21	33	40				
MYT1	4661	broad.mit.edu	37	20	62850370	62850370	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:62850370A>T	ENST00000328439.1	+	12	2317	c.1953A>T	c.(1951-1953)ccA>ccT	p.P651P	MYT1_ENST00000536311.1_Silent_p.P678P|MYT1_ENST00000360149.4_Silent_p.P353P	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P651P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCACGAAGCCACAGGACCTCC	0.587																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1951-1953)CCA>CCT		myelin transcription factor 1							54.0	42.0	46.0					20																	62850370		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62850370A>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1953A>T	20.37:g.62850370A>T						MYT1_uc002yih.2_Silent_p.P353P|MYT1_uc002yij.2_Silent_p.P310P	p.P651P	NM_004535	NP_004526	Q01538	MYT1_HUMAN			12	2317	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		651					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1953A>T	CCDS13558.1																																																																																				0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		10	18	0	0	0	0.008291	0	10	18				
MYT1	4661	broad.mit.edu	37	20	62853402	62853402	+	Splice_Site	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr20:62853402T>G	ENST00000328439.1	+	14	2760		c.e14+2		MYT1_ENST00000536311.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCTGCTCACGTAAGTCCCTGT	0.562																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e14+2		myelin transcription factor 1							66.0	65.0	65.0					20																	62853402		2203	4300	6503	SO:0001630	splice_region_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62853402T>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2396+2T>G	20.37:g.62853402T>G						MYT1_uc002yih.2_Splice_Site_p.T501_splice|MYT1_uc002yij.2_Splice_Site_p.T458_splice	p.T799_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN			14	2760	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)							B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Splice_Site	SNP	ENST00000328439.1	37	c.2396_splice	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286895	0.80803	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3432	0.74314	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYT1	62323846	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.584000	0.82572	2.032000	0.59987	0.533000	0.62120	.		0.562	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	Intron	6	46	0	0	0	0.00308	0	6	46				
TPTE	7179	broad.mit.edu	37	21	10920104	10920104	+	Nonsense_Mutation	SNP	C	C	A	rs142165446		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr21:10920104C>A	ENST00000361285.4	-	19	1479	c.1150G>T	c.(1150-1152)Gga>Tga	p.G384*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.G366*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.G346*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	384	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G366*(1)|p.G384*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTTACTCCCTGAAATTTT	0.378													.|||	1	0.000199681	0.0008	0.0	5008	,	,		42365	0.0		0.0	False		,,,				2504	0.0						uc002yip.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1150-1152)GGA>TGA		transmembrane phosphatase with tensin homology		C	stop/GLY,stop/GLY,stop/GLY	2,4404		0,2,2201	87.0	84.0	85.0		1096,1036,1150	2.3	0.9	21	dbSNP_134	85	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	,,	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	,,	366/534,346/514,384/552	10920104	2,13004	2203	4300	6503	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920104C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1150G>T	21.37:g.10920104C>A	ENSP00000355208:p.Gly384*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.G366*|TPTE_uc002yir.1_Nonsense_Mutation_p.G346*|TPTE_uc010gkv.1_Nonsense_Mutation_p.G246*	p.G384*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1518	-			384			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1150G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	27.6	4.848992	0.91277	4.54E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.32	2.32	0.28847	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4063	8.1818	0.31315	0.0:1.0:0.0:0.0	.	.	.	.	X	366;384;346	.	ENSP00000298232:G366X	G	-	1	0	TPTE	9941975	1.000000	0.71417	0.939000	0.37840	0.155000	0.21991	4.310000	0.59141	1.313000	0.45069	0.184000	0.17185	GGA		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			12	50	1	0	0.00010058	0.001368	0.000111936	12	50				
KRTAP12-1	353332	broad.mit.edu	37	21	46102028	46102028	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr21:46102028G>A	ENST00000391617.1	-	1	50	c.11C>T	c.(10-12)aCc>aTc	p.T4I	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	4						keratin filament (GO:0045095)		p.T4I(1)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGCAGCTGGTGTGGCACAT	0.662																																							uc002zfv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(10-12)ACC>ATC		keratin associated protein 12-1							28.0	34.0	32.0					21																	46102028		2162	4263	6425	SO:0001583	missense	353332					keratin filament		g.chr21:46102028G>A	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"""Keratin associated proteins"""	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.11C>T	21.37:g.46102028G>A	ENSP00000375475:p.Thr4Ile					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T4I	NM_181686	NP_859014	P59990	KR121_HUMAN			1	51	-			4					Q0VAS3	Missense_Mutation	SNP	ENST00000391617.1	37	c.11C>T	CCDS42966.1	.	.	.	.	.	.	.	.	.	.	g	11.03	1.517750	0.27123	.	.	ENSG00000187175	ENST00000391617	T	0.12255	2.7	3.27	3.27	0.37495	.	0.000000	0.33515	U	0.004826	T	0.33265	0.0857	.	.	.	0.32710	N	0.511685	D	0.76494	0.999	D	0.69824	0.966	T	0.49113	-0.8973	9	0.72032	D	0.01	.	12.3719	0.55260	0.0:0.0:1.0:0.0	.	4	P59990	KR121_HUMAN	I	4	ENSP00000375475:T4I	ENSP00000375475:T4I	T	-	2	0	KRTAP12-1	44926456	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	1.534000	0.36051	1.799000	0.52666	0.407000	0.27541	ACC		0.662	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		13	8	0	0	0	0.004007	0	13	8				
PIWIL3	440822	broad.mit.edu	37	22	25123945	25123945	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:25123945C>T	ENST00000332271.5	-	16	2424	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.V552I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V552I|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	670	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.V670I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTACTTGCAACAAATCCTGCT	0.343																																							uc003abd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2008-2010)GTT>ATT		piwi-like 3							135.0	120.0	125.0					22																	25123945		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25123945C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2008G>A	22.37:g.25123945C>T	ENSP00000330031:p.Val670Ile					PIWIL3_uc011ajx.1_Missense_Mutation_p.V552I|PIWIL3_uc011ajy.1_Missense_Mutation_p.V552I|PIWIL3_uc010gut.1_Missense_Mutation_p.V661I	p.V670I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			16	2425	-			670			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2008G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318179	0.40996	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.18960	2.18;2.18;2.18	2.8	2.8	0.32819	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.45074	0.1324	M	0.80028	2.48	0.54753	D	0.99998	D;D;D	0.89917	1.0;0.995;0.994	D;D;D	0.87578	0.998;0.951;0.923	T	0.47799	-0.9089	10	0.51188	T	0.08	-14.1808	11.3922	0.49822	0.0:1.0:0.0:0.0	.	552;661;670	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	670;552;552	ENSP00000330031:V670I;ENSP00000431843:V552I;ENSP00000435718:V552I	ENSP00000330031:V670I	V	-	1	0	PIWIL3	23453945	1.000000	0.71417	0.916000	0.36221	0.034000	0.12701	4.976000	0.63785	1.601000	0.50113	0.561000	0.74099	GTT		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		21	27	0	0	0	0.012319	0	21	27				
CHEK2	11200	broad.mit.edu	37	22	29121263	29121263	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:29121263T>C	ENST00000405598.1	-	4	603	c.412A>G	c.(412-414)Aca>Gca	p.T138A	CHEK2_ENST00000328354.6_Missense_Mutation_p.T138A|CHEK2_ENST00000348295.3_Missense_Mutation_p.T138A|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382566.1_Missense_Mutation_p.T138A|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382580.2_Missense_Mutation_p.T181A|CHEK2_ENST00000402731.1_Missense_Mutation_p.T138A|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	138	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.T138A(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTGCTGTATGTTCGGTATTTA	0.373			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Substitution - Missense(1)		lung(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(412-414)ACA>GCA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							192.0	177.0	182.0					22																	29121263		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121263T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.412A>G	22.37:g.29121263T>C	ENSP00000386087:p.Thr138Ala					CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.T138A|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.T181A|CHEK2_uc003adv.1_Missense_Mutation_p.T138A|CHEK2_uc003adw.1_Missense_Mutation_p.T138A|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.T138A|CHEK2_uc003adz.1_5'UTR	p.T138A	NM_007194	NP_009125	O96017	CHK2_HUMAN			3	484	-			138			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.412A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283181	0.40394	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.90133	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.62;-2.19;-2.62	5.87	5.87	0.94306	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.093296	0.64402	D	0.000001	D	0.86180	0.5871	L	0.39566	1.225	0.53005	D	0.999964	B;P;P;B;B	0.36483	0.006;0.555;0.494;0.067;0.178	B;B;B;B;B	0.33454	0.013;0.164;0.092;0.101;0.032	D	0.85453	0.1162	10	0.37606	T	0.19	0.1408	15.4548	0.75305	0.0:0.0:0.0:1.0	.	138;138;138;138;181	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	A	138;138;138;138;138;181;138;138;169;148	ENSP00000329012:T138A;ENSP00000372007:T138A;ENSP00000329178:T138A;ENSP00000385747:T138A;ENSP00000386087:T138A;ENSP00000372023:T181A;ENSP00000384835:T138A;ENSP00000397478:T138A;ENSP00000408065:T169A;ENSP00000381099:T148A	ENSP00000329178:T138A	T	-	1	0	CHEK2	27451263	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	3.922000	0.56462	2.247000	0.74100	0.477000	0.44152	ACA		0.373	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		33	83	0	0	0	0.003271	0	33	83				
LGALS2	3957	broad.mit.edu	37	22	37966684	37966684	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:37966684A>T	ENST00000215886.4	-	3	322	c.148T>A	c.(148-150)Ttc>Atc	p.F50I		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	50	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.F50I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					GATTCGCTGAAGCGAGGGTTG	0.552																																					GBM(193;1840 2185 13711 20676 24505)	GBM(193;1840 2185 13711 20676 24505)	uc003ata.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(148-150)TTC>ATC		lectin, galactoside-binding, soluble, 2							159.0	142.0	148.0					22																	37966684		2203	4300	6503	SO:0001583	missense	3957							g.chr22:37966684A>T		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.148T>A	22.37:g.37966684A>T	ENSP00000215886:p.Phe50Ile						p.F50I	NM_006498	NP_006489	P05162	LEG2_HUMAN			3	260	-	Melanoma(58;0.0574)		50			Galectin.		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	c.148T>A	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.860833	0.71834	.	.	ENSG00000100079	ENST00000215886	T	0.62105	0.05	5.64	4.62	0.57501	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.045205	0.85682	D	0.000000	T	0.72269	0.3439	M	0.86028	2.79	0.41082	D	0.98553	D	0.60160	0.987	P	0.52856	0.711	T	0.75434	-0.3319	10	0.87932	D	0	-8.9969	8.3173	0.32108	0.8479:0.0:0.1521:0.0	.	50	P05162	LEG2_HUMAN	I	50	ENSP00000215886:F50I	ENSP00000215886:F50I	F	-	1	0	LGALS2	36296630	1.000000	0.71417	0.993000	0.49108	0.813000	0.45954	3.997000	0.57016	0.953000	0.37825	-0.274000	0.10170	TTC		0.552	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		45	51	0	0	0	0.00361	0	45	51				
CACNA1I	8911	broad.mit.edu	37	22	40055719	40055719	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:40055719C>A	ENST00000402142.3	+	14	2466	c.2466C>A	c.(2464-2466)gaC>gaA	p.D822E	CACNA1I_ENST00000336649.4_Missense_Mutation_p.D828E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D787E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D822E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D787E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D787E	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	822					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.D822E(1)|p.D787E(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAGGAGGACTGGAACGTCG	0.582																																							uc003ayc.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2464-2466)GAC>GAA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						132.0	136.0	135.0					22																	40055719		2066	4186	6252	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055719C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2466C>A	22.37:g.40055719C>A	ENSP00000385019:p.Asp822Glu					CACNA1I_uc003ayd.2_Missense_Mutation_p.D787E|CACNA1I_uc003aye.2_Missense_Mutation_p.D737E|CACNA1I_uc003ayf.2_Missense_Mutation_p.D702E	p.D822E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			14	2466	+	Melanoma(58;0.0749)		822			Extracellular (Potential).|II.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2466C>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905034	0.72868	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	M	0.86805	2.84	0.58432	D	0.999999	B;B;B;D	0.89917	0.119;0.057;0.228;1.0	B;B;B;D	0.87578	0.052;0.081;0.078;0.998	D	0.99827	1.1051	10	0.87932	D	0	.	17.9551	0.89065	0.0:1.0:0.0:0.0	.	787;822;787;822	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	E	822;787;822;787;828;787	ENSP00000385019:D822E;ENSP00000384093:D787E;ENSP00000383887:D822E;ENSP00000385680:D787E;ENSP00000337829:D828E;ENSP00000383028:D787E	ENSP00000337829:D828E	D	+	3	2	CACNA1I	38385665	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.858000	0.62947	2.284000	0.76573	0.655000	0.94253	GAC		0.582	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		50	38	1	0	9.59835e-30	0.00361	1.73778e-29	50	38				
EFCAB6	64800	broad.mit.edu	37	22	44107437	44107437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:44107437C>A	ENST00000262726.7	-	10	1202	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V165L|EFCAB6_ENST00000358439.4_Missense_Mutation_p.V211L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	317	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.V317L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTAAAAGACACGTAGCCACCT	0.373																																							uc003bdy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(949-951)GTG>TTG		CAP-binding protein complex interacting protein							68.0	71.0	70.0					22																	44107437		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44107437C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.949G>T	22.37:g.44107437C>A	ENSP00000262726:p.Val317Leu					EFCAB6_uc003bdz.1_Missense_Mutation_p.V165L|EFCAB6_uc010gzi.1_Missense_Mutation_p.V165L|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_Missense_Mutation_p.V211L|EFCAB6_uc003bea.1_Missense_Mutation_p.V314L	p.V317L	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			10	1164	-		Ovarian(80;0.0247)|all_neural(38;0.025)	317			EF-hand 3.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.949G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139892	0.37728	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439	T;T;T	0.34859	3.42;3.42;1.34	5.23	-0.444	0.12245	.	0.516537	0.16680	N	0.203967	T	0.37999	0.1024	L	0.53249	1.67	0.09310	N	1	P;D;P	0.54207	0.874;0.965;0.898	P;P;B	0.51615	0.471;0.675;0.426	T	0.26573	-1.0099	10	0.32370	T	0.25	-15.3177	8.3899	0.32522	0.0:0.6091:0.0:0.3909	.	211;317;317	B4DKR4;Q5THR3-6;Q5THR3	.;.;EFCB6_HUMAN	L	165;317;211	ENSP00000379533:V165L;ENSP00000262726:V317L;ENSP00000351219:V211L	ENSP00000262726:V317L	V	-	1	0	EFCAB6	42438770	0.002000	0.14202	0.000000	0.03702	0.868000	0.49771	-0.012000	0.12699	-0.124000	0.11724	0.563000	0.77884	GTG		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		20	12	1	0	2.39187e-15	0.008871	3.6284e-15	20	12				
BRD1	23774	broad.mit.edu	37	22	50192297	50192297	+	Missense_Mutation	SNP	G	G	A	rs376208895		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:50192297G>A	ENST00000216267.8	-	4	2180	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	BRD1_ENST00000342989.5_Missense_Mutation_p.T160I|BRD1_ENST00000542442.1_Missense_Mutation_p.T258I|BRD1_ENST00000404760.1_Missense_Mutation_p.T565I|BRD1_ENST00000457780.2_Missense_Mutation_p.T565I|BRD1_ENST00000404034.1_Missense_Mutation_p.T565I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	565					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.T160I(1)|p.T565I(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCAGCGGGGTCAGCCGCAG	0.657																																							uc003biv.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1693-1695)ACC>ATC		bromodomain containing protein 1		G	ILE/THR	0,4406		0,0,2203	38.0	36.0	37.0		1694	3.9	0.8	22		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRD1	NM_014577.1	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	565/1059	50192297	1,13005	2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192297G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1694C>T	22.37:g.50192297G>A	ENSP00000216267:p.Thr565Ile					BRD1_uc011arf.1_Missense_Mutation_p.T160I|BRD1_uc011arg.1_Missense_Mutation_p.T619I|BRD1_uc011arh.1_Missense_Mutation_p.T565I|BRD1_uc003biu.3_Missense_Mutation_p.T565I	p.T565I	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	4	2181	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	565					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1694C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326269	0.24080	0.0	1.16E-4	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.43294	2.16;2.16;2.16;2.16;0.95;0.95	4.96	3.93	0.45458	Bromodomain (3);	0.096585	0.64402	D	0.000001	T	0.42449	0.1203	M	0.77486	2.375	0.58432	D	0.999998	B;B;B;B	0.22983	0.047;0.049;0.027;0.078	B;B;B;B	0.24701	0.025;0.024;0.015;0.055	T	0.27331	-1.0077	10	0.20046	T	0.44	.	10.636	0.45565	0.0744:0.1331:0.7926:0.0	.	565;160;565;565	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	I	565;565;565;565;258;160;25	ENSP00000216267:T565I;ENSP00000384076:T565I;ENSP00000385858:T565I;ENSP00000410042:T565I;ENSP00000437514:T258I;ENSP00000345886:T160I	ENSP00000216267:T565I	T	-	2	0	BRD1	48578301	1.000000	0.71417	0.835000	0.33067	0.060000	0.15804	5.359000	0.66074	1.087000	0.41251	-0.165000	0.13383	ACC		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		5	11	0	0	0	0.000602	0	5	11				
CAMK1	8536	broad.mit.edu	37	3	9807579	9807579	+	Intron	SNP	C	C	T	rs150915328		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:9807579C>T	ENST00000256460.3	-	3	261				OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Silent_p.I278I|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302036.7_Silent_p.I345I	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I						cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.?(1)|p.I345I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GCCCCCCTATCGGGAGAGGGG	0.582																																							uc003bsm.2		NA																	2	Unknown(1)|Substitution - coding silent(1)		lung(2)		0						c.(1033-1035)ATC>ATT	BER_DNA_glycosylases	8-oxoguanine DNA-glycosylase 1 isoform 2a		T	,,,,,	0,4406		0,0,2203	69.0	65.0	66.0		,1035,834,,,	-9.0	0.0	3	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous,coding-synonymous,utr-3,utr-3,utr-3	OGG1,CAMK1	NM_003656.4,NM_016821.2,NM_016826.2,NM_016827.2,NM_016828.2,NM_016829.2	,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,	,345/425,278/358,,,	9807579	2,13004	2203	4300	6503	SO:0001627	intron_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9807579C>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.84-5G>A	3.37:g.9807579C>T						OGG1_uc003bsk.2_3'UTR|OGG1_uc003bsl.2_3'UTR|OGG1_uc003bsn.2_Silent_p.I278I|OGG1_uc003bso.2_3'UTR|CAMK1_uc003bst.2_Intron|CAMK1_uc003bsu.2_Intron	p.I345I	NM_016821	NP_058214	O15527	OGG1_HUMAN			7	1378	+	Medulloblastoma(99;0.227)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3KPF6	Silent	SNP	ENST00000256460.3	37	c.1035C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	c	5.473	0.272389	0.10349	0.0	2.33E-4	ENSG00000114026	ENST00000352937	.	.	.	4.5	-8.99	0.00751	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	0.5577	3.6355	0.08147	0.3414:0.3874:0.1839:0.0874	.	.	.	.	W	184	.	.	R	+	1	2	OGG1	9782579	0.002000	0.14202	0.001000	0.08648	0.122000	0.20287	-2.158000	0.01281	-1.035000	0.03291	-2.473000	0.00201	CGG		0.582	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		17	26	0	0	0	0.004007	0	17	26				
ARPP21	10777	broad.mit.edu	37	3	35763114	35763114	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:35763114C>T	ENST00000187397.4	+	14	1469	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	ARPP21_ENST00000337271.5_Missense_Mutation_p.S284L|ARPP21_ENST00000458225.1_Missense_Mutation_p.S304L|ARPP21_ENST00000444190.1_Missense_Mutation_p.S284L|ARPP21_ENST00000417925.1_Missense_Mutation_p.S304L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	338	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.S338L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGATGGCTCAGGGAGAACA	0.532																																							uc003cgb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1012-1014)TCA>TTA		cyclic AMP-regulated phosphoprotein, 21 kD							51.0	49.0	50.0					3																	35763114		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763114C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1013C>T	3.37:g.35763114C>T	ENSP00000187397:p.Ser338Leu					ARPP21_uc003cga.2_Missense_Mutation_p.S284L|ARPP21_uc011axy.1_Missense_Mutation_p.S304L|ARPP21_uc003cgf.2_Missense_Mutation_p.S139L|ARPP21_uc003cgg.2_5'UTR	p.S338L	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			14	1277	+			338			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1013C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439243	0.83885	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.27402	1.7;1.74;1.74;1.67;1.7	5.01	5.01	0.66863	.	0.158570	0.44097	D	0.000482	T	0.26738	0.0654	L	0.39245	1.2	0.46521	D	0.999086	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.13407	0.009;0.004;0.009	T	0.02668	-1.1126	10	0.32370	T	0.25	-12.2469	14.5178	0.67830	0.0:0.9262:0.0:0.0738	.	304;338;284	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	L	304;284;284;338;304	ENSP00000414351:S304L;ENSP00000337792:S284L;ENSP00000405276:S284L;ENSP00000187397:S338L;ENSP00000412326:S304L	ENSP00000187397:S338L	S	+	2	0	ARPP21	35738118	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	5.144000	0.64832	2.720000	0.93068	0.650000	0.86243	TCA		0.532	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		5	17	0	0	0	0.000602	0	5	17				
SCN10A	6336	broad.mit.edu	37	3	38739735	38739735	+	Missense_Mutation	SNP	G	G	T	rs200761212		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:38739735G>T	ENST00000449082.2	-	27	4975	c.4976C>A	c.(4975-4977)aCg>aAg	p.T1659K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1659					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T1659K(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCGGCCGACGTGGTAATCTG	0.597																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4975-4977)ACG>AAG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						112.0	112.0	112.0					3																	38739735		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739735G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4976C>A	3.37:g.38739735G>T	ENSP00000390600:p.Thr1659Lys						p.T1659K	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4976	-			1659			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4976C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171955	0.78452	.	.	ENSG00000185313	ENST00000449082	D	0.98901	-5.22	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.99881	4.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97057	0.9768	10	0.87932	D	0	.	19.3209	0.94237	0.0:0.0:1.0:0.0	.	1659	Q9Y5Y9	SCNAA_HUMAN	K	1659	ENSP00000390600:T1659K	ENSP00000390600:T1659K	T	-	2	0	SCN10A	38714739	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	9.648000	0.98483	2.800000	0.96347	0.655000	0.94253	ACG		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		35	44	1	0	3.2961e-07	0.004878	4.00563e-07	35	44				
ULK4	54986	broad.mit.edu	37	3	41504603	41504603	+	Missense_Mutation	SNP	G	G	C	rs532435333	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:41504603G>C	ENST00000301831.4	-	33	3830	c.3368C>G	c.(3367-3369)tCc>tGc	p.S1123C		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1123					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1123C(1)|p.S275C(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATACCGGAGGTATAGGT	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		19698	0.0		0.0	False		,,,				2504	0.002						uc003ckv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3367-3369)TCC>TGC		unc-51-like kinase 4							135.0	130.0	132.0					3																	41504603		1959	4172	6131	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41504603G>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3368C>G	3.37:g.41504603G>C	ENSP00000301831:p.Ser1123Cys						p.S1123C	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	33	3569	-			1123					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.3368C>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441889	0.43326	.	.	ENSG00000168038	ENST00000301831	T	0.58506	0.33	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.40728	U	0.001024	T	0.63082	0.2481	L	0.38175	1.15	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.68488	-0.5395	10	0.87932	D	0	.	17.7419	0.88409	0.0:0.0:1.0:0.0	.	1123	Q96C45	ULK4_HUMAN	C	1123	ENSP00000301831:S1123C	ENSP00000301831:S1123C	S	-	2	0	ULK4	41479607	0.836000	0.29430	0.005000	0.12908	0.228000	0.25075	5.417000	0.66423	2.187000	0.69744	0.491000	0.48974	TCC		0.453	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		30	62	0	0	0	0.009535	0	30	62				
CCR2	729230	broad.mit.edu	37	3	46399269	46399269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:46399269T>A	ENST00000400888.2	+	1	290	c.251T>A	c.(250-252)cTg>cAg	p.L84Q	CCR2_ENST00000445132.2_Missense_Mutation_p.L84Q|CCR2_ENST00000292301.4_Missense_Mutation_p.L84Q|CCR2_ENST00000465202.1_Intron			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	84					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)	p.L84Q(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTGCTCAACCTGGCCATCTCT	0.438																																							uc003cpn.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(250-252)CTG>CAG		chemokine (C-C motif) receptor 2 isoform A							250.0	229.0	235.0					3																	46399269		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399269T>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.251T>A	3.37:g.46399269T>A	ENSP00000383681:p.Leu84Gln					CCR2_uc003cpm.3_Missense_Mutation_p.L84Q	p.L84Q	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	736	+			84			Helical; Name=2; (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.251T>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979389	0.74360	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000136	D	0.97470	0.9172	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98688	1.0695	10	0.87932	D	0	.	13.9659	0.64209	0.0:0.0:0.0:1.0	.	84;84	P41597;Q4VBL2	CCR2_HUMAN;.	Q	84	ENSP00000399285:L84Q;ENSP00000292301:L84Q;ENSP00000396736:L84Q;ENSP00000383681:L84Q	ENSP00000292301:L84Q	L	+	2	0	CCR2	46374273	1.000000	0.71417	0.869000	0.34112	0.822000	0.46500	7.841000	0.86834	1.774000	0.52232	0.528000	0.53228	CTG		0.438	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		81	126	0	0	0	0.00361	0	81	126				
SETD2	29072	broad.mit.edu	37	3	47163563	47163563	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47163563T>A	ENST00000409792.3	-	3	2605	c.2563A>T	c.(2563-2565)Agc>Tgc	p.S855C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	855					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.S352C(1)|p.S855C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTACCGATGCTCTGCTTATAT	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(2563-2565)AGC>TGC		SET domain containing 2							58.0	61.0	60.0					3																	47163563		2203	4299	6502	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163563T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2563A>T	3.37:g.47163563T>A	ENSP00000386759:p.Ser855Cys					SETD2_uc003cqv.2_Missense_Mutation_p.S844C	p.S855C	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2616	-		Acute lymphoblastic leukemia(5;0.0169)	855					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2563A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	10.16	1.272850	0.23221	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89270	-2.49;1.38	5.18	4.03	0.46877	.	0.621389	0.15832	N	0.242442	T	0.79639	0.4480	N	0.14661	0.345	0.25574	N	0.986867	P;P	0.47106	0.89;0.89	B;B	0.43155	0.41;0.41	T	0.71513	-0.4570	10	0.62326	D	0.03	.	6.651	0.22961	0.0:0.0823:0.167:0.7507	.	855;855	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	855;855;855;811	ENSP00000386759:S855C;ENSP00000416401:S811C	ENSP00000386759:S855C	S	-	1	0	SETD2	47138567	0.000000	0.05858	0.945000	0.38365	0.942000	0.58702	-0.175000	0.09825	0.996000	0.38943	0.533000	0.62120	AGC		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		29	45	0	0	0	0.005443	0	29	45				
SCAP	22937	broad.mit.edu	37	3	47460980	47460980	+	Nonsense_Mutation	SNP	G	G	T	rs530103700		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47460980G>T	ENST00000265565.5	-	13	2190	c.1778C>A	c.(1777-1779)tCg>tAg	p.S593*	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000545718.1_Nonsense_Mutation_p.S201*|SCAP_ENST00000441517.2_Nonsense_Mutation_p.S338*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	593					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.S593*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCGCCTGGCGACGTCTGGTT	0.632																																					Pancreas(149;978 1908 29304 37806 46700)	Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1777-1779)TCG>TAG		SREBF chaperone protein							86.0	83.0	84.0					3																	47460980		2203	4300	6503	SO:0001587	stop_gained	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460980G>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1778C>A	3.37:g.47460980G>T	ENSP00000265565:p.Ser593*					SCAP_uc011baz.1_Nonsense_Mutation_p.S338*|SCAP_uc003crg.2_Nonsense_Mutation_p.S201*	p.S593*	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2033	-			593			Lumenal (By similarity).		Q8N2E0|Q8WUA1	Nonsense_Mutation	SNP	ENST00000265565.5	37	c.1778C>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242744	0.79912	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	.	.	.	4.48	0.581	0.17407	.	0.320352	0.27544	N	0.018897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-0.9054	4.5757	0.12232	0.6285:0.0:0.2356:0.1359	.	.	.	.	X	220;593;338;201	.	ENSP00000265565:S593X	S	-	2	0	SCAP	47435984	0.281000	0.24258	0.001000	0.08648	0.116000	0.19942	0.386000	0.20702	-0.006000	0.14370	-0.448000	0.05591	TCG		0.632	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		33	53	1	0	1.08312e-15	0.009535	1.65669e-15	33	53				
SMARCC1	6599	broad.mit.edu	37	3	47703910	47703910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:47703910G>A	ENST00000254480.5	-	20	2191	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	691					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.S691L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGGATTTCCTGACTGACTGAA	0.512																																							uc003crq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(2071-2073)TCA>TTA		SWI/SNF-related matrix-associated							76.0	72.0	74.0					3																	47703910		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47703910G>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2072C>T	3.37:g.47703910G>A	ENSP00000254480:p.Ser691Leu					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.S582L	p.S691L	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2190	-			691					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2072C>T	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474536	0.84640	.	.	ENSG00000173473	ENST00000254480	T	0.48836	0.8	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.56769	1.78	0.80722	D	1	B	0.21452	0.056	B	0.24541	0.054	T	0.50617	-0.8807	10	0.87932	D	0	-15.5263	18.214	0.89879	0.0:0.0:1.0:0.0	.	691	Q92922	SMRC1_HUMAN	L	691	ENSP00000254480:S691L	ENSP00000254480:S691L	S	-	2	0	SMARCC1	47678914	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	7.822000	0.86651	2.608000	0.88229	0.591000	0.81541	TCA		0.512	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			23	30	0	0	0	0.002299	0	23	30				
CAMKV	79012	broad.mit.edu	37	3	49896879	49896879	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:49896879G>T	ENST00000477224.1	-	11	1856	c.1378C>A	c.(1378-1380)Cct>Act	p.P460T	TRAIP_ENST00000473863.1_5'Flank|TRAIP_ENST00000331456.2_5'Flank|CAMKV_ENST00000488336.1_Missense_Mutation_p.P429T|CAMKV_ENST00000463537.1_Silent_p.P391P|CAMKV_ENST00000466940.1_Missense_Mutation_p.P386T|TRAIP_ENST00000469027.1_5'Flank|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000467248.1_Missense_Mutation_p.P385T|CAMKV_ENST00000296471.7_Missense_Mutation_p.P432T			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	460	Ala-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P460T(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCGGCTCAGGGGTGGCAGCT	0.642																																							uc003cxt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(1378-1380)CCT>ACT		CaM kinase-like vesicle-associated							82.0	84.0	83.0					3																	49896879		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49896879G>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1378C>A	3.37:g.49896879G>T	ENSP00000419195:p.Pro460Thr					TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P385T|CAMKV_uc003cxv.1_Missense_Mutation_p.P432T|CAMKV_uc003cxw.1_Missense_Mutation_p.P292T|CAMKV_uc003cxx.1_Missense_Mutation_p.P292T|CAMKV_uc003cxu.2_Missense_Mutation_p.P429T|CAMKV_uc011bcz.1_Missense_Mutation_p.P392T|CAMKV_uc011bda.1_Missense_Mutation_p.P386T	p.P460T	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	11	1571	-			460			Ala-rich.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.1378C>A	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502331	0.44455	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T	0.68624	0.27;-0.13;-0.13;-0.34;1.66	5.33	5.33	0.75918	.	0.000000	0.42294	D	0.000736	T	0.70185	0.3195	N	0.19112	0.55	0.37005	D	0.895451	D;D;D;D;D;P;D	0.89917	0.998;0.999;1.0;1.0;0.999;0.859;0.998	D;D;D;D;D;B;D	0.80764	0.981;0.991;0.994;0.994;0.991;0.373;0.981	T	0.76372	-0.2983	10	0.72032	D	0.01	.	14.3904	0.66975	0.0:0.0:1.0:0.0	.	386;392;460;385;432;429;460	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	T	432;429;460;385;386	ENSP00000296471:P432T;ENSP00000418809:P429T;ENSP00000419195:P460T;ENSP00000420053:P385T;ENSP00000420724:P386T	ENSP00000296471:P432T	P	-	1	0	CAMKV	49871883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.338000	0.52128	2.766000	0.95052	0.655000	0.94253	CCT		0.642	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		40	64	1	0	5.1965e-05	0.007835	5.84607e-05	40	64				
MAPKAPK3	7867	broad.mit.edu	37	3	50679165	50679165	+	Missense_Mutation	SNP	G	G	T	rs199541398		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:50679165G>T	ENST00000446044.1	+	6	983	c.387G>T	c.(385-387)agG>agT	p.R129S	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R129S	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.R129S(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGTTCAGCAGGATTCAGGAGC	0.532																																							uc003day.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(385-387)AGG>AGT		mitogen-activated protein kinase-activated							220.0	179.0	193.0					3																	50679165		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50679165G>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.387G>T	3.37:g.50679165G>T	ENSP00000396467:p.Arg129Ser					MAPKAPK3_uc003daz.1_Missense_Mutation_p.R129S|MAPKAPK3_uc003dba.1_Missense_Mutation_p.R129S|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.R129S	p.R129S	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	6	983	+			129			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.387G>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749463	0.69533	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.64803	-0.12;-0.12;-0.12	5.44	2.65	0.31530	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.82193	2.58	0.80722	D	1	D	0.59357	0.985	P	0.60236	0.871	T	0.72590	-0.4247	10	0.87932	D	0	-38.1788	5.8054	0.18438	0.2933:0.1298:0.577:0.0	.	129	Q16644	MAPK3_HUMAN	S	129	ENSP00000396467:R129S;ENSP00000410970:R129S;ENSP00000350639:R129S	ENSP00000350639:R129S	R	+	3	2	MAPKAPK3	50654169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.901000	0.28445	0.664000	0.31047	0.655000	0.94253	AGG		0.532	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		16	24	1	0	4.14922e-12	0.004007	5.75148e-12	16	24				
CACNA2D3	55799	broad.mit.edu	37	3	54596898	54596898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:54596898G>T	ENST00000474759.1	+	6	664	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D206Y|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D112Y	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	206						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D206Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTTTGACCGTGACCCATCTCT	0.408																																							uc003dhf.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(616-618)GAC>TAC		calcium channel, voltage-dependent, alpha							114.0	105.0	108.0					3																	54596898		1842	4086	5928	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54596898G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.616G>T	3.37:g.54596898G>T	ENSP00000419101:p.Asp206Tyr					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D112Y|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	p.D206Y	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	6	664	+			206			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.616G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967974	0.92855	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.62941	2.62;2.62;2.62;2.66;-0.01	5.82	5.82	0.92795	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88685	0.3205	10	0.66056	D	0.02	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	206	Q8IZS8	CA2D3_HUMAN	Y	206;206;206;112;112;112;111	ENSP00000389506:D206Y;ENSP00000419101:D206Y;ENSP00000288197:D206Y;ENSP00000417279:D112Y;ENSP00000418028:D112Y	ENSP00000288197:D206Y	D	+	1	0	CACNA2D3	54571938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.614000	0.98353	2.767000	0.95098	0.655000	0.94253	GAC		0.408	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			9	17	1	0	1.12685e-05	0.004482	1.2911e-05	9	17				
ARHGEF3	50650	broad.mit.edu	37	3	56779265	56779265	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:56779265C>T	ENST00000296315.3	-	7	1006	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D280N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D312N|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D286N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D251N|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D286N	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	280	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D280N(2)|p.D312N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCTGGATTATCATTTGGTGTG	0.448																																							uc003dig.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(838-840)GAT>AAT		Rho guanine nucleotide exchange factor 3 isoform							140.0	139.0	139.0					3																	56779265		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779265C>T	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.838G>A	3.37:g.56779265C>T	ENSP00000296315:p.Asp280Asn					ARHGEF3_uc011bew.1_Missense_Mutation_p.D280N|ARHGEF3_uc003dih.2_Missense_Mutation_p.D312N|ARHGEF3_uc011bev.1_Missense_Mutation_p.D251N|ARHGEF3_uc003dif.2_Missense_Mutation_p.D286N|ARHGEF3_uc010hmy.1_Missense_Mutation_p.D78N|ARHGEF3_uc003dii.2_Missense_Mutation_p.D280N	p.D280N	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	1007	-			280			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.838G>A	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296352	0.81025	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.096199	0.64402	D	0.000001	T	0.66896	0.2836	M	0.66297	2.02	0.80722	D	1	B;B;B;B;B;B;B	0.21147	0.052;0.029;0.042;0.016;0.042;0.052;0.042	B;B;B;B;B;B;B	0.28232	0.087;0.028;0.039;0.061;0.052;0.061;0.052	T	0.62205	-0.6903	10	0.51188	T	0.08	-4.5901	20.5471	0.99284	0.0:1.0:0.0:0.0	.	286;251;78;280;312;280;286	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	N	280;312;286;286;251;280	ENSP00000296315:D280N;ENSP00000341071:D312N;ENSP00000410922:D286N;ENSP00000420420:D286N;ENSP00000418826:D251N;ENSP00000417986:D280N	ENSP00000296315:D280N	D	-	1	0	ARHGEF3	56754305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		0.448	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		41	51	0	0	0	0.009718	0	41	51				
PDZRN3	23024	broad.mit.edu	37	3	73433556	73433556	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:73433556G>T	ENST00000263666.4	-	10	2275	c.2161C>A	c.(2161-2163)Ctg>Atg	p.L721M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.L443M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L378M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L438M|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.L378M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	721					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L721M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGTTGTGCAGCATCCAGGAC	0.597																																							uc003dpl.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2161-2163)CTG>ATG		PDZ domain containing ring finger 3							47.0	41.0	43.0					3																	73433556		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433556G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2161C>A	3.37:g.73433556G>T	ENSP00000263666:p.Leu721Met					PDZRN3_uc011bgh.1_Missense_Mutation_p.L378M|PDZRN3_uc010hoe.1_Missense_Mutation_p.L419M|PDZRN3_uc011bgf.1_Missense_Mutation_p.L438M|PDZRN3_uc011bgg.1_Missense_Mutation_p.L441M	p.L721M	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2257	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	721					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2161C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509166	0.44660	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.12255	2.7;3.4;3.29;3.29;3.41;3.4	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.30823	0.0777	L	0.61036	1.89	0.80722	D	1	P;D;D;D	0.89917	0.863;1.0;1.0;0.999	P;D;D;D	0.91635	0.729;0.999;0.992;0.997	T	0.01341	-1.1380	10	0.48119	T	0.1	.	9.1127	0.36737	0.1656:0.0:0.8344:0.0	.	443;438;438;721	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	M	721;443;378;378;438;419	ENSP00000263666:L721M;ENSP00000442026:L443M;ENSP00000418168:L378M;ENSP00000418484:L378M;ENSP00000418624:L438M;ENSP00000419250:L419M	ENSP00000263666:L721M	L	-	1	2	PDZRN3	73516246	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.510000	0.60455	2.276000	0.75962	0.591000	0.81541	CTG		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		14	24	1	0	0.000219431	0.00245	0.000242468	14	24				
ROBO1	6091	broad.mit.edu	37	3	78766425	78766425	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:78766425C>A	ENST00000464233.1	-	7	1030	c.917G>T	c.(916-918)aGa>aTa	p.R306I	ROBO1_ENST00000467549.1_Splice_Site_p.R267I|ROBO1_ENST00000495273.1_Splice_Site_p.R267I|ROBO1_ENST00000436010.2_Splice_Site_p.R267I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	306	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.R306I(2)|p.R267I(1)|p.R283I(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGATGTGTACCTGGATTTGGG	0.448																																							uc003dqe.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(916-918)AGA>ATA		roundabout 1 isoform a							256.0	251.0	252.0					3																	78766425		1980	4157	6137	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78766425C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.917+1G>T	3.37:g.78766425C>A						ROBO1_uc003dqb.2_Missense_Mutation_p.R267I|ROBO1_uc003dqc.2_Missense_Mutation_p.R267I|ROBO1_uc003dqd.2_Missense_Mutation_p.R267I|ROBO1_uc003dqf.1_5'Flank	p.R306I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	7	1125	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	306			Extracellular (Potential).|Ig-like C2-type 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.917G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705255	0.89018	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;D;D	0.85013	-0.48;0.65;-1.93;-1.93	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89163	3.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94166	0.7419	9	.	.	.	.	19.4858	0.95028	0.0:1.0:0.0:0.0	.	306;267;267;267	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	I	267;267;306;267;267;306	ENSP00000406043:R267I;ENSP00000420321:R306I;ENSP00000420637:R267I;ENSP00000417992:R267I	.	R	-	2	0	ROBO1	78849115	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.263000	0.78421	2.607000	0.88179	0.462000	0.41574	AGA		0.448	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Missense_Mutation	56	104	1	0	2.3441e-25	0.00361	4.10052e-25	56	104				
ZBTB11	27107	broad.mit.edu	37	3	101370100	101370100	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:101370100T>A	ENST00000312938.4	-	11	3652	c.3072A>T	c.(3070-3072)ttA>ttT	p.L1024F		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1024					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1024F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGTTGTGCTAATACATAAT	0.383																																							uc003dve.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3070-3072)TTA>TTT		zinc finger protein ZNF-U69274							133.0	129.0	130.0					3																	101370100		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370100T>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3072A>T	3.37:g.101370100T>A	ENSP00000326200:p.Leu1024Phe						p.L1024F	NM_014415	NP_055230	O95625	ZBT11_HUMAN			11	3302	-			1024					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.3072A>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.664024	0.67700	.	.	ENSG00000066422	ENST00000312938	T	0.15256	2.44	5.39	2.65	0.31530	.	0.000000	0.64402	D	0.000002	T	0.24122	0.0584	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02868	-1.1100	10	0.41790	T	0.15	-7.0116	5.2241	0.15385	0.2382:0.5593:0.0:0.2024	.	1024	O95625	ZBT11_HUMAN	F	1024	ENSP00000326200:L1024F	ENSP00000326200:L1024F	L	-	3	2	ZBTB11	102852790	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	1.468000	0.35332	0.365000	0.24400	-0.239000	0.12128	TTA		0.383	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		33	79	0	0	0	0.002836	0	33	79				
MYLK	4638	broad.mit.edu	37	3	123456294	123456294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:123456294C>A	ENST00000475616.1	-	5	684	c.685G>T	c.(685-687)Gga>Tga	p.G229*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.G229*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.G229*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.G229*|MYLK_ENST00000360772.3_Nonsense_Mutation_p.G229*			Q15746	MYLK_HUMAN	myosin light chain kinase	229	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.G229*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGTACACTCCCACGTCATCT	0.557																																							uc003ego.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(685-687)GGA>TGA		myosin light chain kinase isoform 1							263.0	194.0	218.0					3																	123456294		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456294C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.685G>T	3.37:g.123456294C>A	ENSP00000418335:p.Gly229*					MYLK_uc011bjw.1_Nonsense_Mutation_p.G229*|MYLK_uc003egp.2_Nonsense_Mutation_p.G229*|MYLK_uc003egq.2_Nonsense_Mutation_p.G229*|MYLK_uc003egr.2_Nonsense_Mutation_p.G229*|MYLK_uc003egs.2_Nonsense_Mutation_p.G53*|MYLK_uc010hrs.1_Nonsense_Mutation_p.G229*	p.G229*	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	8	967	-		Lung NSC(201;0.0496)	229			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.685G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833341	0.91036	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6601	0.88191	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000320622:G229X	G	-	1	0	MYLK	124938984	1.000000	0.71417	0.476000	0.27291	0.030000	0.12068	5.632000	0.67819	2.705000	0.92388	0.655000	0.94253	GGA		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		26	72	1	0	4.26978e-12	0.00333	5.89229e-12	26	72				
SOX14	8403	broad.mit.edu	37	3	137484280	137484280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:137484280C>A	ENST00000306087.1	+	1	702	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	218					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y218*(1)		large_intestine(2)|lung(12)	14						CCGTCGCCTACATCCTCTTCC	0.652																																							uc003erm.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(652-654)TAC>TAA		SRY-box 14							48.0	37.0	41.0					3																	137484280		2201	4293	6494	SO:0001587	stop_gained	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484280C>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.654C>A	3.37:g.137484280C>A	ENSP00000305343:p.Tyr218*						p.Y218*	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	702	+			218					B2RAC0|Q3KPH7	Nonsense_Mutation	SNP	ENST00000306087.1	37	c.654C>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834323	0.71373	.	.	ENSG00000168875	ENST00000306087	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2392	0.87008	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000305343:Y218X	Y	+	3	2	SOX14	138966970	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.881000	0.69706	2.298000	0.77334	0.511000	0.50034	TAC		0.652	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		15	18	1	0	7.93312e-07	0.00245	9.54742e-07	15	18				
DZIP1L	199221	broad.mit.edu	37	3	137822452	137822452	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:137822452T>A	ENST00000327532.2	-	2	724	c.362A>T	c.(361-363)cAg>cTg	p.Q121L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q121L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	121					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q121L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACGCTGCTGCTGGCCCAGGCT	0.662																																							uc003erq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(361-363)CAG>CTG		DAZ interacting protein 1-like							20.0	17.0	18.0					3																	137822452		2203	4297	6500	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137822452T>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.362A>T	3.37:g.137822452T>A	ENSP00000332148:p.Gln121Leu					DZIP1L_uc003err.1_Missense_Mutation_p.Q121L	p.Q121L	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			2	725	-			121					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.362A>T	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573396	0.65765	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.40756	1.02;1.02	5.19	5.19	0.71726	.	0.205118	0.32273	N	0.006329	T	0.56963	0.2021	L	0.47716	1.5	0.40152	D	0.976963	P;D	0.76494	0.611;0.999	B;D	0.71870	0.242;0.975	T	0.60890	-0.7173	10	0.62326	D	0.03	-21.4304	14.7003	0.69152	0.0:0.0:0.0:1.0	.	121;121	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	L	121	ENSP00000332148:Q121L;ENSP00000419486:Q121L	ENSP00000332148:Q121L	Q	-	2	0	DZIP1L	139305142	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.377000	0.66184	1.954000	0.56735	0.533000	0.62120	CAG		0.662	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		5	7	0	0	0	0.00308	0	5	7				
ZIC4	84107	broad.mit.edu	37	3	147108946	147108946	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:147108946G>T	ENST00000383075.3	-	4	1288	c.776C>A	c.(775-777)aCt>aAt	p.T259N	ZIC4_ENST00000484399.1_Missense_Mutation_p.T259N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T259N|ZIC4_ENST00000525172.2_Missense_Mutation_p.T309N|ZIC4_ENST00000491672.1_Missense_Mutation_p.T53N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.T297N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	259						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T259N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTTGTCGCTAGTGTGCACGTG	0.637																																							uc003ewd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(775-777)ACT>AAT		zinc finger protein of the cerebellum 4							38.0	42.0	41.0					3																	147108946		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108946G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.776C>A	3.37:g.147108946G>T	ENSP00000372553:p.Thr259Asn					ZIC4_uc003ewc.1_Missense_Mutation_p.T189N|ZIC4_uc011bno.1_Missense_Mutation_p.T309N	p.T259N	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1049	-			259					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.776C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628021	0.87560	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.19394	2.65;2.15;2.15;2.65;2.65;2.65	4.85	4.85	0.62838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000233	T	0.48892	0.1525	M	0.74546	2.27	0.47737	D	0.999502	B;D	0.71674	0.071;0.998	B;D	0.87578	0.308;0.998	T	0.56147	-0.8027	9	0.87932	D	0	.	17.9625	0.89090	0.0:0.0:1.0:0.0	.	309;259	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	N	259;297;309;259;259;53	ENSP00000372553:T259N;ENSP00000397695:T297N;ENSP00000435509:T309N;ENSP00000417855:T259N;ENSP00000420775:T259N;ENSP00000418277:T53N	ENSP00000372553:T259N	T	-	2	0	ZIC4	148591636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.757000	0.85209	2.229000	0.72834	0.462000	0.41574	ACT		0.637	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			12	22	1	0	3.07112e-06	0.010729	3.61891e-06	12	22				
ZIC4	84107	broad.mit.edu	37	3	147114004	147114004	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:147114004G>C	ENST00000383075.3	-	3	835	c.323C>G	c.(322-324)gCt>gGt	p.A108G	ZIC4_ENST00000484399.1_Missense_Mutation_p.A108G|ZIC4_ENST00000473123.1_Missense_Mutation_p.A108G|ZIC4_ENST00000525172.2_Missense_Mutation_p.A158G|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A146G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	108						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A108G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGGGGCGCAGCGAGGTTCAC	0.711																																							uc003ewd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(322-324)GCT>GGT		zinc finger protein of the cerebellum 4							25.0	30.0	28.0					3																	147114004		2191	4294	6485	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114004G>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.323C>G	3.37:g.147114004G>C	ENSP00000372553:p.Ala108Gly					ZIC4_uc003ewc.1_Missense_Mutation_p.A38G|ZIC4_uc011bno.1_Missense_Mutation_p.A158G	p.A108G	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	596	-			108					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.323C>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138213	0.77775	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	4.98	4.98	0.66077	.	0.302044	0.23187	N	0.050955	T	0.30070	0.0753	L	0.40543	1.245	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.05068	-1.0908	10	0.45353	T	0.12	.	18.2471	0.89989	0.0:0.0:1.0:0.0	.	158;108	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	G	108;146;158;108;108;108	ENSP00000372553:A108G;ENSP00000397695:A146G;ENSP00000435509:A158G;ENSP00000417855:A108G;ENSP00000420775:A108G;ENSP00000420627:A108G	ENSP00000372553:A108G	A	-	2	0	ZIC4	148596694	1.000000	0.71417	0.948000	0.38648	0.958000	0.62258	5.771000	0.68881	2.299000	0.77371	0.561000	0.74099	GCT		0.711	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			9	12	0	0	0	0.004482	0	9	12				
SHOX2	6474	broad.mit.edu	37	3	157820574	157820574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:157820574C>A	ENST00000425436.3	-	2	473	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.E174*|SHOX2_ENST00000483851.2_Nonsense_Mutation_p.E150*|SHOX2_ENST00000490689.2_Nonsense_Mutation_p.E21*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.E21*	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	150					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E21*(1)|p.E174*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572																																							uc003fbr.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(448-450)GAA>TAA		short stature homeobox 2 isoform a							179.0	146.0	157.0					3																	157820574		2203	4300	6503	SO:0001587	stop_gained	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820574C>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.448G>T	3.37:g.157820574C>A	ENSP00000398704:p.Glu150*					SHOX2_uc003fbs.2_Nonsense_Mutation_p.E174*|SHOX2_uc010hvw.2_Nonsense_Mutation_p.E150*	p.E150*	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	587	-			150			Homeobox.		O60465|O60467|O60903	Nonsense_Mutation	SNP	ENST00000425436.3	37	c.448G>T	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.656878|8.656878	0.98903|0.98903	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851|ENST00000555977	.|.	.|.	.|.	5.49|5.49	4.62|4.62	0.57501|0.57501	.|.	0.061388|.	0.64402|.	D|.	0.000008|.	.|T	.|0.64811	.|0.2632	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70956	.|-0.4731	.|3	0.48119|.	T|.	0.1|.	.|.	14.2991|14.2991	0.66334|0.66334	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.	.|.	.|.	.|.	X|V	174;21;150;21;21;150|53	.|.	ENSP00000327294:E21X|.	E|G	-|-	1|2	0|0	SHOX2;AC112502.1|SHOX2	159303268|159303268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.920000|5.920000	0.70017|0.70017	1.320000|1.320000	0.45209|0.45209	-0.140000|-0.140000	0.14226|0.14226	GAA|GGA		0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			32	34	1	0	8.16721e-17	0.010818	1.27114e-16	32	34				
SLITRK3	22865	broad.mit.edu	37	3	164907292	164907292	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:164907292G>T	ENST00000475390.1	-	2	1770	c.1327C>A	c.(1327-1329)Cgt>Agt	p.R443S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R443S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	443					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R443S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGGAAATACGATTGTTCCCC	0.408										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1327-1329)CGT>AGT		slit and trk like 3 protein precursor							49.0	51.0	50.0					3																	164907292		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907292G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1327C>A	3.37:g.164907292G>T	ENSP00000420091:p.Arg443Ser	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R443S	p.R443S	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1771	-			443			LRR 8.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1327C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433281	0.62844	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58652	0.32;0.32	5.58	5.58	0.84498	.	0.000000	0.38436	N	0.001698	T	0.49677	0.1571	N	0.05414	-0.055	0.58432	D	0.999997	D	0.53462	0.96	P	0.52646	0.705	T	0.55673	-0.8104	10	0.52906	T	0.07	-15.656	15.3002	0.73945	0.0:0.0:0.8596:0.1404	.	443	O94933	SLIK3_HUMAN	S	443	ENSP00000420091:R443S;ENSP00000241274:R443S	ENSP00000241274:R443S	R	-	1	0	SLITRK3	166389986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.472000	0.73567	2.906000	0.99361	0.655000	0.94253	CGT		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		21	31	1	0	2.37509e-13	0.010504	3.38287e-13	21	31				
DVL3	1857	broad.mit.edu	37	3	183888495	183888495	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:183888495C>T	ENST00000313143.3	+	15	2351	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.F684F	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	701				PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.F701F(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GACAGTCCTTCCGCATGGCCA	0.701																																							uc003fms.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2101-2103)TTC>TTT		dishevelled 3							27.0	23.0	25.0					3																	183888495		2167	4229	6396	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183888495C>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.2103C>T	3.37:g.183888495C>T						DVL3_uc011bqw.1_Silent_p.F684F|DVL3_uc003fmt.2_Silent_p.F372F|DVL3_uc003fmu.2_Silent_p.F533F	p.F701F	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		15	2243	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		701	PPGRDLASVPPELTASRQSFRMAMGNPSEFFVDVM -> LR AATWPQCPRN (in Ref. 4; BAA13199).				B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.2103C>T	CCDS3253.1																																																																																				0.701	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		11	6	0	0	0	0.001368	0	11	6				
AHSG	197	broad.mit.edu	37	3	186333533	186333533	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:186333533G>T	ENST00000273784.5	+	2	349	c.273G>T	c.(271-273)gtG>gtT	p.V91V	AHSG_ENST00000411641.2_Silent_p.V91V	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	91	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.V91V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCTGCCATGTGCTGGACCCCA	0.567																																							uc003fqk.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)GTG>GTT		alpha-2-HS-glycoprotein							84.0	81.0	82.0					3																	186333533		2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186333533G>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.273G>T	3.37:g.186333533G>T						AHSG_uc003fqj.2_Silent_p.V91V|AHSG_uc003fql.3_Silent_p.V91V|AHSG_uc003fqm.3_Silent_p.V90V|AHSG_uc010hyp.2_Intron	p.V91V	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	2	354	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		91			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.273G>T																																																																																					0.567	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		20	19	1	0	1.50039e-11	0.012319	2.0523e-11	20	19				
HRG	3273	broad.mit.edu	37	3	186395105	186395105	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:186395105C>A	ENST00000232003.4	+	7	1091	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.A337A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAAATGGGGCCCAAAGACATT	0.502																																							uc003fqq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1009-1011)GCC>GCA		histidine-rich glycoprotein precursor							143.0	136.0	138.0					3																	186395105		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395105C>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1011C>A	3.37:g.186395105C>A							p.A337A	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1034	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		337					B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.1011C>A	CCDS3280.1																																																																																				0.502	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		14	16	1	0	1.3612e-06	0.003163	1.62872e-06	14	16				
XXYLT1	152002	broad.mit.edu	37	3	194991426	194991426	+	Missense_Mutation	SNP	G	G	T	rs376126877		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:194991426G>T	ENST00000310380.6	-	1	470	c.362C>A	c.(361-363)gCg>gAg	p.A121E		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	121						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.A121E(1)									TGAGCGCAGCGCGACGCGGGC	0.682																																							uc003fum.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GCG>GAG		hypothetical protein LOC152002							10.0	11.0	11.0					3																	194991426		1844	3966	5810	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991426G>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.362C>A	3.37:g.194991426G>T	ENSP00000309640:p.Ala121Glu						p.A121E	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	1	470	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		121					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.362C>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877283	0.72294	.	.	ENSG00000173950	ENST00000310380	T	0.25414	1.8	4.64	3.75	0.43078	.	0.107611	0.64402	D	0.000005	T	0.32852	0.0843	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03268	-1.1054	10	0.28530	T	0.3	-7.9327	9.778	0.40632	0.0:0.1523:0.6905:0.1572	.	121	Q8NBI6	XXLT1_HUMAN	E	121	ENSP00000309640:A121E	ENSP00000309640:A121E	A	-	2	0	C3orf21	196472715	1.000000	0.71417	0.966000	0.40874	0.980000	0.70556	6.011000	0.70760	1.272000	0.44329	0.650000	0.86243	GCG		0.682	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		7	17	1	0	3.09899e-07	0.004482	3.77347e-07	7	17				
MFSD7	84179	broad.mit.edu	37	4	680325	680325	+	Missense_Mutation	SNP	G	G	A	rs139449222		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:680325G>A	ENST00000404286.2	-	2	305	c.290C>T	c.(289-291)gCg>gTg	p.A97V	MFSD7_ENST00000322224.4_Missense_Mutation_p.A97V|MFSD7_ENST00000347950.5_Missense_Mutation_p.A75V|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000503156.1_Missense_Mutation_p.A33V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A97V	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	97					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A97V(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACTCACCGCCGCACGGAGCCC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16158	0.0		0.0	False		,,,				2504	0.0						uc003gay.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GCG>GTG		major facilitator superfamily domain containing		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	66.0	67.0		290	-0.9	0.0	4	dbSNP_134	67	0,8600		0,0,4300	no	missense	MFSD7	NM_032219.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	97/560	680325	1,13005	2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680325G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.290C>T	4.37:g.680325G>A	ENSP00000384616:p.Ala97Val					MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A97V|MFSD7_uc003gaz.2_Missense_Mutation_p.A75V|MFSD7_uc003gba.2_Missense_Mutation_p.A97V|MFSD7_uc003gbb.1_Missense_Mutation_p.A33V	p.A97V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			2	347	-			97					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.290C>T		.	.	.	.	.	.	.	.	.	.	G	2.311	-0.357984	0.05138	2.27E-4	0.0	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249;ENST00000507165	T;T;T;T;T;T;T	0.59224	0.28;0.38;0.38;0.28;0.38;0.33;0.38	4.45	-0.908	0.10517	Major facilitator superfamily domain, general substrate transporter (1);	0.923280	0.09337	N	0.816042	T	0.22399	0.0540	N	0.02960	-0.455	0.09310	N	1	B;B;B;B;B	0.34372	0.269;0.006;0.006;0.307;0.451	B;B;B;B;B	0.30179	0.067;0.002;0.002;0.112;0.03	T	0.11446	-1.0587	10	0.16420	T	0.52	-0.2818	1.3822	0.02233	0.156:0.3301:0.3111:0.2028	.	33;97;75;97;97	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	V	75;97;97;97;33;97;33	ENSP00000307545:A75V;ENSP00000320234:A97V;ENSP00000384616:A97V;ENSP00000423204:A97V;ENSP00000425753:A33V;ENSP00000425038:A97V;ENSP00000424556:A33V	ENSP00000320234:A97V	A	-	2	0	MFSD7	670325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.171000	0.16685	-0.355000	0.08199	-1.036000	0.02392	GCG		0.662	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		20	31	0	0	0	0.010504	0	20	31				
NELFA	7469	broad.mit.edu	37	4	1989724	1989724	+	Silent	SNP	G	G	A	rs536359664		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:1989724G>A	ENST00000411638.2	-	4	570	c.555C>T	c.(553-555)acC>acT	p.T185T	NELFA_ENST00000542778.1_Silent_p.T50T|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.T196T	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	185					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T185T(1)									ACTGCTGGGCGGTCTCCGTGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.001						uc003gem.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(586-588)ACC>ACT		Wolf-Hirschhorn syndrome candidate 2 protein							28.0	34.0	32.0					4																	1989724		2203	4300	6503	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1989724G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.555C>T	4.37:g.1989724G>A						WHSC2_uc003gek.2_5'Flank|WHSC2_uc003gel.2_Silent_p.T110T|WHSC2_uc003gen.2_Silent_p.T50T|MIR943_hsa-mir-943|MI0005768_5'Flank	p.T196T	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		4	828	-			185					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.588C>T		.	.	.	.	.	.	.	.	.	.	G	4.538	0.099837	0.08681	.	.	ENSG00000185049	ENST00000453740;ENST00000411649	.	.	.	5.0	-10.0	0.00425	.	.	.	.	.	T	0.33789	0.0875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58956	-0.7544	4	.	.	.	-21.7862	2.378	0.04346	0.4389:0.2141:0.0702:0.2768	.	.	.	.	L	86;169	.	.	P	-	2	0	WHSC2	1959522	0.000000	0.05858	0.014000	0.15608	0.578000	0.36192	-4.746000	0.00191	-5.307000	0.00017	-1.087000	0.02190	CCG		0.617	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		3	10	0	0	0	0.004672	0	3	10				
BOD1L1	259282	broad.mit.edu	37	4	13601770	13601770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:13601770C>A	ENST00000040738.5	-	10	6889	c.6754G>T	c.(6754-6756)Ggg>Tgg	p.G2252W		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2252						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G2252W(1)									ATGCCACTCCCGTCTTTTTCT	0.527																																							uc003gmz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(6754-6756)GGG>TGG		biorientation of chromosomes in cell division							86.0	74.0	78.0					4																	13601770		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601770C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6754G>T	4.37:g.13601770C>A	ENSP00000040738:p.Gly2252Trp					BOD1L_uc010idr.1_Missense_Mutation_p.G1589W	p.G2252W	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6871	-			2252					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6754G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711188	0.68730	.	.	ENSG00000038219	ENST00000040738	T	0.09163	3.01	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000067	T	0.32406	0.0828	M	0.62723	1.935	0.34646	D	0.721107	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.87932	D	0	-6.6135	17.4836	0.87682	0.0:1.0:0.0:0.0	.	2252	Q8NFC6	BOD1L_HUMAN	W	2252	ENSP00000040738:G2252W	ENSP00000040738:G2252W	G	-	1	0	BOD1L	13210868	0.826000	0.29277	0.442000	0.26870	0.750000	0.42670	3.262000	0.51538	2.573000	0.86826	0.650000	0.86243	GGG		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	11	1	0	0.00448238	0.004482	0.00470991	9	11				
TBC1D19	55296	broad.mit.edu	37	4	26661218	26661219	+	Splice_Site	DNP	GG	GG	TT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:26661218_26661219GG>TT	ENST00000264866.4	+	8	758_759	c.480_481GG>TT	c.(478-483)gaGGta>gaTTta	p.160_161EV>DL	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Splice_Site_p.95_96EV>DL	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	160							Rab GTPase activator activity (GO:0005097)	p.?(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGTTTTTAAAGGTATTAATTAA	0.302																																							uc003gsf.3		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e8-1		TBC1 domain family, member 19																																				SO:0001630	splice_region_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26661218_26661219GG>TT	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	Exception_encountered	4.37:g.26661218_26661219delinsTT						TBC1D19_uc010iew.2_Splice_Site_p.V161_splice|TBC1D19_uc011bxu.1_Splice_Site_p.V96_splice	p.V161_splice	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN			8	751	+		Breast(46;0.0503)						B9A6M0|Q9NUX1	Splice_Site	DNP	ENST00000264866.4	37	c.481_splice	CCDS3439.1																																																																																				0.302	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317	Missense_Mutation	4	32	0	0	0	0.004672	0	4	32				
TBC1D1	23216	broad.mit.edu	37	4	37962455	37962455	+	Intron	SNP	C	C	G	rs201888084		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:37962455C>G	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Missense_Mutation_p.R134G|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.R134G(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCCTGAAGAGCGCCAGATTGC	0.483																																							uc011bye.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(400-402)CGC>GGC		pituitary tumor-transforming 2							102.0	104.0	103.0					4																	37962455		2203	4300	6503	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962455C>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53675C>G	4.37:g.37962455C>G						TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	p.R134G	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			1	400	+			134					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.400C>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	7.686	0.690100	0.15039	.	.	ENSG00000250254	ENST00000504686	T	0.41758	0.99	1.24	1.24	0.21308	.	.	.	.	.	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.18808	-1.0325	9	0.72032	D	0.01	.	5.9177	0.19063	0.0:1.0:0.0:0.0	.	134	Q9NZH5-2	.	G	134	ENSP00000424261:R134G	ENSP00000424261:R134G	R	+	1	0	PTTG2	37638850	0.585000	0.26774	0.356000	0.25785	0.116000	0.19942	1.436000	0.34980	1.025000	0.39708	0.461000	0.40582	CGC		0.483	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		19	55	0	0	0	0.007413	0	19	55				
GABRB1	2560	broad.mit.edu	37	4	47405585	47405585	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:47405585C>A	ENST00000295454.3	+	7	984	c.692C>A	c.(691-693)cCa>cAa	p.P231Q	GABRB1_ENST00000538619.1_Missense_Mutation_p.P161Q	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	231					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.P231Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAGCGTATCCACGACTGTCA	0.413																																							uc003gxh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(691-693)CCA>CAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						177.0	156.0	163.0					4																	47405585		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405585C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.692C>A	4.37:g.47405585C>A	ENSP00000295454:p.Pro231Gln					GABRB1_uc011bze.1_Missense_Mutation_p.P161Q	p.P231Q	NM_000812	NP_000803	P18505	GBRB1_HUMAN			7	1066	+			231			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.692C>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415494	0.42817	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.78246	-1.16;-1.16	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	L	0.38733	1.17	0.80722	D	1	B;D	0.89917	0.296;1.0	B;D	0.91635	0.166;0.999	T	0.80130	-0.1511	10	0.30078	T	0.28	-12.9734	19.428	0.94751	0.0:1.0:0.0:0.0	.	161;231	F5GXV5;P18505	.;GBRB1_HUMAN	Q	231;161	ENSP00000295454:P231Q;ENSP00000440330:P161Q	ENSP00000295454:P231Q	P	+	2	0	GABRB1	47100342	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	CCA		0.413	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			35	28	1	0	1.30998e-17	0.005524	2.07525e-17	35	28				
KDR	3791	broad.mit.edu	37	4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1192-1194)GTC>GCC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						161.0	136.0	144.0					4																	55976632		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55976632A>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1193T>C	4.37:g.55976632A>G	ENSP00000263923:p.Val398Ala	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.V398A|KDR_uc011bzx.1_Missense_Mutation_p.V398A	p.V398A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		9	1495	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		398			Ig-like C2-type 4.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1193T>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212601	0.39102	.	.	ENSG00000128052	ENST00000263923	T	0.80214	-1.35	5.81	4.61	0.57282	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.252926	0.39083	N	0.001480	T	0.80607	0.4655	L	0.60845	1.875	0.37749	D	0.925896	P;P	0.49559	0.925;0.879	B;P	0.47864	0.343;0.559	T	0.83140	-0.0109	10	0.72032	D	0.01	.	11.021	0.47718	0.8611:0.0:0.0:0.1389	.	398;398	P35968-2;P35968	.;VGFR2_HUMAN	A	398	ENSP00000263923:V398A	ENSP00000263923:V398A	V	-	2	0	KDR	55671389	1.000000	0.71417	0.115000	0.21578	0.006000	0.05464	8.426000	0.90273	0.999000	0.39023	-0.490000	0.04691	GTC		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			33	30	0	0	0	0.00623	0	33	30				
TECRL	253017	broad.mit.edu	37	4	65147209	65147209	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:65147209G>C	ENST00000381210.3	-	10	1011	c.901C>G	c.(901-903)Cct>Gct	p.P301A	TECRL_ENST00000507440.1_Missense_Mutation_p.P301A	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	301					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.P301A(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGTAGTTAGGACATGAAACC	0.318																																							uc003hcv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(901-903)CCT>GCT		steroid 5 alpha-reductase 2-like 2							98.0	96.0	96.0					4																	65147209		2203	4299	6502	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147209G>C	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.901C>G	4.37:g.65147209G>C	ENSP00000370607:p.Pro301Ala					TECRL_uc010ihi.2_RNA	p.P301A	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			10	1010	-			301						Missense_Mutation	SNP	ENST00000381210.3	37	c.901C>G	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593071	0.66219	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.37235	1.21;1.21	5.55	5.55	0.83447	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	L	0.52011	1.625	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	T	0.44314	-0.9336	10	0.35671	T	0.21	-16.8215	15.0736	0.72059	0.0:0.0:1.0:0.0	.	301	Q5HYJ1	TECRL_HUMAN	A	301;301;16	ENSP00000426043:P301A;ENSP00000370607:P301A	ENSP00000370607:P301A	P	-	1	0	TECRL	64829804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.870000	0.75526	2.614000	0.88457	0.644000	0.83932	CCT		0.318	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		9	32	0	0	0	0.008291	0	9	32				
TMPRSS11E	28983	broad.mit.edu	37	4	69340476	69340476	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:69340476C>A	ENST00000305363.4	+	6	590	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	176					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.H176N(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTATCTAAACCATTGTAAGtt	0.338																																							uc003hdz.3		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(526-528)CAT>AAT		transmembrane protease, serine 11E							103.0	111.0	109.0					4																	69340476		2203	4300	6503	SO:0001583	missense	0							g.chr4:69340476C>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.526C>A	4.37:g.69340476C>A	ENSP00000307519:p.His176Asn						p.H176N	NM_014058	NP_054777					6	590	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.526C>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	0.718	-0.784525	0.02907	.	.	ENSG00000087128	ENST00000305363	T	0.58652	0.32	5.7	1.8	0.24995	.	0.757963	0.11817	N	0.526623	T	0.34135	0.0887	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.15499	T	0.54	.	11.2614	0.49085	0.4886:0.5114:0.0:0.0	.	176	Q9UL52	TM11E_HUMAN	N	176	ENSP00000307519:H176N	ENSP00000307519:H176N	H	+	1	0	TMPRSS11E	69023071	0.642000	0.27260	0.269000	0.24586	0.039000	0.13416	1.295000	0.33377	0.074000	0.16767	-0.262000	0.10625	CAT		0.338	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		31	106	1	0	6.00712e-18	0.012213	9.68941e-18	31	106				
UGT2B10	7365	broad.mit.edu	37	4	69682288	69682288	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:69682288G>C	ENST00000265403.7	+	1	578	c.551G>C	c.(550-552)gGa>gCa	p.G184A	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	184					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G184A(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGCACAGTGGAGGATTTATT	0.413																																					Melanoma(133;755 1763 25578 26334 46021)	Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(550-552)GGA>GCA		UDP glucuronosyltransferase 2B10 isoform 1							112.0	111.0	111.0					4																	69682288		2202	4296	6498	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682288G>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.551G>C	4.37:g.69682288G>C	ENSP00000265403:p.Gly184Ala					UGT2B10_uc011cam.1_Intron	p.G184A	NM_001075	NP_001066	P36537	UDB10_HUMAN			1	576	+			184					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.551G>C		.	.	.	.	.	.	.	.	.	.	g	12.52	1.962212	0.34659	.	.	ENSG00000109181	ENST00000265403	T	0.64085	-0.08	2.63	1.75	0.24633	.	0.000000	0.64402	U	0.000006	T	0.58090	0.2098	L	0.46670	1.46	0.80722	D	1	P	0.40180	0.705	P	0.46975	0.533	T	0.50294	-0.8845	10	0.32370	T	0.25	.	9.0366	0.36291	0.0:0.228:0.7719:0.0	.	184	P36537	UDB10_HUMAN	A	184	ENSP00000265403:G184A	ENSP00000265403:G184A	G	+	2	0	UGT2B10	69716877	1.000000	0.71417	0.003000	0.11579	0.019000	0.09904	4.206000	0.58473	0.284000	0.22305	0.184000	0.17185	GGA		0.413	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		50	49	0	0	0	0.00361	0	50	49				
CSN2	1447	broad.mit.edu	37	4	70823408	70823408	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:70823408G>A	ENST00000353151.3	-	5	270	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.P87S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACCACAGCAGGCTGAGCAAGA	0.473																																							uc003hes.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)CCT>TCT		casein beta precursor							123.0	116.0	118.0					4																	70823408		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823408G>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.259C>T	4.37:g.70823408G>A	ENSP00000341030:p.Pro87Ser					CSN2_uc003het.3_Missense_Mutation_p.P86S	p.P87S	NM_001891	NP_001882	P05814	CASB_HUMAN			5	272	-			87					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.259C>T	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252567	0.39797	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.05	2.28	0.28536	.	0.912564	0.09151	N	0.841571	T	0.36303	0.0962	M	0.65498	2.005	0.09310	N	1	P	0.46912	0.886	B	0.40982	0.345	T	0.27673	-1.0067	9	0.72032	D	0.01	-16.2512	6.9962	0.24784	0.0:0.1929:0.6073:0.1999	.	87	P05814	CASB_HUMAN	S	87	.	ENSP00000341030:P87S	P	-	1	0	CSN2	70857997	0.000000	0.05858	0.112000	0.21494	0.033000	0.12548	-0.083000	0.11286	0.641000	0.30601	-0.182000	0.12963	CCT		0.473	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			13	48	0	0	0	0.00245	0	13	48				
GRSF1	2926	broad.mit.edu	37	4	71701992	71701992	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:71701992G>A	ENST00000254799.6	-	2	514	c.397C>T	c.(397-399)Cct>Tct	p.P133S	GRSF1_ENST00000545193.1_Missense_Mutation_p.P15S|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	133	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P133S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCATACTCAGGGGGTGGTGGA	0.423																																							uc010iia.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(397-399)CCT>TCT		G-rich RNA sequence binding factor 1 isoform 1							80.0	82.0	81.0					4																	71701992		1848	4091	5939	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71701992G>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.397C>T	4.37:g.71701992G>A	ENSP00000254799:p.Pro133Ser					GRSF1_uc011caz.1_Missense_Mutation_p.P15S|GRSF1_uc003hfs.2_5'UTR	p.P133S	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		2	480	-		all_hematologic(202;0.21)	133			RRM 1.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.397C>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797366	0.16327	.	.	ENSG00000132463	ENST00000254799;ENST00000540657;ENST00000499044;ENST00000545193	T;T;T	0.23147	2.17;1.92;2.03	4.51	4.51	0.55191	RNA recognition motif domain (1);	0.431079	0.20776	N	0.085890	T	0.23611	0.0571	L	0.54323	1.7	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.07481	-1.0770	10	0.52906	T	0.07	-0.604	8.1509	0.31141	0.0883:0.1621:0.7496:0.0	.	46;133	B7Z5F9;Q12849	.;GRSF1_HUMAN	S	133;65;106;15	ENSP00000254799:P133S;ENSP00000427354:P106S;ENSP00000443380:P15S	ENSP00000254799:P133S	P	-	1	0	GRSF1	71920856	0.996000	0.38824	0.358000	0.25811	0.041000	0.13682	1.689000	0.37700	2.320000	0.78422	0.655000	0.94253	CCT		0.423	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		7	41	0	0	0	0.00308	0	7	41				
ADH1C	126	broad.mit.edu	37	4	100268269	100268269	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:100268269C>A	ENST00000510055.1	-	0	327				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TAACCACATGCTCATCTGAAC	0.468																																							uc003huu.2		NA																	0					0						c.(151-153)GAG>GAT		class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)						136.0	137.0	137.0					4																	100268269		2203	4300	6503			126	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268269C>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268269C>A							p.E51D	NM_000669	NP_000660	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	3	238	-			51					Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.153G>T																																																																																					0.468	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		30	91	1	0	6.07407e-21	0.007291	1.025e-20	30	91				
ZGRF1	55345	broad.mit.edu	37	4	113541332	113541332	+	Missense_Mutation	SNP	A	A	T	rs143057821		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:113541332A>T	ENST00000505019.1	-	5	302	c.177T>A	c.(175-177)gaT>gaA	p.D59E	C4orf21_ENST00000445203.2_Missense_Mutation_p.D28E|C4orf21_ENST00000309071.5_Missense_Mutation_p.D59E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		59						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D59E(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCTAAGTCATCTCCAGGTT	0.353																																							uc003iau.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)GAT>GAA		prematurely terminated mRNA decay factor-like							78.0	75.0	76.0					4																	113541332		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113541332A>T																												ENST00000505019.1:c.177T>A	4.37:g.113541332A>T	ENSP00000424737:p.Asp59Glu					C4orf21_uc003iaw.2_Missense_Mutation_p.D59E	p.D59E	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	5	388	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.177T>A		.	.	.	.	.	.	.	.	.	.	A	20.5	3.995382	0.74703	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.85484	-1.99;1.77;0.56	5.58	3.13	0.36017	Domain of unknown function DUF2439 (1);	0.000000	0.64402	D	0.000010	D	0.88055	0.6334	L	0.45470	1.425	0.26412	N	0.97625	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79743	-0.1675	10	0.51188	T	0.08	-28.4842	9.7342	0.40377	0.8593:0.0:0.1407:0.0	.	59;59	Q86YA3;G5EA02	CD021_HUMAN;.	E	59;59;28;59	ENSP00000424737:D59E;ENSP00000309095:D59E;ENSP00000390505:D28E	ENSP00000309095:D59E	D	-	3	2	C4orf21	113760781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.824000	0.27379	0.401000	0.25424	0.482000	0.46254	GAT		0.353	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			16	51	0	0	0	0.006122	0	16	51				
SYNPO2	171024	broad.mit.edu	37	4	119979067	119979067	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:119979067G>T	ENST00000307142.4	+	5	3960	c.3764G>T	c.(3763-3765)aGg>aTg	p.R1255M	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.R1255M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACACCCAAGGGGATGGAGA	0.403																																							uc010inb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3763-3765)AGG>ATG		synaptopodin 2 isoform a							58.0	56.0	57.0					4																	119979067		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119979067G>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3764G>T	4.37:g.119979067G>T	ENSP00000306015:p.Arg1255Met					SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.R1125M	p.R1255M	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN			5	3960	+			Error:Variant_position_missing_in_Q9UMS6_after_alignment					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3764G>T	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.93|14.93	2.683067|2.683067	0.47991|0.47991	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142	.|T	.|0.10477	.|2.87	5.76|5.76	4.02|4.02	0.46733|0.46733	.|.	.|0.000000	.|0.45867	.|D	.|0.000321	T|T	0.18002|0.18002	0.0432|0.0432	L|L	0.29908|0.29908	0.895|0.895	0.39861|0.39861	D|D	0.973373|0.973373	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.66847	.|0.887;0.947	T|T	0.03717|0.03717	-1.1010|-1.1010	5|9	.|.	.|.	.|.	-19.2756|-19.2756	11.2893|11.2893	0.49241|0.49241	0.2393:0.0:0.7607:0.0|0.2393:0.0:0.7607:0.0	.|.	.|1255;1255	.|B9EG60;Q9UMS6-2	.|.;.	N|M	1148|1255	.|ENSP00000306015:R1255M	.|.	K|R	+|+	3|2	2|0	SYNPO2|SYNPO2	120198515|120198515	0.995000|0.995000	0.38212|0.38212	0.825000|0.825000	0.32803|0.32803	0.440000|0.440000	0.31957|0.31957	2.469000|2.469000	0.45110|0.45110	1.459000|1.459000	0.47892|0.47892	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.403	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			14	28	1	0	3.35478e-16	0.003163	5.16952e-16	14	28				
MSMO1	6307	broad.mit.edu	37	4	166254679	166254679	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:166254679G>C	ENST00000261507.6	+	2	330	c.157G>C	c.(157-159)Gga>Cga	p.G53R	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.G53R	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	53					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)	p.G53R(1)									TGCAACATGGGGATCCCTTAT	0.299																																							uc003ire.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GGA>CGA		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						98.0	102.0	101.0					4																	166254679		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254679G>C	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.157G>C	4.37:g.166254679G>C	ENSP00000261507:p.Gly53Arg					SC4MOL_uc010irb.2_Missense_Mutation_p.G53R|SC4MOL_uc003irf.2_Intron	p.G53R	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	2	287	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	53					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.157G>C	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665587	0.88251	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.93462	3.42	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.65773	0.938;0.927	T	0.78492	-0.2183	10	0.33141	T	0.24	-22.052	19.5644	0.95388	0.0:0.0:1.0:0.0	.	53;53	D6R952;Q15800	.;MSMO1_HUMAN	R	53	ENSP00000261507:G53R;ENSP00000425241:G53R;ENSP00000423633:G53R;ENSP00000425112:G53R	ENSP00000261507:G53R	G	+	1	0	SC4MOL	166474129	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.633000	0.89246	0.561000	0.74099	GGA		0.299	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		14	39	0	0	0	0.00245	0	14	39				
KLKB1	3818	broad.mit.edu	37	4	187179225	187179225	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:187179225G>T	ENST00000264690.6	+	15	1963	c.1776G>T	c.(1774-1776)ttG>ttT	p.L592F	KLKB1_ENST00000513864.1_Missense_Mutation_p.G546C	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	592	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.L592F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGTGGCGTTTGGTGGGCATCA	0.478																																							uc003iyy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1774-1776)TTG>TTT		plasma kallikrein B1 precursor							102.0	97.0	99.0					4																	187179225		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179225G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1776G>T	4.37:g.187179225G>T	ENSP00000264690:p.Leu592Phe					KLKB1_uc011clc.1_Missense_Mutation_p.L390F|KLKB1_uc011cld.1_Missense_Mutation_p.G508C	p.L592F	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	15	1847	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	592			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1776G>T	CCDS34120.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.18|18.18|18.18	3.567068|3.567068|3.567068	0.65651|0.65651|0.65651	.|.|.	.|.|.	ENSG00000164344|ENSG00000164344|ENSG00000164344	ENST00000513864;ENST00000418715|ENST00000264690|ENST00000511608	D|D|.	0.88277|0.91521|.	-2.36|-2.86|.	6.04|6.04|6.04	1.92|1.92|1.92	0.25849|0.25849|0.25849	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|0.116839|.	.|0.38164|.	.|N|.	.|0.001794|.	T|T|T	0.61337|0.61337|0.61337	0.2339|0.2339|0.2339	M|M|M	0.88450|0.88450|0.88450	2.955|2.955|2.955	0.25902|0.25902|0.25902	N|N|N	0.983344|0.983344|0.983344	B|D;D|.	0.28783|0.89917|.	0.222|0.999;1.0|.	B|D;D|.	0.20384|0.91635|.	0.029|0.99;0.999|.	T|T|T	0.54853|0.54853|0.54853	-0.8231|-0.8231|-0.8231	9|10|5	0.72032|0.87932|.	D|D|.	0.01|0|.	.|.|.	6.7088|6.7088|6.7088	0.23266|0.23266|0.23266	0.2711:0.0:0.608:0.1208|0.2711:0.0:0.608:0.1208|0.2711:0.0:0.608:0.1208	.|.|.	508|592;592|.	E7EQA8|A8K9A9;P03952|.	.|.;KLKB1_HUMAN|.	C|F|L	546;508|592|640	ENSP00000424469:G546C|ENSP00000264690:L592F|.	ENSP00000397470:G508C|ENSP00000264690:L592F|.	G|L|W	+|+|+	1|3|2	0|2|0	KLKB1|KLKB1|KLKB1	187416219|187416219|187416219	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.941000|0.941000|0.941000	0.38009|0.38009|0.38009	0.859000|0.859000|0.859000	0.49053|0.49053|0.49053	1.957000|1.957000|1.957000	0.40392|0.40392|0.40392	0.451000|0.451000|0.451000	0.26802|0.26802|0.26802	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|TTG|TGG		0.478	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		26	25	1	0	3.65163e-15	0.00632	5.50403e-15	26	25				
FAT1	2195	broad.mit.edu	37	4	187509957	187509957	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr4:187509957T>G	ENST00000441802.2	-	27	13765	c.13556A>C	c.(13555-13557)tAc>tCc	p.Y4519S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4519					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y4522S(1)|p.Y4519S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTGGCGGGTAAGGGGCATG	0.527										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(13555-13557)TAC>TCC		FAT tumor suppressor 1 precursor							67.0	75.0	72.0					4																	187509957		1995	4186	6181	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187509957T>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13556A>C	4.37:g.187509957T>G	ENSP00000406229:p.Tyr4519Ser	HNSCC(5;0.00058)				FAT1_uc010isn.2_Missense_Mutation_p.Y166S|FAT1_uc003ize.2_Missense_Mutation_p.Y410S	p.Y4519S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			27	13744	-			4519			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.13556A>C	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.06|13.06	2.122925|2.122925	0.37436|0.37436	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000512772|ENST00000441802;ENST00000260147	.|T	.|0.28255	.|1.62	5.37|5.37	2.91|2.91	0.33838|0.33838	.|.	.|0.180025	.|0.50627	.|D	.|0.000107	T|T	0.37237|0.37237	0.0996|0.0996	L|L	0.44542|0.44542	1.39|1.39	0.42278|0.42278	D|D	0.992089|0.992089	.|D	.|0.67145	.|0.996	.|P	.|0.58970	.|0.849	T|T	0.05517|0.05517	-1.0880|-1.0880	5|10	.|0.37606	.|T	.|0.19	.|.	8.3705|8.3705	0.32412|0.32412	0.0:0.0684:0.1326:0.7989|0.0:0.0684:0.1326:0.7989	.|.	.|4519	.|Q14517	.|FAT1_HUMAN	F|S	298|4519;4521	.|ENSP00000406229:Y4519S	.|ENSP00000260147:Y4521S	L|Y	-|-	3|2	2|0	FAT1|FAT1	187746951|187746951	1.000000|1.000000	0.71417|0.71417	0.194000|0.194000	0.23346|0.23346	0.362000|0.362000	0.29581|0.29581	1.753000|1.753000	0.38359|0.38359	0.474000|0.474000	0.27392|0.27392	0.374000|0.374000	0.22700|0.22700	TTA|TAC		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	30	0	0	0	0.004482	0	9	30				
CCDC127	133957	broad.mit.edu	37	5	205950	205950	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:205950C>A	ENST00000296824.3	-	3	377	c.245G>T	c.(244-246)cGg>cTg	p.R82L		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	82								p.R82L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			GACAGCACGCCGATTTTCTGA	0.478																																							uc003jam.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(244-246)CGG>CTG		coiled-coil domain containing 127							94.0	93.0	93.0					5																	205950		2203	4300	6503	SO:0001583	missense	133957							g.chr5:205950C>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.245G>T	5.37:g.205950C>A	ENSP00000296824:p.Arg82Leu						p.R82L	NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	345	-			82			Potential.			Missense_Mutation	SNP	ENST00000296824.3	37	c.245G>T	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680420	0.88542	.	.	ENSG00000164366	ENST00000296824	T	0.39406	1.08	5.66	4.79	0.61399	.	0.100864	0.64402	D	0.000001	T	0.48333	0.1494	M	0.76002	2.32	0.47621	D	0.99947	P	0.51537	0.946	P	0.46685	0.524	T	0.50048	-0.8873	10	0.36615	T	0.2	-21.7474	12.2688	0.54693	0.0:0.9174:0.0:0.0826	.	82	Q96BQ5	CC127_HUMAN	L	82	ENSP00000296824:R82L	ENSP00000296824:R82L	R	-	2	0	CCDC127	258950	1.000000	0.71417	0.338000	0.25549	0.993000	0.82548	5.373000	0.66162	1.380000	0.46344	0.561000	0.74099	CGG		0.478	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		31	26	1	0	5.91797e-21	0.012213	1.00138e-20	31	26				
SLC6A19	340024	broad.mit.edu	37	5	1208962	1208962	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:1208962G>T	ENST00000304460.10	+	2	360	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	102					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.G102C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGCCTGGGTGTGTGGAG	0.682																																							uc003jbw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGT>TGT		solute carrier family 6, member 19							39.0	40.0	40.0					5																	1208962		2202	4299	6501	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208962G>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.304G>T	5.37:g.1208962G>T	ENSP00000305302:p.Gly102Cys						p.G102C	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	360	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		102			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.304G>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916929	0.73098	.	.	ENSG00000174358	ENST00000304460	T	0.75821	-0.97	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93279	0.6658	10	0.87932	D	0	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	102	Q695T7	S6A19_HUMAN	C	102	ENSP00000305302:G102C	ENSP00000305302:G102C	G	+	1	0	SLC6A19	1261962	1.000000	0.71417	0.994000	0.49952	0.442000	0.32017	9.537000	0.98070	2.091000	0.63221	0.485000	0.47835	GGT		0.682	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		9	24	1	0	0.00621372	0.006214	0.00649616	9	24				
ANKH	56172	broad.mit.edu	37	5	14712990	14712990	+	Missense_Mutation	SNP	C	C	T	rs374804595		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:14712990C>T	ENST00000284268.6	-	11	1688	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	ANKH_ENST00000535119.1_Missense_Mutation_p.R255Q	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	453					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.R453Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACCTGCTTCCGGTAGACATA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16699	0.0		0.0	False		,,,				2504	0.001						uc003jfm.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1357-1359)CGG>CAG		progressive ankylosis protein		C	GLN/ARG	3,4403		0,3,2200	24.0	27.0	26.0		1358	5.1	1.0	5		26	0,8600		0,0,4300	no	missense	ANKH	NM_054027.4	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	453/493	14712990	3,13003	2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14712990C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1358G>A	5.37:g.14712990C>T	ENSP00000284268:p.Arg453Gln					ANKH_uc003jfl.3_Missense_Mutation_p.R166Q	p.R453Q	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			11	1689	-			453			Cytoplasmic (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1358G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696832	0.88830	6.81E-4	0.0	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.96913	-3.55;-4.17	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96599	0.8890	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.97279	0.9916	10	0.62326	D	0.03	-25.8693	17.9149	0.88947	0.0:1.0:0.0:0.0	.	453	Q9HCJ1	ANKH_HUMAN	Q	255;453	ENSP00000442524:R255Q;ENSP00000284268:R453Q	ENSP00000284268:R453Q	R	-	2	0	ANKH	14765990	1.000000	0.71417	0.998000	0.56505	0.285000	0.27093	6.044000	0.71012	2.543000	0.85770	0.563000	0.77884	CGG		0.657	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		3	6	0	0	0	0.009096	0	3	6				
MARCH11	441061	broad.mit.edu	37	5	16177991	16177991	+	Splice_Site	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:16177991C>T	ENST00000332432.8	-	2	737		c.e2-1		RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_Splice_Site	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11						protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACAACTCACCCTAAAAAGAAA	0.428																																							uc003jfo.2		NA																	1	Unknown(1)		lung(1)		0						c.e2-1		membrane-associated ring finger (C3HC4) 11							70.0	66.0	67.0					5																	16177991		1869	4102	5971	SO:0001630	splice_region_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177991C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.538-1G>A	5.37:g.16177991C>T						uc003jfp.2_5'Flank	p.G180_splice	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			2	751	-								A7E2S6	Splice_Site	SNP	ENST00000332432.8	37	c.538_splice	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759376	0.69763	.	.	ENSG00000183654	ENST00000332432	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MARCH11	16230991	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.731000	0.84895	2.702000	0.92279	0.655000	0.94253	.		0.428	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562	Intron	5	15	0	0	0	0.000602	0	5	15				
PRDM9	56979	broad.mit.edu	37	5	23509160	23509160	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:23509160C>T	ENST00000296682.3	+	2	200	c.18C>T	c.(16-18)tcC>tcT	p.S6S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	6					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.S6S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGAAAAGTCCCAAGAGGAGA	0.562										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(16-18)TCC>TCT		PR domain containing 9							76.0	80.0	79.0					5																	23509160		1899	4135	6034	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509160C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.18C>T	5.37:g.23509160C>T		HNSCC(3;0.000094)					p.S6S	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			2	200	+			6					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.18C>T	CCDS43307.1																																																																																				0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		8	18	0	0	0	0.004482	0	8	18				
ADAMTS12	81792	broad.mit.edu	37	5	33535096	33535096	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:33535096C>A	ENST00000504830.1	-	23	4783	c.4448G>T	c.(4447-4449)tGt>tTt	p.C1483F	ADAMTS12_ENST00000352040.3_Splice_Site_p.C1398F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1483	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1483F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAAGTGGAACACTGAAAGAG	0.488										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4447-4449)TGT>TTT		ADAM metallopeptidase with thrombospondin type 1							78.0	72.0	74.0					5																	33535096		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535096C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4447-1G>T	5.37:g.33535096C>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C1398F	p.C1483F	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4611	-			1483			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4448G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265958	0.59540	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.98585	-5.01;-5.01	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.99746	4.745	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.83275	0.996;0.94	D	0.97779	1.0231	10	0.87932	D	0	.	14.1242	0.65210	0.0:1.0:0.0:0.0	.	1398;1483	P58397-3;P58397	.;ATS12_HUMAN	F	1483;1398	ENSP00000422554:C1483F;ENSP00000344847:C1398F	ENSP00000344847:C1398F	C	-	2	0	ADAMTS12	33570853	1.000000	0.71417	0.993000	0.49108	0.745000	0.42441	4.089000	0.57685	2.470000	0.83445	0.563000	0.77884	TGT		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Missense_Mutation	8	29	1	0	2.17888e-05	0.006214	2.47364e-05	8	29				
ADAMTS12	81792	broad.mit.edu	37	5	33535098	33535098	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:33535098C>A	ENST00000504830.1	-	23	4782		c.e23-1		ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGTGGAACACTGAAAGAGAA	0.488										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.e23-1		ADAM metallopeptidase with thrombospondin type 1							75.0	70.0	72.0					5																	33535098		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33535098C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4447-1G>T	5.37:g.33535098C>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Splice_Site_p.C1398_splice	p.C1483_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4610	-								A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	c.4447_splice	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357213	0.61293	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1242	0.65210	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33570855	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.089000	0.57685	2.470000	0.83445	0.563000	0.77884	.		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	8	28	1	0	2.17888e-05	0.006214	2.47364e-05	8	28				
RAI14	26064	broad.mit.edu	37	5	34803879	34803879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:34803879C>T	ENST00000265109.3	+	5	606	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Nonsense_Mutation_p.Q110*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.Q107*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.Q107*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.Q107*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.Q99*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.Q100*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	107						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.Q107*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAGCTGCTTCAGGTAAGCTG	0.363																																							uc003jir.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(319-321)CAG>TAG		retinoic acid induced 14 isoform a							50.0	49.0	50.0					5																	34803879		2203	4300	6503	SO:0001587	stop_gained	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34803879C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.319C>T	5.37:g.34803879C>T	ENSP00000265109:p.Gln107*					RAI14_uc010iur.2_Nonsense_Mutation_p.Q107*|RAI14_uc011coj.1_Nonsense_Mutation_p.Q107*|RAI14_uc010ius.1_Nonsense_Mutation_p.Q36*|RAI14_uc003jis.2_Nonsense_Mutation_p.Q110*|RAI14_uc003jit.2_Nonsense_Mutation_p.Q107*|RAI14_uc011cok.1_Nonsense_Mutation_p.Q99*	p.Q107*	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			5	515	+	all_lung(31;0.000191)		107			ANK 3.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Nonsense_Mutation	SNP	ENST00000265109.3	37	c.319C>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535369	0.85812	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.2482	18.5214	0.90954	0.0:1.0:0.0:0.0	.	.	.	.	X	107;107;107;107;107;107;107;107;107;110;107;107;99;100	.	ENSP00000265109:Q107X	Q	+	1	0	RAI14	34839636	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.655000	0.67981	2.814000	0.96858	0.655000	0.94253	CAG		0.363	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		8	9	0	0	0	0.00308	0	8	9				
RICTOR	253260	broad.mit.edu	37	5	38963016	38963016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:38963016G>A	ENST00000357387.3	-	17	1558	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.Q510*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.Q510*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CGGAGATACTGATCCCGTTTC	0.363																																							uc003jlp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1528-1530)CAG>TAG		rapamycin-insensitive companion of mTOR							165.0	154.0	158.0					5																	38963016		2203	4300	6503	SO:0001587	stop_gained	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38963016G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1528C>T	5.37:g.38963016G>A	ENSP00000349959:p.Gln510*					RICTOR_uc003jlo.2_Nonsense_Mutation_p.Q510*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.Q225*	p.Q510*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			17	1552	-	all_lung(31;0.000396)		510						Nonsense_Mutation	SNP	ENST00000357387.3	37	c.1528C>T	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445894	0.96187	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	5.57	5.57	0.84162	.	0.112655	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.7235	19.9024	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	X	510	.	ENSP00000296782:Q510X	Q	-	1	0	RICTOR	38998773	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.992000	0.70609	2.775000	0.95449	0.650000	0.86243	CAG		0.363	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		33	74	0	0	0	0.00623	0	33	74				
CARD6	84674	broad.mit.edu	37	5	40853331	40853331	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:40853331A>G	ENST00000254691.5	+	3	2096	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.M633V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAGGAAGTGATGTTCTCTTC	0.527																																							uc003jmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1897-1899)ATG>GTG		caspase recruitment domain family, member 6							138.0	139.0	139.0					5																	40853331		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853331A>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1897A>G	5.37:g.40853331A>G	ENSP00000254691:p.Met633Val						p.M633V	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1972	+			633					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1897A>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307003	0.23821	.	.	ENSG00000132357	ENST00000254691	T	0.11821	2.74	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	T	0.27098	0.0664	L	0.48642	1.525	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.00785	-1.1567	10	0.37606	T	0.19	-19.5605	11.0274	0.47753	1.0:0.0:0.0:0.0	.	633	Q9BX69	CARD6_HUMAN	V	633	ENSP00000254691:M633V	ENSP00000254691:M633V	M	+	1	0	CARD6	40889088	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	2.913000	0.48790	2.107000	0.64212	0.459000	0.35465	ATG		0.527	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			66	75	0	0	0	0.00361	0	66	75				
HTR1A	3350	broad.mit.edu	37	5	63256879	63256879	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:63256879C>T	ENST00000323865.3	-	1	901	c.668G>A	c.(667-669)cGc>cAc	p.R223H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	223					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R223H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GATGCGGAAGCGCGCAGCTCG	0.567																																							uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(667-669)CGC>CAC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						77.0	86.0	83.0					5																	63256879		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256879C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.668G>A	5.37:g.63256879C>T	ENSP00000316244:p.Arg223His						p.R223H	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	668	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	223			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.668G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931723	0.92389	.	.	ENSG00000178394	ENST00000323865	T	0.42513	0.97	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.76515	-0.2931	10	0.72032	D	0.01	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	223	P08908	5HT1A_HUMAN	H	223	ENSP00000316244:R223H	ENSP00000316244:R223H	R	-	2	0	HTR1A	63292635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	CGC		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		41	68	0	0	0	0.00874	0	41	68				
CENPH	64946	broad.mit.edu	37	5	68491617	68491617	+	Splice_Site	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:68491617A>T	ENST00000283006.2	+	4	400	c.313A>T	c.(313-315)Agg>Tgg	p.R105W	CENPH_ENST00000515001.1_Splice_Site_p.S105C	NM_022909.3	NP_075060.1			centromere protein H									p.R105W(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TGCATTAGACAGGTAATTATT	0.328																																							uc003jvp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(313-315)AGG>TGG		centromere protein H							29.0	30.0	30.0					5																	68491617		2197	4289	6486	SO:0001630	splice_region_variant	64946				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	g.chr5:68491617A>T	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.314+1A>T	5.37:g.68491617A>T						CENPH_uc010ixc.2_Missense_Mutation_p.S105C	p.R105W	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)	4	400	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	105			Potential.			Missense_Mutation	SNP	ENST00000283006.2	37	c.313A>T	CCDS3998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.07|12.07	1.826272|1.826272	0.32329|0.32329	.|.	.|.	ENSG00000153044|ENSG00000153044	ENST00000283006|ENST00000515001	.|.	.|.	.|.	4.72|4.72	3.53|3.53	0.40419|0.40419	.|.	0.084063|.	0.51477|.	D|.	0.000083|.	T|T	0.32071|0.32071	0.0817|0.0817	L|L	0.32530|0.32530	0.975|0.975	0.23889|0.23889	N|N	0.996551|0.996551	D|B	0.76494|0.13145	0.999|0.007	D|B	0.72625|0.10450	0.978|0.005	T|T	0.26573|0.26573	-1.0099|-1.0099	9|8	0.87932|0.72032	D|D	0|0.01	-17.5604|-17.5604	8.5509|8.5509	0.33451|0.33451	0.8049:0.1951:0.0:0.0|0.8049:0.1951:0.0:0.0	.|.	105|105	Q9H3R5|B3KVZ3	CENPH_HUMAN|.	W|C	105|105	.|.	ENSP00000283006:R105W|ENSP00000426014:S105C	R|S	+|+	1|1	2|0	CENPH|CENPH	68527373|68527373	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.652000|0.652000	0.38707|0.38707	2.502000|2.502000	0.45398|0.45398	1.092000|1.092000	0.41356|0.41356	0.533000|0.533000	0.62120|0.62120	AGG|AGT		0.328	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1		Missense_Mutation	14	26	0	0	0	0.00245	0	14	26				
CMYA5	202333	broad.mit.edu	37	5	79032837	79032837	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:79032837C>T	ENST00000446378.2	+	2	8280	c.8249C>T	c.(8248-8250)tCa>tTa	p.S2750L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2750					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S2750L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGAAAAGTCAAGCAGAGAT	0.383																																							uc003kgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(8248-8250)TCA>TTA		cardiomyopathy associated 5							67.0	66.0	66.0					5																	79032837		1853	4094	5947	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032837C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8249C>T	5.37:g.79032837C>T	ENSP00000394770:p.Ser2750Leu						p.S2750L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8321	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2750					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8249C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293183	0.40594	.	.	ENSG00000164309	ENST00000446378	T	0.17528	2.27	3.97	3.09	0.35607	.	0.504604	0.16773	N	0.200109	T	0.15696	0.0378	L	0.46157	1.445	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.18147	-1.0346	10	0.87932	D	0	.	8.8349	0.35107	0.0:0.8888:0.0:0.1112	.	2750	Q8N3K9	CMYA5_HUMAN	L	2750	ENSP00000394770:S2750L	ENSP00000394770:S2750L	S	+	2	0	CMYA5	79068593	0.011000	0.17503	0.601000	0.28877	0.446000	0.32137	1.331000	0.33793	0.816000	0.34421	0.478000	0.44815	TCA		0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	34	0	0	0	0.009096	0	4	34				
HAPLN1	1404	broad.mit.edu	37	5	82937482	82937482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:82937482C>A	ENST00000274341.4	-	5	1748	c.898G>T	c.(898-900)Gga>Tga	p.G300*		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	300	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G300*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGGTCATATCCGAGAATTTTC	0.557																																							uc003kim.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(898-900)GGA>TGA		hyaluronan and proteoglycan link protein 1							133.0	136.0	135.0					5																	82937482		2203	4300	6503	SO:0001587	stop_gained	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937482C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.898G>T	5.37:g.82937482C>A	ENSP00000274341:p.Gly300*					HAPLN1_uc003kin.2_Nonsense_Mutation_p.G300*	p.G300*	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	969	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	300			Link 2.		B2R9A9	Nonsense_Mutation	SNP	ENST00000274341.4	37	c.898G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	40	8.360729	0.98777	.	.	ENSG00000145681	ENST00000274341	.	.	.	5.22	5.22	0.72569	.	0.048070	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000274341:G300X	G	-	1	0	HAPLN1	82973238	1.000000	0.71417	0.338000	0.25549	0.069000	0.16628	6.029000	0.70895	2.581000	0.87130	0.655000	0.94253	GGA		0.557	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		69	106	1	0	2.17656e-39	0.00361	4.09588e-39	69	106				
FER	2241	broad.mit.edu	37	5	108203468	108203468	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:108203468G>T	ENST00000281092.4	+	6	866	c.482G>T	c.(481-483)gGg>gTg	p.G161V	FER_ENST00000438717.2_5'UTR|FER_ENST00000536402.1_Splice_Site_p.G161V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	161	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G161V(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTTTTTTCAGGGAAGGAAACT	0.338																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(481-483)GGG>GTG		fer (fps/fes related) tyrosine kinase							85.0	71.0	75.0					5																	108203468		2202	4300	6502	SO:0001630	splice_region_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203468G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.482-1G>T	5.37:g.108203468G>T						FER_uc011cve.1_Missense_Mutation_p.G101V|FER_uc011cvf.1_RNA|FER_uc011cvg.1_5'UTR	p.G161V	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	6	866	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	161			Potential.|Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.482G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	38	7.122384	0.98077	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.48522	0.81;0.81	5.63	5.63	0.86233	.	0.140304	0.64402	D	0.000004	T	0.53578	0.1805	M	0.65975	2.015	0.80722	D	1	D	0.53619	0.961	P	0.44597	0.454	T	0.54417	-0.8297	9	.	.	.	.	20.1226	0.97969	0.0:0.0:1.0:0.0	.	161	P16591	FER_HUMAN	V	161	ENSP00000281092:G161V;ENSP00000442627:G161V	.	G	+	2	0	FER	108231367	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.038000	0.93771	2.832000	0.97577	0.650000	0.86243	GGG		0.338	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	Missense_Mutation	11	16	1	0	0.000978159	0.010729	0.00105825	11	16				
LVRN	206338	broad.mit.edu	37	5	115361800	115361800	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:115361800A>G	ENST00000357872.4	+	20	3082	c.2958A>G	c.(2956-2958)ctA>ctG	p.L986L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		986						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L986L(1)									CTGCGTGGCTAAGGAGAAACA	0.403																																							uc003kro.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2956-2958)CTA>CTG		laeverin							88.0	80.0	83.0					5																	115361800		2202	4300	6502	SO:0001819	synonymous_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115361800A>G																												ENST00000357872.4:c.2958A>G	5.37:g.115361800A>G						AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.L986L	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			20	3122	+			986			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.2958A>G	CCDS4124.1																																																																																				0.403	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			21	21	0	0	0	0.002299	0	21	21				
PCDHA2	56146	broad.mit.edu	37	5	140175792	140175792	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140175792C>A	ENST00000526136.1	+	1	1243	c.1243C>A	c.(1243-1245)Cgc>Agc	p.R415S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R415S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R415S|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	415	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.R415S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAGCGT	0.627																																							uc003lhd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1243-1245)CGC>AGC		protocadherin alpha 2 isoform 1 precursor							142.0	129.0	133.0					5																	140175792		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175792C>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1243C>A	5.37:g.140175792C>A	ENSP00000431748:p.Arg415Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R415S|PCDHA2_uc011czy.1_Missense_Mutation_p.R415S	p.R415S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1349	+			415			Cadherin 4.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1243C>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.045070	0.55110	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.59638	0.25;0.25;0.25	3.98	1.96	0.26148	Cadherin (4);Cadherin-like (1);	0.000000	0.39407	U	0.001374	D	0.84871	0.5568	H	0.99368	4.535	0.26903	N	0.967069	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.995	T	0.79541	-0.1761	10	0.87932	D	0	.	12.4906	0.55897	0.2998:0.7002:0.0:0.0	.	415;415;415	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	S	415	ENSP00000430584:R415S;ENSP00000367372:R415S;ENSP00000431748:R415S	ENSP00000367372:R415S	R	+	1	0	PCDHA2	140155976	0.973000	0.33851	0.997000	0.53966	0.653000	0.38743	1.501000	0.35693	0.750000	0.32877	0.650000	0.86243	CGC		0.627	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		71	89	1	0	3.58576e-35	0.00361	6.62726e-35	71	89				
PCDHA13	56136	broad.mit.edu	37	5	140263227	140263227	+	Silent	SNP	C	C	A	rs200197885		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140263227C>A	ENST00000289272.2	+	1	1374	c.1374C>A	c.(1372-1374)ccC>ccA	p.P458P	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P458P|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P458P(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACGG	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - coding silent(1)	p.P458S(1)	lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1372-1374)CCC>CCA		protocadherin alpha 13 isoform 1 precursor							66.0	70.0	69.0					5																	140263227		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263227C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1374C>A	5.37:g.140263227C>A						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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P458P|PCDHA13_uc003lid.2_Silent_p.P458P	p.P458P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1374	+			458			Cadherin 5.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1374C>A	CCDS4240.1																																																																																				0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		38	44	1	0	9.84934e-19	0.010771	1.60536e-18	38	44				
PCDHB2	56133	broad.mit.edu	37	5	140475761	140475761	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140475761C>A	ENST00000194155.4	+	1	1535	c.1387C>A	c.(1387-1389)Cgc>Agc	p.R463S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	463	Cadherin 5. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R463S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.632																																							uc003lil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1387-1389)CGC>AGC		protocadherin beta 2 precursor							83.0	83.0	83.0					5																	140475761		2203	4296	6499	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475761C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1387C>A	5.37:g.140475761C>A	ENSP00000194155:p.Arg463Ser					PCDHB2_uc003lim.1_Missense_Mutation_p.R124S	p.R463S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1525	+			463			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1387C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855016	0.17106	.	.	ENSG00000112852	ENST00000194155	T	0.01584	4.75	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01661	0.0053	N	0.20610	0.595	0.09310	N	1	P	0.37083	0.581	B	0.32211	0.142	T	0.52480	-0.8570	9	0.54805	T	0.06	.	12.041	0.53452	0.0:0.9196:0.0:0.0804	.	463	Q9Y5E7	PCDB2_HUMAN	S	463	ENSP00000194155:R463S	ENSP00000194155:R463S	R	+	1	0	PCDHB2	140455945	0.000000	0.05858	0.809000	0.32408	0.309000	0.27889	-0.045000	0.12003	2.542000	0.85734	0.650000	0.86243	CGC		0.632	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		43	79	1	0	9.40535e-28	0.00361	1.67356e-27	43	79				
PCDHB7	56129	broad.mit.edu	37	5	140554470	140554470	+	Missense_Mutation	SNP	C	C	A	rs17844475		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140554470C>A	ENST00000231137.3	+	1	2228	c.2054C>A	c.(2053-2055)aCc>aAc	p.T685N	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T685N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGCTCACCGTCTACCTG	0.711																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2053-2055)ACC>AAC		protocadherin beta 7 precursor							61.0	96.0	85.0					5																	140554470		2200	4295	6495	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554470C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2054C>A	5.37:g.140554470C>A	ENSP00000231137:p.Thr685Asn					PCDHB8_uc011dai.1_5'Flank	p.T685N	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2228	+			685			Extracellular (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2054C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670501	0.88348	.	.	ENSG00000113212	ENST00000231137	T	0.53206	0.63	3.77	3.77	0.43336	.	.	.	.	.	T	0.69251	0.3090	M	0.85945	2.785	0.32887	D	0.511386	D	0.89917	1.0	D	0.80764	0.994	T	0.78373	-0.2229	9	0.87932	D	0	.	10.999	0.47593	0.1868:0.8132:0.0:0.0	.	685	Q9Y5E2	PCDB7_HUMAN	N	685	ENSP00000231137:T685N	ENSP00000231137:T685N	T	+	2	0	PCDHB7	140534654	0.941000	0.31946	0.517000	0.27799	0.938000	0.57974	2.439000	0.44846	1.808000	0.52836	0.449000	0.29647	ACC		0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		46	120	1	0	8.00217e-19	0.00361	1.30772e-18	46	120				
PCDHB10	56126	broad.mit.edu	37	5	140572519	140572519	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140572519G>C	ENST00000239446.4	+	1	578	c.394G>C	c.(394-396)Gta>Cta	p.V132L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	132	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V132L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACGCGCCAGTATTTCAGGA	0.403																																							uc003lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(394-396)GTA>CTA		protocadherin beta 10 precursor							84.0	88.0	86.0					5																	140572519		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572519G>C	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.394G>C	5.37:g.140572519G>C	ENSP00000239446:p.Val132Leu						p.V132L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	568	+			132			Extracellular (Potential).|Cadherin 1.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.394G>C	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537819	0.04082	.	.	ENSG00000120324	ENST00000239446	T	0.02916	4.11	3.46	1.58	0.23477	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03520	0.0101	L	0.55103	1.725	0.09310	N	1	B	0.20780	0.048	B	0.21708	0.036	T	0.39981	-0.9587	9	0.30854	T	0.27	.	5.9344	0.19156	0.3947:0.0:0.6053:0.0	.	132	Q9UN67	PCDBA_HUMAN	L	132	ENSP00000239446:V132L	ENSP00000239446:V132L	V	+	1	0	PCDHB10	140552703	0.000000	0.05858	0.809000	0.32408	0.262000	0.26303	-3.971000	0.00322	0.800000	0.34041	0.549000	0.68633	GTA		0.403	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		39	63	0	0	0	0.005524	0	39	63				
PCDHB15	56121	broad.mit.edu	37	5	140627409	140627409	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140627409C>A	ENST00000231173.3	+	1	2263	c.2263C>A	c.(2263-2265)Ctg>Atg	p.L755M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	755					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.L755M(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGTGTGTCTGACGGGAGG	0.522																																							uc003lje.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(2263-2265)CTG>ATG		protocadherin beta 15 precursor							111.0	123.0	119.0					5																	140627409		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627409C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2263C>A	5.37:g.140627409C>A	ENSP00000231173:p.Leu755Met						p.L755M	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2263	+			755			Cytoplasmic (Potential).		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2263C>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857139	0.71834	.	.	ENSG00000113248	ENST00000231173	T	0.15603	2.41	4.12	0.0392	0.14203	.	.	.	.	.	T	0.32194	0.0821	M	0.88570	2.965	0.09310	N	0.999997	D	0.60160	0.987	P	0.52343	0.696	T	0.15954	-1.0419	9	0.87932	D	0	.	4.9361	0.13941	0.0:0.4565:0.2875:0.2559	.	755	Q9Y5E8	PCDBF_HUMAN	M	755	ENSP00000231173:L755M	ENSP00000231173:L755M	L	+	1	2	PCDHB15	140607593	0.000000	0.05858	0.652000	0.29579	0.720000	0.41350	-0.785000	0.04628	0.014000	0.14944	0.556000	0.70494	CTG		0.522	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		83	119	1	0	1.68136e-41	0.00361	3.18331e-41	83	119				
PCDHGB3	56102	broad.mit.edu	37	5	140750841	140750841	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140750841C>A	ENST00000576222.1	+	1	1011	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	294	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTTCAAGCTGGACAGTAA	0.448																																							uc003ljw.1		NA																	0					0						c.(880-882)CTG>ATG		protocadherin gamma subfamily B, 3 isoform 1							143.0	145.0	145.0					5																	140750841		2000	4180	6180	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750841C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.880C>A	5.37:g.140750841C>A	ENSP00000461862:p.Leu294Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.L294M|PCDHGA6_uc011dau.1_5'Flank	p.L294M	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	880	+			294			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.880C>A	CCDS58980.1																																																																																				0.448	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		52	73	1	0	9.59835e-30	0.00361	1.73778e-29	52	73				
PCDHGB3	56102	broad.mit.edu	37	5	140752016	140752016	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140752016G>A	ENST00000576222.1	+	1	2186	c.2055G>A	c.(2053-2055)caG>caA	p.Q685Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCCTCAGGCGGAGCTAC	0.567																																							uc003ljw.1		NA																	0					0						c.(2053-2055)CAG>CAA		protocadherin gamma subfamily B, 3 isoform 1							75.0	84.0	81.0					5																	140752016		2067	4200	6267	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752016G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2055G>A	5.37:g.140752016G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.Q685Q|PCDHGA6_uc011dau.1_5'Flank	p.Q685Q	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2055	+			685			Extracellular (Potential).		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.2055G>A	CCDS58980.1																																																																																				0.567	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		29	37	0	0	0	0.008361	0	29	37				
PCDHGA7	56108	broad.mit.edu	37	5	140763012	140763012	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140763012G>A	ENST00000518325.1	+	1	546	c.546G>A	c.(544-546)gtG>gtA	p.V182V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	182	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V182V(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGCTGTGCAAAGTGGAG	0.602																																							uc003lka.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)GTG>GTA		protocadherin gamma subfamily A, 7 isoform 1							25.0	30.0	29.0					5																	140763012		2121	4246	6367	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763012G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.546G>A	5.37:g.140763012G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.V182V	p.V182V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	546	+			182			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.546G>A	CCDS54927.1																																																																																				0.602	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	19	0	0	0	0.001984	0	7	19				
PCDHGB3	56102	broad.mit.edu	37	5	140779392	140779392	+	Intron	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:140779392C>G	ENST00000576222.1	+	1	2546				PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGTCCCGACGGCTCTGCGC	0.682																																							uc003lkf.1		NA																	0					0						c.(1696-1698)GAC>GAG		protocadherin gamma subfamily B, 5 isoform 1							28.0	36.0	33.0					5																	140779392		2124	4243	6367	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779392C>G	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27016C>G	5.37:g.140779392C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D566E	p.D566E	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1698	+			566			Cadherin 6.|Extracellular (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1698C>G	CCDS58980.1																																																																																				0.682	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	19	0	0	0	0.00245	0	14	19				
PCDH1	5097	broad.mit.edu	37	5	141248253	141248253	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:141248253T>A	ENST00000394536.3	-	2	923	c.784A>T	c.(784-786)Agc>Tgc	p.S262C	PCDH1_ENST00000456271.1_Missense_Mutation_p.S250C|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Missense_Mutation_p.S262C|PCDH1_ENST00000503492.1_Missense_Mutation_p.S262C|PCDH1_ENST00000536585.1_Missense_Mutation_p.S240C	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.			S -> T (in Ref. 4; AAA36419). {ECO:0000305}.	cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S262C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGGGCACTGCTGGCGCGTGGG	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(784-786)AGC>TGC		protocadherin 1 isoform 1 precursor							57.0	52.0	54.0					5																	141248253		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248253T>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.784A>T	5.37:g.141248253T>A	ENSP00000378043:p.Ser262Cys					PCDH1_uc003llp.2_Missense_Mutation_p.S262C|PCDH1_uc011dbf.1_Missense_Mutation_p.S240C	p.S262C	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	901	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	262	S -> T (in Ref. 4; AAA36419).		Extracellular (Potential).|Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.784A>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	t	21.1	4.092037	0.76756	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	4.49	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	T	0.74215	0.3687	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79220	-0.1893	10	0.87932	D	0	.	12.0676	0.53596	0.0:0.0:0.0:1.0	.	262;262	Q08174;Q08174-2	PCDH1_HUMAN;.	C	262;262;262;250;273;240	ENSP00000424667:S262C;ENSP00000287008:S262C;ENSP00000378043:S262C;ENSP00000403497:S250C;ENSP00000350122:S273C;ENSP00000438825:S240C	ENSP00000287008:S262C	S	-	1	0	PCDH1	141228437	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.760000	0.38430	2.016000	0.59253	0.454000	0.30748	AGC		0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		8	15	0	0	0	0.004482	0	8	15				
RBM27	54439	broad.mit.edu	37	5	145643117	145643117	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:145643117C>T	ENST00000265271.5	+	14	2420	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F	RBM27_ENST00000506502.1_Missense_Mutation_p.L697F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	752					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L752F(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAACATCGTCTTGGACATGC	0.428																																							uc003lnz.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(2254-2256)CTT>TTT		RNA binding motif protein 27							218.0	183.0	194.0					5																	145643117		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145643117C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2254C>T	5.37:g.145643117C>T	ENSP00000265271:p.Leu752Phe					RBM27_uc003lny.2_Missense_Mutation_p.L697F	p.L752F	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2420	+			752					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2254C>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841150	0.91197	.	.	ENSG00000091009	ENST00000265271	T	0.52983	0.64	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000017	T	0.66499	0.2795	L	0.54323	1.7	0.45554	D	0.998509	D;D	0.71674	0.995;0.998	D;D	0.75484	0.969;0.986	T	0.66416	-0.5929	10	0.59425	D	0.04	-13.6189	19.6101	0.95602	0.0:1.0:0.0:0.0	.	752;697	Q9P2N5;B3KY61	RBM27_HUMAN;.	F	752	ENSP00000265271:L752F	ENSP00000265271:L752F	L	+	1	0	RBM27	145623310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.393000	0.59665	2.640000	0.89533	0.650000	0.86243	CTT		0.428	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		49	79	0	0	0	0.00361	0	49	79				
SLC36A3	285641	broad.mit.edu	37	5	150657056	150657056	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:150657056G>A	ENST00000335230.3	-	10	1722	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	SLC36A3_ENST00000377713.3_Silent_p.I478I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	437						integral component of membrane (GO:0016021)		p.I437I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGGCCCACGATGCTAATCA	0.522																																							uc003ltw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1309-1311)ATC>ATT		solute carrier family 36, member 3 isoform 2							136.0	124.0	128.0					5																	150657056		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150657056G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1311C>T	5.37:g.150657056G>A						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.I422I|SLC36A3_uc003ltx.2_Silent_p.I478I	p.I437I	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1730	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	437			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.1311C>T	CCDS4314.1																																																																																				0.522	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		35	49	0	0	0	0.003271	0	35	49				
LARP1	23367	broad.mit.edu	37	5	154182849	154182849	+	Splice_Site	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:154182849G>A	ENST00000336314.4	+	12	1902		c.e12-1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GACCTCTGCAGCAAGAAGTCG	0.517																																							uc003lvp.2		NA																	2	Unknown(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.e12-1		la related protein isoform 2							71.0	72.0	72.0					5																	154182849		2203	4300	6503	SO:0001630	splice_region_variant	23367						protein binding|RNA binding	g.chr5:154182849G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1879-1G>A	5.37:g.154182849G>A						LARP1_uc003lvo.2_Splice_Site_p.Q627_splice|LARP1_uc010jie.1_Splice_Site_p.Q499_splice	p.Q704_splice	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		12	2539	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)						O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	SNP	ENST00000336314.4	37	c.2110_splice	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181578	0.78677	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000518677	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP1	154163042	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.787000	0.99055	2.816000	0.96949	0.563000	0.77884	.		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	3	58	0	0	0	0.004672	0	3	58				
FAM71B	153745	broad.mit.edu	37	5	156590160	156590160	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:156590160C>A	ENST00000302938.4	-	2	1211	c.1116G>T	c.(1114-1116)ttG>ttT	p.L372F		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	372						nucleus (GO:0005634)		p.L372F(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGCCGCACTCAAGCTGCTGT	0.577																																							uc003lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1114-1116)TTG>TTT		family with sequence similarity 71, member B							37.0	39.0	38.0					5																	156590160		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590160C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1116G>T	5.37:g.156590160C>A	ENSP00000305596:p.Leu372Phe						p.L372F	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1216	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	372					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1116G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347017	0.24426	.	.	ENSG00000170613	ENST00000302938	T	0.18960	2.18	3.83	1.03	0.20045	.	3.372740	0.00982	N	0.003398	T	0.17534	0.0421	L	0.43152	1.355	0.09310	N	1	P	0.34462	0.454	B	0.28638	0.092	T	0.15292	-1.0442	10	0.38643	T	0.18	1.1991	4.215	0.10530	0.0:0.5621:0.2184:0.2195	.	372	Q8TC56	FA71B_HUMAN	F	372	ENSP00000305596:L372F	ENSP00000305596:L372F	L	-	3	2	FAM71B	156522738	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.276000	0.18716	0.187000	0.20147	0.561000	0.74099	TTG		0.577	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		11	17	1	0	1.08611e-07	0.010729	1.35165e-07	11	17				
ADAM19	8728	broad.mit.edu	37	5	156915298	156915298	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:156915298G>T	ENST00000517905.1	-	21	2569	c.2525C>A	c.(2524-2526)cCc>cAc	p.P842H	ADAM19_ENST00000394020.1_Missense_Mutation_p.P844H|ADAM19_ENST00000257527.4_Missense_Mutation_p.P842H|ADAM19_ENST00000430702.2_Missense_Mutation_p.P575H			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	842					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P843H(1)|p.P842H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTGGTGCGGGGGGAATTGG	0.562																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2524-2526)CCC>CAC		ADAM metallopeptidase domain 19 preproprotein							96.0	101.0	99.0					5																	156915298		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915298G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2525C>A	5.37:g.156915298G>T	ENSP00000428654:p.Pro842His					ADAM19_uc003lww.1_Missense_Mutation_p.P575H|ADAM19_uc003lwy.2_Missense_Mutation_p.P441H|ADAM19_uc011ddr.1_Missense_Mutation_p.P773H	p.P842H	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2589	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	842			Cytoplasmic (Potential).|SH3-binding (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.2525C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.792150|2.792150	0.50102|0.50102	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|T	0.01854|0.03496	4.6;4.72;4.75;4.7|3.91	5.69|5.69	4.83|4.83	0.62350|0.62350	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.07503|0.07503	0.0189|0.0189	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999977|0.999977	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.997;0.998|.	T|T	0.25847|0.25847	-1.0120|-1.0120	10|8	0.52906|0.54805	T|T	0.07|0.06	.|.	13.084|13.084	0.59129|0.59129	0.0745:0.0:0.9255:0.0|0.0745:0.0:0.9255:0.0	.|.	842;842;575|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	H|T	575;842;844;842|413	ENSP00000414088:P575H;ENSP00000257527:P842H;ENSP00000377588:P844H;ENSP00000428654:P842H|ENSP00000431027:P413T	ENSP00000257527:P842H|ENSP00000431027:P413T	P|P	-|-	2|1	0|0	ADAM19|ADAM19	156847876|156847876	1.000000|1.000000	0.71417|0.71417	0.655000|0.655000	0.29622|0.29622	0.230000|0.230000	0.25150|0.25150	5.816000|5.816000	0.69222|0.69222	1.413000|1.413000	0.46997|0.46997	0.491000|0.491000	0.48974|0.48974	CCC|CCG		0.562	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		42	108	1	0	1.89013e-27	0.00361	3.35362e-27	42	108				
UNC5A	90249	broad.mit.edu	37	5	176297470	176297470	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr5:176297470G>A	ENST00000329542.4	+	6	1095	c.821G>A	c.(820-822)gGa>gAa	p.G274E	UNC5A_ENST00000261961.3_Missense_Mutation_p.G234E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	274	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G274E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGCAACGGAGGGGAGGAG	0.642																																							uc003mey.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(820-822)GGA>GAA		netrin receptor Unc5h1 precursor							59.0	60.0	60.0					5																	176297470		2203	4299	6502	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176297470G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.821G>A	5.37:g.176297470G>A	ENSP00000332737:p.Gly274Glu					UNC5A_uc003mex.1_Missense_Mutation_p.G274E|UNC5A_uc010jkg.1_Missense_Mutation_p.G234E	p.G274E	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1013	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	274			TSP type-1.|Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.821G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927612	0.73327	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.62232	0.04;0.04	4.41	4.41	0.53225	.	0.136149	0.49305	D	0.000155	D	0.85673	0.5751	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.999	D	0.91063	0.4887	10	0.87932	D	0	-8.7768	16.9914	0.86354	0.0:0.0:1.0:0.0	.	234;274;274	Q6ZN44-3;Q6ZN44;Q6ZN44-2	.;UNC5A_HUMAN;.	E	274;234	ENSP00000332737:G274E;ENSP00000261961:G234E	ENSP00000261961:G234E	G	+	2	0	UNC5A	176230076	1.000000	0.71417	0.973000	0.42090	0.272000	0.26649	7.994000	0.88315	1.997000	0.58415	0.289000	0.19496	GGA		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		15	50	0	0	0	0.004007	0	15	50				
F13A1	2162	broad.mit.edu	37	6	6318847	6318847	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:6318847G>A	ENST00000264870.3	-	2	316	c.51C>T	c.(49-51)ccC>ccT	p.P17P		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	17					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)	p.P17P(2)		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)	TAGAGTTATTGGGTGGAACTG	0.502																																							uc003mwv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(49-51)CCC>CCT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						174.0	158.0	163.0					6																	6318847		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:6318847G>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.51C>T	6.37:g.6318847G>A						F13A1_uc011dib.1_Silent_p.P17P	p.P17P	NM_000129	NP_000120	P00488	F13A_HUMAN			2	174	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	17					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.51C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735356	0.15574	.	.	ENSG00000124491	ENST00000451619	D	0.85955	-2.05	4.64	2.83	0.33086	.	0.820771	0.11486	N	0.559193	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51593	-0.8686	7	0.09843	T	0.71	.	7.456	0.27266	0.0:0.1651:0.4943:0.3407	.	.	.	.	L	42	ENSP00000411114:P42L	ENSP00000411114:P42L	P	-	2	0	F13A1	6263846	0.983000	0.35010	0.871000	0.34182	0.663000	0.39108	0.459000	0.21908	0.547000	0.28938	0.643000	0.83706	CCA		0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		28	108	0	0	0	0.012213	0	28	108				
ELOVL2	54898	broad.mit.edu	37	6	10995395	10995395	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:10995395C>A	ENST00000354666.3	-	5	433	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	117					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)	p.W117L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATAGTACCACCAAAGCACCTT	0.438																																							uc003mzp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)TGG>TTG		elongation of very long chain fatty acids-like							81.0	78.0	79.0					6																	10995395		2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10995395C>A	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.350G>T	6.37:g.10995395C>A	ENSP00000346693:p.Trp117Leu						p.W117L	NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		5	511	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	117					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.350G>T	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949575	0.92660	.	.	ENSG00000197977	ENST00000354666	T	0.21031	2.03	5.65	5.65	0.86999	.	0.147964	0.48767	D	0.000164	T	0.57607	0.2065	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.72272	-0.4342	10	0.87932	D	0	-1.4413	19.7206	0.96142	0.0:1.0:0.0:0.0	.	117	Q9NXB9	ELOV2_HUMAN	L	117	ENSP00000346693:W117L	ENSP00000346693:W117L	W	-	2	0	ELOVL2	11103381	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.611000	0.82962	2.660000	0.90430	0.655000	0.94253	TGG		0.438	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			19	26	1	0	3.8784e-16	0.012319	5.96161e-16	19	26				
SLC17A1	6568	broad.mit.edu	37	6	25813179	25813179	+	Silent	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:25813179A>C	ENST00000244527.4	-	8	892	c.777T>G	c.(775-777)ctT>ctG	p.L259L	SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000476801.1_Silent_p.L259L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	259					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L259L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGCGACTTAAGTATAGCCT	0.383																																							uc003nfh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(775-777)CTT>CTG		solute carrier family 17 (sodium phosphate),							89.0	89.0	89.0					6																	25813179		2203	4300	6503	SO:0001819	synonymous_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25813179A>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.777T>G	6.37:g.25813179A>C						SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.L257L|SLC17A1_uc010jqc.1_Intron	p.L259L	NM_005074	NP_005065	Q14916	NPT1_HUMAN			8	893	-			259			Helical; (Potential).		A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	c.777T>G	CCDS4565.1																																																																																				0.383	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			30	23	0	0	0	0.003755	0	30	23				
HIST1H1E	3008	broad.mit.edu	37	6	26157085	26157085	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:26157085A>G	ENST00000304218.3	+	1	527	c.467A>G	c.(466-468)aAg>aGg	p.K156R	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	156					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K156R(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGACCCCAAAGAAGGCGAAG	0.627																																							uc003ngq.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(466-468)AAG>AGG		histone cluster 1, H1e							13.0	21.0	18.0					6																	26157085		2189	4285	6474	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157085A>G	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.467A>G	6.37:g.26157085A>G	ENSP00000307705:p.Lys156Arg					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.K156R	NM_005321	NP_005312	P10412	H14_HUMAN			1	527	+			156					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.467A>G	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.676914	0.67928	.	.	ENSG00000168298	ENST00000304218	T	0.24151	1.87	5.49	5.49	0.81192	.	0.178989	0.46145	D	0.000312	T	0.41003	0.1140	M	0.76328	2.33	0.53688	D	0.999977	D	0.63880	0.993	D	0.70227	0.968	T	0.24297	-1.0164	10	0.39692	T	0.17	-2.1063	15.0568	0.71921	1.0:0.0:0.0:0.0	.	156	P10412	H14_HUMAN	R	156	ENSP00000307705:K156R	ENSP00000307705:K156R	K	+	2	0	HIST1H1E	26265064	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.175000	0.71949	2.198000	0.70561	0.533000	0.62120	AAG		0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		5	6	0	0	0	0.000602	0	5	6				
HIST1H2BD	3017	broad.mit.edu	37	6	26158556	26158556	+	Silent	SNP	C	C	A	rs539155070	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:26158556C>A	ENST00000289316.2	+	1	183	c.159C>A	c.(157-159)acC>acA	p.T53T	HIST1H2BD_ENST00000377777.4_Silent_p.T53T	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	53					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T53T(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ATCCCGACACCGGCATCTCTT	0.557																																							uc003ngr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(157-159)ACC>ACA		histone cluster 1, H2bd							200.0	185.0	190.0					6																	26158556		2203	4300	6503	SO:0001819	synonymous_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158556C>A	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.159C>A	6.37:g.26158556C>A						HIST1H2BD_uc003ngs.2_Silent_p.T53T	p.T53T	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	208	+			53						Silent	SNP	ENST00000289316.2	37	c.159C>A	CCDS4587.1																																																																																				0.557	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		91	75	1	0	6.04572e-29	0.00361	1.08196e-28	91	75				
OR11A1	26531	broad.mit.edu	37	6	29394980	29394980	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:29394980C>A	ENST00000377149.1	-	5	911	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.V147F|OR11A1_ENST00000377147.2_Missense_Mutation_p.V147F			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V147F(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGGTTGTGACCACCAGCCCC	0.567																																							uc003nmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)GTC>TTC		olfactory receptor, family 11, subfamily A,							71.0	78.0	76.0					6																	29394980		1507	2708	4215	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394980C>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.439G>T	6.37:g.29394980C>A	ENSP00000366354:p.Val147Phe						p.V147F	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	530	-			147			Helical; Name=4; (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.439G>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	C	3.187	-0.166675	0.06461	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.38722	1.12;1.12;1.12	3.78	-1.83	0.07833	GPCR, rhodopsin-like superfamily (1);	1.419630	0.05212	N	0.507019	T	0.11281	0.0275	N	0.26092	0.79	0.09310	N	0.999996	B	0.14012	0.009	B	0.15870	0.014	T	0.33497	-0.9866	10	0.54805	T	0.06	-1.4496	5.7273	0.18020	0.0:0.2956:0.4349:0.2696	.	147	Q9GZK7	O11A1_HUMAN	F	147	ENSP00000366353:V147F;ENSP00000366354:V147F;ENSP00000366352:V147F	ENSP00000366352:V147F	V	-	1	0	OR11A1	29502959	0.000000	0.05858	0.490000	0.27465	0.212000	0.24457	-0.892000	0.04131	-0.766000	0.04639	-0.490000	0.04691	GTC		0.567	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			13	31	1	0	1.5842e-08	0.001855	2.04105e-08	13	31				
C6orf15	29113	broad.mit.edu	37	6	31079369	31079369	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:31079369T>C	ENST00000259870.3	-	2	770	c.767A>G	c.(766-768)tAt>tGt	p.Y256C		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	256	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.Y256C(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCCTCCTGGATACCGATTAAT	0.522																																							uc003nsk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(766-768)TAT>TGT		STG protein precursor							57.0	67.0	64.0					6																	31079369		1735	3290	5025	SO:0001583	missense	29113							g.chr6:31079369T>C	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.767A>G	6.37:g.31079369T>C	ENSP00000259870:p.Tyr256Cys						p.Y256C	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	767	-			256			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.767A>G	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956571	0.34565	.	.	ENSG00000204542	ENST00000259870	T	0.13307	2.6	3.81	2.59	0.31030	.	0.607687	0.13643	N	0.372833	T	0.17492	0.0420	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.05289	-1.0894	10	0.87932	D	0	.	7.4612	0.27296	0.1934:0.0:0.0:0.8065	.	256	Q6UXA7	CF015_HUMAN	C	256	ENSP00000259870:Y256C	ENSP00000259870:Y256C	Y	-	2	0	C6orf15	31187348	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	0.558000	0.23469	0.468000	0.27243	0.523000	0.50628	TAT		0.522	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		27	20	0	0	0	0.009535	0	27	20				
PRRC2A	7916	broad.mit.edu	37	6	31599147	31599147	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:31599147C>T	ENST00000376033.2	+	16	2931	c.2697C>T	c.(2695-2697)ggC>ggT	p.G899G	PRRC2A_ENST00000376007.4_Silent_p.G899G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	899	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G899G(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGAAGCAGGCCGAAAGCCTG	0.667																																							uc003nvb.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2695-2697)GGC>GGT		HLA-B associated transcript-2							29.0	23.0	25.0					6																	31599147		1508	2708	4216	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31599147C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2697C>T	6.37:g.31599147C>T						BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.G899G	p.G899G	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	2946	+			899			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.2697C>T	CCDS4708.1																																																																																				0.667	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	14	0	0	0	0.004482	0	8	14				
TNXB	7148	broad.mit.edu	37	6	32014146	32014146	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:32014146A>T	ENST00000375244.3	-	31	10613	c.10412T>A	c.(10411-10413)gTa>gAa	p.V3471E	TNXB_ENST00000375247.2_Missense_Mutation_p.V3469E|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3516	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V3536E(1)|p.V3471E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCTGGGCTACCGTCCAGGA	0.662																																							uc003nzl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(10405-10407)GTA>GAA		tenascin XB isoform 1 precursor							34.0	40.0	38.0					6																	32014146		1431	2661	4092	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32014146A>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10412T>A	6.37:g.32014146A>T	ENSP00000364393:p.Val3471Glu					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	p.V3469E	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10608	-			3516			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10406T>A		.	.	.	.	.	.	.	.	.	.	A	13.86	2.363748	0.41902	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.48;0.48	4.25	4.25	0.50352	.	0.361462	0.20614	N	0.088905	T	0.51907	0.1702	H	0.95187	3.635	0.09310	N	1	P	0.43633	0.813	P	0.48488	0.579	T	0.66870	-0.5814	10	0.05833	T	0.94	.	12.479	0.55831	1.0:0.0:0.0:0.0	.	3469	P22105-3	.	E	3471;3469	ENSP00000364393:V3471E;ENSP00000364396:V3469E	ENSP00000364393:V3471E	V	-	2	0	TNXB	32122124	0.831000	0.29352	0.751000	0.31187	0.045000	0.14185	4.401000	0.59716	1.772000	0.52199	0.260000	0.18958	GTA		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	8	0	0	0	0.006214	0	9	8				
TAP1	6890	broad.mit.edu	37	6	32818283	32818283	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:32818283C>A	ENST00000354258.4	-	5	1403	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	TAP1_ENST00000425148.2_Silent_p.V153V|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	414	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.V414V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCCGCACCTGCACTTCCAGCA	0.527																																							uc003ocg.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1240-1242)GTG>GTT		transporter 1, ATP-binding cassette, sub-family							53.0	58.0	56.0					6																	32818283		2203	4300	6503	SO:0001819	synonymous_variant	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818283C>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1242G>T	6.37:g.32818283C>A						TAP1_uc011dqi.1_Silent_p.V153V	p.V414V	NM_000593	NP_000584	Q03518	TAP1_HUMAN			5	1397	-			414			Cytoplasmic (Potential).|ABC transmembrane type-1.		Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	c.1242G>T	CCDS4758.1																																																																																				0.527	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		7	25	1	0	2.0095e-06	0.001984	2.37243e-06	7	25				
SPDEF	25803	broad.mit.edu	37	6	34512074	34512074	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:34512074C>A	ENST00000374037.3	-	2	573	c.159G>T	c.(157-159)caG>caT	p.Q53H	SPDEF_ENST00000544425.1_Missense_Mutation_p.Q53H	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	53					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q53H(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGGACAGGCCCTGCTCGGGCG	0.682																																							uc003ojq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(157-159)CAG>CAT		SAM pointed domain containing ets transcription							36.0	41.0	39.0					6																	34512074		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34512074C>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.159G>T	6.37:g.34512074C>A	ENSP00000363149:p.Gln53His					SPDEF_uc011dsq.1_Missense_Mutation_p.Q53H	p.Q53H	NM_012391	NP_036523	O95238	SPDEF_HUMAN			2	574	-			53					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.159G>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699059	0.30142	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.15603	2.41;2.6	4.97	3.14	0.36123	.	0.498805	0.17278	N	0.180107	T	0.04003	0.0112	L	0.27053	0.805	0.26448	N	0.975667	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.37174	-0.9717	10	0.56958	D	0.05	.	7.2672	0.26235	0.0:0.7003:0.1414:0.1583	.	53;53	F5H778;O95238	.;SPDEF_HUMAN	H	53	ENSP00000363149:Q53H;ENSP00000442715:Q53H	ENSP00000363149:Q53H	Q	-	3	2	SPDEF	34620052	0.992000	0.36948	1.000000	0.80357	0.921000	0.55340	0.320000	0.19540	0.460000	0.27045	0.591000	0.81541	CAG		0.682	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		16	16	1	0	2.4624e-09	0.008871	3.23287e-09	16	16				
CPNE5	57699	broad.mit.edu	37	6	36724072	36724073	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:36724072_36724073CC>AA	ENST00000244751.2	-	13	1482_1483	c.858_859GG>TT	c.(856-861)gtGGta>gtTTta	p.V287L	CPNE5_ENST00000393189.2_5'UTR|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	287						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.V287L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTCGGGTTTACCACCTGCAGGA	0.53																																							uc003omr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(856-861)GTGGTA>GTTTTA		copine V																																				SO:0001583	missense	57699							g.chr6:36724072_36724073CC>AA	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.858_859delinsAA	6.37:g.36724072_36724073delinsAA	ENSP00000244751:p.Val287Leu					CPNE5_uc003omp.1_5'UTR|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	p.V287L	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			13	925_926	-			287					Q7Z6C8	Missense_Mutation	DNP	ENST00000244751.2	37	c.858_859GG>TT	CCDS4825.1																																																																																				0.530	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		7	20	0	0	0	0.004672	0	7	20				
LRFN2	57497	broad.mit.edu	37	6	40399866	40399866	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:40399866C>A	ENST00000338305.6	-	2	1529	c.987G>T	c.(985-987)ctG>ctT	p.L329L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	329	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L329L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTTCCCTACCAGGCGGTCAT	0.587																																							uc003oph.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(985-987)CTG>CTT		leucine rich repeat and fibronectin type III							48.0	43.0	45.0					6																	40399866		2200	4298	6498	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399866C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.987G>T	6.37:g.40399866C>A							p.L329L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1452	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		329			Extracellular (Potential).|Ig-like.		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.987G>T	CCDS34443.1																																																																																				0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		17	18	1	0	7.81268e-19	0.00499	1.28013e-18	17	18				
EFHC1	114327	broad.mit.edu	37	6	52343958	52343958	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:52343958G>T	ENST00000371068.5	+	8	1505	c.1402G>T	c.(1402-1404)Ggc>Tgc	p.G468C	EFHC1_ENST00000433625.2_Missense_Mutation_p.G377C|EFHC1_ENST00000538167.1_Missense_Mutation_p.G449C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	468	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.G468C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAAGTACCTTGGCAGGACTAA	0.453																																							uc003pap.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1402-1404)GGC>TGC		EF-hand domain (C-terminal) containing 1							161.0	148.0	153.0					6																	52343958		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52343958G>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1402G>T	6.37:g.52343958G>T	ENSP00000360107:p.Gly468Cys					EFHC1_uc011dwv.1_Missense_Mutation_p.G377C|EFHC1_uc011dww.1_Missense_Mutation_p.G449C	p.G468C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			8	1617	+	Lung NSC(77;0.109)		468			DM10 3.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.1402G>T	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755383	0.69648	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.43294	0.95;0.95;0.95	5.89	4.84	0.62591	Uncharacterised domain DM10 (2);	0.416661	0.29383	N	0.012312	T	0.43964	0.1271	L	0.36672	1.1	0.37553	D	0.918779	D;D;D	0.71674	0.998;0.997;0.993	P;D;P	0.64506	0.893;0.926;0.886	T	0.41016	-0.9532	10	0.66056	D	0.02	-21.5148	14.7505	0.69522	0.1207:0.0:0.8793:0.0	.	449;377;468	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	C	468;377;449	ENSP00000360107:G468C;ENSP00000416492:G377C;ENSP00000444521:G449C	ENSP00000360107:G468C	G	+	1	0	EFHC1	52451917	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.799000	0.55529	2.788000	0.95919	0.585000	0.79938	GGC		0.453	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		20	81	1	0	8.10497e-08	0.010504	1.01886e-07	20	81				
HCRTR2	3062	broad.mit.edu	37	6	55119937	55119937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:55119937G>T	ENST00000370862.3	+	3	742	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	136					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.V136L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTCTAGACCGTGTCGGTGTC	0.413																																							uc003pcl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(406-408)GTG>TTG		orexin receptor 2							105.0	93.0	97.0					6																	55119937		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55119937G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.406G>T	6.37:g.55119937G>T	ENSP00000359899:p.Val136Leu					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.V71L	p.V136L	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	721	+	Lung NSC(77;0.107)|Renal(3;0.122)		136			Helical; Name=3; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.406G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279991	0.40294	.	.	ENSG00000137252	ENST00000370862	T	0.19669	2.13	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.057381	0.64402	D	0.000001	T	0.25938	0.0632	L	0.42529	1.33	0.58432	D	0.999992	P;D	0.57257	0.95;0.979	P;P	0.62885	0.866;0.908	T	0.01165	-1.1431	10	0.24483	T	0.36	.	18.3959	0.90497	0.0:0.0:1.0:0.0	.	136;136	Q548Y0;O43614	.;OX2R_HUMAN	L	136	ENSP00000359899:V136L	ENSP00000359899:V136L	V	+	1	0	HCRTR2	55227896	1.000000	0.71417	0.990000	0.47175	0.102000	0.19082	7.391000	0.79828	2.345000	0.79718	0.484000	0.47621	GTG		0.413	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			19	19	1	0	1.9806e-07	0.002299	2.44038e-07	19	19				
ZNF451	26036	broad.mit.edu	37	6	57012581	57012581	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:57012581A>G	ENST00000370706.4	+	10	1942	c.1698A>G	c.(1696-1698)gtA>gtG	p.V566V	RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Silent_p.V566V|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Silent_p.V566V	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	566					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V566V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGATGAGGTAGAAGGTGAAA	0.378																																							uc003pdm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1696-1698)GTA>GTG		zinc finger protein 451 isoform 1							148.0	149.0	148.0					6																	57012581		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012581A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1698A>G	6.37:g.57012581A>G						ZNF451_uc003pdl.2_Silent_p.V566V|ZNF451_uc003pdn.1_Silent_p.V566V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.V566V	p.V566V	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1922	+	Lung NSC(77;0.145)		566					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.1698A>G	CCDS43477.1																																																																																				0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		55	44	0	0	0	0.00361	0	55	44				
PRIM2	5558	broad.mit.edu	37	6	57398234	57398234	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:57398234C>A	ENST00000607273.1	+	10	1024	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	313					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.L313M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGTCCTATTTCTGAAGGGCAT	0.388																																							uc003pdx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CTG>ATG		DNA primase polypeptide 2							227.0	210.0	215.0					6																	57398234		1961	4161	6122	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57398234C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.937C>A	6.37:g.57398234C>A	ENSP00000475738:p.Leu313Met						p.L313M	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	10	1024	+			313					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.937C>A																																																																																					0.388	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		22	96	1	0	2.32416e-17	0.002299	3.6632e-17	22	96				
BAI3	577	broad.mit.edu	37	6	70049223	70049223	+	Splice_Site	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:70049223A>T	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTCTCAACAGGGCGTCTCT	0.483																																							uc003pev.3		NA																	1	Unknown(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.e26-2		brain-specific angiogenesis inhibitor 3							261.0	243.0	249.0					6																	70049223		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049223A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3288-1A>T	6.37:g.70049223A>T						BAI3_uc010kak.2_Splice_Site_p.M1096_splice|BAI3_uc011dxx.1_Splice_Site_p.M302_splice|BAI3_uc003pex.1_Splice_Site_p.M226_splice	p.M1096_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN			26	3736	+		all_lung(197;0.212)						B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	c.3288_splice	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181825	0.57800	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	70105944	1.000000	0.71417	0.996000	0.52242	0.587000	0.36485	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	.		0.483	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	82	110	0	0	0	0.00361	0	82	110				
ASCC3	10973	broad.mit.edu	37	6	101214441	101214441	+	Splice_Site	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:101214441C>A	ENST00000369162.2	-	10	2081	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	ASCC3_ENST00000522650.1_Splice_Site_p.Q579H	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	579	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.Q579H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACAACATACCTGAGTTCGTA	0.308																																							uc003pqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1735-1737)CAG>CAT		activating signal cointegrator 1 complex subunit							108.0	105.0	106.0					6																	101214441		2203	4300	6503	SO:0001630	splice_region_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101214441C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1737+1G>T	6.37:g.101214441C>A						ASCC3_uc011eai.1_Missense_Mutation_p.Q481H|ASCC3_uc003pql.2_Missense_Mutation_p.Q579H	p.Q579H	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	10	2066	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	579			Helicase ATP-binding 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1737G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669197	0.88348	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.36520	1.25;1.25	5.3	5.3	0.74995	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.28014	0.82	0.80722	D	1	P;P	0.48407	0.637;0.91	P;P	0.53912	0.612;0.737	T	0.01661	-1.1301	9	.	.	.	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	579;579	E7EW23;Q8N3C0	.;HELC1_HUMAN	H	579	ENSP00000358159:Q579H;ENSP00000430769:Q579H	.	Q	-	3	2	ASCC3	101321162	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.636000	0.89361	0.591000	0.81541	CAG		0.308	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Missense_Mutation	33	36	1	0	4.4194e-11	0.002836	5.99225e-11	33	36				
GRIK2	2898	broad.mit.edu	37	6	102372516	102372517	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:102372516_102372517CC>AA	ENST00000421544.1	+	12	2279_2280	c.1789_1790CC>AA	c.(1789-1791)CCt>AAt	p.P597N	GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000413795.1_Missense_Mutation_p.P597N|GRIK2_ENST00000369138.1_Missense_Mutation_p.P597N|GRIK2_ENST00000369134.4_Missense_Mutation_p.P548N|GRIK2_ENST00000318991.6_Missense_Mutation_p.P597N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	597					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P597N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCCTTGCAACCCTGACTCAGAC	0.396																																							uc003pqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1789-1791)CCT>AAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102372516_102372517CC>AA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	Exception_encountered	6.37:g.102372516_102372517delinsAA	ENSP00000397026:p.Pro597Asn					GRIK2_uc003pqo.3_Missense_Mutation_p.P597N|GRIK2_uc010kcw.2_Missense_Mutation_p.P597N	p.P597N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	12	2038_2039	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	597			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	DNP	ENST00000421544.1	37	c.1789_1790CC>AA	CCDS5048.1																																																																																				0.396	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			26	50	0	0	0	0.004672	0	26	50				
FYN	2534	broad.mit.edu	37	6	112025246	112025246	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:112025246T>A	ENST00000354650.3	-	7	1109	c.503A>T	c.(502-504)aAc>aTc	p.N168I	FYN_ENST00000368667.2_Missense_Mutation_p.N168I|FYN_ENST00000356013.2_Missense_Mutation_p.N168I|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000538466.1_Missense_Mutation_p.N168I|FYN_ENST00000229470.5_Missense_Mutation_p.N119I|FYN_ENST00000368682.3_Missense_Mutation_p.N168I|FYN_ENST00000368678.4_Missense_Mutation_p.N168I|FYN_ENST00000229471.4_Missense_Mutation_p.N168I	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	168	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N168I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACCTCTTGGGTTTCCAAAGGA	0.393																																							uc003pvj.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(502-504)AAC>ATC		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						135.0	127.0	130.0					6																	112025246		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112025246T>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.503A>T	6.37:g.112025246T>A	ENSP00000346671:p.Asn168Ile					FYN_uc003pvi.2_Missense_Mutation_p.N168I|FYN_uc003pvk.2_Missense_Mutation_p.N168I|FYN_uc003pvh.2_Missense_Mutation_p.N168I|FYN_uc010kdy.1_5'Flank	p.N168I	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	6	843	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	168			SH2.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.503A>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856828	0.91433	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419	D;D;D;D;D;D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	6.07	6.07	0.98685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93654	0.7973	M	0.78285	2.405	0.80722	D	1	D;P;D	0.89917	0.981;0.713;1.0	D;B;D	0.97110	0.92;0.288;1.0	D	0.94300	0.7536	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	168;168;168	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	I	168;168;168;168;168;119;168;168;119;168;168;168	ENSP00000357671:N168I;ENSP00000346671:N168I;ENSP00000229471:N168I;ENSP00000357656:N168I;ENSP00000357667:N168I;ENSP00000229470:N119I;ENSP00000348295:N168I;ENSP00000440646:N168I;ENSP00000427993:N168I;ENSP00000429294:N168I;ENSP00000429866:N168I	ENSP00000229470:N119I	N	-	2	0	FYN	112131939	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.290000	0.72712	2.326000	0.78906	0.533000	0.62120	AAC		0.393	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			33	20	0	0	0	0.003755	0	33	20				
GPR126	57211	broad.mit.edu	37	6	142630733	142630733	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:142630733C>T	ENST00000230173.6	+	2	531	c.55C>T	c.(55-57)Cct>Tct	p.P19S	GPR126_ENST00000296932.8_Missense_Mutation_p.P19S|GPR126_ENST00000367608.2_Missense_Mutation_p.P19S|GPR126_ENST00000367609.3_Missense_Mutation_p.P19S|GPR126_ENST00000545477.1_3'UTR	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	19					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P19S(1)|p.P18S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAGCCCAGTCCTCTCCTGTT	0.413																																							uc010khc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(55-57)CCT>TCT		G protein-coupled receptor 126 alpha 1							101.0	98.0	99.0					6																	142630733		1892	4113	6005	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142630733C>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.55C>T	6.37:g.142630733C>T	ENSP00000230173:p.Pro19Ser					GPR126_uc010khd.2_Missense_Mutation_p.P19S|GPR126_uc010khe.2_Missense_Mutation_p.P19S|GPR126_uc010khf.2_Missense_Mutation_p.P19S|GPR126_uc003qix.2_Missense_Mutation_p.P19S	p.P19S	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	2	466	+	Breast(32;0.176)		19					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.55C>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	8.739	0.918606	0.17982	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.22539	1.96;1.95;1.95;1.97;2.15;1.98	5.54	-3.27	0.05048	.	2.083720	0.02032	N	0.048582	T	0.02083	0.0065	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002	T	0.23154	-1.0196	10	0.09590	T	0.72	.	1.9604	0.03385	0.1308:0.1645:0.3903:0.3144	.	19;19;19;19;18	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	S	19;19;19;19;18;18	ENSP00000230173:P19S;ENSP00000356580:P19S;ENSP00000296932:P19S;ENSP00000356581:P19S;ENSP00000446287:P18S;ENSP00000438366:P18S	ENSP00000230173:P19S	P	+	1	0	GPR126	142672426	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-0.720000	0.04969	-0.929000	0.03757	0.557000	0.71058	CCT		0.413	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			3	4	0	0	0	0.004672	0	3	4				
LPA	4018	broad.mit.edu	37	6	160998325	160998325	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:160998325G>T	ENST00000316300.5	-	28	4518	c.4474C>A	c.(4474-4476)Cca>Aca	p.P1492T	LPA_ENST00000447678.1_Missense_Mutation_p.P1492T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4000	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.P1492T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCTCAGGTGGTGCTGAAATT	0.433																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4474-4476)CCA>ACA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						76.0	81.0	79.0					6																	160998325		2185	4298	6483	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998325G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4474C>A	6.37:g.160998325G>T	ENSP00000321334:p.Pro1492Thr						p.P1492T	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4594	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4000			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4474C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	6.495	0.459519	0.12342	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63744	-0.06;-0.06	2.55	2.55	0.30701	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.61362	0.2341	M	0.75777	2.31	0.09310	N	1	P	0.39376	0.67	P	0.57776	0.827	T	0.53585	-0.8418	9	0.25106	T	0.35	.	8.5946	0.33707	0.0:0.0:1.0:0.0	.	4000	P08519	APOA_HUMAN	T	1492	ENSP00000321334:P1492T;ENSP00000395608:P1492T	ENSP00000321334:P1492T	P	-	1	0	LPA	160918315	0.000000	0.05858	0.018000	0.16275	0.089000	0.18198	0.427000	0.21379	1.410000	0.46936	0.430000	0.28490	CCA		0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		27	14	1	0	1.5548e-18	0.005443	2.52757e-18	27	14				
PARK2	5071	broad.mit.edu	37	6	161969941	161969941	+	Missense_Mutation	SNP	G	G	T	rs529808032		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:161969941G>T	ENST00000366898.1	-	9	1130	c.1028C>A	c.(1027-1029)cCg>cAg	p.P343Q	PARK2_ENST00000366892.1_Missense_Mutation_p.P343Q|PARK2_ENST00000366897.1_Missense_Mutation_p.P315Q|PARK2_ENST00000366894.1_Missense_Mutation_p.P152Q|PARK2_ENST00000366896.1_Missense_Mutation_p.P194Q|PARK2_ENST00000338468.3_Missense_Mutation_p.P152Q	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	343					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.P343Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637																																							uc003qtx.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1027-1029)CCG>CAG		parkin isoform 1							63.0	65.0	64.0					6																	161969941		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969941G>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1028C>A	6.37:g.161969941G>T	ENSP00000355865:p.Pro343Gln					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.P152Q|PARK2_uc003qtw.3_Missense_Mutation_p.P152Q|PARK2_uc003qty.3_Missense_Mutation_p.P315Q|PARK2_uc003qtz.3_Missense_Mutation_p.P194Q|PARK2_uc010kke.1_Missense_Mutation_p.P362Q|PARK2_uc011egf.1_Missense_Mutation_p.P17Q	p.P343Q	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1162	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	343			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1028C>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989559	0.53934	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.72	4.86	0.63082	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	M	0.64404	1.975	0.44852	D	0.997863	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;0.999;1.0	D	0.89682	0.3891	10	0.20519	T	0.43	.	13.0206	0.58784	0.0744:0.0:0.9256:0.0	.	362;194;315;343;152	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	Q	343;315;194;152;152;152;343	ENSP00000355865:P343Q;ENSP00000355863:P315Q;ENSP00000355862:P194Q;ENSP00000355860:P152Q;ENSP00000343589:P152Q;ENSP00000355858:P343Q	ENSP00000343589:P152Q	P	-	2	0	PARK2	161889931	1.000000	0.71417	0.448000	0.26945	0.296000	0.27459	7.804000	0.85993	1.416000	0.47057	0.650000	0.86243	CCG		0.637	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			52	18	1	0	3.76525e-18	0.00361	6.08911e-18	52	18				
TCP10L2	401285	broad.mit.edu	37	6	167592552	167592552	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:167592552A>T	ENST00000366832.2	+	6	842	c.711A>T	c.(709-711)ccA>ccT	p.P237P		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	237								p.P237P(2)		endometrium(1)|kidney(2)|lung(3)	6						GAAAATCACCAGTGCAGGCTT	0.577																																							uc010kkp.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(709-711)CCA>CCT		t-complex 10-like 2							28.0	30.0	29.0					6																	167592552		692	1591	2283	SO:0001819	synonymous_variant	401285							g.chr6:167592552A>T		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.711A>T	6.37:g.167592552A>T							p.P237P	NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN			6	842	+			237						Silent	SNP	ENST00000366832.2	37	c.711A>T	CCDS47514.1																																																																																				0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		6	0	0	0	0	0.008291	0	6	0				
MAD1L1	8379	broad.mit.edu	37	7	2108973	2108973	+	Splice_Site	SNP	G	G	A	rs376951121		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:2108973G>A	ENST00000406869.1	-	12	1631	c.1074C>T	c.(1072-1074)agC>agT	p.S358S	MAD1L1_ENST00000402746.1_Splice_Site_p.S266S|MAD1L1_ENST00000399654.2_Splice_Site_p.S358S|MAD1L1_ENST00000265854.7_Splice_Site_p.S358S			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	358					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.S358S(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCCCCGGGCGCTGCATGGGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		12922	0.001		0.0	False		,,,				2504	0.0						uc003slh.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1072-1074)AGC>AGT		MAD1-like 1 protein							16.0	19.0	18.0					7																	2108973		1993	4154	6147	SO:0001630	splice_region_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2108973G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1074-1C>T	7.37:g.2108973G>A						MAD1L1_uc003sle.1_Silent_p.S87S|MAD1L1_uc003slf.1_Silent_p.S358S|MAD1L1_uc003slg.1_Silent_p.S358S|MAD1L1_uc010ksh.1_Silent_p.S358S|MAD1L1_uc003sli.1_Silent_p.S266S|MAD1L1_uc010ksi.1_Silent_p.S311S|MAD1L1_uc010ksj.2_Silent_p.S358S	p.S358S	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	12	1340	-		Ovarian(82;0.0272)	358			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1074C>T	CCDS43539.1																																																																																				0.662	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	Silent	10	12	0	0	0	0.008291	0	10	12				
TTYH3	80727	broad.mit.edu	37	7	2696151	2696151	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:2696151C>T	ENST00000258796.7	+	11	1438	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	TTYH3_ENST00000403167.1_Silent_p.H240H|TTYH3_ENST00000407643.1_Silent_p.H379H	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	411					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.H411H(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGTCCCGCACACCTGGCAGC	0.632																																							uc003smp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)CAC>CAT		tweety 3							58.0	53.0	55.0					7																	2696151		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2696151C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1233C>T	7.37:g.2696151C>T						TTYH3_uc010ksn.2_Silent_p.H131H|TTYH3_uc003smq.2_Silent_p.H240H	p.H411H	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	11	1420	+		Ovarian(82;0.0112)	411			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1233C>T	CCDS34588.1																																																																																				0.632	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		10	47	0	0	0	0.008291	0	10	47				
GLCCI1	113263	broad.mit.edu	37	7	8062173	8062174	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:8062173_8062174TG>AT	ENST00000223145.5	+	3	1227_1228	c.670_671TG>AT	c.(670-672)TGg>ATg	p.W224M	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	224						cytoplasm (GO:0005737)		p.W224M(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTCTGCGTCATGGGGGAGTGCT	0.361																																							uc003srk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(670-672)TGG>ATG		glucocorticoid induced transcript 1																																				SO:0001583	missense	113263							g.chr7:8062173_8062174TG>AT	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	Exception_encountered	7.37:g.8062173_8062174delinsAT	ENSP00000223145:p.Trp224Met						p.W224M	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	3	1229_1230	+		Ovarian(82;0.0608)	224					A4D103|Q96FD0	Missense_Mutation	DNP	ENST00000223145.5	37	c.670_671TG>AT	CCDS34601.1																																																																																				0.361	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		16	11	0	0	0	0.004672	0	16	11				
DNAH11	8701	broad.mit.edu	37	7	21730382	21730382	+	Splice_Site	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:21730382G>C	ENST00000409508.3	+	35	5955		c.e35-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						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)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTATGGTAGATTTGTATTT	0.353									Kartagener syndrome																														uc003svc.2		NA																	1	Unknown(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.e36-1		dynein, axonemal, heavy chain 11							141.0	135.0	137.0					7																	21730382		1830	4088	5918	SO:0001630	splice_region_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21730382G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5925-1G>C	7.37:g.21730382G>C							p.R1982_splice	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			36	5977	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37	c.5946_splice		.	.	.	.	.	.	.	.	.	.	G	26.5	4.745330	0.89663	.	.	ENSG00000105877	ENST00000328843	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21696907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.281000	0.72632	2.941000	0.99782	0.655000	0.94253	.		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	26	73	0	0	0	0.005443	0	26	73				
HOXA6	3203	broad.mit.edu	37	7	27185361	27185361	+	Silent	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:27185361G>C	ENST00000222728.3	-	2	642	c.618C>G	c.(616-618)cgC>cgG	p.R206R	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA5_ENST00000222726.3_5'Flank	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	206					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R206R(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTTCATGCGGCGGTTCTGGA	0.602																																							uc003syo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)CGC>CGG		homeobox A6							165.0	158.0	160.0					7																	27185361		2203	4300	6503	SO:0001819	synonymous_variant	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185361G>C		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.618C>G	7.37:g.27185361G>C						HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	p.R206R	NM_024014	NP_076919	P31267	HXA6_HUMAN			2	618	-			206			Homeobox.		A4D192|Q2M3G3|Q9UPM0	Silent	SNP	ENST00000222728.3	37	c.618C>G	CCDS5407.1																																																																																				0.602	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			43	118	0	0	0	0.009718	0	43	118				
HOXA13	3209	broad.mit.edu	37	7	27238027	27238027	+	Nonsense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:27238027A>C	ENST00000222753.4	-	2	985	c.957T>G	c.(955-957)taT>taG	p.Y319*	HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000605136.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	319					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Y319*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCCCCCTCCTATAGGAGCTGG	0.512			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003szb.1		NA		Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(955-957)TAT>TAG		homeobox A13							93.0	95.0	94.0					7																	27238027		2203	4300	6503	SO:0001587	stop_gained	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27238027A>C		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.957T>G	7.37:g.27238027A>C	ENSP00000222753:p.Tyr319*		OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	uc003szc.1_5'Flank	p.Y319*	NM_000522	NP_000513	P31271	HXA13_HUMAN			2	986	-			319					A4D188|O43371	Nonsense_Mutation	SNP	ENST00000222753.4	37	c.957T>G	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	A	37	6.177941	0.97352	.	.	ENSG00000106031	ENST00000222753	.	.	.	5.71	1.34	0.21922	.	0.313684	0.31392	N	0.007721	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1562	0.54079	0.2059:0.0:0.7941:0.0	.	.	.	.	X	319	.	ENSP00000222753:Y319X	Y	-	3	2	HOXA13	27204552	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.704000	0.25661	0.195000	0.20347	-0.371000	0.07208	TAT		0.512	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			24	72	0	0	0	0.00333	0	24	72				
AEBP1	165	broad.mit.edu	37	7	44148746	44148746	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:44148746C>T	ENST00000223357.3	+	8	1364	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000454218.1_3'UTR|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	353					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T353T(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGGAGGAGACCGACAAGTGGG	0.612																																							uc003tkb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1057-1059)ACC>ACT		adipocyte enhancer binding protein 1 precursor							89.0	98.0	95.0					7																	44148746		2203	4300	6503	SO:0001819	synonymous_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44148746C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1059C>T	7.37:g.44148746C>T						AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	p.T353T	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			8	1364	+			353					Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	c.1059C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	1.479	-0.557774	0.03967	.	.	ENSG00000106624	ENST00000455443	.	.	.	4.5	-8.99	0.00751	.	.	.	.	.	.	.	.	.	.	.	0.30555	N	0.765045	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.5701	0.8133	0.01098	0.2882:0.2731:0.275:0.1637	.	.	.	.	X	246	.	.	R	+	1	2	AEBP1	44115271	0.002000	0.14202	0.024000	0.17045	0.404000	0.30871	-2.283000	0.01155	-1.982000	0.00988	-0.339000	0.08088	CGA		0.612	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	14	0	0	0	0.008291	0	8	14				
PKD1L1	168507	broad.mit.edu	37	7	47842854	47842854	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:47842854C>T	ENST00000289672.2	-	53	7966	c.7916G>A	c.(7915-7917)tGc>tAc	p.C2639Y	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2639					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.C2639Y(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGAGGAGCAGGATGCCAT	0.483																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(7915-7917)TGC>TAC		polycystin-1L1							152.0	136.0	141.0					7																	47842854		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47842854C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7916G>A	7.37:g.47842854C>T	ENSP00000289672:p.Cys2639Tyr					C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.C2639Y	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			53	7916	-			2639			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7916G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343300	0.24339	.	.	ENSG00000158683	ENST00000289672	T	0.69306	-0.39	4.92	1.84	0.25277	Polycystin cation channel, PKD1/PKD2 (1);	1.894060	0.02757	N	0.118212	T	0.56978	0.2022	N	0.24115	0.695	0.09310	N	0.999998	P	0.46952	0.887	P	0.45913	0.497	T	0.48758	-0.9007	10	0.02654	T	1	-1.9663	11.8004	0.52124	0.4326:0.5674:0.0:0.0	.	2639	Q8TDX9	PK1L1_HUMAN	Y	2639	ENSP00000289672:C2639Y	ENSP00000289672:C2639Y	C	-	2	0	PKD1L1	47809379	0.669000	0.27502	0.004000	0.12327	0.140000	0.21249	0.711000	0.25764	0.061000	0.16311	0.551000	0.68910	TGC		0.483	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	39	0	0	0	0.006214	0	9	39				
ZPBP	11055	broad.mit.edu	37	7	50070781	50070781	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:50070781G>T	ENST00000046087.2	-	5	682	c.613C>A	c.(613-615)Ctt>Att	p.L205I	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.L204I	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	205					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.L205I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCACATGAAAGGTCAAGAAGC	0.358																																							uc003tou.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(613-615)CTT>ATT		zona pellucida binding protein isoform 1							71.0	75.0	74.0					7																	50070781		2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50070781G>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.613C>A	7.37:g.50070781G>T	ENSP00000046087:p.Leu205Ile					ZPBP_uc011kci.1_Missense_Mutation_p.L131I|ZPBP_uc010kyw.2_Missense_Mutation_p.L204I	p.L205I	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			5	683	-	Glioma(55;0.08)|all_neural(89;0.245)		205					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.613C>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645581	0.47258	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.63744	-0.06;-0.06	5.17	5.17	0.71159	.	0.000000	0.53938	D	0.000058	T	0.62048	0.2396	M	0.80183	2.485	0.36938	D	0.892224	B;B	0.31413	0.322;0.322	B;B	0.30029	0.11;0.11	T	0.67086	-0.5759	9	.	.	.	-22.3434	11.3279	0.49458	0.0854:0.0:0.9146:0.0	.	204;205	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	I	205;204	ENSP00000046087:L205I;ENSP00000402071:L204I	.	L	-	1	0	ZPBP	50041327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.313000	0.43735	2.564000	0.86499	0.655000	0.94253	CTT		0.358	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		12	58	1	0	7.03913e-09	0.001368	9.16415e-09	12	58				
DDC	1644	broad.mit.edu	37	7	50605628	50605628	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:50605628A>C	ENST00000444124.2	-	4	565	c.365T>G	c.(364-366)cTc>cGc	p.L122R	DDC_ENST00000380984.4_Missense_Mutation_p.L122R|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.L122R|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.L122R	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	122	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.L122R(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CATCTTCCCGAGCCAGTCCAT	0.552																																							uc003tpf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(364-366)CTC>CGC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						85.0	75.0	79.0					7																	50605628		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50605628A>C		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.365T>G	7.37:g.50605628A>C	ENSP00000403644:p.Leu122Arg					DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.L122R	p.L122R	NM_000790	NP_000781	P20711	DDC_HUMAN			4	451	-	Glioma(55;0.08)|all_neural(89;0.245)		122			2.|2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.365T>G	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678486	0.88542	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	T;T;T;T	0.53640	0.61;0.71;0.61;0.61	5.62	5.62	0.85841	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87483	0.2422	10	0.87932	D	0	-13.6873	15.8188	0.78624	1.0:0.0:0.0:0.0	.	122	P20711	DDC_HUMAN	R	122	ENSP00000350616:L122R;ENSP00000399184:L122R;ENSP00000403644:L122R;ENSP00000370371:L122R	ENSP00000350616:L122R	L	-	2	0	DDC	50573122	1.000000	0.71417	0.935000	0.37517	0.925000	0.55904	9.302000	0.96175	2.145000	0.66743	0.482000	0.46254	CTC		0.552	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			17	16	0	0	0	0.00499	0	17	16				
ZNF716	441234	broad.mit.edu	37	7	57522863	57522863	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:57522863C>A	ENST00000420713.1	+	3	363	c.251C>A	c.(250-252)gCc>gAc	p.A84D		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A84D(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGATGGTAGCCAAACACCCA	0.438																																							uc011kdi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(250-252)GCC>GAC		zinc finger protein 716							91.0	72.0	78.0					7																	57522863		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522863C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.251C>A	7.37:g.57522863C>A	ENSP00000394248:p.Ala84Asp						p.A84D	NM_001159279	NP_001152751					3	363	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.251C>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275035	0.23307	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05447	3.44	0.128	0.128	0.14733	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	L	0.38175	1.15	0.23496	N	0.997554	P	0.40476	0.718	B	0.33890	0.172	T	0.42749	-0.9433	8	0.25106	T	0.35	.	.	.	.	.	72	A6NP11	ZN716_HUMAN	D	84;72	ENSP00000394248:A84D	ENSP00000387687:A72D	A	+	2	0	ZNF716	57526805	0.000000	0.05858	0.740000	0.30986	0.744000	0.42396	0.459000	0.21908	0.283000	0.22279	0.289000	0.19496	GCC		0.438	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		16	50	1	0	4.14922e-12	0.004007	5.75148e-12	16	50				
FZD9	8326	broad.mit.edu	37	7	72849355	72849355	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:72849355C>G	ENST00000344575.3	+	1	1247	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	340					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGGTTCCTGGCTGCCGG	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1018-1020)CTG>GTG		frizzled 9 precursor							72.0	68.0	69.0					7																	72849355		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849355C>G	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1018C>G	7.37:g.72849355C>G	ENSP00000345785:p.Leu340Val						p.L340V	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1247	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	340			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.1018C>G	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970235	0.53614	.	.	ENSG00000188763	ENST00000344575	D	0.84442	-1.85	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.53938	U	0.000052	D	0.94758	0.8308	H	0.96142	3.775	0.50632	D	0.999884	D	0.89917	1.0	D	0.97110	1.0	D	0.96597	0.9442	10	0.87932	D	0	.	16.0988	0.81152	0.0:1.0:0.0:0.0	.	340	O00144	FZD9_HUMAN	V	340	ENSP00000345785:L340V	ENSP00000345785:L340V	L	+	1	2	FZD9	72487291	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.910000	0.56371	2.105000	0.64084	0.563000	0.77884	CTG		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			26	35	0	0	0	0.010818	0	26	35				
KIAA1324L	222223	broad.mit.edu	37	7	86537030	86537030	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:86537030C>A	ENST00000450689.2	-	18	2699	c.2514G>T	c.(2512-2514)agG>agT	p.R838S	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.R598S|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R767S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.R671S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	838						integral component of membrane (GO:0016021)		p.R598S(1)|p.R838S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TAGGATTACACCTCATTTTCA	0.358																																							uc011kha.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(1)	7						c.(2512-2514)AGG>AGT		hypothetical protein LOC222223 isoform 1							124.0	111.0	116.0					7																	86537030		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86537030C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2514G>T	7.37:g.86537030C>A	ENSP00000413445:p.Arg838Ser					KIAA1324L_uc003uif.1_Missense_Mutation_p.R598S|KIAA1324L_uc011kgz.1_Missense_Mutation_p.R724S|KIAA1324L_uc003uie.2_Missense_Mutation_p.R671S	p.R838S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			18	2699	-	Esophageal squamous(14;0.0058)		838			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2514G>T	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.364439|4.364439	0.82463|0.82463	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.03801|.	3.8;3.8;3.8;3.8|.	6.11|6.11	-1.53|-1.53	0.08611|0.08611	Mannose-6-phosphate receptor, binding (1);|.	0.089411|.	0.85682|.	D|.	0.000000|.	T|T	0.71871|0.71871	0.3391|0.3391	M|M	0.82823|0.82823	2.61|2.61	0.48632|0.48632	D|D	0.999687|0.999687	D;P;P|.	0.71674|.	0.998;0.925;0.873|.	D;P;P|.	0.70016|.	0.967;0.691;0.461|.	T|T	0.72623|0.72623	-0.4237|-0.4237	10|5	0.72032|.	D|.	0.01|.	.|.	11.1827|11.1827	0.48638|0.48638	0.0:0.4252:0.0:0.5748|0.0:0.4252:0.0:0.5748	.|.	838;598;671|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	S|L	838;598;767;671|799	ENSP00000413445:R838S;ENSP00000297222:R598S;ENSP00000397377:R767S;ENSP00000402390:R671S|.	ENSP00000297222:R598S|.	R|V	-|-	3|1	2|0	KIAA1324L|KIAA1324L	86374966|86374966	0.994000|0.994000	0.37717|0.37717	0.990000|0.990000	0.47175|0.47175	0.998000|0.998000	0.95712|0.95712	0.207000|0.207000	0.17395|0.17395	-0.166000|-0.166000	0.10890|0.10890	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.358	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		31	36	1	0	2.61193e-14	0.009535	3.83454e-14	31	36				
KIAA1324L	222223	broad.mit.edu	37	7	86568131	86568131	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:86568131T>C	ENST00000450689.2	-	7	1178	c.993A>G	c.(991-993)caA>caG	p.Q331Q	KIAA1324L_ENST00000297222.6_Silent_p.Q91Q|KIAA1324L_ENST00000444627.1_Silent_p.Q331Q|KIAA1324L_ENST00000416314.1_Silent_p.Q164Q	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	331						integral component of membrane (GO:0016021)		p.Q331Q(1)|p.Q91Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACCTGAAAATTGAGAGTCGT	0.378																																							uc011kha.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(1)	7						c.(991-993)CAA>CAG		hypothetical protein LOC222223 isoform 1							141.0	139.0	140.0					7																	86568131		2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86568131T>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.993A>G	7.37:g.86568131T>C						KIAA1324L_uc003uif.1_Silent_p.Q91Q|KIAA1324L_uc011kgz.1_Silent_p.Q217Q|KIAA1324L_uc003uie.2_Silent_p.Q164Q	p.Q331Q	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			7	1178	-	Esophageal squamous(14;0.0058)		331			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.993A>G	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	8.514	0.867212	0.17250	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.62	-6.98	0.01611	.	.	.	.	.	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48614	-0.9020	4	.	.	.	.	6.4119	0.21696	0.2982:0.1722:0.0:0.5295	.	.	.	.	V	292	.	.	I	-	1	0	KIAA1324L	86406067	0.000000	0.05858	0.838000	0.33150	0.961000	0.63080	-1.853000	0.01666	-1.641000	0.01523	0.460000	0.39030	ATT		0.378	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		23	69	0	0	0	0.003954	0	23	69				
DBF4	10926	broad.mit.edu	37	7	87530130	87530130	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:87530130G>A	ENST00000265728.1	+	10	1365	c.861G>A	c.(859-861)ttG>ttA	p.L287L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	287					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L287L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACTCCAGTTGAAAGAGAAGA	0.353																																							uc003ujf.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(859-861)TTG>TTA		activator of S phase kinase							137.0	153.0	148.0					7																	87530130		2203	4299	6502	SO:0001819	synonymous_variant	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87530130G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.861G>A	7.37:g.87530130G>A						DBF4_uc003ujh.1_Silent_p.L27L|DBF4_uc003ujg.1_Silent_p.L63L|DBF4_uc011khf.1_Silent_p.L54L	p.L287L	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			10	1365	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	287					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	ENST00000265728.1	37	c.861G>A	CCDS5611.1																																																																																				0.353	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		28	77	0	0	0	0.010818	0	28	77				
DBF4	10926	broad.mit.edu	37	7	87537065	87537065	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:87537065A>G	ENST00000265728.1	+	12	2116	c.1612A>G	c.(1612-1614)Agt>Ggt	p.S538G		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	538					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S538G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AACAATAAACAGTTCACAAGA	0.393																																							uc003ujf.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1612-1614)AGT>GGT		activator of S phase kinase							78.0	79.0	79.0					7																	87537065		2203	4298	6501	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87537065A>G	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1612A>G	7.37:g.87537065A>G	ENSP00000265728:p.Ser538Gly					DBF4_uc003ujh.1_Missense_Mutation_p.S278G|DBF4_uc003ujg.1_Missense_Mutation_p.S314G|DBF4_uc011khf.1_Missense_Mutation_p.S305G	p.S538G	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	2116	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	538					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1612A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770628	0.31320	.	.	ENSG00000006634	ENST00000265728	T	0.33654	1.4	5.45	3.05	0.35203	.	0.654660	0.15424	N	0.263100	T	0.24314	0.0589	L	0.56769	1.78	0.09310	N	1	P;B	0.44734	0.842;0.435	B;B	0.33750	0.169;0.078	T	0.16867	-1.0388	10	0.24483	T	0.36	-1.344	3.1845	0.06596	0.6354:0.1549:0.0781:0.1316	.	314;538	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	G	538	ENSP00000265728:S538G	ENSP00000265728:S538G	S	+	1	0	DBF4	87375001	0.690000	0.27699	0.705000	0.30386	0.994000	0.84299	1.203000	0.32284	0.360000	0.24265	0.528000	0.53228	AGT		0.393	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		20	55	0	0	0	0.00278	0	20	55				
SAMD9L	219285	broad.mit.edu	37	7	92762522	92762522	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:92762522G>A	ENST00000318238.4	-	5	3979	c.2763C>T	c.(2761-2763)ctC>ctT	p.L921L	SAMD9L_ENST00000411955.1_Silent_p.L921L|SAMD9L_ENST00000437805.1_Silent_p.L921L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	921					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L921L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAAGGAAATGAGTTGTGCTT	0.358																																							uc003umh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2761-2763)CTC>CTT		sterile alpha motif domain containing 9-like							103.0	99.0	100.0					7																	92762522		2203	4299	6502	SO:0001819	synonymous_variant	219285							g.chr7:92762522G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2763C>T	7.37:g.92762522G>A						SAMD9L_uc003umj.1_Silent_p.L921L|SAMD9L_uc003umi.1_Silent_p.L921L|SAMD9L_uc010lfb.1_Silent_p.L921L|SAMD9L_uc003umk.1_Silent_p.L921L|SAMD9L_uc010lfc.1_Silent_p.L921L|SAMD9L_uc010lfd.1_Silent_p.L921L|SAMD9L_uc011khx.1_Intron	p.L921L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3979	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		921					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2763C>T	CCDS34681.1																																																																																				0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		17	20	0	0	0	0.007413	0	17	20				
COL1A2	1278	broad.mit.edu	37	7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	rs72658196		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:94052404G>A	ENST00000297268.6	+	40	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	847			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G847S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CM070816	COL1A2	M	rs72658196	c.(2539-2541)GGT>AGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						128.0	120.0	123.0					7																	94052404		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052404G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2539G>A	7.37:g.94052404G>A	ENSP00000297268:p.Gly847Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.G847S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3010	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		847		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2539G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740412	0.89573	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99607	-6.27	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96766	0.9565	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	847	P08123	CO1A2_HUMAN	S	847;848	ENSP00000297268:G847S	ENSP00000297268:G847S	G	+	1	0	COL1A2	93890340	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.869000	0.99810	2.614000	0.88457	0.563000	0.77884	GGT		0.502	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		13	55	0	0	0	0.00245	0	13	55				
PEG10	23089	broad.mit.edu	37	7	94292998	94292998	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:94292998C>A	ENST00000482108.1	+	2	609	c.130C>A	c.(130-132)Ctt>Att	p.L44I	PEG10_ENST00000488574.1_Missense_Mutation_p.L44I	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	44					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L44I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAACACCACCCTTCGAGAGCA	0.552																																							uc011kie.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(358-360)CTT>ATT		paternally expressed 10 isoform RF1							52.0	65.0	60.0					7																	94292998		2115	4234	6349	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94292998C>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.130C>A	7.37:g.94292998C>A	ENSP00000417587:p.Leu44Ile						p.L120I	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	575	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		44			Potential.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.358C>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655769	0.47467	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14893	2.47;2.47	4.35	4.35	0.52113	.	.	.	.	.	T	0.23806	0.0576	L	0.32530	0.975	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.54629	0.757;0.757	T	0.04885	-1.0920	9	0.51188	T	0.08	.	12.5962	0.56470	0.0:1.0:0.0:0.0	.	120;44	B4DSP0;Q86TG7	.;PEG10_HUMAN	I	44	ENSP00000417587:L44I;ENSP00000418944:L44I	ENSP00000417587:L44I	L	+	1	0	PEG10	94130934	0.057000	0.20700	0.051000	0.19133	0.972000	0.66771	1.409000	0.34680	2.439000	0.82584	0.555000	0.69702	CTT		0.552	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		5	7	1	0	0.000602214	0.000602	0.000654948	5	7				
AZGP1P1	646282	broad.mit.edu	37	7	99580803	99580803	+	RNA	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:99580803C>A	ENST00000425474.1	+	0	124					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		ACTGGGCTGTCCAGGTCTGGC	0.557																																							uc003usi.2		NA																	0					NA						c.(112-114)TCC>TAC		RecName: Full=Putative zinc-alpha-2-glycoprotein-like 2; Flags: Precursor;																																						0							g.chr7:99580803C>A	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580803C>A							p.S38Y							2	124	+									Missense_Mutation	SNP	ENST00000425474.1	37	c.113C>A																																																																																					0.557	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	4	1	0	5.18039e-06	0.00308	6.02439e-06	7	4				
LAMTOR4	389541	broad.mit.edu	37	7	99746545	99746545	+	5'UTR	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:99746545A>T	ENST00000341942.5	+	0	16				LAMTOR4_ENST00000441173.1_5'Flank	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											CGGGGCCTGAAGCCGGAAGCT	0.652																																							uc003utq.2		NA																	0					0						c.(-52--48)GAAGC>GATGC		hypothetical protein LOC389541							66.0	66.0	66.0					7																	99746545		2203	4300	6503	SO:0001623	5_prime_UTR_variant	389541							g.chr7:99746545A>T		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.-51A>T	7.37:g.99746545A>T								NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN			1	16	+									Translation_Start_Site	SNP	ENST00000341942.5	37	c.-50A>T	CCDS34702.1																																																																																				0.652	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		14	30	0	0	0	0.003163	0	14	30				
TFR2	7036	broad.mit.edu	37	7	100225567	100225567	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:100225567G>T	ENST00000462107.1	-	14	1855	c.1568C>A	c.(1567-1569)cCc>cAc	p.P523H	TFR2_ENST00000223051.3_Missense_Mutation_p.P523H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Missense_Mutation_p.P64H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	523					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)	p.P523H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TGTCAGAAGGGGGCTGGTCTT	0.607																																							uc003uvv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1567-1569)CCC>CAC		transferrin receptor 2							98.0	93.0	95.0					7																	100225567		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100225567G>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1568C>A	7.37:g.100225567G>T	ENSP00000420525:p.Pro523His					TFR2_uc010lhc.1_Missense_Mutation_p.P64H|TFR2_uc003uvu.1_Missense_Mutation_p.P352H	p.P523H	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN			13	1609	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		523			Extracellular (Potential).		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.1568C>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006306	0.74932	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.52983	0.64;0.64;0.64	4.83	4.83	0.62350	Peptidase M28 (1);	0.122675	0.56097	D	0.000030	T	0.70622	0.3245	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75614	-0.3257	10	0.87932	D	0	-30.5716	13.288	0.60253	0.0:0.0:1.0:0.0	.	523	Q9UP52	TFR2_HUMAN	H	523;523;64	ENSP00000223051:P523H;ENSP00000420525:P523H;ENSP00000443656:P64H	ENSP00000223051:P523H	P	-	2	0	TFR2	100063503	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.023000	0.76437	2.515000	0.84797	0.462000	0.41574	CCC		0.607	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		36	33	1	0	2.40579e-17	0.00623	3.78227e-17	36	33				
RELN	5649	broad.mit.edu	37	7	103234901	103234902	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103234901_103234902GG>TT	ENST00000428762.1	-	26	3736_3737	c.3577_3578CC>AA	c.(3577-3579)CCt>AAt	p.P1193N	RELN_ENST00000424685.2_Missense_Mutation_p.P1193N|RELN_ENST00000343529.5_Missense_Mutation_p.P1193N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1193					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P1193N(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGGTGCAAGGGGTCTTGGCA	0.48																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3577-3579)CCT>AAT		reelin isoform a																																				SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234901_103234902GG>TT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3577_3578delinsTT	7.37:g.103234901_103234902delinsTT	ENSP00000392423:p.Pro1193Asn					RELN_uc010liz.2_Missense_Mutation_p.P1193N	p.P1193N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3737_3738	-			1193					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	DNP	ENST00000428762.1	37	c.3577_3578CC>AA	CCDS47680.1																																																																																				0.480	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		32	117	0	0	0	0.004672	0	32	117				
RELN	5649	broad.mit.edu	37	7	103292158	103292158	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103292158A>T	ENST00000428762.1	-	15	2001	c.1842T>A	c.(1840-1842)gcT>gcA	p.A614A	RELN_ENST00000424685.2_Silent_p.A614A|RELN_ENST00000343529.5_Silent_p.A614A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	614					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A614A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGGGGTCCAGCACAGATCT	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1840-1842)GCT>GCA		reelin isoform a							80.0	67.0	71.0					7																	103292158		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103292158A>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1842T>A	7.37:g.103292158A>T						RELN_uc010liz.2_Silent_p.A614A	p.A614A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	15	2002	-			614					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1842T>A	CCDS47680.1																																																																																				0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	35	0	0	0	0.001984	0	7	35				
RELN	5649	broad.mit.edu	37	7	103292171	103292171	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103292171G>C	ENST00000428762.1	-	15	1988	c.1829C>G	c.(1828-1830)cCt>cGt	p.P610R	RELN_ENST00000424685.2_Missense_Mutation_p.P610R|RELN_ENST00000343529.5_Missense_Mutation_p.P610R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	610					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P610R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGATCTCAGGTAAGCATTC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1828-1830)CCT>CGT		reelin isoform a							81.0	66.0	71.0					7																	103292171		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103292171G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1829C>G	7.37:g.103292171G>C	ENSP00000392423:p.Pro610Arg					RELN_uc010liz.2_Missense_Mutation_p.P610R	p.P610R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	15	1989	-			610					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1829C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613743	0.87359	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28666	1.6;1.6;1.6	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.62525	-0.6836	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	610;610	P78509-2;P78509	.;RELN_HUMAN	R	610	ENSP00000392423:P610R;ENSP00000345694:P610R;ENSP00000388446:P610R	ENSP00000345694:P610R	P	-	2	0	RELN	103079407	1.000000	0.71417	0.999000	0.59377	0.807000	0.45602	9.476000	0.97823	2.758000	0.94735	0.563000	0.77884	CCT		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	34	0	0	0	0.001168	0	6	34				
RELN	5649	broad.mit.edu	37	7	103322703	103322703	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103322703G>T	ENST00000428762.1	-	11	1308	c.1149C>A	c.(1147-1149)agC>agA	p.S383R	RELN_ENST00000424685.2_Missense_Mutation_p.S383R|RELN_ENST00000343529.5_Missense_Mutation_p.S383R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	383					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S383R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGACTGACAGCTATGCTGTA	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1147-1149)AGC>AGA		reelin isoform a							106.0	106.0	106.0					7																	103322703		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322703G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1149C>A	7.37:g.103322703G>T	ENSP00000392423:p.Ser383Arg					RELN_uc010liz.2_Missense_Mutation_p.S383R	p.S383R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1309	-			383					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1149C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096642	0.56075	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.73	5.73	0.89815	.	0.090405	0.85682	D	0.000000	T	0.30135	0.0755	N	0.14661	0.345	0.53005	D	0.999965	D;P	0.60160	0.987;0.838	P;B	0.55391	0.775;0.446	T	0.02885	-1.1098	10	0.32370	T	0.25	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	383;383	P78509-2;P78509	.;RELN_HUMAN	R	383	ENSP00000392423:S383R;ENSP00000345694:S383R;ENSP00000388446:S383R	ENSP00000345694:S383R	S	-	3	2	RELN	103109939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.596000	0.90844	2.861000	0.98227	0.655000	0.94253	AGC		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		17	58	1	0	3.99206e-14	0.007413	5.84686e-14	17	58				
ORC5	5001	broad.mit.edu	37	7	103838232	103838232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:103838232C>A	ENST00000297431.4	-	4	524	c.382G>T	c.(382-384)Gag>Tag	p.E128*	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Nonsense_Mutation_p.E128*	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	128					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.E128*(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTAGATACTCTGCTTTATCT	0.323																																							uc003vcb.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(382-384)GAG>TAG		origin recognition complex subunit 5 isoform 1							51.0	52.0	52.0					7																	103838232		2201	4295	6496	SO:0001587	stop_gained	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103838232C>A		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.382G>T	7.37:g.103838232C>A	ENSP00000297431:p.Glu128*					ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Nonsense_Mutation_p.E128*|ORC5L_uc003vcd.2_Nonsense_Mutation_p.E128*	p.E128*	NM_002553	NP_002544	O43913	ORC5_HUMAN			4	493	-			128					A4D0P8|O60590|O95268	Nonsense_Mutation	SNP	ENST00000297431.4	37	c.382G>T	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	40	7.998520	0.98602	.	.	ENSG00000164815	ENST00000297431;ENST00000447452	.	.	.	5.56	5.56	0.83823	.	0.090520	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5295	0.95223	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000297431:E128X	E	-	1	0	ORC5	103625468	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.153000	0.71819	2.628000	0.89032	0.455000	0.32223	GAG		0.323	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		20	16	1	0	2.39556e-15	0.00278	3.6284e-15	20	16				
LAMB4	22798	broad.mit.edu	37	7	107696229	107696229	+	Silent	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:107696229A>G	ENST00000388781.3	-	25	3686	c.3603T>C	c.(3601-3603)gcT>gcC	p.A1201A	LAMB4_ENST00000388780.3_Silent_p.A1201A|LAMB4_ENST00000205386.4_Silent_p.A1201A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1201	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1201A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTCCATGTTAGCAGCCAGTC	0.458																																							uc010ljo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3601-3603)GCT>GCC		laminin, beta 4 precursor							75.0	73.0	74.0					7																	107696229		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107696229A>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3603T>C	7.37:g.107696229A>G						LAMB4_uc003vey.2_Silent_p.A1201A|LAMB4_uc010ljp.1_Silent_p.A170A	p.A1201A	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			25	3687	-			1201			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3603T>C	CCDS34732.1																																																																																				0.458	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		13	43	0	0	0	0.00245	0	13	43				
THAP5	168451	broad.mit.edu	37	7	108205269	108205269	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:108205269T>A	ENST00000415914.3	-	3	707	c.554A>T	c.(553-555)aAc>aTc	p.N185I	THAP5_ENST00000313516.5_Missense_Mutation_p.N143I|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	185					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.N23I(1)|p.N185I(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TGTATCTTGGTTAACTGATGT	0.333																																							uc003vfm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(553-555)AAC>ATC		THAP domain containing 5 isoform 1							56.0	54.0	55.0					7																	108205269		2202	4300	6502	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108205269T>A	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.554A>T	7.37:g.108205269T>A	ENSP00000400500:p.Asn185Ile					THAP5_uc003vfl.2_Missense_Mutation_p.N143I	p.N185I	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN			3	708	-			185						Missense_Mutation	SNP	ENST00000415914.3	37	c.554A>T	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	T	1.721	-0.496561	0.04291	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96522	-4.04;-2.55	4.41	-0.554	0.11811	.	1.504550	0.04716	N	0.418424	D	0.89259	0.6664	N	0.14661	0.345	0.21220	N	0.999756	B	0.06786	0.001	B	0.06405	0.002	T	0.79852	-0.1628	9	.	.	.	.	1.8777	0.03222	0.2146:0.0989:0.122:0.5645	.	185	Q7Z6K1	THAP5_HUMAN	I	185;143	ENSP00000400500:N185I;ENSP00000322440:N143I	.	N	-	2	0	THAP5	107992505	0.998000	0.40836	0.063000	0.19743	0.335000	0.28730	1.138000	0.31491	0.167000	0.19631	0.477000	0.44152	AAC		0.333	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		11	28	0	0	0	0.001368	0	11	28				
CTTNBP2	83992	broad.mit.edu	37	7	117432001	117432001	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:117432001G>T	ENST00000160373.3	-	4	1340	c.1249C>A	c.(1249-1251)Cct>Act	p.P417T	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	417	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P417T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTTCTGAGGAGCTATGCCT	0.527																																							uc003vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1249-1251)CCT>ACT		cortactin binding protein 2							213.0	190.0	198.0					7																	117432001		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432001G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1249C>A	7.37:g.117432001G>T	ENSP00000160373:p.Pro417Thr						p.P417T	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1341	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		417			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1249C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.402675	0.00195	.	.	ENSG00000077063	ENST00000160373	T	0.70282	-0.47	4.31	-2.85	0.05734	.	0.585291	0.16215	N	0.224294	T	0.44891	0.1315	N	0.16478	0.41	0.22342	N	0.999189	B	0.02656	0.0	B	0.06405	0.002	T	0.17501	-1.0367	10	0.27082	T	0.32	0.0517	5.3329	0.15942	0.1486:0.5185:0.2277:0.1052	.	417	Q8WZ74	CTTB2_HUMAN	T	417	ENSP00000160373:P417T	ENSP00000160373:P417T	P	-	1	0	CTTNBP2	117219237	0.249000	0.23941	0.025000	0.17156	0.011000	0.07611	0.259000	0.18405	-0.490000	0.06707	0.460000	0.39030	CCT		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		55	61	1	0	1.48341e-19	0.00361	2.4697e-19	55	61				
GPR37	2861	broad.mit.edu	37	7	124404849	124404849	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:124404849T>A	ENST00000303921.2	-	1	832	c.182A>T	c.(181-183)aAt>aTt	p.N61I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	61					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.N61I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTTGCAGAATTTCCCGGTCC	0.687																																							uc003vli.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(181-183)AAT>ATT		G protein-coupled receptor 37 precursor							25.0	28.0	27.0					7																	124404849		2203	4299	6502	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404849T>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.182A>T	7.37:g.124404849T>A	ENSP00000306449:p.Asn61Ile						p.N61I	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	833	-			61			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.182A>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	8.211	0.800254	0.16397	.	.	ENSG00000170775	ENST00000303921	T	0.07021	3.23	5.55	-1.16	0.09678	.	1.113020	0.06609	N	0.755317	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	10	0.87932	D	0	-0.114	0.4317	0.00472	0.2799:0.1572:0.1454:0.4174	.	61	O15354	GPR37_HUMAN	I	61	ENSP00000306449:N61I	ENSP00000306449:N61I	N	-	2	0	GPR37	124192085	0.000000	0.05858	0.010000	0.14722	0.033000	0.12548	-0.543000	0.06084	-0.324000	0.08589	-0.250000	0.11733	AAT		0.687	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		21	14	0	0	0	0.012319	0	21	14				
LRGUK	136332	broad.mit.edu	37	7	133881855	133881855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:133881855G>T	ENST00000285928.2	+	13	1612	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	515	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.E515*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TATGGAAATAGAAGTAAGTGT	0.348																																							uc003vrm.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(1543-1545)GAA>TAA		leucine-rich repeats and guanylate kinase domain							142.0	132.0	135.0					7																	133881855		2203	4300	6503	SO:0001587	stop_gained	136332						ATP binding|kinase activity	g.chr7:133881855G>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1543G>T	7.37:g.133881855G>T	ENSP00000285928:p.Glu515*						p.E515*	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			13	1559	+			515			Guanylate kinase-like.		Q2M3I1	Nonsense_Mutation	SNP	ENST00000285928.2	37	c.1543G>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694898	0.98438	.	.	ENSG00000155530	ENST00000285928	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.6148	19.5771	0.95449	0.0:0.0:1.0:0.0	.	.	.	.	X	515	.	ENSP00000285928:E515X	E	+	1	0	LRGUK	133532395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.231000	0.78106	2.798000	0.96311	0.650000	0.86243	GAA		0.348	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		10	39	1	0	1.58986e-06	0.008291	1.88777e-06	10	39				
DGKI	9162	broad.mit.edu	37	7	137263069	137263069	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:137263069C>A	ENST00000288490.5	-	16	1645	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	DGKI_ENST00000446122.1_Missense_Mutation_p.A549S|DGKI_ENST00000424189.2_Missense_Mutation_p.A549S|DGKI_ENST00000453654.2_Missense_Mutation_p.A249S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	549					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A549S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTGGATTTGCTTCTGTGAAA	0.378																																							uc003vtt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1645-1647)GCA>TCA		diacylglycerol kinase, iota							67.0	68.0	68.0					7																	137263069		2202	4299	6501	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137263069C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1645G>T	7.37:g.137263069C>A	ENSP00000288490:p.Ala549Ser					DGKI_uc003vtu.2_Missense_Mutation_p.A249S	p.A549S	NM_004717	NP_004708	O75912	DGKI_HUMAN			16	1646	-			549					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1645G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030963	0.93575	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.29917	1.55;1.55;1.55	5.15	5.15	0.70609	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.43646	1.37	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.73380	0.941;0.98	T	0.40021	-0.9585	10	0.46703	T	0.11	.	18.6041	0.91261	0.0:1.0:0.0:0.0	.	249;549	E9PFX6;O75912	.;DGKI_HUMAN	S	249;497;549;549;549	ENSP00000392161:A249S;ENSP00000288490:A549S;ENSP00000399131:A549S	ENSP00000288490:A549S	A	-	1	0	DGKI	136913609	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.621000	0.83083	2.573000	0.86826	0.462000	0.41574	GCA		0.378	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		6	37	1	0	0.00198382	0.001984	0.00210951	6	37				
OR9A4	130075	broad.mit.edu	37	7	141619191	141619191	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:141619191T>C	ENST00000548136.1	+	1	575	c.516T>C	c.(514-516)aaT>aaC	p.N172N	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N172N(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCAAATCAAATGTGGTGAACA	0.393																																							uc003vwu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(514-516)AAT>AAC		olfactory receptor, family 9, subfamily A,							153.0	153.0	153.0					7																	141619191		2076	4247	6323	SO:0001819	synonymous_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619191T>C		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.516T>C	7.37:g.141619191T>C							p.N172N	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	516	+	Melanoma(164;0.0171)		172			Extracellular (Potential).		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.516T>C	CCDS43661.1																																																																																				0.393	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		39	88	0	0	0	0.006999	0	39	88				
FAM131B	9715	broad.mit.edu	37	7	143054044	143054044	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:143054044A>G	ENST00000409408.1	-	6	2306	c.598T>C	c.(598-600)Tcg>Ccg	p.S200P	FAM131B_ENST00000409346.1_Missense_Mutation_p.S200P|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228P|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216P|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200P			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200								p.S200P(1)|p.S228P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCATCTGACGACCCCAGACAG	0.557																																							uc003wct.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(598-600)TCG>CCG		hypothetical protein LOC9715 isoform b							60.0	54.0	56.0					7																	143054044		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143054044A>G	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.598T>C	7.37:g.143054044A>G	ENSP00000387017:p.Ser200Pro					FAM131B_uc010loz.2_Missense_Mutation_p.S168P|FAM131B_uc003wcu.3_Missense_Mutation_p.S200P|FAM131B_uc010lpa.2_Missense_Mutation_p.S228P	p.S200P	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2304	-	Melanoma(164;0.205)		200					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.598T>C	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153323	0.78114	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.919	T	0.35025	-0.9805	10	0.32370	T	0.25	-32.733	15.5417	0.76057	1.0:0.0:0.0:0.0	.	216;200	Q86XD5-2;Q86XD5	.;F131B_HUMAN	P	228;216;200;204;200;200	ENSP00000410603:S228P;ENSP00000386568:S216P;ENSP00000386984:S200P;ENSP00000387017:S200P;ENSP00000387147:S200P	ENSP00000387147:S200P	S	-	1	0	FAM131B	142764166	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	7.035000	0.76517	2.072000	0.62099	0.533000	0.62120	TCG		0.557	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		5	30	0	0	0	0.001168	0	5	30				
FAM131B	9715	broad.mit.edu	37	7	143057165	143057165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:143057165G>T	ENST00000409408.1	-	1	1730	c.22C>A	c.(22-24)Cac>Aac	p.H8N	FAM131B_ENST00000409346.1_Missense_Mutation_p.H8N|FAM131B_ENST00000443739.2_Missense_Mutation_p.H36N|FAM131B_ENST00000409578.1_Missense_Mutation_p.H36N|FAM131B_ENST00000409222.3_Missense_Mutation_p.H8N			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	8								p.H8N(1)|p.H36N(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CTGCTCCCGTGCAGTGAGCTG	0.572																																							uc003wct.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(22-24)CAC>AAC		hypothetical protein LOC9715 isoform b							119.0	94.0	102.0					7																	143057165		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143057165G>T	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.22C>A	7.37:g.143057165G>T	ENSP00000387017:p.His8Asn					FAM131B_uc010loz.2_5'Flank|FAM131B_uc003wcu.3_Missense_Mutation_p.H8N|FAM131B_uc010lpa.2_Missense_Mutation_p.H36N|ZYX_uc011ktd.1_5'Flank	p.H8N	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			1	1728	-	Melanoma(164;0.205)		8					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.22C>A	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145005	0.37825	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000409408;ENST00000409222	T;T;T;T;T	0.24151	2.24;1.87;1.9;1.9;1.9	4.73	4.73	0.59995	.	0.450751	0.22244	N	0.062656	T	0.19046	0.0457	N	0.16478	0.41	0.43564	D	0.995882	B;B	0.21606	0.058;0.058	B;B	0.19391	0.025;0.015	T	0.05099	-1.0906	10	0.54805	T	0.06	-15.7636	16.2884	0.82736	0.0:0.0:1.0:0.0	.	36;8	Q86XD5-2;Q86XD5	.;F131B_HUMAN	N	36;36;8;8;8	ENSP00000410603:H36N;ENSP00000386568:H36N;ENSP00000386984:H8N;ENSP00000387017:H8N;ENSP00000387147:H8N	ENSP00000387147:H8N	H	-	1	0	FAM131B	142767287	1.000000	0.71417	0.991000	0.47740	0.923000	0.55619	6.324000	0.72896	2.338000	0.79540	0.655000	0.94253	CAC		0.572	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		6	13	1	0	5.18039e-06	0.00308	6.02439e-06	6	13				
AGAP3	116988	broad.mit.edu	37	7	150839674	150839674	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:150839674G>C	ENST00000463381.1	+	14	1729	c.1233G>C	c.(1231-1233)tgG>tgC	p.W411C	AGAP3_ENST00000397238.2_Missense_Mutation_p.W742C	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	706	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.W742C(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACAGCGTCTGGGAGGGGGCCT	0.662																																							uc003wjg.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2224-2226)TGG>TGC		centaurin, gamma 3 isoform a							35.0	39.0	38.0					7																	150839674		2048	4201	6249	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839674G>C	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1233G>C	7.37:g.150839674G>C	ENSP00000418016:p.Trp411Cys					AGAP3_uc003wje.1_Missense_Mutation_p.W411C|AGAP3_uc003wjj.1_Missense_Mutation_p.W241C|AGAP3_uc003wjk.1_Missense_Mutation_p.W160C	p.W742C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2229	+			706			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2226G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.88|19.88	3.909229|3.909229	0.72868|0.72868	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.49432	.|0.78;0.78	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79458|0.79458	0.4449|0.4449	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.998;0.996;0.998	D|D	0.86464|0.86464	0.1781|0.1781	5|10	.|0.87932	.|D	.|0	.|.	17.7926|17.7926	0.88558|0.88558	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|706;241;742;411	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	A|C	235|411;241;742;706	.|ENSP00000418016:W411C;ENSP00000380413:W742C	.|ENSP00000334157:W706C	G|W	+|+	2|3	0|0	AGAP3|AGAP3	150470607|150470607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	9.686000|9.686000	0.98664|0.98664	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.662	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		13	16	0	0	0	0.001855	0	13	16				
CSMD1	64478	broad.mit.edu	37	8	3265713	3265713	+	Silent	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:3265713C>T	ENST00000520002.1	-	15	2337	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	CSMD1_ENST00000602557.1_Silent_p.G594G|CSMD1_ENST00000537824.1_Silent_p.G593G|CSMD1_ENST00000400186.3_Silent_p.G594G|CSMD1_ENST00000602723.1_Silent_p.G594G|CSMD1_ENST00000542608.1_Silent_p.G593G|CSMD1_ENST00000539096.1_Silent_p.G593G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	594	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G322G(1)|p.G593G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGAATAATCCCAGATGATG	0.373																																							uc011kwk.1		NA																	2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(1780-1782)GGG>GGA		CUB and Sushi multiple domains 1 precursor							28.0	24.0	26.0					8																	3265713		1861	4124	5985	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3265713C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1782G>A	8.37:g.3265713C>T						CSMD1_uc011kwj.1_5'UTR	p.G594G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2172	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	594			Extracellular (Potential).|CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1782G>A		.	.	.	.	.	.	.	.	.	.	C	7.488	0.650159	0.14516	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.23	-5.51	0.02568	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41592	-0.9500	4	.	.	.	.	3.1854	0.06599	0.0958:0.2092:0.3807:0.3143	.	.	.	.	N	74	.	.	D	-	1	0	CSMD1	3253120	0.003000	0.15002	0.009000	0.14445	0.956000	0.61745	-1.387000	0.02535	-0.686000	0.05170	-0.373000	0.07131	GAT		0.373	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	9	0	0	0	0.00308	0	5	9				
SPAG11A	653423	broad.mit.edu	37	8	7718286	7718286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:7718286G>T	ENST00000326625.5	+	2	227	c.174G>T	c.(172-174)agG>agT	p.R58S	SPAG11A_ENST00000454911.2_3'UTR|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000326558.5_Intron			Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	0						extracellular region (GO:0005576)				central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTGGAATAGGTGTTGCGTAT	0.438																																							uc003wrx.2		NA																	0					0						c.(463-465)AGG>AGT		sperm associated antigen 11A							59.0	37.0	45.0					8																	7718286		2117	4083	6200	SO:0001583	missense	653423					extracellular region		g.chr8:7718286G>T		CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"""epididymal protein 2A"""						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000326625.5:c.174G>T	8.37:g.7718286G>T	ENSP00000316648:p.Arg58Ser					SPAG11A_uc003wry.2_3'UTR|SPAG11A_uc003wrz.2_Intron|SPAG11A_uc003wsa.2_Intron|SPAG11A_uc003wsb.2_Intron	p.R155S	NM_001081552	NP_001075021	Q6PDA7	SG11A_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	500	+			Error:Variant_position_missing_in_Q6PDA7_after_alignment					A6NIY0|E9PAK7	Missense_Mutation	SNP	ENST00000326625.5	37	c.465G>T		.	.	.	.	.	.	.	.	.	.	G	13.70	2.316101	0.40996	.	.	ENSG00000178287	ENST00000326625	T	0.23147	1.92	2.28	0.691	0.18045	.	.	.	.	.	T	0.41949	0.1181	.	.	.	0.21604	N	0.999621	D	0.69078	0.997	D	0.83275	0.996	T	0.18366	-1.0339	8	0.87932	D	0	-15.128	3.7699	0.08637	0.3889:0.0:0.6111:0.0	.	111	C9JN37	.	S	58	ENSP00000316648:R58S	ENSP00000316648:R58S	R	+	3	2	SPAG11A	7755696	1.000000	0.71417	0.996000	0.52242	0.623000	0.37688	1.114000	0.31196	0.152000	0.19188	0.400000	0.26472	AGG		0.438	SPAG11A-005	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000383802.1	NM_001081552		7	30	1	0	1.12685e-05	0.004482	1.2911e-05	7	30				
RP1L1	94137	broad.mit.edu	37	8	10480505	10480505	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:10480505G>T	ENST00000382483.3	-	2	430	c.207C>A	c.(205-207)tcC>tcA	p.S69S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	69	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.S69S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACGCGCTGGGAGAGCTCGT	0.652																																							uc003wtc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(205-207)TCC>TCA		retinitis pigmentosa 1-like 1							31.0	38.0	36.0					8																	10480505		2101	4200	6301	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10480505G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.207C>A	8.37:g.10480505G>T							p.S69S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	436	-			69					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.207C>A	CCDS43708.1																																																																																				0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	12	1	0	3.59834e-05	0.001168	4.05547e-05	6	12				
EPHX2	2053	broad.mit.edu	37	8	27364421	27364421	+	Silent	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:27364421G>T	ENST00000521400.1	+	5	1000	c.570G>T	c.(568-570)ctG>ctT	p.L190L	EPHX2_ENST00000380476.3_Silent_p.L137L|EPHX2_ENST00000518379.1_Silent_p.L190L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Silent_p.L124L|EPHX2_ENST00000517536.1_Intron	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	190	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.L190L(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GGGCTAATCTGAAGCCAGCCC	0.498																																							uc003xfu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(568-570)CTG>CTT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						89.0	92.0	91.0					8																	27364421		2203	4300	6503	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27364421G>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.570G>T	8.37:g.27364421G>T						EPHX2_uc010lut.1_Silent_p.L190L|EPHX2_uc010luu.2_Silent_p.L190L|EPHX2_uc010luv.2_Silent_p.L124L|EPHX2_uc003xfv.2_Silent_p.L137L|EPHX2_uc010luw.2_Silent_p.L124L|EPHX2_uc011lam.1_Silent_p.L46L	p.L190L	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	5	651	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	190			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.570G>T	CCDS6060.1																																																																																				0.498	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			19	29	1	0	9.7654e-05	0.007413	0.000108875	19	29				
KCNU1	157855	broad.mit.edu	37	8	36793073	36793073	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:36793073C>A	ENST00000399881.3	+	27	3122	c.3085C>A	c.(3085-3087)Cct>Act	p.P1029T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1029					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P1029T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAAGCTGCTGCCTTCAGATCT	0.438																																							uc010lvw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3085-3087)CCT>ACT		potassium channel, subfamily U, member 1							128.0	123.0	125.0					8																	36793073		1933	4150	6083	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793073C>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3085C>A	8.37:g.36793073C>A	ENSP00000382770:p.Pro1029Thr						p.P1029T	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3172	+			1029			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.3085C>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	5.079	0.200216	0.09652	.	.	ENSG00000215262	ENST00000399881	T	0.34275	1.37	5.61	0.245	0.15512	.	0.211619	0.22932	U	0.053892	T	0.31451	0.0797	L	0.60455	1.87	0.09310	N	0.999996	P	0.49635	0.926	P	0.44597	0.454	T	0.18524	-1.0334	10	0.59425	D	0.04	-4.4111	5.0696	0.14600	0.0:0.4724:0.2854:0.2422	.	1029	A8MYU2	KCNU1_HUMAN	T	1029	ENSP00000382770:P1029T	ENSP00000382770:P1029T	P	+	1	0	KCNU1	36912231	0.000000	0.05858	0.014000	0.15608	0.024000	0.10985	-0.353000	0.07691	0.091000	0.17302	0.655000	0.94253	CCT		0.438	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		56	58	1	0	2.40265e-35	0.00361	4.45387e-35	56	58				
FGFR1	2260	broad.mit.edu	37	8	38274924	38274924	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:38274924T>C	ENST00000447712.2	-	12	2504	c.1563A>G	c.(1561-1563)acA>acG	p.T521T	FGFR1_ENST00000397113.2_Silent_p.T519T|FGFR1_ENST00000397091.5_Silent_p.T519T|FGFR1_ENST00000397103.1_Silent_p.T432T|FGFR1_ENST00000397108.4_Silent_p.T519T|FGFR1_ENST00000425967.3_Silent_p.T552T|FGFR1_ENST00000341462.5_Silent_p.T521T|FGFR1_ENST00000326324.6_Silent_p.T430T|FGFR1_ENST00000356207.5_Silent_p.T432T|FGFR1_ENST00000532791.1_Silent_p.T519T|FGFR1_ENST00000335922.5_Silent_p.T511T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.T521T(3)|p.T511T(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTCTTTCTCTGTTGCGTCCG	0.502		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		4	Substitution - coding silent(4)		lung(4)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(1561-1563)ACA>ACG		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						74.0	78.0	77.0					8																	38274924		2155	4286	6441	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274924T>C	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1563A>G	8.37:g.38274924T>C						FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.T519T|FGFR1_uc011lbp.1_Silent_p.T432T|FGFR1_uc011lbq.1_Silent_p.T430T|FGFR1_uc010lwk.2_Silent_p.T511T	p.T521T	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		13	2505	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	521			Cytoplasmic (Potential).|Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.1563A>G	CCDS6107.2																																																																																				0.502	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				66	26	0	0	0	0.00361	0	66	26				
CLVS1	157807	broad.mit.edu	37	8	62212569	62212569	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:62212569C>G	ENST00000519846.1	+	3	655	c.183C>G	c.(181-183)atC>atG	p.I61M	RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.I61M|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	61					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.I61M(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACATGATCATCACCAGGCCTG	0.473																																							uc003xuh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(181-183)ATC>ATG		retinaldehyde binding protein 1-like 1							130.0	110.0	117.0					8																	62212569		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212569C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.183C>G	8.37:g.62212569C>G	ENSP00000428402:p.Ile61Met					CLVS1_uc003xug.2_Missense_Mutation_p.I61M|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.I61M	p.I61M	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	507	+			61					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.183C>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279322	0.59758	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.85955	-2.05;-2.05	5.79	4.91	0.64330	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.155351	0.56097	D	0.000029	D	0.87002	0.6069	L	0.29908	0.895	0.47245	D	0.99936	D;P;D	0.76494	0.999;0.865;0.961	D;P;P	0.66351	0.943;0.738;0.735	D	0.85975	0.1479	10	0.32370	T	0.25	-4.7835	16.3381	0.83073	0.133:0.867:0.0:0.0	.	61;61;61	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	M	61	ENSP00000428402:I61M;ENSP00000325506:I61M	ENSP00000325506:I61M	I	+	3	3	CLVS1	62375123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.081000	0.41596	1.448000	0.47680	0.655000	0.94253	ATC		0.473	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		26	60	0	0	0	0.003954	0	26	60				
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	A	rs377233329		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:66992626C>A	ENST00000276570.5	+	5	635	c.348C>A	c.(346-348)atC>atA	p.I116I	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	116						membrane (GO:0016020)		p.I116I(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.557																																							uc003xvs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)ATC>ATA		DnaJ (Hsp40) homolog, subfamily C, member 5							139.0	131.0	134.0					8																	66992626		2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66992626C>A	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.348C>A	8.37:g.66992626C>A						DNAJC5B_uc003xvt.1_RNA	p.I116I	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		5	639	+		Lung NSC(129;0.114)|all_lung(136;0.188)	116					Q969Y8	Silent	SNP	ENST00000276570.5	37	c.348C>A	CCDS6183.1																																																																																				0.557	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		27	69	1	0	4.34311e-12	0.003271	5.9802e-12	27	69				
MYBL1	4603	broad.mit.edu	37	8	67509761	67509761	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:67509761C>A	ENST00000522677.3	-	5	726	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	MYBL1_ENST00000524176.2_Missense_Mutation_p.G106W|MYBL1_ENST00000517885.1_Splice_Site_p.G106*	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	106	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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.G106W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTTTTGGCCCATATTTCTGA	0.299																																							uc003xwj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(316-318)GGG>TGG		v-myb myeloblastosis viral oncogene homolog							63.0	57.0	59.0					8																	67509761		1809	4073	5882	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67509761C>A	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.316G>T	8.37:g.67509761C>A	ENSP00000429633:p.Gly106Trp					MYBL1_uc003xwl.2_Missense_Mutation_p.G106W|MYBL1_uc003xwk.2_Missense_Mutation_p.G106W	p.G106W	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		5	723	-			106			HTH myb-type 2.		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.316G>T	CCDS47867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.474044|6.474044	0.97594|0.97594	.|.	.|.	ENSG00000185697|ENSG00000185697	ENST00000522677;ENST00000524176|ENST00000517885	T;T|.	0.34472|.	1.82;1.36|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|.	0.91690|.	0.7373|.	H|H	0.99435|0.99435	4.565|4.565	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.995;1.0|.	D|.	0.95536|.	0.8608|.	10|.	0.87932|0.87932	D|D	0|0	-8.5789|-8.5789	18.5412|18.5412	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;106;106|.	Q495F9;Q495G0;P10243|.	.;.;MYBA_HUMAN|.	W|X	106|106	ENSP00000429633:G106W;ENSP00000428011:G106W|.	ENSP00000429633:G106W|ENSP00000428265:G106X	G|G	-|-	1|1	0|0	MYBL1|MYBL1	67672315|67672315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.770000|7.770000	0.85390|0.85390	2.364000|2.364000	0.80123|0.80123	0.462000|0.462000	0.41574|0.41574	GGG|GGA		0.299	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		23	27	1	0	2.89027e-11	0.002299	3.93609e-11	23	27				
ZFHX4	79776	broad.mit.edu	37	8	77768253	77768253	+	Silent	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:77768253T>A	ENST00000521891.2	+	10	9544	c.9096T>A	c.(9094-9096)atT>atA	p.I3032I	ZFHX4_ENST00000455469.2_Silent_p.I2987I|ZFHX4_ENST00000518282.1_Silent_p.I3006I|ZFHX4_ENST00000050961.6_Silent_p.I2987I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2987					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I3016I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGCACATTTCAAAAGTGA	0.532										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8959-8961)ATT>ATA		zinc finger homeodomain 4							67.0	66.0	66.0					8																	77768253		1959	4146	6105	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768253T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9096T>A	8.37:g.77768253T>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.I3032I|ZFHX4_uc003yaw.1_Silent_p.I2987I	p.I2987I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9348	+			2987					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8961T>A	CCDS47878.2																																																																																				0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	43	0	0	0	0.012319	0	21	43				
PSKH2	85481	broad.mit.edu	37	8	87081723	87081723	+	Silent	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:87081723C>A	ENST00000276616.2	-	1	203	c.129G>T	c.(127-129)gcG>gcT	p.A43A	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	43							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A43A(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTATCCTCTGCGCCGCCTGGG	0.697																																							uc011lfy.1		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(127-129)GCG>GCT		protein serine kinase H2							9.0	12.0	11.0					8																	87081723		2150	4228	6378	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081723C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.129G>T	8.37:g.87081723C>A							p.A43A	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	129	-			43					A0AV22	Silent	SNP	ENST00000276616.2	37	c.129G>T	CCDS6240.1																																																																																				0.697	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		15	9	1	0	1.99824e-07	0.00499	2.45238e-07	15	9				
SLC7A13	157724	broad.mit.edu	37	8	87242304	87242305	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:87242304_87242305GC>AG	ENST00000297524.3	-	1	305_306	c.202_203GC>CT	c.(202-204)GCa>CTa	p.A68L	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A68L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	68						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.A68L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ACTTATCTCTGCAGAGCAAAGA	0.48																																							uc003ydq.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(202-204)GCA>CTA		solute carrier family 7, (cationic amino acid																																				SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242304_87242305GC>AG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.202_203delinsAG	8.37:g.87242304_87242305delinsAG	ENSP00000297524:p.Ala68Leu					SLC7A13_uc003ydr.1_Missense_Mutation_p.A68L	p.A68L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	300_301	-			68			Cytoplasmic (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	DNP	ENST00000297524.3	37	c.202_203GC>CT	CCDS34917.1																																																																																				0.480	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		42	31	0	0	0	0.004672	0	42	31				
NBN	4683	broad.mit.edu	37	8	90949303	90949303	+	Splice_Site	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:90949303C>G	ENST00000265433.3	-	15	2339	c.2185G>C	c.(2185-2187)Gta>Cta	p.V729L	NBN_ENST00000409330.1_Splice_Site_p.V647L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	729					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.V729L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGATTTTGTACCTGTCAAAAT	0.313								Homologous recombination																															uc003yej.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(3)|lung(1)	7						c.(2185-2187)GTA>CTA	Direct_reversal_of_damage|Homologous_recombination	nibrin							90.0	88.0	88.0					8																	90949303		2203	4300	6503	SO:0001630	splice_region_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90949303C>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2185-1G>C	8.37:g.90949303C>G						NBN_uc003yei.1_Missense_Mutation_p.V647L|NBN_uc011lgb.1_Intron	p.V729L	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		15	2295	-			729					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2185G>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234144	0.39498	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.59772	0.25;0.24	5.41	4.52	0.55395	DNA repair Nbs1, C-terminal (1);	0.061323	0.64402	D	0.000006	T	0.60287	0.2257	L	0.40543	1.245	0.31752	N	0.634457	D	0.58268	0.982	P	0.57283	0.817	T	0.61292	-0.7092	10	0.28530	T	0.3	-17.2034	12.6685	0.56855	0.0:0.9191:0.0:0.0809	.	729	O60934	NBN_HUMAN	L	729;647	ENSP00000265433:V729L;ENSP00000386924:V647L	ENSP00000265433:V729L	V	-	1	0	NBN	91018479	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.257000	0.51500	2.691000	0.91804	0.650000	0.86243	GTA		0.313	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	Missense_Mutation	35	35	0	0	0	0.002836	0	35	35				
OSR2	116039	broad.mit.edu	37	8	99961564	99961564	+	Missense_Mutation	SNP	G	G	C	rs202146539		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:99961564G>C	ENST00000297565.4	+	2	880	c.384G>C	c.(382-384)gaG>gaC	p.E128D	OSR2_ENST00000523368.1_Missense_Mutation_p.E128D|OSR2_ENST00000522510.1_Missense_Mutation_p.E128D|OSR2_ENST00000435298.2_Missense_Mutation_p.E128D|OSR2_ENST00000457907.2_Missense_Mutation_p.E249D	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	128					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E128E(1)|p.E128D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCACGCAAGAGGATCCGCCTA	0.617																																							uc003yir.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		ovary(1)|lung(1)	central_nervous_system(1)	1						c.(382-384)GAG>GAC		odd-skipped related 2 isoform a							83.0	93.0	90.0					8																	99961564		1943	4149	6092	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961564G>C	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.384G>C	8.37:g.99961564G>C	ENSP00000297565:p.Glu128Asp					OSR2_uc010mbn.2_Missense_Mutation_p.E128D|OSR2_uc003yiq.2_Missense_Mutation_p.E128D|OSR2_uc011lgx.1_Missense_Mutation_p.E249D	p.E128D	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	919	+	Breast(36;4.14e-07)		128					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.384G>C	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497879	0.26861	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.09163	3.07;3.09;3.3;3.09;3.01;3.2;3.32	4.35	-0.548	0.11833	.	0.000000	0.85682	D	0.000000	T	0.07503	0.0189	L	0.43152	1.355	0.58432	D	0.999998	P;B;P;B	0.37688	0.605;0.15;0.497;0.234	B;B;B;B	0.30401	0.115;0.039;0.112;0.084	T	0.33007	-0.9885	9	.	.	.	-19.9993	10.6924	0.45879	0.4492:0.0:0.5508:0.0	.	249;128;128;128	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	D	128;128;128;128;249;181;128	ENSP00000430041:E128D;ENSP00000297565:E128D;ENSP00000402862:E128D;ENSP00000430780:E128D;ENSP00000414657:E249D;ENSP00000430074:E181D;ENSP00000429910:E128D	.	E	+	3	2	OSR2	100030740	1.000000	0.71417	0.990000	0.47175	0.382000	0.30200	1.927000	0.40094	-0.317000	0.08677	-0.797000	0.03246	GAG		0.617	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		49	130	0	0	0	0.00361	0	49	130				
NCALD	83988	broad.mit.edu	37	8	102731843	102731843	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:102731843G>A	ENST00000311028.3	-	5	393	c.15C>T	c.(13-15)aaC>aaT	p.N5N	NCALD_ENST00000519508.2_Silent_p.N5N|NCALD_ENST00000521599.1_Silent_p.N5N|NCALD_ENST00000522951.1_Silent_p.N5N|NCALD_ENST00000220931.6_Silent_p.N5N|NCALD_ENST00000395923.1_Silent_p.N5N	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	5					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)	p.N5N(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GCAGCTTGCTGTTCTGTTTCC	0.453																																							uc003yke.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)AAC>AAT		neurocalcin delta							51.0	54.0	53.0					8																	102731843		2203	4300	6503	SO:0001819	synonymous_variant	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731843G>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.15C>T	8.37:g.102731843G>A						NCALD_uc003ykf.2_Silent_p.N5N|NCALD_uc003ykg.2_Silent_p.N5N|NCALD_uc003ykh.2_Silent_p.N5N|NCALD_uc003yki.2_Silent_p.N5N|NCALD_uc003ykj.2_Silent_p.N5N|NCALD_uc003ykk.2_Silent_p.N5N|NCALD_uc003ykl.2_Silent_p.N5N	p.N5N	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		2	384	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		5					P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	c.15C>T	CCDS6292.1																																																																																				0.453	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			41	105	0	0	0	0.010771	0	41	105				
LRP12	29967	broad.mit.edu	37	8	105503136	105503136	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:105503136C>A	ENST00000276654.5	-	7	2453	c.2345G>T	c.(2344-2346)gGa>gTa	p.G782V	LRP12_ENST00000424843.2_Missense_Mutation_p.G763V|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	782					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.G782V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTGAAGATCCATCAGAAAT	0.408																																							uc003yma.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2344-2346)GGA>GTA		low density lipoprotein-related protein 12							153.0	140.0	144.0					8																	105503136		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503136C>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2345G>T	8.37:g.105503136C>A	ENSP00000276654:p.Gly782Val					LRP12_uc003ymb.2_Missense_Mutation_p.G763V|LRP12_uc003ylz.2_Missense_Mutation_p.G188V	p.G782V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2440	-			782			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2345G>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242213	0.10077	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83250	-1.7;-1.63	5.32	3.41	0.39046	.	0.356436	0.30464	N	0.009572	T	0.62085	0.2399	N	0.03608	-0.345	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57493	-0.7802	10	0.37606	T	0.19	-18.0633	9.2127	0.37328	0.22:0.6545:0.1254:0.0	.	763;782	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	V	763;782;147	ENSP00000399148:G763V;ENSP00000276654:G782V	ENSP00000276654:G782V	G	-	2	0	LRP12	105572312	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	0.892000	0.28322	1.360000	0.45960	0.650000	0.86243	GGA		0.408	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		31	108	1	0	2.08457e-15	0.010818	3.17284e-15	31	108				
CSMD3	114788	broad.mit.edu	37	8	113299337	113299337	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:113299337C>G	ENST00000297405.5	-	58	9531	c.9287G>C	c.(9286-9288)tGt>tCt	p.C3096S	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2927S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3056S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3026S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3096	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C3056S(1)|p.C3096S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTAGCTAAACATGTTCTTTC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9286-9288)TGT>TCT		CUB and Sushi multiple domains 3 isoform 1							180.0	156.0	164.0					8																	113299337		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299337C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9287G>C	8.37:g.113299337C>G	ENSP00000297405:p.Cys3096Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C2298S|CSMD3_uc003ynt.2_Missense_Mutation_p.C3056S|CSMD3_uc011lhx.1_Missense_Mutation_p.C2927S	p.C3096S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9446	-			3096			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9287G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673834	0.88445	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.99867	4.865	0.80722	D	1	D;D;B	0.89917	0.997;1.0;0.048	D;D;B	0.91635	0.995;0.999;0.122	D	0.99486	1.0949	10	0.72032	D	0.01	.	19.445	0.94843	0.0:1.0:0.0:0.0	.	2927;3096;3056	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3056;3096;2366;2927;3026	ENSP00000345799:C3056S;ENSP00000297405:C3096S;ENSP00000341558:C2366S;ENSP00000412263:C2927S;ENSP00000343124:C3026S	ENSP00000297405:C3096S	C	-	2	0	CSMD3	113368513	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.583000	0.82559	2.665000	0.90641	0.650000	0.86243	TGT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		38	104	0	0	0	0.010771	0	38	104				
CSMD3	114788	broad.mit.edu	37	8	113347651	113347651	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:113347651C>A	ENST00000297405.5	-	45	7316	c.7072G>T	c.(7072-7074)Gct>Tct	p.A2358S	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2358	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2358S(1)|p.A2318S(1)|p.A2358T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATTCCAAAGCGGTATTGCCA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7072-7074)GCT>TCT		CUB and Sushi multiple domains 3 isoform 1							131.0	119.0	123.0					8																	113347651		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347651C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7072G>T	8.37:g.113347651C>A	ENSP00000297405:p.Ala2358Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.A1560S|CSMD3_uc003ynt.2_Missense_Mutation_p.A2318S|CSMD3_uc011lhx.1_Missense_Mutation_p.A2254S|CSMD3_uc003ynw.1_Missense_Mutation_p.A69S	p.A2358S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			45	7231	-			2358			Extracellular (Potential).|CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7072G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645467	0.87859	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	4.78	4.78	0.61160	CUB (5);	0.154015	0.43260	D	0.000591	T	0.63745	0.2537	N	0.25332	0.735	0.58432	D	0.999998	P;D;D	0.89917	0.916;0.971;1.0	P;P;D	0.80764	0.584;0.849;0.994	T	0.57189	-0.7854	10	0.18276	T	0.48	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2254;2358;2318	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2318;2358;1628;2254;2288	ENSP00000345799:A2318S;ENSP00000297405:A2358S;ENSP00000341558:A1628S;ENSP00000412263:A2254S;ENSP00000343124:A2288S	ENSP00000297405:A2358S	A	-	1	0	CSMD3	113416827	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.751000	0.68720	2.649000	0.89929	0.585000	0.79938	GCT		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	30	1	0	7.11191e-15	0.002836	1.06679e-14	33	30				
COL14A1	7373	broad.mit.edu	37	8	121228707	121228707	+	Missense_Mutation	SNP	C	C	G	rs150549316		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:121228707C>G	ENST00000297848.3	+	14	1985	c.1715C>G	c.(1714-1716)gCa>gGa	p.A572G	COL14A1_ENST00000247781.3_Missense_Mutation_p.A477G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.A572G|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A572G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATAACAATGCAGATGGGACT	0.388																																							uc003yox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1714-1716)GCA>GGA		collagen, type XIV, alpha 1 precursor							117.0	110.0	113.0					8																	121228707		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228707C>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1715C>G	8.37:g.121228707C>G	ENSP00000297848:p.Ala572Gly					COL14A1_uc003yoy.2_Missense_Mutation_p.A250G|COL14A1_uc010mde.1_Missense_Mutation_p.A250G	p.A572G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1980	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		572			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1715C>G	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.426|5.426	0.263724|0.263724	0.10294|0.10294	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36|.	5.29|5.29	0.286|0.286	0.15710|0.15710	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.295671|.	0.35495|.	N|.	0.003169|.	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.41710|0.41710	1.295|1.295	0.26804|0.26804	N|N	0.969144|0.969144	B;B|.	0.31949|.	0.348;0.09|.	B;B|.	0.33042|.	0.157;0.089|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.28530|.	T|.	0.3|.	.|.	5.2277|5.2277	0.15404|0.15404	0.299:0.5183:0.1097:0.0729|0.299:0.5183:0.1097:0.0729	.|.	572;572|.	Q05707-2;Q05707|.	.;COEA1_HUMAN|.	G|W	572;572;477;385|328	ENSP00000311809:A572G;ENSP00000297848:A572G;ENSP00000247781:A477G;ENSP00000409461:A385G|.	ENSP00000247781:A477G|.	A|C	+|+	2|3	0|2	COL14A1|COL14A1	121297888|121297888	0.675000|0.675000	0.27558|0.27558	0.127000|0.127000	0.21898|0.21898	0.095000|0.095000	0.18619|0.18619	1.551000|1.551000	0.36233|0.36233	0.141000|0.141000	0.18875|0.18875	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		70	65	0	0	0	0.00361	0	70	65				
TG	7038	broad.mit.edu	37	8	133945830	133945830	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:133945830G>A	ENST00000220616.4	+	24	4881	c.4841G>A	c.(4840-4842)aGc>aAc	p.S1614N	TG_ENST00000377869.1_Missense_Mutation_p.S1557N|TG_ENST00000542445.1_Missense_Mutation_p.S48N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1614					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S1614N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGCCTGCAGCTTCTTCACC	0.572																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(4840-4842)AGC>AAC		thyroglobulin precursor							274.0	203.0	227.0					8																	133945830		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133945830G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4841G>A	8.37:g.133945830G>A	ENSP00000220616:p.Ser1614Asn					TG_uc010mdw.2_Missense_Mutation_p.S373N|TG_uc011ljb.1_Missense_Mutation_p.S47N	p.S1614N	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	24	4882	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1614			Type IIIA.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4841G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120491	0.08881	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	T;T;T	0.70045	-0.45;-0.45;-0.45	5.3	4.39	0.52855	.	0.563437	0.19183	N	0.120622	T	0.64405	0.2595	M	0.67953	2.075	0.24151	N	0.995694	B;B	0.29301	0.241;0.22	B;B	0.35114	0.196;0.094	T	0.52668	-0.8545	10	0.17369	T	0.5	.	12.0552	0.53531	0.0:0.1723:0.8277:0.0	.	48;1614	F5GWW5;P01266	.;THYG_HUMAN	N	1557;420;1614;48	ENSP00000367100:S1557N;ENSP00000220616:S1614N;ENSP00000441693:S48N	ENSP00000220616:S1614N	S	+	2	0	TG	134015012	0.997000	0.39634	0.999000	0.59377	0.051000	0.14879	1.923000	0.40055	2.761000	0.94854	0.637000	0.83480	AGC		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		39	109	0	0	0	0.009718	0	39	109				
SLA	6503	broad.mit.edu	37	8	134050794	134050794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:134050794G>T	ENST00000338087.5	-	9	1625	c.806C>A	c.(805-807)tCa>tAa	p.S269*	TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.S161*|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Nonsense_Mutation_p.S309*|SLA_ENST00000395352.3_Nonsense_Mutation_p.S286*|SLA_ENST00000517648.1_Nonsense_Mutation_p.S242*|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	269	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.S309*(1)|p.S269*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGTGGTGATGAGAAGAATGA	0.468																																							uc003ytz.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(1)|liver(1)	2						c.(805-807)TCA>TAA		Src-like-adaptor isoform a							226.0	194.0	205.0					8																	134050794		2203	4300	6503	SO:0001587	stop_gained	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050794G>T		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.806C>A	8.37:g.134050794G>T	ENSP00000337548:p.Ser269*					TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Nonsense_Mutation_p.S286*|SLA_uc011ljf.1_Nonsense_Mutation_p.S161*|SLA_uc011ljg.1_Nonsense_Mutation_p.S242*|SLA_uc011ljd.1_Nonsense_Mutation_p.S309*	p.S269*	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1638	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	269			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Nonsense_Mutation	SNP	ENST00000338087.5	37	c.806C>A	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	G	43	10.352851	0.99389	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	.	.	.	5.92	5.92	0.95590	.	0.482752	0.21894	N	0.067544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8974	11.2475	0.49006	0.0828:0.0:0.9172:0.0	.	.	.	.	X	269;309;286;161;242	.	ENSP00000337548:S269X	S	-	2	0	SLA	134119976	0.995000	0.38212	0.707000	0.30419	0.765000	0.43378	2.977000	0.49297	2.805000	0.96524	0.655000	0.94253	TCA		0.468	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			62	155	1	0	3.86002e-21	0.00361	6.54937e-21	62	155				
COL22A1	169044	broad.mit.edu	37	8	139788254	139788254	+	Splice_Site	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:139788254C>G	ENST00000303045.6	-	16	2205		c.e16-1		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGGAGACCCTGGGGGACAA	0.507										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Unknown(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.e16-1		collagen, type XXII, alpha 1							182.0	161.0	168.0					8																	139788254		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788254C>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1759-1G>C	8.37:g.139788254C>G		HNSCC(7;0.00092)					p.G587_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2206	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.1759_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639163	0.29157	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8234	0.57707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139857436	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.472000	0.53114	2.748000	0.94277	0.655000	0.94253	.		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	18	92	0	0	0	0.006122	0	18	92				
OPLAH	26873	broad.mit.edu	37	8	145113021	145113021	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:145113021C>T	ENST00000426825.1	-	8	1061	c.980G>A	c.(979-981)gGg>gAg	p.G327E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	327					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.G327E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCGAATTCCCCAGCATAGCG	0.682																																							uc003zar.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(979-981)GGG>GAG		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						44.0	51.0	48.0					8																	145113021		2028	4167	6195	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113021C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.980G>A	8.37:g.145113021C>T	ENSP00000475943:p.Gly327Glu					OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.G105E	p.G327E	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1062	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		327					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.980G>A		.	.	.	.	.	.	.	.	.	.	C	6.517	0.463628	0.12402	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	.	.	.	0.58432	D	0.999993	P;D	0.76494	0.949;0.999	D;D	0.87578	0.937;0.998	D	0.84381	0.0549	7	0.72032	D	0.01	.	14.8397	0.70214	0.0:1.0:0.0:0.0	.	327;327	A7E261;O14841	.;OPLA_HUMAN	E	327	.	ENSP00000412071:G327E	G	-	2	0	OPLAH	145185009	0.995000	0.38212	0.980000	0.43619	0.051000	0.14879	4.391000	0.59652	2.072000	0.62099	0.467000	0.42956	GGG		0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		24	76	0	0	0	0.003954	0	24	76				
CPSF1	29894	broad.mit.edu	37	8	145634558	145634558	+	Splice_Site	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:145634558T>A	ENST00000349769.3	-	2	81		c.e2-2		GS1-393G12.14_ENST00000607491.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAACCCGGGCTGCGCAAGGCC	0.711																																					NSCLC(133;1088 1848 27708 34777 35269)	NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.e2-1		cleavage and polyadenylation specific factor 1,							54.0	53.0	54.0					8																	145634558		2203	4300	6503	SO:0001630	splice_region_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145634558T>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.14-2A>T	8.37:g.145634558T>A						CPSF1_uc011lle.1_5'UTR|CPSF1_uc011llf.1_Splice_Site|CPSF1_uc003zcl.1_Splice_Site		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		2	62	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							Q96AF0	Splice_Site	SNP	ENST00000349769.3	37	c.-13_splice	CCDS34966.1																																																																																				0.711	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	Intron	60	42	0	0	0	0.00361	0	60	42				
ADAMTSL1	92949	broad.mit.edu	37	9	18776906	18776906	+	Silent	SNP	G	G	T	rs369204296		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:18776906G>T	ENST00000380548.4	+	19	3018	c.2679G>T	c.(2677-2679)acG>acT	p.T893T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	893	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T893T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCCCAAGACGGCGGTGGTGC	0.682																																							uc003zne.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2677-2679)ACG>ACT		ADAMTS-like 1 isoform 4 precursor							19.0	24.0	22.0					9																	18776906		2035	4176	6211	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18776906G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2679G>T	9.37:g.18776906G>T							p.T893T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2806	+			893			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2679G>T	CCDS47954.1																																																																																				0.682	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			37	4	1	0	9.62906e-15	0.00623	1.44088e-14	37	4				
TMC1	117531	broad.mit.edu	37	9	75357402	75357402	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:75357402G>T	ENST00000297784.5	+	10	1036	c.496G>T	c.(496-498)Gcg>Tcg	p.A166S	TMC1_ENST00000396237.3_Missense_Mutation_p.A166S|TMC1_ENST00000340019.3_Missense_Mutation_p.A166S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	166	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.A166S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTTCAAAGCTGCGTGTGTCCC	0.368																																					Pancreas(75;173 1345 14232 34245 43413)	Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)GCG>TCG		transmembrane channel-like 1							93.0	86.0	88.0					9																	75357402		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75357402G>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.496G>T	9.37:g.75357402G>T	ENSP00000297784:p.Ala166Ser					TMC1_uc010moz.1_Missense_Mutation_p.A124S|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A20S|TMC1_uc010mpa.1_Missense_Mutation_p.A20S	p.A166S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			10	1036	+			166			Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.496G>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478876	0.84747	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.19105	2.17;2.17;2.17	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.29908	0.895	0.58432	D	0.999999	P;P;P	0.52316	0.902;0.902;0.952	P;P;P	0.53360	0.554;0.554;0.724	T	0.01068	-1.1462	10	0.15952	T	0.53	-13.2617	18.8421	0.92188	0.0:0.0:1.0:0.0	.	133;133;166	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	S	166;166;133;133;133;160;166	ENSP00000297784:A166S;ENSP00000341433:A166S;ENSP00000379538:A166S	ENSP00000297784:A166S	A	+	1	0	TMC1	74547222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.011000	0.57124	2.744000	0.94065	0.655000	0.94253	GCG		0.368	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			15	21	1	0	1.15088e-07	0.004007	1.42939e-07	15	21				
TRPM6	140803	broad.mit.edu	37	9	77377235	77377235	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:77377235C>A	ENST00000360774.1	-	26	4589	c.4352G>T	c.(4351-4353)gGa>gTa	p.G1451V	TRPM6_ENST00000361255.3_Missense_Mutation_p.G1446V|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1446V|TRPM6_ENST00000451710.3_Missense_Mutation_p.G1451V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1451V|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1451					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G1451V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTACATATCCACCTCCAGT	0.478																																							uc004ajl.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4351-4353)GGA>GTA		transient receptor potential cation channel,							110.0	108.0	109.0					9																	77377235		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377235C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4352G>T	9.37:g.77377235C>A	ENSP00000354006:p.Gly1451Val					TRPM6_uc004ajk.1_Missense_Mutation_p.G1446V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.G407V	p.G1451V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4590	-			1451			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4352G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326590	0.81690	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.69435	-0.33;-0.33;-0.32;-0.33;-0.4	5.81	5.81	0.92471	.	0.444231	0.26944	N	0.021715	T	0.69424	0.3109	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.939;0.995;0.973	T	0.76688	-0.2867	10	0.87932	D	0	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	1451;1446;1446	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	V	1451;1451;1446;1446;1451	ENSP00000354006:G1451V;ENSP00000407341:G1451V;ENSP00000396672:G1446V;ENSP00000354962:G1446V;ENSP00000366060:G1451V	ENSP00000354006:G1451V	G	-	2	0	TRPM6	76567055	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.331000	0.65905	2.750000	0.94351	0.655000	0.94253	GGA		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		27	29	1	0	8.58068e-18	0.007291	1.36631e-17	27	29				
PRUNE2	158471	broad.mit.edu	37	9	79321559	79321559	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:79321559C>A	ENST00000376718.3	-	8	5754	c.5631G>T	c.(5629-5631)gaG>gaT	p.E1877D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1518D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1877					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E1877D(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCCACGGGCTCAATATCAC	0.463																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5629-5631)GAG>GAT		prune homolog 2							73.0	63.0	66.0					9																	79321559		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321559C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5631G>T	9.37:g.79321559C>A	ENSP00000365908:p.Glu1877Asp					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.E1877D	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5755	-			1877					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5631G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.38|11.38	1.622053|1.622053	0.28889|0.28889	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.57107	.|0.42;0.43	6.04|6.04	-0.219|-0.219	0.13135|0.13135	.|.	.|0.220795	.|0.31784	.|N	.|0.007076	T|T	0.46268|0.46268	0.1384|0.1384	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	0.999994|0.999994	.|P	.|0.52316	.|0.952	.|B	.|0.43360	.|0.417	T|T	0.47522|0.47522	-0.9111|-0.9111	5|10	.|0.87932	.|D	.|0	-9.2033|-9.2033	9.2567|9.2567	0.37588|0.37588	0.0:0.4122:0.0:0.5878|0.0:0.4122:0.0:0.5878	.|.	.|1877	.|Q8WUY3	.|PRUN2_HUMAN	S|D	1199|1877;1518;1876	.|ENSP00000365908:E1877D;ENSP00000397425:E1518D	.|ENSP00000365908:E1877D	A|E	-|-	1|3	0|2	PRUNE2|PRUNE2	78511379|78511379	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.207000|-0.207000	0.09384|0.09384	-0.263000|-0.263000	0.09378|0.09378	0.561000|0.561000	0.74099|0.74099	GCC|GAG		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		9	10	1	0	1.12685e-05	0.004482	1.2911e-05	9	10				
PRUNE2	158471	broad.mit.edu	37	9	79323135	79323135	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:79323135G>C	ENST00000376718.3	-	8	4178	c.4055C>G	c.(4054-4056)gCc>gGc	p.A1352G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A993G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1352					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A1352G(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATCCCTGAGGCATTCTCCAC	0.502																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4054-4056)GCC>GGC		prune homolog 2							87.0	78.0	81.0					9																	79323135		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323135G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4055C>G	9.37:g.79323135G>C	ENSP00000365908:p.Ala1352Gly						p.A1352G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	4179	-			1352					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4055C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.611283|2.611283	0.46631|0.46631	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.50813|.	0.73;0.73|.	5.45|5.45	1.19|1.19	0.21007|0.21007	.|.	2.079840|.	0.02201|.	N|.	0.062304|.	T|T	0.37732|0.37732	0.1014|0.1014	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P|.	0.35077|.	0.483|.	B|.	0.27887|.	0.084|.	T|T	0.33574|0.33574	-0.9863|-0.9863	10|5	0.62326|.	D|.	0.03|.	1.5282|1.5282	2.0223|2.0223	0.03512|0.03512	0.1632:0.1287:0.444:0.2642|0.1632:0.1287:0.444:0.2642	.|.	1352|.	Q8WUY3|.	PRUN2_HUMAN|.	G|W	1352;993;1351|673	ENSP00000365908:A1352G;ENSP00000397425:A993G|.	ENSP00000365908:A1352G|.	A|C	-|-	2|3	0|2	PRUNE2|PRUNE2	78512955|78512955	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.200000|0.200000	0.17257|0.17257	0.019000|0.019000	0.15079|0.15079	-0.355000|-0.355000	0.07637|0.07637	GCC|TGC		0.502	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		25	24	0	0	0	0.004656	0	25	24				
AGTPBP1	23287	broad.mit.edu	37	9	88292465	88292465	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:88292465T>A	ENST00000357081.3	-	6	466	c.322A>T	c.(322-324)Aaa>Taa	p.K108*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.K108*|AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.K50*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.K160*|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.K50*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.K108*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	108					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K108*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GAACCACCTTTGGTGACTAAG	0.299																																							uc011ltd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(322-324)AAA>TAA		ATP/GTP binding protein 1							116.0	113.0	114.0					9																	88292465		2203	4300	6503	SO:0001587	stop_gained	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88292465T>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.322A>T	9.37:g.88292465T>A	ENSP00000349592:p.Lys108*					AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.K50*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.K108*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.K160*	p.K108*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			5	355	-			108					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37	c.322A>T		.	.	.	.	.	.	.	.	.	.	T	27.9	4.875100	0.91664	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081;ENST00000376080	.	.	.	5.63	5.63	0.86233	.	0.130237	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1331	16.1381	0.81502	0.0:0.0:0.0:1.0	.	.	.	.	X	50;108;108;160;108;50	.	ENSP00000338512:K50X	K	-	1	0	AGTPBP1	87482285	1.000000	0.71417	0.999000	0.59377	0.082000	0.17680	7.241000	0.78201	2.258000	0.74832	0.533000	0.62120	AAA		0.299	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		16	42	0	0	0	0.006122	0	16	42				
S1PR3	1903	broad.mit.edu	37	9	91616117	91616117	+	Start_Codon_SNP	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:91616117T>A	ENST00000375846.3	+	1	4697	c.2T>A	c.(1-3)aTg>aAg	p.M1K	S1PR3_ENST00000358157.2_Start_Codon_SNP_p.M1K			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	1					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.M1K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGCCAAGTGATGGCAACTGCC	0.607											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004aqe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1-3)ATG>AAG		sphingosine-1-phosphate receptor 3							48.0	56.0	54.0					9																	91616117		2203	4298	6501	SO:0001582	initiator_codon_variant	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616117T>A	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.2T>A	9.37:g.91616117T>A	ENSP00000365006:p.Met1Lys		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283		p.M1K	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	398	+			1			Extracellular (By similarity).		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.2T>A	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	T	9.724	1.160374	0.21454	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.67523	-0.27;-0.27	5.1	2.71	0.32032	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.57118	-0.7866	8	0.87932	D	0	.	9.5729	0.39438	0.0:0.1479:0.0:0.8521	.	1	Q99500	S1PR3_HUMAN	K	1	ENSP00000350878:M1K;ENSP00000365006:M1K	ENSP00000350878:M1K	M	+	2	0	S1PR3	90805937	1.000000	0.71417	0.338000	0.25549	0.034000	0.12701	1.763000	0.38461	0.965000	0.38133	0.454000	0.30748	ATG		0.607	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	Missense_Mutation	21	53	0	0	0	0.010504	0	21	53				
ZNF484	83744	broad.mit.edu	37	9	95609812	95609812	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:95609812C>A	ENST00000375495.3	-	5	1405	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	ZNF484_ENST00000332591.6_Missense_Mutation_p.K383N|ZNF484_ENST00000395506.3_Missense_Mutation_p.K421N|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.K383N	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K419N(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGATAAAGGCCTTCCCACATT	0.358																																							uc004asu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)AAG>AAT		zinc finger protein 484 isoform a							75.0	79.0	78.0					9																	95609812		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609812C>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1257G>T	9.37:g.95609812C>A	ENSP00000364645:p.Lys419Asn					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.K421N|ZNF484_uc010mrb.1_Missense_Mutation_p.K383N|ZNF484_uc004asv.1_Missense_Mutation_p.K383N	p.K419N	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1406	-			419			C2H2-type 6.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1257G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.75	2.331659	0.41297	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	2.36	0.295	0.15752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.89968	3.075	0.24738	N	0.993054	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.05784	-1.0864	9	0.87932	D	0	.	5.0731	0.14617	0.0:0.3459:0.0:0.6541	.	421;419	B4DRI2;Q5JVG2	.;ZN484_HUMAN	N	383;421;419;383	ENSP00000378881:K383N;ENSP00000378882:K421N;ENSP00000364645:K419N;ENSP00000364646:K383N	ENSP00000364646:K383N	K	-	3	2	ZNF484	94649633	0.059000	0.20769	1.000000	0.80357	0.998000	0.95712	0.299000	0.19138	0.068000	0.16574	0.545000	0.68477	AAG		0.358	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		26	35	1	0	1.1804e-14	0.003954	1.75786e-14	26	35				
COL15A1	1306	broad.mit.edu	37	9	101748161	101748161	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:101748161A>T	ENST00000375001.3	+	3	838	c.415A>T	c.(415-417)Acg>Tcg	p.T139S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	139	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.T139S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCTACTACACGGAGCCAGG	0.612																																							uc004azb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(415-417)ACG>TCG		alpha 1 type XV collagen precursor							99.0	92.0	95.0					9																	101748161		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748161A>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.415A>T	9.37:g.101748161A>T	ENSP00000364140:p.Thr139Ser					COL15A1_uc004aza.2_Missense_Mutation_p.T139S	p.T139S	NM_001855	NP_001846	P39059	COFA1_HUMAN			3	621	+		Acute lymphoblastic leukemia(62;0.0562)	139			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.415A>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627485	0.66901	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.72835	-0.69	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.051045	0.85682	D	0.000000	T	0.78660	0.4318	L	0.59912	1.85	0.45477	D	0.998447	P;D	0.59767	0.925;0.986	D;D	0.64506	0.92;0.926	T	0.75921	-0.3147	10	0.26408	T	0.33	-11.0459	13.3949	0.60846	1.0:0.0:0.0:0.0	.	139;109	P39059;B3KTP7	COFA1_HUMAN;.	S	139;109	ENSP00000364140:T139S	ENSP00000364140:T139S	T	+	1	0	COL15A1	100787982	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.287000	0.95975	2.108000	0.64289	0.528000	0.53228	ACG		0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		14	49	0	0	0	0.00245	0	14	49				
MURC	347273	broad.mit.edu	37	9	103348395	103348395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:103348395G>T	ENST00000307584.5	+	2	822	c.757G>T	c.(757-759)Gag>Tag	p.E253*		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	253					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.E253*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				ACAGTCAGGGGAGAGGTTTAA	0.502																																							uc004bba.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(757-759)GAG>TAG		muscle-related coiled-coil protein							95.0	105.0	102.0					9																	103348395		2203	4300	6503	SO:0001587	stop_gained	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348395G>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.757G>T	9.37:g.103348395G>T	ENSP00000418668:p.Glu253*						p.E253*	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			2	847	+		Acute lymphoblastic leukemia(62;0.0461)	253					B1PRL3|B4DT88	Nonsense_Mutation	SNP	ENST00000307584.5	37	c.757G>T	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197027	0.79015	.	.	ENSG00000170681	ENST00000307584	.	.	.	4.91	4.91	0.64330	.	0.052894	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.5988	15.9779	0.80083	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000418668:E253X	E	+	1	0	MURC	102388216	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.882000	0.56160	2.715000	0.92844	0.561000	0.74099	GAG		0.502	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		17	72	1	0	2.35188e-11	0.006122	3.20993e-11	17	72				
KIAA0368	23392	broad.mit.edu	37	9	114156013	114156013	+	Splice_Site	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:114156013G>T	ENST00000338205.5	-	26	3143	c.2924C>A	c.(2923-2925)tCt>tAt	p.S975Y	KIAA0368_ENST00000259335.4_Splice_Site_p.S1153Y|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	981					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.S1153Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTAAGATGAGACTGAAAGAA	0.303																																							uc004bfe.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3457-3459)TCT>TAT		KIAA0368 protein							54.0	53.0	53.0					9																	114156013		1832	4083	5915	SO:0001630	splice_region_variant	23392							g.chr9:114156013G>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2923-1C>A	9.37:g.114156013G>T							p.S1153Y	NM_001080398	NP_001073867					28	3458	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.3458C>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.145039	0.77888	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.68181	-0.31	5.42	5.42	0.78866	.	0.176366	0.51477	D	0.000091	T	0.73938	0.3651	M	0.75085	2.285	0.80722	D	1	P	0.44241	0.829	P	0.45913	0.497	T	0.77910	-0.2411	10	0.72032	D	0.01	.	18.5722	0.91140	0.0:0.0:1.0:0.0	.	450	B3KXF2	.	Y	975;1153;450	ENSP00000259335:S1153Y	ENSP00000259335:S1153Y	S	-	2	0	KIAA0368	113195834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.315000	0.89983	2.702000	0.92279	0.655000	0.94253	TCT		0.303	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	Missense_Mutation	5	23	1	0	0.000602214	0.000602	0.000654948	5	23				
AKNA	80709	broad.mit.edu	37	9	117118346	117118346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:117118346T>A	ENST00000307564.4	-	14	3078	c.2917A>T	c.(2917-2919)Agg>Tgg	p.R973W	AKNA_ENST00000223791.3_Missense_Mutation_p.R433W|AKNA_ENST00000374088.3_Missense_Mutation_p.R973W|AKNA_ENST00000374075.5_Missense_Mutation_p.R892W	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	973					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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.R973W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGAGAACCCCTGGCCTTGGGG	0.632																																							uc004biq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(2917-2919)AGG>TGG		AT-hook transcription factor							80.0	81.0	81.0					9																	117118346		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117118346T>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2917A>T	9.37:g.117118346T>A	ENSP00000303769:p.Arg973Trp					AKNA_uc004bin.3_Missense_Mutation_p.R220W|AKNA_uc004bio.3_Missense_Mutation_p.R433W|AKNA_uc004bip.3_Missense_Mutation_p.R892W|AKNA_uc004bir.3_Missense_Mutation_p.R973W|AKNA_uc004bis.3_Missense_Mutation_p.R973W|AKNA_uc010mve.2_Missense_Mutation_p.R854W|AKNA_uc004bit.1_5'Flank	p.R973W	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			13	3052	-			973					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.2917A>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919507	0.52653	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.20738	2.29;2.29;2.05;2.29	5.27	2.87	0.33458	.	0.474289	0.20125	N	0.098707	T	0.32734	0.0839	L	0.46157	1.445	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	D;D	0.74348	0.962;0.983	T	0.07597	-1.0764	10	0.87932	D	0	-10.7946	5.3078	0.15813	0.0:0.0906:0.1779:0.7315	.	973;892	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	W	973;973;433;892	ENSP00000303769:R973W;ENSP00000363201:R973W;ENSP00000223791:R433W;ENSP00000363188:R892W	ENSP00000223791:R433W	R	-	1	2	AKNA	116158167	0.017000	0.18338	0.836000	0.33094	0.420000	0.31355	0.442000	0.21628	0.437000	0.26423	0.459000	0.35465	AGG		0.632	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		22	26	0	0	0	0.012319	0	22	26				
TTLL11	158135	broad.mit.edu	37	9	124801637	124801637	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:124801637C>A	ENST00000373776.3	-	2	930	c.743G>T	c.(742-744)gGc>gTc	p.G248V	TTLL11_ENST00000321582.5_Missense_Mutation_p.G248V|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	248	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.G248V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAAGCGCCGGCCAAATGGGAA	0.438																																							uc004blt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(742-744)GGC>GTC		tubulin tyrosine ligase-like family, member 11							71.0	70.0	70.0					9																	124801637		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124801637C>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.743G>T	9.37:g.124801637C>A	ENSP00000362881:p.Gly248Val					TTLL11_uc011lyl.1_Missense_Mutation_p.G248V|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_5'UTR|TTLL11_uc004blu.1_Missense_Mutation_p.G248V	p.G248V	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			2	931	-			248			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.743G>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835976	0.91117	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.07444	3.26;3.19	6.07	6.07	0.98685	.	0.400513	0.17341	U	0.177760	T	0.34803	0.0910	M	0.84773	2.715	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.64595	0.889;0.927	T	0.02676	-1.1125	10	0.66056	D	0.02	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	248;248	F8W6M1;Q8NHH1	.;TTL11_HUMAN	V	248	ENSP00000321346:G248V;ENSP00000362881:G248V	ENSP00000321346:G248V	G	-	2	0	TTLL11	123841458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.157000	0.77461	2.885000	0.99019	0.655000	0.94253	GGC		0.438	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		17	9	1	0	0.000566183	0.00499	0.000619014	17	9				
OR1J4	26219	broad.mit.edu	37	9	125282291	125282291	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:125282291G>T	ENST00000340750.1	+	1	872	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S291I(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTCATTTATAGCCTAAGGAAC	0.448																																							uc011lyw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(871-873)AGC>ATC		olfactory receptor, family 1, subfamily J,							78.0	75.0	76.0					9																	125282291		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282291G>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.872G>T	9.37:g.125282291G>T	ENSP00000343521:p.Ser291Ile						p.S291I	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	872	+			291			Helical; Name=7; (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.872G>T	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366184	0.41902	.	.	ENSG00000239590	ENST00000340750	T	0.36878	1.23	5.36	4.47	0.54385	.	0.000000	0.41194	U	0.000921	T	0.52629	0.1746	M	0.86864	2.845	0.31887	N	0.617708	P	0.39883	0.693	P	0.48901	0.594	T	0.66787	-0.5835	10	0.87932	D	0	.	8.9159	0.35581	0.0797:0.1496:0.7707:0.0	.	291	Q8NGS1	OR1J4_HUMAN	I	291	ENSP00000343521:S291I	ENSP00000343521:S291I	S	+	2	0	OR1J4	124322112	0.610000	0.26983	0.067000	0.19924	0.018000	0.09664	3.786000	0.55431	1.509000	0.48786	0.650000	0.86243	AGC		0.448	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			7	26	1	0	0.00448238	0.004482	0.00470991	7	26				
PRDM12	59335	broad.mit.edu	37	9	133542010	133542010	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:133542010C>G	ENST00000253008.2	+	2	299	c.239C>G	c.(238-240)tCc>tGc	p.S80C		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	80					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S80C(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGAAGCTGTCCAGCCTGGTG	0.687																																							uc004bzt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)TCC>TGC		PR domain containing 12							55.0	56.0	56.0					9																	133542010		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133542010C>G	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.239C>G	9.37:g.133542010C>G	ENSP00000253008:p.Ser80Cys						p.S80C	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	2	299	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	80					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.239C>G	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601568	0.87055	.	.	ENSG00000130711	ENST00000253008	T	0.23754	1.89	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	M	0.71036	2.16	0.54753	D	0.999988	D	0.56968	0.978	B	0.42245	0.381	T	0.24261	-1.0165	10	0.72032	D	0.01	-35.5465	12.1674	0.54138	0.0:0.9173:0.0:0.0827	.	80	Q9H4Q4	PRD12_HUMAN	C	80	ENSP00000253008:S80C	ENSP00000253008:S80C	S	+	2	0	PRDM12	132531831	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.562000	0.67346	2.412000	0.81896	0.491000	0.48974	TCC		0.687	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		27	24	0	0	0	0.005443	0	27	24				
TSC1	7248	broad.mit.edu	37	9	135781222	135781222	+	Silent	SNP	G	G	A	rs118203568|rs118203569		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:135781222G>A	ENST00000298552.3	-	15	1964	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	TSC1_ENST00000545250.1_Silent_p.F530F|TSC1_ENST00000440111.2_Silent_p.F581F	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	581					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.F581F(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GACTGGGAGTGAAGATACTGG	0.537			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc004cca.2		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Unknown(1)|Substitution - coding silent(1)	p.?(1)	lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(1741-1743)TTC>TTT		tuberous sclerosis 1 protein isoform 1							61.0	67.0	65.0					9																	135781222		2203	4300	6503	SO:0001819	synonymous_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781222G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1743C>T	9.37:g.135781222G>A						TSC1_uc004ccb.3_Silent_p.F580F|TSC1_uc011mcq.1_Silent_p.F530F|TSC1_uc011mcr.1_Intron	p.F581F	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	1977	-			581					B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	c.1743C>T	CCDS6956.1																																																																																				0.537	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			9	22	0	0	0	0.006214	0	9	22				
QSOX2	169714	broad.mit.edu	37	9	139107123	139107123	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:139107123T>C	ENST00000358701.5	-	10	1274	c.1237A>G	c.(1237-1239)Ata>Gta	p.I413V		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	413					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.I413V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACCCACTTTATGTGATTAGTA	0.393																																							uc010nbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)ATA>GTA		quiescin Q6 sulfhydryl oxidase 2 precursor							79.0	70.0	73.0					9																	139107123		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139107123T>C	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1237A>G	9.37:g.139107123T>C	ENSP00000351536:p.Ile413Val						p.I413V	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	10	1275	-		Myeloproliferative disorder(178;0.0511)	413					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1237A>G	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.188|0.188	-1.055626|-1.055626	0.01965|0.01965	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000455222|ENST00000358701;ENST00000389471	T|T	0.18338|0.18338	2.22|2.22	4.78|4.78	-1.55|-1.55	0.08558|0.08558	.|Erv1/Alr (1);	.|0.590041	.|0.18074	.|N	.|0.152511	T|T	0.05273|0.05273	0.0140|0.0140	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.41893|0.41893	-0.9483|-0.9483	7|10	0.23302|0.02654	T|T	0.38|1	-3.9824|-3.9824	10.7498|10.7498	0.46203|0.46203	0.0:0.471:0.0:0.529|0.0:0.471:0.0:0.529	.|.	.|413	.|Q6ZRP7	.|QSOX2_HUMAN	R|V	180|413;212	ENSP00000389089:H180R|ENSP00000351536:I413V	ENSP00000389089:H180R|ENSP00000351536:I413V	H|I	-|-	2|1	0|0	QSOX2|QSOX2	138246944|138246944	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.942000|0.942000	0.58702|0.58702	-0.560000|-0.560000	0.05964|0.05964	-0.197000|-0.197000	0.10350|0.10350	0.528000|0.528000	0.53228|0.53228	CAT|ATA		0.393	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		16	9	0	0	0	0.00499	0	16	9				
TUBBP5	643224	broad.mit.edu	37	9	141071195	141071195	+	RNA	SNP	C	C	T	rs185655233	byFrequency	TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:141071195C>T	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P272S(2)									TGGCTTTGCCCCACTGACCAG	0.622																																							uc004com.2		NA																	2	Substitution - Missense(2)		endometrium(2)		0						c.(598-600)CCA>TCA		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071195C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071195C>T						TUBBP5_uc010ncq.2_3'UTR	p.P200S							4	859	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.598C>T																																																																																					0.622	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		13	49	0	0	0	0.00245	0	13	49				
CSF2RA	1438	broad.mit.edu	37	X	1419441	1419441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:1419441G>T	ENST00000381524.3	+	10	1054	c.868G>T	c.(868-870)Gca>Tca	p.A290S	CSF2RA_ENST00000361536.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A290S|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A290S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A290S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A290S|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.A157S|CSF2RA_ENST00000355805.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	290	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A290S(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGAGCCCAGAGCAAAACACAG	0.443																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(868-870)GCA>TCA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						135.0	130.0	132.0					X																	1419441		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1419441G>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.868G>T	X.37:g.1419441G>T	ENSP00000370935:p.Ala290Ser					CSF2RA_uc011mhb.1_Missense_Mutation_p.A290S|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.A290S|CSF2RA_uc004cpo.2_Missense_Mutation_p.A290S|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.A157S|CSF2RA_uc004cpp.2_Missense_Mutation_p.A290S|CSF2RA_uc010ncv.2_Missense_Mutation_p.A290S|CSF2RA_uc004cpr.2_Missense_Mutation_p.A290S	p.A290S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			11	1190	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	290			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.868G>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.289665	0.23478	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	2.215170	0.03444	N	0.209687	D	0.83348	0.5235	.	.	.	0.09310	N	1	P;D;P;D;P	0.62365	0.625;0.985;0.81;0.991;0.956	B;B;B;P;P	0.50405	0.406;0.437;0.331;0.64;0.549	T	0.70502	-0.4854	9	0.33141	T	0.24	.	4.9167	0.13849	0.0:0.0:1.0:0.0	.	290;290;290;290;290	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	S	290;290;290;157;290;290;290;290;290	ENSP00000370940:A290S;ENSP00000416437:A290S;ENSP00000354836:A290S;ENSP00000440491:A157S;ENSP00000370935:A290S;ENSP00000370920:A290S;ENSP00000347606:A290S;ENSP00000394227:A290S;ENSP00000370911:A290S	ENSP00000347606:A290S	A	+	1	0	CSF2RA	1379441	0.003000	0.15002	0.047000	0.18901	0.111000	0.19643	-0.125000	0.10579	0.745000	0.32763	0.100000	0.15512	GCA		0.443	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			24	53	1	0	1.10513e-12	0.002299	1.54918e-12	24	53				
MXRA5	25878	broad.mit.edu	37	X	3229560	3229560	+	Silent	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:3229560A>T	ENST00000217939.6	-	7	6838	c.6684T>A	c.(6682-6684)ggT>ggA	p.G2228G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2228	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)		p.G2228G(2)		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)				CGTAGTCATCACCAACCTTAT	0.498																																							uc004crg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6682-6684)GGT>GGA		adlican precursor							89.0	82.0	84.0					X																	3229560		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229560A>T	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.6684T>A	X.37:g.3229560A>T							p.G2228G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	6841	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2228			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6684T>A	CCDS14124.1																																																																																				0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		35	9	0	0	0	0.004878	0	35	9				
ARHGAP6	395	broad.mit.edu	37	X	11682515	11682515	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:11682515C>A	ENST00000337414.4	-	1	1306	c.434G>T	c.(433-435)gGg>gTg	p.G145V	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.G145V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.G145V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	145					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.G145V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACTGGCTGGCCCGGCCAGGAC	0.617																																							uc004cup.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(433-435)GGG>GTG		Rho GTPase activating protein 6 isoform 1							21.0	23.0	22.0					X																	11682515		2201	4300	6501	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682515C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.434G>T	X.37:g.11682515C>A	ENSP00000338967:p.Gly145Val					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.G145V	p.G145V	NM_013427	NP_038286	O43182	RHG06_HUMAN			1	1307	-			145					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.434G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172139	0.21704	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.30981	1.65;1.52;1.51	4.44	3.54	0.40534	.	0.719020	0.10898	U	0.621928	T	0.20981	0.0505	N	0.19112	0.55	0.32169	N	0.581949	B;B	0.25563	0.129;0.079	B;B	0.23419	0.046;0.037	T	0.16778	-1.0391	10	0.62326	D	0.03	.	9.4496	0.38719	0.0:0.79:0.21:0.0	.	145;145	O43182-2;O43182	.;RHG06_HUMAN	V	145	ENSP00000338967:G145V;ENSP00000370094:G145V;ENSP00000370108:G145V	ENSP00000338967:G145V	G	-	2	0	ARHGAP6	11592436	0.254000	0.23992	0.037000	0.18230	0.003000	0.03518	2.908000	0.48750	2.062000	0.61559	0.600000	0.82982	GGG		0.617	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		15	0	1	0	7.93312e-07	0.00245	9.54742e-07	15	0				
TLR7	51284	broad.mit.edu	37	X	12904999	12904999	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:12904999C>A	ENST00000380659.3	+	3	1511	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	458					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.Q458K(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTATGAACCCCAGGTCCTGGA	0.368																																							uc004cvc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1372-1374)CAG>AAG		toll-like receptor 7 precursor	Imiquimod(DB00724)						74.0	79.0	77.0					X																	12904999		2199	4294	6493	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904999C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1372C>A	X.37:g.12904999C>A	ENSP00000370034:p.Gln458Lys						p.Q458K	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1511	+			458			Extracellular (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1372C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.633444	0.00806	.	.	ENSG00000196664	ENST00000380659	T	0.39229	1.09	5.84	5.84	0.93424	.	0.587434	0.18017	N	0.154360	T	0.37598	0.1009	L	0.56396	1.775	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.18461	-1.0336	10	0.32370	T	0.25	.	8.4081	0.32627	0.155:0.7664:0.0:0.0786	.	458	Q9NYK1	TLR7_HUMAN	K	458	ENSP00000370034:Q458K	ENSP00000370034:Q458K	Q	+	1	0	TLR7	12814920	0.023000	0.18921	0.022000	0.16811	0.006000	0.05464	2.115000	0.41921	2.469000	0.83416	0.600000	0.82982	CAG		0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		68	14	1	0	7.75977e-34	0.00361	1.42569e-33	68	14				
POLA1	5422	broad.mit.edu	37	X	24767091	24767091	+	Silent	SNP	G	G	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:24767091G>A	ENST00000379059.3	+	26	2943	c.2928G>A	c.(2926-2928)gtG>gtA	p.V976V	POLA1_ENST00000379068.3_Silent_p.V982V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	976					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.V976V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CTGCCTTGGTGACATACAAAG	0.408																																							uc004dbl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2926-2928)GTG>GTA		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						112.0	88.0	96.0					X																	24767091		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24767091G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2928G>A	X.37:g.24767091G>A							p.V976V	NM_016937	NP_058633	P09884	DPOLA_HUMAN			26	2951	+			976					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.2928G>A	CCDS14214.1																																																																																				0.408	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		27	9	0	0	0	0.007291	0	27	9				
FAM47B	170062	broad.mit.edu	37	X	34962075	34962075	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:34962075A>T	ENST00000329357.5	+	1	1163	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	376								p.K376M(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAACTCACCAAGCCTGGTAAA	0.537																																							uc004ddi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1126-1128)AAG>ATG		hypothetical protein LOC170062							45.0	43.0	43.0					X																	34962075		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962075A>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1127A>T	X.37:g.34962075A>T	ENSP00000328307:p.Lys376Met						p.K376M	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1145	+			376					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1127A>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795333	0.31777	.	.	ENSG00000189132	ENST00000329357	T	0.14516	2.5	0.719	0.719	0.18208	.	.	.	.	.	T	0.19208	0.0461	L	0.39898	1.24	0.09310	N	1	D	0.57571	0.98	P	0.56514	0.8	T	0.11665	-1.0578	8	0.59425	D	0.04	.	.	.	.	.	376	Q8NA70	FA47B_HUMAN	M	376	ENSP00000328307:K376M	ENSP00000328307:K376M	K	+	2	0	FAM47B	34871996	0.014000	0.17966	0.002000	0.10522	0.004000	0.04260	-0.221000	0.09202	0.516000	0.28340	0.381000	0.24937	AAG		0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		23	4	0	0	0	0.00278	0	23	4				
ZNF81	347344	broad.mit.edu	37	X	47775357	47775357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:47775357G>T	ENST00000376954.1	+	6	1680	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.G438*			P51508	ZNF81_HUMAN	zinc finger protein 81	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G438*(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AATTCATACAGGAGAGAGGTC	0.433																																							uc010nhy.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1312-1314)GGA>TGA		zinc finger protein 81							47.0	46.0	46.0					X																	47775357		2200	4298	6498	SO:0001587	stop_gained	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775357G>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1312G>T	X.37:g.47775357G>T	ENSP00000366153:p.Gly438*						p.G438*	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1680	+		all_lung(315;0.0973)	438					Q6RX22|Q96QH6	Nonsense_Mutation	SNP	ENST00000376954.1	37	c.1312G>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	38	6.855250	0.97889	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	.	.	.	4.07	4.07	0.47477	.	0.000000	0.42420	D	0.000708	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.2059	0.59795	0.0:0.0:1.0:0.0	.	.	.	.	X	438	.	ENSP00000341151:G438X	G	+	1	0	ZNF81	47660301	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.443000	0.52907	2.278000	0.76064	0.600000	0.82982	GGA		0.433	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		28	5	1	0	4.87955e-14	0.005443	7.11315e-14	28	5				
CDX4	1046	broad.mit.edu	37	X	72667443	72667443	+	Silent	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:72667443T>C	ENST00000373514.2	+	1	354	c.354T>C	c.(352-354)ccT>ccC	p.P118P		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	118					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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.P118P(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACTTGGGCCCTGTGGGCGGTG	0.662																																							uc011mqk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)CCT>CCC		caudal type homeobox 4							21.0	20.0	20.0					X																	72667443		2203	4298	6501	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667443T>C	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.354T>C	X.37:g.72667443T>C							p.P118P	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	354	+	Renal(35;0.156)		118					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.354T>C	CCDS14424.1																																																																																				0.662	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		8	3	0	0	0	0.008291	0	8	3				
TBX22	50945	broad.mit.edu	37	X	79282284	79282284	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:79282284C>G	ENST00000373294.5	+	5	743	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	TBX22_ENST00000373291.1_Missense_Mutation_p.Q119E|TBX22_ENST00000442340.1_Missense_Mutation_p.Q119E|TBX22_ENST00000373296.3_Missense_Mutation_p.Q239E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	239					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q239E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCCCAGATTCAGTCCTTGCC	0.448																																							uc010nmg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(715-717)CAG>GAG		T-box 22 isoform 1							159.0	122.0	134.0					X																	79282284		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282284C>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.715C>G	X.37:g.79282284C>G	ENSP00000362390:p.Gln239Glu					TBX22_uc004edi.1_Missense_Mutation_p.Q119E|TBX22_uc004edj.1_Missense_Mutation_p.Q239E	p.Q239E	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	849	+			239			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.715C>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	2.001	-0.429516	0.04701	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.86366	-2.11;-1.83;-2.11;-1.83	3.88	3.0	0.34707	p53-like transcription factor, DNA-binding (1);	0.222920	0.29438	N	0.012144	T	0.76758	0.4032	N	0.20685	0.6	0.36113	D	0.844962	B	0.15141	0.012	B	0.16722	0.016	T	0.71427	-0.4596	10	0.25106	T	0.35	.	11.7998	0.52120	0.0:0.8261:0.1739:0.0	.	239	Q9Y458	TBX22_HUMAN	E	239;119;239;119	ENSP00000362393:Q239E;ENSP00000396394:Q119E;ENSP00000362390:Q239E;ENSP00000362388:Q119E	ENSP00000362388:Q119E	Q	+	1	0	TBX22	79168940	1.000000	0.71417	0.972000	0.41901	0.034000	0.12701	1.414000	0.34736	0.763000	0.33175	0.600000	0.82982	CAG		0.448	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		32	5	0	0	0	0.010818	0	32	5				
BRWD3	254065	broad.mit.edu	37	X	79936987	79936987	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:79936987C>A	ENST00000373275.4	-	40	4723	c.4507G>T	c.(4507-4509)Gct>Tct	p.A1503S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1503					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A1503S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGCCCTTCAGCAGCATCTGAA	0.368																																							uc004edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4507-4509)GCT>TCT		bromodomain and WD repeat domain containing 3							68.0	61.0	63.0					X																	79936987		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79936987C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4507G>T	X.37:g.79936987C>A	ENSP00000362372:p.Ala1503Ser					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.A1099S|BRWD3_uc004edp.2_Missense_Mutation_p.A1332S|BRWD3_uc004edq.2_Missense_Mutation_p.A1099S|BRWD3_uc010nmj.1_Missense_Mutation_p.A1099S|BRWD3_uc004edr.2_Missense_Mutation_p.A1173S|BRWD3_uc004eds.2_Missense_Mutation_p.A1099S|BRWD3_uc004edu.2_Missense_Mutation_p.A1173S|BRWD3_uc004edv.2_Missense_Mutation_p.A1099S|BRWD3_uc004edw.2_Missense_Mutation_p.A1099S|BRWD3_uc004edx.2_Missense_Mutation_p.A1099S|BRWD3_uc004edy.2_Missense_Mutation_p.A1099S|BRWD3_uc004edz.2_Missense_Mutation_p.A1173S|BRWD3_uc004eea.2_Missense_Mutation_p.A1173S|BRWD3_uc004eeb.2_Missense_Mutation_p.A1099S	p.A1503S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			40	4770	-			1503					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4507G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642373	0.29246	.	.	ENSG00000165288	ENST00000373275	T	0.54866	0.55	4.3	3.43	0.39272	.	0.623171	0.16218	N	0.224171	T	0.35098	0.0920	L	0.27053	0.805	0.26085	N	0.981034	B	0.20261	0.043	B	0.18871	0.023	T	0.17440	-1.0369	9	.	.	.	-8.2369	7.3139	0.26489	0.0:0.7134:0.0:0.2866	.	1503	Q6RI45	BRWD3_HUMAN	S	1503	ENSP00000362372:A1503S	.	A	-	1	0	BRWD3	79823643	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.609000	0.36858	0.926000	0.37118	-0.458000	0.05436	GCT		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		40	9	1	0	1.67305e-13	0.00623	2.38842e-13	40	9				
HDX	139324	broad.mit.edu	37	X	83591885	83591885	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:83591885T>C	ENST00000297977.5	-	7	1775	c.1664A>G	c.(1663-1665)gAg>gGg	p.E555G	HDX_ENST00000373177.2_Missense_Mutation_p.E555G|HDX_ENST00000506585.2_Missense_Mutation_p.E497G	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	555						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E555G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCATTGGGCTCTTCTACAGA	0.323																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1663-1665)GAG>GGG		highly divergent homeobox							77.0	65.0	69.0					X																	83591885		2202	4297	6499	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83591885T>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1664A>G	X.37:g.83591885T>C	ENSP00000297977:p.Glu555Gly					HDX_uc011mqv.1_Missense_Mutation_p.E555G|HDX_uc004eel.1_Missense_Mutation_p.E497G	p.E555G	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			7	1773	-			555					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1664A>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021179	0.54576	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.34667	1.38;1.35;1.38	5.33	5.33	0.75918	.	0.385546	0.28883	N	0.013837	T	0.29093	0.0723	L	0.29908	0.895	0.53688	D	0.999973	P	0.34522	0.455	B	0.34722	0.188	T	0.09997	-1.0649	10	0.51188	T	0.08	-9.9982	13.1449	0.59456	0.0:0.0:0.0:1.0	.	555	Q7Z353	HDX_HUMAN	G	555;497;555	ENSP00000297977:E555G;ENSP00000362272:E497G;ENSP00000423670:E555G	ENSP00000297977:E555G	E	-	2	0	HDX	83478541	1.000000	0.71417	0.949000	0.38748	0.567000	0.35839	4.668000	0.61568	1.887000	0.54652	0.409000	0.27619	GAG		0.323	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		16	1	0	0	0	0.006122	0	16	1				
CHM	1121	broad.mit.edu	37	X	85233835	85233835	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:85233835C>G	ENST00000357749.2	-	4	279	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	CHM_ENST00000358786.4_Missense_Mutation_p.E84Q|CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	84					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.E84Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GCAATGGCTTCTTCATTTTCA	0.363																																							uc004eet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)GAA>CAA		choroideremia isoform a							128.0	104.0	112.0					X																	85233835		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85233835C>G	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.250G>C	X.37:g.85233835C>G	ENSP00000350386:p.Glu84Gln					CHM_uc011mqz.1_Intron|CHM_uc004eeu.3_RNA|CHM_uc004eev.3_Missense_Mutation_p.E84Q	p.E84Q	NM_000390	NP_000381	P24386	RAE1_HUMAN			4	280	-		all_lung(315;5.41e-06)	84					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.250G>C	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832327	0.71258	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	T;T	0.61859	0.07;0.07	5.27	5.27	0.74061	.	0.047218	0.85682	D	0.000000	T	0.69904	0.3163	M	0.62266	1.93	0.80722	D	1	D;P	0.71674	0.998;0.898	D;P	0.70935	0.971;0.487	T	0.65784	-0.6084	10	0.15499	T	0.54	-16.4873	14.6719	0.68951	0.0:1.0:0.0:0.0	.	84;84	A1L4D2;P24386	.;RAE1_HUMAN	Q	84	ENSP00000350386:E84Q;ENSP00000362228:E84Q	ENSP00000350386:E84Q	E	-	1	0	CHM	85120491	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.474000	0.60203	2.162000	0.67917	0.506000	0.49869	GAA		0.363	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		40	7	0	0	0	0.00874	0	40	7				
TGIF2LX	90316	broad.mit.edu	37	X	89177268	89177268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:89177268G>T	ENST00000561129.2	+	1	314	c.184G>T	c.(184-186)Gtt>Ttt	p.V62F	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.V62F			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V62F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGCCGAGTCCGTTAAGATCCT	0.468																																							uc004efe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(184-186)GTT>TTT		TGFB-induced factor homeobox 2-like, X-linked							39.0	36.0	37.0					X																	89177268		2201	4278	6479	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177268G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.184G>T	X.37:g.89177268G>T	ENSP00000453704:p.Val62Phe						p.V62F	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	233	+			62			Homeobox; TALE-type.		Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.184G>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900382	0.33535	.	.	ENSG00000153779	ENST00000283891	D	0.84589	-1.87	2.57	2.57	0.30868	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.806631	0.10195	N	0.704104	D	0.90242	0.6949	M	0.65975	2.015	0.51233	D	0.999919	D	0.89917	1.0	D	0.73380	0.98	D	0.87155	0.2211	9	.	.	.	-3.3454	10.4311	0.44409	0.0:0.0:1.0:0.0	.	62	Q8IUE1	TF2LX_HUMAN	F	62	ENSP00000355119:V62F	.	V	+	1	0	TGIF2LX	89063924	1.000000	0.71417	0.107000	0.21349	0.020000	0.10135	6.648000	0.74359	1.569000	0.49696	0.513000	0.50165	GTT		0.468	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		44	2	1	0	1.46156e-29	0.00361	2.6232e-29	44	2				
DCAF12L2	340578	broad.mit.edu	37	X	125299759	125299759	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:125299759C>A	ENST00000360028.2	-	1	175	c.149G>T	c.(148-150)aGg>aTg	p.R50M	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R50M			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	50								p.R50M(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTGCACCAGCCTGCGACGCGT	0.726																																							uc004euk.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(148-150)AGG>ATG		DDB1 and CUL4 associated factor 12-like 2							13.0	17.0	15.0					X																	125299759		1919	3872	5791	SO:0001583	missense	340578							g.chrX:125299759C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.149G>T	X.37:g.125299759C>A	ENSP00000353128:p.Arg50Met						p.R50M	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	176	-			50					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.149G>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	18.11	3.551003	0.65311	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.17528	2.27;2.27	3.11	2.23	0.28157	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.28573	N	0.910524	B	0.18610	0.029	B	0.08055	0.003	T	0.19877	-1.0292	9	0.87932	D	0	.	9.2714	0.37673	0.0:0.2313:0.7686:0.0	.	50	Q5VW00	DC122_HUMAN	M	50	ENSP00000441489:R50M;ENSP00000353128:R50M	ENSP00000353128:R50M	R	-	2	0	DCAF12L2	125127440	0.752000	0.28338	0.002000	0.10522	0.806000	0.45545	1.689000	0.37700	0.701000	0.31803	0.287000	0.19450	AGG		0.726	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		20	3	1	0	6.33239e-15	0.010504	9.52158e-15	20	3				
ZNF449	203523	broad.mit.edu	37	X	134494750	134494750	+	Silent	SNP	A	A	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134494750A>C	ENST00000339249.4	+	5	1446	c.1306A>C	c.(1306-1308)Aga>Cga	p.R436R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	436					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R436R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACCTCATAGATGTCATAA	0.353																																							uc004eys.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1306-1308)AGA>CGA		zinc finger protein 449							79.0	82.0	81.0					X																	134494750		2203	4299	6502	SO:0001819	synonymous_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494750A>C	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1306A>C	X.37:g.134494750A>C						ZNF449_uc004eyt.2_Silent_p.R316R|ZNF449_uc004eyu.2_Silent_p.R242R	p.R436R	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			5	1471	+	Acute lymphoblastic leukemia(192;6.56e-05)		436			C2H2-type 5.		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	c.1306A>C	CCDS14649.1																																																																																				0.353	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		50	16	0	0	0	0.00361	0	50	16				
DDX26B	203522	broad.mit.edu	37	X	134655006	134655006	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134655006G>T	ENST00000370752.4	+	1	423	c.89G>T	c.(88-90)gGc>gTc	p.G30V	DDX26B-AS1_ENST00000430820.1_RNA|DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	30	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.G30V(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCAAAGGCGCTGTGGAG	0.552																																							uc004eyw.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(88-90)GGC>GTC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							110.0	106.0	107.0					X																	134655006		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134655006G>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.89G>T	X.37:g.134655006G>T	ENSP00000359788:p.Gly30Val						p.G30V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			1	452	+	Acute lymphoblastic leukemia(192;6.56e-05)		30			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.89G>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526301	0.64860	.	.	ENSG00000165359	ENST00000370752	T	0.13420	2.59	4.58	2.72	0.32119	von Willebrand factor, type A (2);	0.152406	0.64402	D	0.000017	T	0.35537	0.0935	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.07578	-1.0765	10	0.49607	T	0.09	-5.3664	7.7877	0.29101	0.1032:0.1666:0.7302:0.0	.	30	Q5JSJ4	DX26B_HUMAN	V	30	ENSP00000359788:G30V	ENSP00000359788:G30V	G	+	2	0	DDX26B	134482672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.290000	0.78711	0.828000	0.34709	-0.343000	0.07986	GGC		0.552	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		64	10	1	0	1.17253e-29	0.00361	2.11055e-29	64	10				
DDX26B	203522	broad.mit.edu	37	X	134709151	134709151	+	Splice_Site	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:134709151G>C	ENST00000370752.4	+	13	2107	c.1773G>C	c.(1771-1773)aaG>aaC	p.K591N	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	591								p.K591N(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATAAGAAGGTAGGATACC	0.368																																							uc004eyw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1771-1773)AAG>AAC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							135.0	123.0	127.0					X																	134709151		2203	4300	6503	SO:0001630	splice_region_variant	203522							g.chrX:134709151G>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1773+1G>C	X.37:g.134709151G>C						DDX26B_uc004eyx.3_Missense_Mutation_p.K192N	p.K591N	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			13	2136	+	Acute lymphoblastic leukemia(192;6.56e-05)		591					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1773G>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531711	0.85706	.	.	ENSG00000165359	ENST00000370752	T	0.49432	0.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	L	0.52573	1.65	0.80722	D	1	D;P	0.76494	0.999;0.938	D;P	0.83275	0.996;0.695	T	0.61898	-0.6968	10	0.41790	T	0.15	-12.9037	17.9104	0.88932	0.0:0.0:1.0:0.0	.	591;591	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	N	591	ENSP00000359788:K591N	ENSP00000359788:K591N	K	+	3	2	DDX26B	134536817	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.800000	0.99124	2.449000	0.82847	0.594000	0.82650	AAG		0.368	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Missense_Mutation	64	13	0	0	0	0.00361	0	64	13				
GPR112	139378	broad.mit.edu	37	X	135485469	135485469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:135485469C>A	ENST00000394143.1	+	22	8933	c.8642C>A	c.(8641-8643)cCa>cAa	p.P2881Q	GPR112_ENST00000370652.1_Missense_Mutation_p.P2881Q|GPR112_ENST00000287534.4_Missense_Mutation_p.P2634Q|GPR112_ENST00000394141.1_Missense_Mutation_p.P2676Q|GPR112_ENST00000412101.1_Missense_Mutation_p.P2676Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2881					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P2881Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAGCCCAACAACTCCG	0.488																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8641-8643)CCA>CAA		G-protein coupled receptor 112							127.0	86.0	100.0					X																	135485469		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485469C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8642C>A	X.37:g.135485469C>A	ENSP00000377699:p.Pro2881Gln					GPR112_uc010nsb.1_Missense_Mutation_p.P2676Q	p.P2881Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			22	8933	+	Acute lymphoblastic leukemia(192;0.000127)		2881			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8642C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	0.999	-0.691436	0.03303	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.67	5.67	0.87782	GPCR, family 2-like (1);	.	.	.	.	T	0.27697	0.0681	L	0.27053	0.805	0.09310	N	1	B;B	0.18013	0.025;0.003	B;B	0.27608	0.024;0.081	T	0.14364	-1.0475	9	0.28530	T	0.3	.	9.8035	0.40779	0.0:0.9047:0.0:0.0953	.	2676;2881	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	2881;2881;2676;2634;2676	ENSP00000377699:P2881Q;ENSP00000359686:P2881Q;ENSP00000416526:P2676Q;ENSP00000287534:P2634Q;ENSP00000377697:P2676Q	ENSP00000287534:P2634Q	P	+	2	0	GPR112	135313135	0.017000	0.18338	0.023000	0.16930	0.050000	0.14768	2.576000	0.46033	2.517000	0.84864	0.600000	0.82982	CCA		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	5	1	0	0.00307968	0.00308	0.00325252	8	5				
GPR112	139378	broad.mit.edu	37	X	135485479	135485479	+	Silent	SNP	G	G	A	rs376207279		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:135485479G>A	ENST00000394143.1	+	22	8943	c.8652G>A	c.(8650-8652)ccG>ccA	p.P2884P	GPR112_ENST00000370652.1_Silent_p.P2884P|GPR112_ENST00000287534.4_Silent_p.P2637P|GPR112_ENST00000394141.1_Silent_p.P2679P|GPR112_ENST00000412101.1_Silent_p.P2679P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2884					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P2884P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAACTCCGTTGTAAGTAC	0.498													g|||	1	0.000264901	0.0	0.0014	3775	,	,		14943	0.0		0.0	False		,,,				2504	0.0						uc004ezu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8650-8652)CCG>CCA		G-protein coupled receptor 112		G		0,3835		0,0,1632,571	112.0	75.0	88.0		8652	-8.1	0.0	X		88	1,6727		0,1,2427,1872	no	coding-synonymous	GPR112	NM_153834.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		2884/3081	135485479	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485479G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8652G>A	X.37:g.135485479G>A						GPR112_uc010nsb.1_Silent_p.P2679P	p.P2884P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			22	8943	+	Acute lymphoblastic leukemia(192;0.000127)		2884			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.8652G>A	CCDS35409.1																																																																																				0.498	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	4	0	0	0	0.001984	0	7	4				
SPRY3	10251	broad.mit.edu	37	X	155003584	155003584	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:155003584G>C	ENST00000302805.2	+	2	482	c.51G>C	c.(49-51)caG>caC	p.Q17H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	17					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q17H(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTATTGAACAGCTGCGCTCTA	0.483																																							uc004fnq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CAG>CAC		sprouty homolog 3							218.0	213.0	214.0					X																	155003584		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003584G>C	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.51G>C	X.37:g.155003584G>C	ENSP00000302978:p.Gln17His					SPRY3_uc010nvl.1_Missense_Mutation_p.Q17H	p.Q17H	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	505	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		17					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.51G>C	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317357	0.40996	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.68181	-0.31	3.14	2.25	0.28309	.	0.073236	0.56097	D	0.000030	T	0.73434	0.3586	.	.	.	0.09310	N	1	D;D	0.62365	0.991;0.972	D;P	0.69824	0.966;0.861	T	0.60782	-0.7195	9	0.87932	D	0	-6.3695	4.0754	0.09901	0.3151:0.0:0.6849:0.0	.	17;17	Q6ZUP3;O43610	.;SPY3_HUMAN	H	17	ENSP00000302978:Q17H	ENSP00000302978:Q17H	Q	+	3	2	SPRY3	154656778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.271000	0.43364	1.593000	0.50029	0.279000	0.19357	CAG		0.483	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		35	72	0	0	0	0.003271	0	35	72				
HFM1	164045	broad.mit.edu	37	1	91841140	91841141	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr1:91841140_91841141delTG	ENST00000370425.3	-	12	1637_1638	c.1539_1540delCA	c.(1537-1542)ctcaacfs	p.N514fs	HFM1_ENST00000370424.3_Frame_Shift_Del_p.N193fs|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	514					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTTGTAGTTGAGGGTTAAAT	0.356																																							uc001doa.3		NA																	0					0						c.(1537-1542)CTCAACfs		HFM1 protein																																				SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91841140_91841141delTG	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1539_1540delCA	1.37:g.91841140_91841141delTG	ENSP00000359454:p.Asn514fs					HFM1_uc010osu.1_Frame_Shift_Del_p.L192fs|HFM1_uc010osv.1_Frame_Shift_Del_p.L197fs	p.L513fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	12	1639_1640	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	513_514					B1B0B6|Q8N9Q0	Frame_Shift_Del	DEL	ENST00000370425.3	37	c.1539_1540delCA	CCDS30769.2																																																																																				0.356	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	65	NA	NA	NA	NA	NA	22	65	---	---	---	---
SFTPA2	729238	broad.mit.edu	37	10	81319205	81319205	+	Frame_Shift_Del	DEL	A	A	-	rs72659394		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:81319205delA	ENST00000372325.2	-	3	119	c.35delT	c.(34-36)ttgfs	p.L12fs	SFTPA2_ENST00000372327.5_Frame_Shift_Del_p.L12fs	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	12			L -> W. {ECO:0000269|PubMed:19100526}.		respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGCTGCCATCAAGATGAGGGT	0.647									Pulmonary Fibrosis, Idiopathic																														uc001kal.3		NA																	0					0						c.(34-36)TTGfs		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							129.0	92.0	104.0					10																	81319205		2203	4296	6499	SO:0001589	frameshift_variant	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319205delA		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.35delT	10.37:g.81319205delA	ENSP00000361400:p.Leu12fs					SFTPA2_uc001kan.3_Frame_Shift_Del_p.L12fs|SFTPA2_uc001kam.2_RNA	p.L12fs	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	132	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		12		L -> W.			A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Frame_Shift_Del	DEL	ENST00000372325.2	37	c.35delT	CCDS41540.1																																																																																				0.647	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		16	35	NA	NA	NA	NA	NA	16	35	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81371615	81371615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr10:81371615delT	ENST00000398636.3	+	3	172	c.34delT	c.(34-36)ttgfs	p.L12fs	SFTPA1_ENST00000419470.2_Frame_Shift_Del_p.L27fs|SFTPA1_ENST00000428376.2_Frame_Shift_Del_p.L12fs|SFTPA1_ENST00000372308.3_Frame_Shift_Del_p.L12fs|SFTPA1_ENST00000372313.5_Intron	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	12					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAACCTCATCTTGATGGCAGC	0.632																																							uc001kap.2		NA																	0					0						c.(34-36)TTGfs		surfactant protein A1 isoform 1							225.0	214.0	218.0					10																	81371615		2203	4296	6499	SO:0001589	frameshift_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371615delT	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.34delT	10.37:g.81371615delT	ENSP00000381633:p.Leu12fs					SFTPA1_uc001kao.2_RNA|SFTPA1_uc001kaq.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc009xry.2_Frame_Shift_Del_p.L27fs|SFTPA1_uc001kar.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc010qlt.1_Intron|SFTPA1_uc009xrz.2_Frame_Shift_Del_p.L22fs|SFTPA1_uc009xsa.2_Frame_Shift_Del_p.L12fs|SFTPA1_uc009xsf.2_5'Flank	p.L12fs	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	155	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		12					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Frame_Shift_Del	DEL	ENST00000398636.3	37	c.34delT	CCDS44445.1																																																																																				0.632	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		23	212	NA	NA	NA	NA	NA	23	212	---	---	---	---
BSX	390259	broad.mit.edu	37	11	122850161	122850161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr11:122850161delC	ENST00000343035.2	-	2	315	c.267delG	c.(265-267)atgfs	p.M89fs		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	89					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTGGGACTGGCATCCCTGCAG	0.682																																							uc010rzs.1		NA																	0					0						c.(265-267)ATGfs		brain specific homeobox							22.0	27.0	25.0					11																	122850161		2001	4173	6174	SO:0001589	frameshift_variant	390259							g.chr11:122850161delC		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.267delG	11.37:g.122850161delC	ENSP00000344285:p.Met89fs						p.M89fs	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	267	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	89						Frame_Shift_Del	DEL	ENST00000343035.2	37	c.267delG	CCDS41728.1																																																																																				0.682	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		36	18	NA	NA	NA	NA	NA	36	18	---	---	---	---
HOXC4	3221	broad.mit.edu	37	12	54448073	54448073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr12:54448073delG	ENST00000430889.2	+	1	413	c.367delG	c.(367-369)gacfs	p.D123fs	HOXC4_ENST00000303406.4_Frame_Shift_Del_p.D123fs|HOXC4_ENST00000609810.1_Frame_Shift_Del_p.D123fs	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	123					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GCCAGCCCCCGACCATCCCTC	0.642																																							uc001seu.2		NA																	0				ovary(1)	1						c.(367-369)GACfs		homeobox C4							20.0	20.0	20.0					12																	54448073		2200	4298	6498	SO:0001589	frameshift_variant	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448073delG		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.367delG	12.37:g.54448073delG	ENSP00000399808:p.Asp123fs					HOXC4_uc001sex.2_Frame_Shift_Del_p.D123fs	p.D123fs	NM_014620	NP_055435	P09017	HXC4_HUMAN			3	1047	+			123						Frame_Shift_Del	DEL	ENST00000430889.2	37	c.367delG	CCDS8873.1																																																																																				0.642	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			13	3	NA	NA	NA	NA	NA	13	3	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36385037	36385037	+	Frame_Shift_Del	DEL	G	G	-	rs546251748		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:36385037delG	ENST00000360631.3	-	12	1834	c.1623delC	c.(1621-1623)gacfs	p.D541fs	DCLK1_ENST00000379893.1_Frame_Shift_Del_p.D234fs|DCLK1_ENST00000255448.4_Frame_Shift_Del_p.D541fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACAGGGGGCCGTCTACAATGG	0.463																																							uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(1621-1623)GACfs		doublecortin-like kinase 1							167.0	160.0	163.0					13																	36385037		2203	4300	6503	SO:0001589	frameshift_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36385037delG	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1623delC	13.37:g.36385037delG	ENSP00000353846:p.Asp541fs					DCLK1_uc001uve.3_Frame_Shift_Del_p.D234fs|DCLK1_uc010teh.1_Frame_Shift_Del_p.D234fs|DCLK1_uc010abk.2_Frame_Shift_Del_p.D61fs	p.D541fs	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	12	1856	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	541			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Del	DEL	ENST00000360631.3	37	c.1623delC																																																																																					0.463	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		42	107	NA	NA	NA	NA	NA	42	107	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46726995	46726995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr13:46726995delT	ENST00000398576.2	-	10	1047	c.659delA	c.(658-660)aagfs	p.K220fs	LCP1_ENST00000323076.2_Frame_Shift_Del_p.K220fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	220	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CAGATAAGGCTTCCCCTCCTT	0.502			T	BCL6	NHL																																		uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(658-660)AAGfs		L-plastin							98.0	88.0	91.0					13																	46726995		2203	4300	6503	SO:0001589	frameshift_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46726995delT	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.659delA	13.37:g.46726995delT	ENSP00000381581:p.Lys220fs					LCP1_uc001vba.3_Frame_Shift_Del_p.K220fs	p.K220fs	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	7	785	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	220			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Frame_Shift_Del	DEL	ENST00000398576.2	37	c.659delA	CCDS9403.1																																																																																				0.502	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		9	32	NA	NA	NA	NA	NA	9	32	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33015489	33015489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr14:33015489delC	ENST00000280979.4	+	4	1800	c.1630delC	c.(1630-1632)ccafs	p.P544fs	AKAP6_ENST00000557354.1_Frame_Shift_Del_p.P544fs|AKAP6_ENST00000557272.1_Frame_Shift_Del_p.P544fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	544					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATAGAGGGGCCACAAACAAA	0.453																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1630-1632)CCAfs		A-kinase anchor protein 6							63.0	67.0	66.0					14																	33015489		2203	4300	6503	SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015489delC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1630delC	14.37:g.33015489delC	ENSP00000280979:p.Pro544fs					AKAP6_uc010aml.2_Frame_Shift_Del_p.P541fs	p.P544fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1800	+	Breast(36;0.0388)|Prostate(35;0.15)		544					A7E242|A7E2D4|O15028	Frame_Shift_Del	DEL	ENST00000280979.4	37	c.1630delC	CCDS9644.1																																																																																				0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		87	15	NA	NA	NA	NA	NA	87	15	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98509171	98509172	+	Frame_Shift_Del	DEL	TG	TG	-	rs374602795		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr15:98509171_98509172delTG	ENST00000268042.6	+	3	585_586	c.421_422delTG	c.(421-423)tgtfs	p.C141fs	ARRDC4_ENST00000538249.1_Frame_Shift_Del_p.C54fs	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	141					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATTCAGTACTGTGTGCGGGCA	0.431																																							uc010bom.2		NA																	0					0						c.(421-423)TGTfs		arrestin domain containing 4																																				SO:0001589	frameshift_variant	91947				signal transduction			g.chr15:98509171_98509172delTG	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.421_422delTG	15.37:g.98509175_98509176delTG	ENSP00000268042:p.Cys141fs					ARRDC4_uc002bui.3_Frame_Shift_Del_p.C54fs	p.C141fs	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		3	580_581	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		141					Q6NSI9	Frame_Shift_Del	DEL	ENST00000268042.6	37	c.421_422delTG	CCDS10377.1																																																																																				0.431	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		25	58	NA	NA	NA	NA	NA	25	58	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21698946	21698947	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr16:21698946_21698947delGC	ENST00000286149.4	+	7	613_614	c.612_613delGC	c.(610-615)ctgcgcfs	p.R205fs	OTOA_ENST00000388958.3_Frame_Shift_Del_p.R205fs|OTOA_ENST00000388956.4_Frame_Shift_Del_p.R126fs			Q7RTW8	OTOAN_HUMAN	otoancorin	205					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.R205G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGGGACCTGCGCGAGGATGC	0.54																																							uc002djh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(610-615)CTGCGCfs		otoancorin isoform 1																																				SO:0001589	frameshift_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698946_21698947delGC	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.612_613delGC	16.37:g.21698948_21698949delGC	ENSP00000286149:p.Arg205fs					uc002diq.3_Intron|OTOA_uc010vbj.1_Frame_Shift_Del_p.L125fs	p.L204fs	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	613_614	+			204_205					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Frame_Shift_Del	DEL	ENST00000286149.4	37	c.612_613delGC																																																																																					0.540	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			11	24	NA	NA	NA	NA	NA	11	24	---	---	---	---
ZBTB14	7541	broad.mit.edu	37	18	5290892	5290892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr18:5290892delC	ENST00000357006.4	-	4	1653	c.1315delG	c.(1315-1317)gcafs	p.A439fs	ZBTB14_ENST00000400143.3_Frame_Shift_Del_p.A439fs	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	439					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										TGCTGTTCTGCTTCCGCAGCC	0.547																																							uc002kmq.2		NA																	0				ovary(1)	1						c.(1315-1317)GCAfs		zinc finger protein 161 homolog							90.0	76.0	81.0					18																	5290892		2203	4300	6503	SO:0001589	frameshift_variant	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5290892delC	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1315delG	18.37:g.5290892delC	ENSP00000349503:p.Ala439fs					ZFP161_uc002kmr.2_Frame_Shift_Del_p.A439fs|ZFP161_uc010dkp.2_Frame_Shift_Del_p.A439fs	p.A439fs	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	1476	-			439					O00403|Q2TB80	Frame_Shift_Del	DEL	ENST00000357006.4	37	c.1315delG	CCDS11837.1																																																																																				0.547	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		18	82	NA	NA	NA	NA	NA	18	82	---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69577211	69577211	+	Splice_Site	DEL	T	T	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:69577211delT	ENST00000357308.4	-	10	1022	c.844delA	c.(844-846)agt>gt	p.S282fs	GFPT1_ENST00000361060.5_Splice_Site_p.S264fs	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	282	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GAAGCTCACCTTGCATCAGAA	0.428																																							uc002sfh.2		NA																	0				skin(1)	1						c.(790-792)AGTfs		glucosamine-fructose-6-phosphate							88.0	81.0	83.0					2																	69577211		2203	4300	6503	SO:0001630	splice_region_variant	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69577211delT		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.845+1A>-	2.37:g.69577211delT						GFPT1_uc002sfi.1_3'UTR	p.S264fs	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			9	969	-			282			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Frame_Shift_Del	DEL	ENST00000357308.4	37	c.790delA	CCDS58713.1																																																																																				0.428	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Frame_Shift_Del	11	9	NA	NA	NA	NA	NA	11	9	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74166144	74166145	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:74166144_74166145insA	ENST00000264093.4	+	2	335_336	c.250_251insA	c.(250-252)caafs	p.Q84fs	DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Frame_Shift_Ins_p.Q84fs|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	84					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	TGCTGGCACCCAAAAAGTAAGT	0.416																																							uc002sjx.2		NA																	0					0						c.(250-252)CAAfs		deoxyguanosine kinase isoform a precursor																																				SO:0001589	frameshift_variant	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74166144_74166145insA	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.255dupA	2.37:g.74166149_74166149dupA	ENSP00000264093:p.Gln84fs					DGUOK_uc002sjy.2_Frame_Shift_Ins_p.Q84fs|DGUOK_uc002sjz.2_Intron	p.Q84fs	NM_080916	NP_550438	Q16854	DGUOK_HUMAN			2	335_336	+			84					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Frame_Shift_Ins	INS	ENST00000264093.4	37	c.250_251insA	CCDS1931.1																																																																																				0.416	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			15	46	NA	NA	NA	NA	NA	15	46	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105858804	105858804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:105858804delG	ENST00000258456.1	+	1	605	c.489delG	c.(487-489)gcgfs	p.A163fs		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCTGCATCGCGGGGCCCTCGC	0.697																																							uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(487-489)GCGfs		G protein-coupled receptor 45							26.0	27.0	27.0					2																	105858804		2202	4300	6502	SO:0001589	frameshift_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858804delG	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.489delG	2.37:g.105858804delG	ENSP00000258456:p.Ala163fs						p.A163fs	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	605	+			163			Helical; Name=4; (Potential).		Q6NWS4|Q6NXU6	Frame_Shift_Del	DEL	ENST00000258456.1	37	c.489delG	CCDS2066.1																																																																																				0.697	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		21	11	NA	NA	NA	NA	NA	21	11	---	---	---	---
MZT2A	653784	broad.mit.edu	37	2	132241761	132241761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:132241761delC	ENST00000309451.6	-	3	395	c.350delG	c.(349-351)ggafs	p.G117fs	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	117						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				breast(1)|lung(1)	2						GGCCAATACTCCCCCGAGGGC	0.632																																							uc002tsw.3		NA																	0					0						c.(349-351)GGAfs		hypothetical protein LOC653784							50.0	59.0	56.0					2																	132241761		2203	4300	6503	SO:0001589	frameshift_variant	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132241761delC	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"""	613449	"""family with sequence similarity 128, member A"""	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.350delG	2.37:g.132241761delC	ENSP00000311500:p.Gly117fs					FAM128A_uc002tsv.3_RNA	p.G117fs	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	465	-			117					Q3SWV8|Q8WVB2	Frame_Shift_Del	DEL	ENST00000309451.6	37	c.350delG	CCDS42758.1																																																																																				0.632	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			13	84	NA	NA	NA	NA	NA	13	84	---	---	---	---
LOC150776	150776	broad.mit.edu	37	2	132276832	132276832	+	RNA	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:132276832delG	ENST00000438378.2	+	0	2152					NR_026922.1																						AGAAGGCCCTGGAGTACCTGC	0.602																																							uc002tsz.3		NA																	0					0						c.(91-93)CTGfs		Homo sapiens cDNA FLJ41352 fis, clone BRAWH2014645.																																						150776							g.chr2:132276832delG																													2.37:g.132276832delG						LOC150776_uc002tsy.3_RNA	p.L31fs							1	540	+									Frame_Shift_Del	DEL	ENST00000438378.2	37	c.93delG																																																																																					0.602	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			17	26	NA	NA	NA	NA	NA	17	26	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497479	179497480	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:179497479_179497480delTT	ENST00000591111.1	-	185	38554_38555	c.38330_38331delAA	c.(38329-38331)aaafs	p.K12777fs	TTN_ENST00000589042.1_Frame_Shift_Del_p.K14418fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K5353fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.K5478fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K11850fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K5545fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12777	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)			TCTCGAAGACTTTAACATCACT	0.426																																							uc010zfg.1		NA																	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.(35548-35550)AAAfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497479_179497480delTT	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.38330_38331delAA	2.37:g.179497479_179497480delTT	ENSP00000465570:p.Lys12777fs					TTN_uc010zfh.1_Frame_Shift_Del_p.K5545fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K5478fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K5353fs	p.K11850fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35773_35774	-			12777					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.35549_35550delAA																																																																																					0.426	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	91	NA	NA	NA	NA	NA	32	91	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236649676	236649677	+	Frame_Shift_Ins	INS	-	-	C	rs369456229		TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr2:236649676_236649677insC	ENST00000304032.8	+	4	960_961	c.380_381insC	c.(379-384)ggccccfs	p.GP127fs	AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.GP127fs|AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.GP127fs|AGAP1_ENST00000409538.1_Frame_Shift_Ins_p.GP392fs	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	127	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.G127A(1)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAGG	0.49																																							uc002vvs.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|large_intestine(1)	ovary(2)|skin(1)	3						c.(379-381)GGCfs		centaurin, gamma 2 isoform 1																																				SO:0001589	frameshift_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236649676_236649677insC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.386dupC	2.37:g.236649682_236649682dupC	ENSP00000307634:p.Gly127fs					AGAP1_uc002vvt.2_Frame_Shift_Ins_p.G127fs	p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			4	975_976	+			127			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Frame_Shift_Ins	INS	ENST00000304032.8	37	c.380_381insC	CCDS33408.1																																																																																				0.490	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	27	NA	NA	NA	NA	NA	16	27	---	---	---	---
ZNF280B	140883	broad.mit.edu	37	22	22843330	22843330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr22:22843330delG	ENST00000406426.1	-	4	1136	c.394delC	c.(394-396)caafs	p.Q132fs	ZNF280B_ENST00000360412.2_Frame_Shift_Del_p.Q132fs			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCACAACTTGTGGTGAACTA	0.388																																							uc002zwc.1		NA																	0				ovary(2)	2						c.(394-396)CAAfs		zinc finger protein 280B							180.0	177.0	178.0					22																	22843330		2203	4300	6503	SO:0001589	frameshift_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843330delG	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.394delC	22.37:g.22843330delG	ENSP00000385998:p.Gln132fs					LOC96610_uc011aim.1_Intron	p.Q132fs	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1170	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	132						Frame_Shift_Del	DEL	ENST00000406426.1	37	c.394delC	CCDS13799.1																																																																																				0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		39	131	NA	NA	NA	NA	NA	39	131	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592373	38592373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:38592373delG	ENST00000333535.4	-	28	5639	c.5490delC	c.(5488-5490)cccfs	p.P1830fs	SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1812fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1776fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1829fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1797fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1812fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.P1830fs|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1776fs			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1830					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTATCTGGTTGGGCTTGGCGA	0.537																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5488-5490)CCCfs		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						76.0	83.0	81.0					3																	38592373		2136	4253	6389	SO:0001589	frameshift_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592373delG	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5490delC	3.37:g.38592373delG	ENSP00000328968:p.Pro1830fs					SCN5A_uc003cin.2_Frame_Shift_Del_p.P1829fs|SCN5A_uc003cil.3_Frame_Shift_Del_p.P1830fs|SCN5A_uc010hhi.2_Frame_Shift_Del_p.P1812fs|SCN5A_uc010hhk.2_Frame_Shift_Del_p.P1797fs|SCN5A_uc011ayr.1_Frame_Shift_Del_p.P1776fs	p.P1830fs	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5684	-	Medulloblastoma(35;0.163)		1830					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.5490delC	CCDS46796.1																																																																																				0.537	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		35	54	NA	NA	NA	NA	NA	35	54	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185390353	185390353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr3:185390353delG	ENST00000382199.2	-	10	1271	c.1176delC	c.(1174-1176)cccfs	p.P392fs	IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000421047.2_Frame_Shift_Del_p.P335fs|IGF2BP2_ENST00000457616.2_Frame_Shift_Del_p.P398fs	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	392					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGGGGGCAGCGGGGGGAGCTC	0.597																																							uc003fpo.2		NA																	0					0						c.(1174-1176)CCCfs		insulin-like growth factor 2 mRNA binding							26.0	28.0	27.0					3																	185390353		2203	4300	6503	SO:0001589	frameshift_variant	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185390353delG	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1176delC	3.37:g.185390353delG	ENSP00000371634:p.Pro392fs					IGF2BP2_uc010hyi.2_Frame_Shift_Del_p.P335fs|IGF2BP2_uc010hyj.2_Frame_Shift_Del_p.P329fs|IGF2BP2_uc010hyk.2_Frame_Shift_Del_p.P256fs|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Frame_Shift_Del_p.P397fs	p.P392fs	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		10	1255	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		392					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Frame_Shift_Del	DEL	ENST00000382199.2	37	c.1176delC	CCDS3273.2																																																																																				0.597	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		5	8	NA	NA	NA	NA	NA	5	8	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754088	49754088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr6:49754088delG	ENST00000304801.3	-	1	965	c.813delC	c.(811-813)gccfs	p.A271fs		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	271					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGTGCTTTGGCCATGATAT	0.428																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(811-813)GCCfs		phosphoglycerate kinase 2							135.0	129.0	131.0					6																	49754088		2203	4300	6503	SO:0001589	frameshift_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754088delG	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.813delC	6.37:g.49754088delG	ENSP00000305995:p.Ala271fs						p.A271fs	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	920	-	Lung NSC(77;0.0402)		271					B2R6Y8|Q9H107	Frame_Shift_Del	DEL	ENST00000304801.3	37	c.813delC	CCDS4930.1																																																																																				0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			25	114	NA	NA	NA	NA	NA	25	114	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134644834	134644834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:134644834delC	ENST00000361675.2	+	12	2400	c.2171delC	c.(2170-2172)tccfs	p.S724fs	CALD1_ENST00000393118.2_Frame_Shift_Del_p.S489fs|CALD1_ENST00000361901.2_Frame_Shift_Del_p.S469fs|CALD1_ENST00000417172.1_Frame_Shift_Del_p.S469fs|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Frame_Shift_Del_p.S494fs|CALD1_ENST00000543443.1_Frame_Shift_Del_p.S474fs|CALD1_ENST00000495522.1_Frame_Shift_Del_p.S488fs|CALD1_ENST00000424922.1_Frame_Shift_Del_p.S463fs|CALD1_ENST00000361388.2_Frame_Shift_Del_p.S495fs			Q05682	CALD1_HUMAN	caldesmon 1	724					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTGTTTTCATCCCCCACTGCA	0.453																																							uc003vrz.2		NA																	0					0						c.(2170-2172)TCCfs		caldesmon 1 isoform 1							130.0	110.0	117.0					7																	134644834		2203	4300	6503	SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134644834delC	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2171delC	7.37:g.134644834delC	ENSP00000354826:p.Ser724fs					CALD1_uc003vry.2_Frame_Shift_Del_p.S469fs|CALD1_uc003vsa.2_Frame_Shift_Del_p.S495fs|CALD1_uc003vsb.2_Frame_Shift_Del_p.S469fs|CALD1_uc010lmm.2_Frame_Shift_Del_p.S494fs|CALD1_uc011kpt.1_Frame_Shift_Del_p.S243fs|CALD1_uc003vsc.2_Frame_Shift_Del_p.S489fs|CALD1_uc003vsd.2_Frame_Shift_Del_p.S463fs|CALD1_uc011kpu.1_Frame_Shift_Del_p.S474fs|CALD1_uc011kpv.1_Frame_Shift_Del_p.S333fs|CALD1_uc003vse.2_Frame_Shift_Del_p.S587fs|CALD1_uc010lmn.2_RNA	p.S724fs	NM_033138	NP_149129	Q05682	CALD1_HUMAN			12	2630	+			724					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Del	DEL	ENST00000361675.2	37	c.2171delC	CCDS5835.1																																																																																				0.453	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		40	32	NA	NA	NA	NA	NA	40	32	---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr7:138764850delG	ENST00000242351.5	-	4	1153	c.837delC	c.(835-837)atcfs	p.I279fs	ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.I279fs|ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.I279fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582																																							uc003vun.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(835-837)ATCfs		zinc finger antiviral protein isoform 1							106.0	110.0	109.0					7																	138764850		2203	4300	6503	SO:0001589	frameshift_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764850delG	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.837delC	7.37:g.138764850delG	ENSP00000242351:p.Ile279fs					ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Frame_Shift_Del_p.I279fs	p.I279fs	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1225	-			279					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Frame_Shift_Del	DEL	ENST00000242351.5	37	c.837delC	CCDS5851.1																																																																																				0.582	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		40	123	NA	NA	NA	NA	NA	40	123	---	---	---	---
NAT1	9	broad.mit.edu	37	8	18079724	18079725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:18079724_18079725insG	ENST00000517492.1	+	3	806_807	c.168_169insG	c.(169-171)gatfs	p.D57fs	NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.D57fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.D119fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.D57fs|NAT1_ENST00000539092.1_Frame_Shift_Ins_p.D57fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.D57fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.D57fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.D57fs			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.D57Y(1)|p.D119Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AGGCCATTTTTGATCAAGTTGT	0.465																																							uc010ltd.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(166-171)TTTGATfs		N-acetyltransferase 1 isoform a																																				SO:0001589	frameshift_variant	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18079724_18079725insG	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.169dupG	8.37:g.18079725_18079725dupG	ENSP00000429407:p.Asp57fs					NAT1_uc003wyt.2_Frame_Shift_Ins_p.F118fs|NAT1_uc003wyu.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wyv.2_Frame_Shift_Ins_p.F56fs|NAT1_uc010ltc.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wys.2_Frame_Shift_Ins_p.F118fs|NAT1_uc003wyr.2_Frame_Shift_Ins_p.F56fs|NAT1_uc003wyq.2_Frame_Shift_Ins_p.F56fs|NAT1_uc011kyl.1_Frame_Shift_Ins_p.F56fs	p.F56fs	NM_001160179	NP_001153651	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	535_536	+			56_57					C9JWA6|Q86SY5	Frame_Shift_Ins	INS	ENST00000517492.1	37	c.168_169insG	CCDS6007.1																																																																																				0.465	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		44	64	NA	NA	NA	NA	NA	44	64	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:104897708delG	ENST00000436393.2	+	2	456	c.215delG	c.(214-216)aggfs	p.R72fs	RIMS2_ENST00000262231.10_Frame_Shift_Del_p.R102fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.R294fs|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Frame_Shift_Del_p.R102fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(214-216)AGGfs		regulating synaptic membrane exocytosis 2							105.0	97.0	99.0					8																	104897708		1884	4109	5993	SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897708delG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.215delG	8.37:g.104897708delG	ENSP00000390665:p.Arg72fs	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Frame_Shift_Del_p.R294fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.R102fs|RIMS2_uc003ylq.2_Frame_Shift_Del_p.R102fs|RIMS2_uc003ylr.2_Frame_Shift_Del_p.R102fs	p.R72fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	456	+			325					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37	c.215delG																																																																																					0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		36	86	NA	NA	NA	NA	NA	36	86	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124408447	124408447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr8:124408447delC	ENST00000287394.5	-	1	258	c.151delG	c.(151-153)gcgfs	p.A51fs	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	51					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGTGGTCGCCGCGGGTTTC	0.746																																							uc003yqh.3		NA																	0				ovary(2)	2						c.(151-153)GCGfs		ATPase family, AAA domain containing 2							6.0	8.0	8.0					8																	124408447		2139	4218	6357	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124408447delC	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.151delG	8.37:g.124408447delC	ENSP00000287394:p.Ala51fs					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Frame_Shift_Del_p.A51fs	p.A51fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	259	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		51					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.151delG	CCDS6343.1																																																																																				0.746	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		15	6	NA	NA	NA	NA	NA	15	6	---	---	---	---
CDC37L1	55664	broad.mit.edu	37	9	4706108	4706109	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chr9:4706108_4706109delTA	ENST00000381854.3	+	7	1212_1213	c.1010_1011delTA	c.(1009-1011)gtafs	p.V337fs		NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	337	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATGGACACTGTATAATTTGGTT	0.376																																							uc003zio.2		NA																	0					0						c.(1009-1011)GTAfs		cell division cycle 37 homolog (S.																																				SO:0001589	frameshift_variant	55664					cytoplasm		g.chr9:4706108_4706109delTA	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.1010_1011delTA	9.37:g.4706110_4706111delTA	ENSP00000371278:p.Val337fs						p.V337fs	NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	7	1220_1221	+	all_hematologic(13;0.137)	Breast(48;0.238)	337			Required for interaction with STIP1.|Interaction with Hsp70.		B1AL70|Q9NWS3|Q9NX16	Frame_Shift_Del	DEL	ENST00000381854.3	37	c.1010_1011delTA	CCDS6454.1																																																																																				0.376	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		67	17	NA	NA	NA	NA	NA	67	17	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47038768	47038768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5775-01A-01D-1625-08	TCGA-64-5775-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c209d392-7d3a-481c-8cc7-398a6b90290a	aac91e18-9d58-4f9a-83db-0159e65c37c6	g.chrX:47038768delC	ENST00000377604.3	+	9	1517	c.775delC	c.(775-777)ccafs	p.P259fs	RBM10_ENST00000345781.6_Frame_Shift_Del_p.P182fs|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Del_p.P182fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	259					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGACACTGCCACTGGGTGG	0.677																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(775-777)CCAfs		RNA binding motif protein 10 isoform 1							15.0	13.0	14.0					X																	47038768		2194	4288	6482	SO:0001589	frameshift_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47038768delC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.775delC	X.37:g.47038768delC	ENSP00000366829:p.Pro259fs					RBM10_uc004dhg.2_Frame_Shift_Del_p.P182fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.P259fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.P182fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.P324fs	p.P259fs	NM_005676	NP_005667	P98175	RBM10_HUMAN			9	1154	+			259					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	c.775delC	CCDS14274.1																																																																																				0.677	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		7	3	NA	NA	NA	NA	NA	7	3	---	---	---	---
