#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	957793	957793	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:957793C>T	ENST00000379370.2	+	2	464	c.414C>T	c.(412-414)ctC>ctT	p.L138L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	138	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				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.L138L(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)		ACTCCAGCCTCATGCGGATCA	0.632																																						uc001ack.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(412-414)CTC>CTT		agrin precursor							87.0	88.0	88.0					1																	957793		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.chr1:957793C>T	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.414C>T	1.37:g.957793C>T							p.L138L	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)	2	464	+	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)	138			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.414C>T	CCDS30551.1																																																																																				PASS	0.632	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		6	66	6	66	---	---	---	---
AGRN	375790	broad.mit.edu	37	1	981368	981368	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:981368C>T	ENST00000379370.2	+	16	2755	c.2705C>T	c.(2704-2706)gCg>gTg	p.A902V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	902					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.A902V(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)		GCGACCTGTGCGGAGATGCGC	0.667																																						uc001ack.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(2704-2706)GCG>GTG		agrin precursor							94.0	95.0	95.0					1																	981368		2203	4300	6503	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.chr1:981368C>T	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.2705C>T	1.37:g.981368C>T	ENSP00000368678:p.Ala902Val						p.A902V	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)	16	2755	+	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)	902					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.2705C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	7.197	0.592768	0.13875	.	.	ENSG00000188157	ENST00000379370	T	0.74526	-0.85	5.46	3.26	0.37387	Follistatin-like, N-terminal (1);	0.342267	0.23077	N	0.052188	T	0.54983	0.1892	L	0.45228	1.405	0.21822	N	0.999529	P	0.34892	0.474	B	0.24394	0.053	T	0.42732	-0.9434	10	0.25751	T	0.34	-10.0877	2.1603	0.03823	0.1988:0.4987:0.1665:0.136	.	902	O00468	AGRIN_HUMAN	V	902	ENSP00000368678:A902V	ENSP00000368678:A902V	A	+	2	0	AGRN	971231	0.140000	0.22579	0.564000	0.28396	0.037000	0.13140	0.952000	0.29149	0.374000	0.24650	0.655000	0.94253	GCG		PASS	0.667	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		7	39	7	39	---	---	---	---
CPTP	80772	broad.mit.edu	37	1	1263143	1263143	+	Nonstop_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:1263143G>C	ENST00000343938.4	+	3	1056	c.645G>C	c.(643-645)taG>taC	p.*215Y	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		0					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)	p.*215Y(1)		lung(1)	1	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)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCCCTAGGGGCGGGAAG	0.682																																						uc001aeo.2																			1	Nonstop extension(1)		lung(1)		0						c.(643-645)TAG>TAC		glycolipid transfer protein domain containing 1							41.0	48.0	46.0					1																	1263143		2078	4206	6284	SO:0001578	stop_lost	80772					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr1:1263143G>C																												ENST00000343938.4:c.645G>C	1.37:g.1263143G>C	ENSP00000343890:p.*215Tyrext*44						p.*215Y	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	1060	+	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)	215					Q4G0E6|Q7L5A4	Nonstop_Mutation	SNP	ENST00000343938.4	37	c.645G>C	CCDS30555.1	.	.	.	.	.	.	.	.	.	.	G	4.507	0.094013	0.08632	.	.	ENSG00000224051	ENST00000343938	.	.	.	5.03	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8298	0.23902	0.53:0.0:0.47:0.0	.	.	.	.	Y	215	.	.	X	+	3	2	GLTPD1	1253006	0.738000	0.28186	0.323000	0.25347	0.067000	0.16453	1.078000	0.30754	0.316000	0.23135	0.555000	0.69702	TAG		PASS	0.682	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008742.1			4	26	4	26	---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2939345	2939345	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:2939345G>T	ENST00000378404.2	+	1	1300	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K365N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAGACTTCAAGGAGTTTGGGA	0.602																																						uc001ajz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)AAG>AAT		actin-related protein M2							122.0	138.0	132.0					1																	2939345		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939345G>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.1095G>T	1.37:g.2939345G>T	ENSP00000367658:p.Lys365Asn						p.K365N	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1300	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	365					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.1095G>T	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812916	0.16537	.	.	ENSG00000169717	ENST00000378404	D	0.94184	-3.37	4.65	2.32	0.28847	.	0.450615	0.19852	N	0.104604	D	0.88070	0.6338	L	0.48174	1.505	0.39549	D	0.968941	B	0.31413	0.322	B	0.28553	0.091	D	0.85305	0.1075	10	0.87932	D	0	.	5.4874	0.16757	0.2141:0.0:0.6224:0.1635	.	365	Q8TDY3	ACTT2_HUMAN	N	365	ENSP00000367658:K365N	ENSP00000367658:K365N	K	+	3	2	ACTRT2	2929205	0.943000	0.32029	0.999000	0.59377	0.271000	0.26615	0.000000	0.12993	0.920000	0.36970	0.561000	0.74099	AAG		PASS	0.602	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		7	202	7	202	---	---	---	---
CASP9	842	broad.mit.edu	37	1	15844888	15844888	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:15844888C>A	ENST00000333868.5	-	2	229	c.135G>T	c.(133-135)cgG>cgT	p.R45R	CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000348549.5_Silent_p.R45R|CASP9_ENST00000546424.1_Silent_p.R45R	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	45	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)	p.R45R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CAGAGCCTGCCCGCTGTTTGG	0.498																																						uc001awn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(133-135)CGG>CGT		caspase 9 isoform alpha preproprotein							43.0	46.0	45.0					1																	15844888		2203	4300	6503	SO:0001819	synonymous_variant	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844888C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.135G>T	1.37:g.15844888C>A						CASP9_uc001awm.1_Silent_p.R45R|CASP9_uc001awo.2_Silent_p.R45R|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	p.R45R	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	2	230	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	45			CARD.		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Silent	SNP	ENST00000333868.5	37	c.135G>T	CCDS158.1																																																																																				PASS	0.498	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996		17	41	17	41	---	---	---	---
DCDC2B	149069	broad.mit.edu	37	1	32678369	32678369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:32678369C>A	ENST00000409358.1	+	6	689	c.689C>A	c.(688-690)tCg>tAg	p.S230*		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	230					intracellular signal transduction (GO:0035556)			p.S230*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTCCAGGCTCGAAGTCTAGG	0.587																																						uc001bun.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(688-690)TCG>TAG		doublecortin domain containing 2B							96.0	97.0	97.0					1																	32678369		2007	4155	6162	SO:0001587	stop_gained	149069				intracellular signal transduction			g.chr1:32678369C>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.689C>A	1.37:g.32678369C>A	ENSP00000386870:p.Ser230*						p.S230*	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			6	689	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	230					B7ZBC6	Nonsense_Mutation	SNP	ENST00000409358.1	37	c.689C>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534137	0.27475	.	.	ENSG00000222046	ENST00000409358	.	.	.	4.83	-7.53	0.01336	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	4.818	0.13376	0.0977:0.1413:0.4829:0.2781	.	.	.	.	X	230	.	ENSP00000386870:S230X	S	+	2	0	DCDC2B	32450956	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.709000	0.00819	-1.282000	0.02396	-0.165000	0.13383	TCG		PASS	0.587	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		4	53	4	53	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35332751	35332751	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:35332751C>T	ENST00000373347.1	-	11	2887	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	DLGAP3_ENST00000235180.4_Silent_p.A873A			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	873					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.A873A(1)		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)				CCCAGAAACCCGCCAGGTCCT	0.577											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001byc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2617-2619)GCG>GCA		discs, large (Drosophila) homolog-associated							92.0	100.0	97.0					1																	35332751		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35332751C>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.2619G>A	1.37:g.35332751C>T			OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	854		p.A873A	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			9	2619	-		Myeloproliferative disorder(586;0.0393)	873					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.2619G>A	CCDS30670.1																																																																																				PASS	0.577	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		16	59	16	59	---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40874374	40874374	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:40874374A>G	ENST00000539317.1	+	3	240	c.47A>G	c.(46-48)tAt>tGt	p.Y16C		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	96	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Y96C(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TATGAAGCCTATCTTCCTGAG	0.448																																						uc001cfj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)TAT>TGT		small ArfGAP2							195.0	163.0	174.0					1																	40874374		2203	4300	6503	SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40874374A>G	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.47A>G	1.37:g.40874374A>G	ENSP00000442835:p.Tyr16Cys					SMAP2_uc010ojh.1_Missense_Mutation_p.Y96C|SMAP2_uc001cfk.2_Missense_Mutation_p.Y66C|SMAP2_uc010oji.1_Missense_Mutation_p.Y13C	p.Y96C	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		3	352	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	96			Arf-GAP.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.287A>G	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353162	0.41700	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.42513	0.97;0.97;0.97	5.59	5.59	0.84812	.	0.159733	0.56097	D	0.000031	T	0.38772	0.1053	N	0.16790	0.44	0.42075	D	0.991225	D;P;D	0.67145	0.996;0.932;0.984	P;B;P	0.56216	0.794;0.417;0.685	T	0.31696	-0.9934	10	0.46703	T	0.11	1.5917	9.0776	0.36531	0.8364:0.0:0.0:0.1636	.	16;66;96	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	C	96;96;66;16	ENSP00000361803:Y96C;ENSP00000361793:Y66C;ENSP00000442835:Y16C	ENSP00000361793:Y66C	Y	+	2	0	SMAP2	40646961	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.015000	0.40961	2.122000	0.65172	0.533000	0.62120	TAT		PASS	0.448	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		18	56	18	56	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47765602	47765602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:47765602G>A	ENST00000360380.3	-	7	1039	c.676C>T	c.(676-678)Caa>Taa	p.Q226*	STIL_ENST00000396221.2_Nonsense_Mutation_p.Q226*|STIL_ENST00000337817.5_Nonsense_Mutation_p.Q226*|STIL_ENST00000243182.6_Nonsense_Mutation_p.Q226*|STIL_ENST00000371877.3_Nonsense_Mutation_p.Q226*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	226					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q226*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CCTTGAACTTGAGAAATATTC	0.333																																						uc001crc.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(1)	3						c.(676-678)CAA>TAA		SCL/TAL1 interrupting locus isoform 2							67.0	68.0	68.0					1																	47765602		2203	4300	6503	SO:0001587	stop_gained	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47765602G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.676C>T	1.37:g.47765602G>A	ENSP00000353544:p.Gln226*					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.Q179*|STIL_uc010omo.1_Nonsense_Mutation_p.Q226*|STIL_uc001crd.1_Nonsense_Mutation_p.Q226*|STIL_uc001cre.1_Nonsense_Mutation_p.Q226*|STIL_uc001crg.1_Nonsense_Mutation_p.Q179*	p.Q226*	NM_003035	NP_003026	Q15468	STIL_HUMAN			6	831	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	226					Q5T0C5|Q68CN9	Nonsense_Mutation	SNP	ENST00000360380.3	37	c.676C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202258	0.97371	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	.	.	.	5.47	5.47	0.80525	.	0.104194	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.3442	19.3415	0.94344	0.0:0.0:1.0:0.0	.	.	.	.	X	226;226;226;226;226;179	.	ENSP00000243182:Q226X	Q	-	1	0	STIL	47538189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.535000	0.82014	2.546000	0.85860	0.557000	0.71058	CAA		PASS	0.333	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		7	37	7	37	---	---	---	---
DNTTIP2	30836	broad.mit.edu	37	1	94343061	94343061	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:94343061C>G	ENST00000436063.2	-	2	487	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E144Q(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ACATGAGATTCTGCTTCAGAC	0.413																																						uc001dqf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GAA>CAA		deoxynucleotidyltransferase, terminal,							108.0	96.0	99.0					1																	94343061		1855	4094	5949	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94343061C>G	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.430G>C	1.37:g.94343061C>G	ENSP00000411010:p.Glu144Gln					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	p.E144Q	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	468	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	144					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.430G>C	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944768	0.73672	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.47528	0.84	5.23	5.23	0.72850	.	0.096535	0.45126	D	0.000399	T	0.55625	0.1932	M	0.66939	2.045	0.34345	D	0.689173	D	0.63880	0.993	P	0.58013	0.831	T	0.61525	-0.7045	10	0.72032	D	0.01	.	17.2351	0.86996	0.0:1.0:0.0:0.0	.	144	Q5QJE6	TDIF2_HUMAN	Q	144;151	ENSP00000411010:E144Q	ENSP00000352137:E144Q	E	-	1	0	DNTTIP2	94115649	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.867000	0.63013	2.736000	0.93811	0.644000	0.83932	GAA		PASS	0.413	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		16	26	16	26	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114483925	114483925	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:114483925A>T	ENST00000369558.1	+	2	1152	c.920A>T	c.(919-921)aAg>aTg	p.K307M	HIPK1_ENST00000369555.2_Missense_Mutation_p.K307M|HIPK1_ENST00000369559.4_Missense_Mutation_p.K307M|HIPK1_ENST00000369554.2_Missense_Mutation_p.K307M|HIPK1_ENST00000426820.2_Missense_Mutation_p.K307M|HIPK1_ENST00000369561.4_Missense_Mutation_p.K307M			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K307M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAAGCTCAAGAGTCTTGGT	0.458																																						uc001eem.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(919-921)AAG>ATG		homeodomain-interacting protein kinase 1 isoform							98.0	92.0	94.0					1																	114483925		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483925A>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.920A>T	1.37:g.114483925A>T	ENSP00000358571:p.Lys307Met					HIPK1_uc001eel.2_Missense_Mutation_p.K307M|HIPK1_uc001een.2_Missense_Mutation_p.K307M	p.K307M	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1081	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	307			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.920A>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137135	0.77775	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.59	5.59	0.84812	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	0.64402	D	0.000001	T	0.77864	0.4194	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.995	T	0.82502	-0.0425	10	0.87932	D	0	.	15.7631	0.78103	1.0:0.0:0.0:0.0	.	307;307	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	M	378;307;307;307;307;307;307	ENSP00000407442:K378M;ENSP00000358572:K307M;ENSP00000409673:K307M;ENSP00000358567:K307M;ENSP00000358568:K307M;ENSP00000358571:K307M;ENSP00000358574:K307M	ENSP00000358567:K307M	K	+	2	0	HIPK1	114285448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.281000	0.95811	2.126000	0.65437	0.377000	0.23210	AAG		PASS	0.458	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	29	15	29	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145103915	145103915	+	RNA	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:145103915G>A	ENST00000453618.1	+	0	410							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGTCTGGCCGGGACCTTCAA	0.418																																						uc001eml.1																			0					0						c.(82-84)CGG>CAG		SEC22 vesicle trafficking protein homolog B							65.0	59.0	61.0					1																	145103915		1928	4133	6061			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103915G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103915G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.R28Q	NM_004892	NP_004883	O75396	SC22B_HUMAN			2	223	+			28			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.83G>A																																																																																					PASS	0.418	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		6	26	6	26	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325832	152325832	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:152325832C>T	ENST00000388718.5	-	3	4502	c.4430G>A	c.(4429-4431)aGa>aAa	p.R1477K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1477					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1477K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGGCATGTCTAGTGGTATC	0.507																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4429-4431)AGA>AAA		filaggrin family member 2							417.0	380.0	392.0					1																	152325832		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325832C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4430G>A	1.37:g.152325832C>T	ENSP00000373370:p.Arg1477Lys					uc001ezv.2_Intron	p.R1477K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4503	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1477			Filaggrin 5.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4430G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012945	0.19277	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.2	-0.102	0.13613	.	.	.	.	.	T	0.02012	0.0063	M	0.66297	2.02	0.09310	N	1	B	0.25105	0.118	B	0.24006	0.05	T	0.48917	-0.8992	9	0.06494	T	0.89	-9.6456	5.3592	0.16077	0.0:0.4747:0.4018:0.1235	.	1477	Q5D862	FILA2_HUMAN	K	1477	ENSP00000373370:R1477K	ENSP00000373370:R1477K	R	-	2	0	FLG2	150592456	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.277000	0.08502	-0.080000	0.12685	0.297000	0.19635	AGA		PASS	0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		38	291	38	291	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155319173	155319173	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:155319173T>C	ENST00000368346.3	-	19	8153	c.7514A>G	c.(7513-7515)tAt>tGt	p.Y2505C	ASH1L_ENST00000392403.3_Missense_Mutation_p.Y2500C|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2505	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Y2500C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTGTCTTATAGTAACCAGT	0.408																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7513-7515)TAT>TGT		absent, small, or homeotic 1-like							96.0	94.0	95.0					1																	155319173		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155319173T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7514A>G	1.37:g.155319173T>C	ENSP00000357330:p.Tyr2505Cys					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.Y2500C|MIR555_hsa-mir-555|MI0003561_5'Flank	p.Y2505C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		19	7994	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2505			Bromo.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7514A>G		.	.	.	.	.	.	.	.	.	.	T	19.93	3.917719	0.73098	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.63096	-0.02;-0.02	4.8	4.8	0.61643	Bromodomain (5);	0.059107	0.64402	D	0.000001	D	0.83695	0.5310	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89504	0.3766	10	0.87932	D	0	.	14.1667	0.65480	0.0:0.0:0.0:1.0	.	2505;2500	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2505;2500	ENSP00000357330:Y2505C;ENSP00000376204:Y2500C	ENSP00000357330:Y2505C	Y	-	2	0	ASH1L	153585797	1.000000	0.71417	0.887000	0.34795	0.825000	0.46686	7.312000	0.78968	2.025000	0.59659	0.454000	0.30748	TAT		PASS	0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		19	35	19	35	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155408137	155408137	+	Missense_Mutation	SNP	C	C	T	rs142217207		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:155408137C>T	ENST00000368346.3	-	5	6448	c.5809G>A	c.(5809-5811)Gag>Aag	p.E1937K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1937K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1937					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1937K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTCTTGCTCTTCTTCCTCT	0.343																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(5809-5811)GAG>AAG		absent, small, or homeotic 1-like		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	137.0	135.0	136.0		5809	5.2	1.0	1	dbSNP_134	136	0,8600		0,0,4300	no	missense	ASH1L	NM_018489.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1937/2965	155408137	1,13005	2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408137C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5809G>A	1.37:g.155408137C>T	ENSP00000357330:p.Glu1937Lys					ASH1L_uc001fkt.2_Missense_Mutation_p.E1937K	p.E1937K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6289	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1937					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5809G>A		.	.	.	.	.	.	.	.	.	.	C	18.08	3.544870	0.65198	2.27E-4	0.0	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89415	-2.51;-2.51	5.21	5.21	0.72293	.	0.272607	0.34802	N	0.003677	D	0.83501	0.5268	N	0.24115	0.695	0.80722	D	1	P;D	0.54964	0.948;0.969	P;P	0.53313	0.533;0.723	T	0.81127	-0.1074	10	0.19590	T	0.45	.	18.5516	0.91066	0.0:1.0:0.0:0.0	.	1937;1937	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	1937	ENSP00000357330:E1937K;ENSP00000376204:E1937K	ENSP00000357330:E1937K	E	-	1	0	ASH1L	153674761	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	3.656000	0.54467	2.723000	0.93209	0.563000	0.77884	GAG		PASS	0.343	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		22	97	22	97	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157490979	157490979	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:157490979C>T	ENST00000361835.3	-	11	2500	c.2343G>A	c.(2341-2343)ctG>ctA	p.L781L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L781L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	781	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.L781L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGTACAGGATCAGGGGAGAGC	0.612																																						uc001fqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2341-2343)CTG>CTA		Fc receptor-like 5							56.0	60.0	59.0					1																	157490979		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490979C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2343G>A	1.37:g.157490979C>T						FCRL5_uc009wsm.2_Silent_p.L781L	p.L781L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			11	2501	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	781			Extracellular (Potential).|Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2343G>A	CCDS1165.1																																																																																				PASS	0.612	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		18	55	18	55	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158549012	158549012	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:158549012G>T	ENST00000368150.1	-	1	677	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T226T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAGCAGAAGGGTACCCAGCA	0.473																																						uc010pin.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(676-678)ACC>ACA		olfactory receptor, family 10, subfamily X,							112.0	109.0	110.0					1																	158549012		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549012G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.678C>A	1.37:g.158549012G>T							p.T226T	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	678	-	all_hematologic(112;0.0378)		226			Helical; Name=5; (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.678C>A	CCDS30900.1																																																																																				PASS	0.473	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		5	73	5	73	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166962035	166962035	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:166962035C>A	ENST00000367872.4	+	4	682	c.438C>A	c.(436-438)ctC>ctA	p.L146L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.L115L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	146					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.L146L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AGTATTCTCTCCAAGAAGGTA	0.363																																						uc001gdy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(436-438)CTC>CTA		maelstrom homolog							109.0	109.0	109.0					1																	166962035		2203	4300	6503	SO:0001819	synonymous_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166962035C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.438C>A	1.37:g.166962035C>A						MAEL_uc001gdz.1_Silent_p.L115L|MAEL_uc009wvf.1_RNA	p.L146L	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			4	509	+			146					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	c.438C>A	CCDS1257.1																																																																																				PASS	0.363	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		14	47	14	47	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179609118	179609118	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:179609118A>T	ENST00000367614.1	+	10	2024	c.1665A>T	c.(1663-1665)gaA>gaT	p.E555D	TDRD5_ENST00000444136.1_Missense_Mutation_p.E555D|TDRD5_ENST00000294848.8_Missense_Mutation_p.E555D	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	555	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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.E555D(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						AGAAACAGGAAGTTGAAGTGT	0.413																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1663-1665)GAA>GAT		tudor domain containing 5							207.0	198.0	201.0					1																	179609118		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609118A>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.1665A>T	1.37:g.179609118A>T	ENSP00000356586:p.Glu555Asp					TDRD5_uc010pnp.1_Missense_Mutation_p.E555D|TDRD5_uc001gnh.1_Missense_Mutation_p.E110D	p.E555D	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			10	1915	+			555			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1665A>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238404	0.58886	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.47	1.71	0.24356	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.190064	0.46145	D	0.000319	T	0.13500	0.0327	N	0.20685	0.6	0.36269	D	0.855032	D;D	0.76494	0.999;0.999	D;D	0.69479	0.958;0.964	T	0.21965	-1.0230	10	0.21014	T	0.42	-9.384	8.4719	0.32991	0.6941:0.0:0.3059:0.0	.	555;555	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	D	555;555;555;11	ENSP00000356586:E555D;ENSP00000294848:E555D;ENSP00000406052:E555D;ENSP00000410744:E11D	ENSP00000294848:E555D	E	+	3	2	TDRD5	177875741	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.595000	0.24029	0.030000	0.15379	0.533000	0.62120	GAA		PASS	0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		28	96	28	96	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183885717	183885717	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:183885717C>T	ENST00000360851.3	+	16	2064	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	RGL1_ENST00000304685.4_Missense_Mutation_p.S664L|RGL1_ENST00000536277.1_Missense_Mutation_p.S627L|RGL1_ENST00000539189.1_Missense_Mutation_p.S600L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	629					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S664L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CGCTCTGTCTCGGTGACGTCC	0.507																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(1885-1887)TCG>TTG		ral guanine nucleotide dissociation							197.0	182.0	187.0					1																	183885717		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885717C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1886C>T	1.37:g.183885717C>T	ENSP00000354097:p.Ser629Leu					RGL1_uc001gqm.2_Missense_Mutation_p.S664L|RGL1_uc010pog.1_Missense_Mutation_p.S627L|RGL1_uc010poh.1_Missense_Mutation_p.S627L|RGL1_uc010poi.1_Missense_Mutation_p.S600L	p.S629L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			16	2043	+			629					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1886C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.129169	0.94473	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.55588	0.54;0.54;0.57;0.56;0.51	5.43	5.43	0.79202	.	0.242123	0.43416	D	0.000572	T	0.69833	0.3155	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.997	D;D;D;D	0.76575	0.979;0.988;0.953;0.968	T	0.70099	-0.4965	10	0.52906	T	0.07	.	17.827	0.88668	0.0:1.0:0.0:0.0	.	600;627;629;664	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	L	664;664;627;629;600	ENSP00000303192:S664L;ENSP00000356501:S664L;ENSP00000438662:S627L;ENSP00000354097:S629L;ENSP00000437355:S600L	ENSP00000303192:S664L	S	+	2	0	RGL1	182152340	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	7.460000	0.80816	2.555000	0.86185	0.650000	0.86243	TCG		PASS	0.507	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		48	100	48	100	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185959424	185959424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:185959424G>T	ENST00000271588.4	+	22	3455	c.3226G>T	c.(3226-3228)Gga>Tga	p.G1076*	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.G1076*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1076	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G1076*(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGAGTGTTTGGAGATCAACG	0.423																																						uc001grq.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(22)|skin(1)	23						c.(3226-3228)GGA>TGA		hemicentin 1 precursor							281.0	295.0	291.0					1																	185959424		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959424G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3226G>T	1.37:g.185959424G>T	ENSP00000271588:p.Gly1076*					HMCN1_uc001grr.1_Nonsense_Mutation_p.G417*	p.G1076*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			22	3455	+			1076			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.3226G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	43	10.384255	0.99395	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.79	5.79	0.91817	.	0.051610	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	14.832	0.70156	0.0:0.0:0.8562:0.1438	.	.	.	.	X	1076	.	ENSP00000271588:G1076X	G	+	1	0	HMCN1	184226047	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.079000	0.71291	2.733000	0.93635	0.655000	0.94253	GGA		PASS	0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	378	8	378	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212965318	212965318	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:212965318G>C	ENST00000366974.4	+	1	149	c.55G>C	c.(55-57)Gac>Cac	p.D19H	NSL1_ENST00000473995.1_5'Flank|TATDN3_ENST00000526997.1_Missense_Mutation_p.D19H|TATDN3_ENST00000532324.1_Missense_Mutation_p.D19H|TATDN3_ENST00000526641.1_Missense_Mutation_p.D19H|TATDN3_ENST00000366973.4_Missense_Mutation_p.D19H|NSL1_ENST00000366977.3_5'Flank|TATDN3_ENST00000531963.1_Missense_Mutation_p.D19H|NSL1_ENST00000366976.1_5'Flank|NSL1_ENST00000366975.6_5'Flank|TATDN3_ENST00000530441.1_Missense_Mutation_p.D19H|NSL1_ENST00000422588.2_5'Flank|NSL1_ENST00000366978.1_5'Flank	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	19					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.D19H(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CTCCGCCCCGGACTTTGACCG	0.662																																						uc001hjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)GAC>CAC		TatD DNase domain containing 3 isoform 1							37.0	42.0	40.0					1																	212965318		2203	4300	6503	SO:0001583	missense	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212965318G>C	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.55G>C	1.37:g.212965318G>C	ENSP00000355941:p.Asp19His					NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D19H|TATDN3_uc010ptk.1_Missense_Mutation_p.D19H|TATDN3_uc001hjp.2_Missense_Mutation_p.D19H|TATDN3_uc010ptl.1_Missense_Mutation_p.D19H	p.D19H	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	1	149	+			19					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	c.55G>C	CCDS31019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.170706|3.170706	0.57584|0.57584	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000530441;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997|ENST00000488246	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.208186|.	0.46758|.	D|.	0.000267|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.73430|0.73430	2.235|2.235	0.58432|0.58432	D|D	0.999997|0.999997	D;P;P;D;D|.	0.64830|.	0.994;0.942;0.9;0.984;0.987|.	D;P;P;P;P|.	0.65684|.	0.937;0.82;0.887;0.902;0.887|.	T|T	0.74708|0.74708	-0.3574|-0.3574	9|5	0.66056|.	D|.	0.02|.	-9.7474|-9.7474	16.3758|16.3758	0.83387|0.83387	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;19;19;19;19|.	E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;TATD3_HUMAN|.	H|A	19|18	.|.	ENSP00000355940:D19H|.	D|G	+|+	1|2	0|0	TATDN3|TATDN3	211031941|211031941	0.978000|0.978000	0.34361|0.34361	0.981000|0.981000	0.43875|0.43875	0.066000|0.066000	0.16364|0.16364	2.295000|2.295000	0.43576|0.43576	2.729000|2.729000	0.93468|0.93468	0.467000|0.467000	0.42956|0.42956	GAC|GGA		PASS	0.662	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		3	15	3	15	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214551397	214551397	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:214551397G>T	ENST00000366956.5	-	14	2787	c.2593C>A	c.(2593-2595)Ctg>Atg	p.L865M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	865					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.L865M(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCAACATCAGCGGCCTCTTC	0.522																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2593-2595)CTG>ATG		protein tyrosine phosphatase, non-receptor type							111.0	98.0	102.0					1																	214551397		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214551397G>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2593C>A	1.37:g.214551397G>T	ENSP00000355923:p.Leu865Met					PTPN14_uc010pty.1_Missense_Mutation_p.L766M	p.L865M	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	14	2864	-			865					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2593C>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290304	0.59976	.	.	ENSG00000152104	ENST00000366956	T	0.76709	-1.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	D	0.84329	0.5448	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85012	0.0906	10	0.72032	D	0.01	.	6.9595	0.24590	0.2108:0.0:0.7892:0.0	.	865	Q15678	PTN14_HUMAN	M	865	ENSP00000355923:L865M	ENSP00000355923:L865M	L	-	1	2	PTPN14	212618020	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	3.537000	0.53590	2.507000	0.84556	0.563000	0.77884	CTG		PASS	0.522	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		13	41	13	41	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215963407	215963407	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:215963407C>A	ENST00000307340.3	-	51	10562	c.10176G>T	c.(10174-10176)atG>atT	p.M3392I	USH2A_ENST00000366943.2_Missense_Mutation_p.M3392I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3392					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.M3392I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTTCATCATCATTCCAG	0.333										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10174-10176)ATG>ATT		usherin isoform B							73.0	75.0	74.0					1																	215963407		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963407C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10176G>T	1.37:g.215963407C>A	ENSP00000305941:p.Met3392Ile	HNSCC(13;0.011)					p.M3392I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10563	-			3392			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10176G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571257	0.28003	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12147	2.72;2.71	5.76	5.76	0.90799	Fibronectin, type III (2);	0.236337	0.29266	N	0.012646	T	0.15522	0.0374	L	0.55481	1.735	0.29561	N	0.850616	B	0.26318	0.146	B	0.15870	0.014	T	0.03413	-1.1039	10	0.45353	T	0.12	.	14.7746	0.69713	0.1443:0.8557:0.0:0.0	.	3392	O75445	USH2A_HUMAN	I	3392	ENSP00000305941:M3392I;ENSP00000355910:M3392I	ENSP00000305941:M3392I	M	-	3	0	USH2A	214030030	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	1.037000	0.30241	2.713000	0.92767	0.655000	0.94253	ATG		PASS	0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	44	10	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:216062110G>C	ENST00000307340.3	-	41	8267	c.7881C>G	c.(7879-7881)atC>atG	p.I2627M	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I2627M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2627	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7879-7881)ATC>ATG		usherin isoform B							79.0	83.0	81.0					1																	216062110		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062110G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7881C>G	1.37:g.216062110G>C	ENSP00000305941:p.Ile2627Met	HNSCC(13;0.011)					p.I2627M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8268	-			2627			Extracellular (Potential).|Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7881C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177320	0.38413	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.84	3.67	0.42095	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000551	T	0.66636	0.2809	M	0.79475	2.455	0.32924	D	0.516184	D	0.76494	0.999	D	0.68192	0.956	T	0.73678	-0.3907	10	0.49607	T	0.09	.	6.7532	0.23499	0.3445:0.0:0.6555:0.0	.	2627	O75445	USH2A_HUMAN	M	2627	ENSP00000305941:I2627M;ENSP00000355910:I2627M	ENSP00000305941:I2627M	I	-	3	3	USH2A	214128733	1.000000	0.71417	0.138000	0.22173	0.183000	0.23260	1.820000	0.39032	1.478000	0.48253	-0.137000	0.14449	ATC		PASS	0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	32	12	32	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237837447	237837447	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:237837447A>G	ENST00000366574.2	+	59	8959	c.8642A>G	c.(8641-8643)gAg>gGg	p.E2881G	RYR2_ENST00000360064.6_Missense_Mutation_p.E2879G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2865G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2881	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.E2879G(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)			ACAGCCAAAGAGAAAGCCAAG	0.423																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8641-8643)GAG>GGG		cardiac muscle ryanodine receptor							112.0	110.0	110.0					1																	237837447		1968	4150	6118	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.chr1:237837447A>G	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.8642A>G	1.37:g.237837447A>G	ENSP00000355533:p.Glu2881Gly					RYR2_uc010pxz.1_5'Flank	p.E2881G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8762	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2881			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8642A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838288	0.91117	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93859	-3.3;-3.3;-3.3	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000008	D	0.97374	0.9141	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98404	1.0569	10	0.87932	D	0	.	15.2905	0.73862	1.0:0.0:0.0:0.0	.	2881	Q92736	RYR2_HUMAN	G	2881;2879;2865	ENSP00000355533:E2881G;ENSP00000353174:E2879G;ENSP00000443798:E2865G	ENSP00000353174:E2879G	E	+	2	0	RYR2	235904070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.226000	0.95229	2.009000	0.58944	0.455000	0.32223	GAG		PASS	0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		21	92	21	92	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655048	247655049	+	RNA	DNP	CC	CC	AA	rs141044958		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:247655048_247655049CC>AA	ENST00000522351.1	+	0	679_680							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P207N(1)|p.P207T(1)|p.P207H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGGTGGCTCTCCTCCTGGTGCC	0.569																																						uc001icz.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)|skin(1)	3						c.(619-621)CCT>ACT|c.(619-621)CCT>CAT		olfactory receptor, family 2, subfamily W,																																						441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655048C>A|g.chr1:247655049C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573	Exception_encountered	1.37:g.247655048_247655049delinsAA							p.P207T|p.P207H	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	619|620	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	207					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.619C>A|c.620C>A																																																																																					PASS	0.569	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		23|25	85|83	23	83	---	---	---	---
MATN3	4148	broad.mit.edu	37	2	20200307	20200307	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:20200307C>A	ENST00000407540.3	-	5	1125	c.1063G>T	c.(1063-1065)Ggt>Tgt	p.G355C	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.G313C	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	355	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G355C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGGTACCCAAAGCACAT	0.393																																						uc002rdl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GGT>TGT		matrilin 3 precursor							53.0	50.0	51.0					2																	20200307		1840	4091	5931	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20200307C>A	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1063G>T	2.37:g.20200307C>A	ENSP00000383894:p.Gly355Cys					MATN3_uc010exu.1_Missense_Mutation_p.G313C	p.G355C	NM_002381	NP_002372	O15232	MATN3_HUMAN			5	1126	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		355			EGF-like 3.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.1063G>T	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626513	0.87560	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.96619	-1.61;-4.07	5.72	5.72	0.89469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	M	0.94142	3.5	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.99167	1.0863	10	0.66056	D	0.02	-30.059	19.218	0.93785	0.0:1.0:0.0:0.0	.	313;355	B2CPU0;O15232	.;MATN3_HUMAN	C	355;313	ENSP00000383894:G355C;ENSP00000398753:G313C	ENSP00000383894:G355C	G	-	1	0	MATN3	20063788	0.998000	0.40836	0.231000	0.23993	0.997000	0.91878	7.029000	0.76477	2.859000	0.98148	0.591000	0.81541	GGT		PASS	0.393	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		4	24	4	24	---	---	---	---
TMEM214	54867	broad.mit.edu	37	2	27260448	27260448	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:27260448C>G	ENST00000238788.9	+	9	1092	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	TMEM214_ENST00000404032.3_Missense_Mutation_p.Q299E	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	344					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q344E(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCAGCTGTGTCAGCTCTACCC	0.547																																						uc002ria.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)CAG>GAG		transmembrane protein 214 isoform 1							99.0	105.0	103.0					2																	27260448		1976	4165	6141	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27260448C>G		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1030C>G	2.37:g.27260448C>G	ENSP00000238788:p.Gln344Glu					TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.Q299E	p.Q344E	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			9	1140	+			344					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1030C>G	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301740	0.40694	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.42513	0.97;0.97	5.69	4.81	0.61882	.	0.240475	0.44483	D	0.000446	T	0.38612	0.1047	M	0.65975	2.015	0.30132	N	0.804725	B;B	0.20459	0.045;0.001	B;B	0.17722	0.019;0.006	T	0.42050	-0.9474	10	0.06891	T	0.86	-8.6689	13.9907	0.64364	0.1518:0.8482:0.0:0.0	.	299;344	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	E	344;299;84	ENSP00000238788:Q344E;ENSP00000384417:Q299E	ENSP00000238788:Q344E	Q	+	1	0	TMEM214	27113952	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.764000	0.47613	1.395000	0.46643	0.561000	0.74099	CAG		PASS	0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		18	61	18	61	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32712731	32712731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:32712731G>T	ENST00000421745.2	+	41	7965	c.7831G>T	c.(7831-7833)Gga>Tga	p.G2611*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2611					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.G2583*(1)|p.G2611*(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)					GTCTCCCACTGGAACAGATGA	0.328																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(7831-7833)GGA>TGA		baculoviral IAP repeat-containing 6							90.0	95.0	93.0					2																	32712731		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32712731G>T	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.7831G>T	2.37:g.32712731G>T	ENSP00000393596:p.Gly2611*						p.G2611*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			41	7965	+	Acute lymphoblastic leukemia(172;0.155)		2611					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.7831G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	50	16.806387	0.99872	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4754	0.94985	0.0:0.0:1.0:0.0	.	.	.	.	X	2611	.	ENSP00000393596:G2611X	G	+	1	0	BIRC6	32566235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.597000	0.87782	0.563000	0.77884	GGA		PASS	0.328	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	119	5	119	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32832614	32832614	+	Silent	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:32832614A>T	ENST00000421745.2	+	72	14297	c.14163A>T	c.(14161-14163)acA>acT	p.T4721T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4721					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.T4693T(1)|p.T4721T(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)					CCAGTGGCACACAGAGTTCTC	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14161-14163)ACA>ACT		baculoviral IAP repeat-containing 6							172.0	170.0	171.0					2																	32832614		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832614A>T	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.14163A>T	2.37:g.32832614A>T							p.T4721T	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			72	14297	+	Acute lymphoblastic leukemia(172;0.155)		4721					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.14163A>T	CCDS33175.2																																																																																				PASS	0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		31	137	31	137	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656932	40656932	+	Silent	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:40656932T>C	ENST00000403092.1	-	2	522	c.489A>G	c.(487-489)gcA>gcG	p.A163A	SLC8A1_ENST00000402441.1_Silent_p.A163A|SLC8A1_ENST00000408028.2_Silent_p.A163A|SLC8A1_ENST00000406785.2_Silent_p.A163A|SLC8A1_ENST00000406391.2_Silent_p.A163A|SLC8A1_ENST00000405269.1_Silent_p.A163A|SLC8A1_ENST00000542024.1_Silent_p.A163A|SLC8A1_ENST00000332839.4_Silent_p.A163A|SLC8A1_ENST00000405901.3_Silent_p.A163A|SLC8A1_ENST00000542756.1_Silent_p.A163A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	163					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A163A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGAGGTCTCCTGCAGTGAAGT	0.473																																						uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(487-489)GCA>GCG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						117.0	103.0	108.0					2																	40656932		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656932T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.489A>G	2.37:g.40656932T>C						SLC8A1_uc002rry.2_Silent_p.A163A|SLC8A1_uc002rrz.2_Silent_p.A163A|SLC8A1_uc002rsa.2_Silent_p.A163A|SLC8A1_uc002rsd.3_Silent_p.A163A|SLC8A1_uc002rsb.1_Silent_p.A163A|SLC8A1_uc010fan.1_Silent_p.A163A|SLC8A1_uc002rsc.1_Silent_p.A163A	p.A163A	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	513	-			163			Extracellular (Potential).|Alpha-1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.489A>G	CCDS1806.1																																																																																				PASS	0.473	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	41	9	41	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43986038	43986038	+	Splice_Site	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:43986038G>A	ENST00000282406.4	+	27	4051		c.e27-1			NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				tttttttttAGGCAGCTTTGC	0.428																																						uc010yny.1																			1	Unknown(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.e27-1		pleckstrin homology domain containing, family H							30.0	29.0	29.0					2																	43986038		2203	4300	6503	SO:0001630	splice_region_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43986038G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3942-1G>A	2.37:g.43986038G>A							p.R1314_splice	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			27	4025	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q5JPJ6|Q6P4Q1|Q8N3Q3	Splice_Site	SNP	ENST00000282406.4	37	c.3942_splice	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666268	0.88251	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHH2	43839542	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.680000	0.91292	0.655000	0.94253	.		PASS	0.428	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	Intron	4	15	4	15	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45826850	45826850	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:45826850C>A	ENST00000263736.4	-	4	448	c.386G>T	c.(385-387)aGg>aTg	p.R129M		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	129					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.R129M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTTTTAGTCCTTCGAACTGT	0.423																																						uc002rus.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(385-387)AGG>ATG		S1 RNA binding domain 1							339.0	305.0	317.0					2																	45826850		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826850C>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.386G>T	2.37:g.45826850C>A	ENSP00000263736:p.Arg129Met						p.R129M	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	462	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	129					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.386G>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	9.238	1.037466	0.19669	.	.	ENSG00000068784	ENST00000263736	T	0.25749	1.78	5.85	4.8	0.61643	.	0.921094	0.09337	N	0.816012	T	0.21761	0.0524	N	0.14661	0.345	0.80722	D	1	P	0.52842	0.956	P	0.46975	0.533	T	0.02505	-1.1149	10	0.72032	D	0.01	.	10.7143	0.46002	0.0:0.9009:0.0:0.0991	.	129	Q8N5C6	SRBD1_HUMAN	M	129	ENSP00000263736:R129M	ENSP00000263736:R129M	R	-	2	0	SRBD1	45680354	0.666000	0.27475	0.992000	0.48379	0.028000	0.11728	0.558000	0.23469	2.773000	0.95371	0.585000	0.79938	AGG		PASS	0.423	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		6	142	6	142	---	---	---	---
GMCL1	64395	broad.mit.edu	37	2	70064701	70064701	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:70064701A>G	ENST00000282570.3	+	2	534	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	95					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.K95E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GAGTACATCTAAATATATTTA	0.239																																						uc002sfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(283-285)AAA>GAA		germ cell-less							19.0	20.0	19.0					2																	70064701		2120	4242	6362	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70064701A>G	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.283A>G	2.37:g.70064701A>G	ENSP00000282570:p.Lys95Glu						p.K95E	NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN			2	490	+			95					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.283A>G	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031394	0.35797	.	.	ENSG00000087338	ENST00000282570	T	0.54479	0.57	4.92	4.92	0.64577	BTB/POZ fold (1);	0.050215	0.85682	D	0.000000	T	0.40448	0.1117	L	0.39020	1.185	0.44247	D	0.997099	B	0.11235	0.004	B	0.15484	0.013	T	0.22626	-1.0211	10	0.12766	T	0.61	-12.5042	12.832	0.57750	1.0:0.0:0.0:0.0	.	95	Q96IK5	GMCL1_HUMAN	E	95	ENSP00000282570:K95E	ENSP00000282570:K95E	K	+	1	0	GMCL1	69918205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.288000	0.72679	2.181000	0.69327	0.455000	0.32223	AAA		PASS	0.239	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		6	22	6	22	---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72359529	72359529	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:72359529C>A	ENST00000001146.2	-	6	1569	c.1366G>T	c.(1366-1368)Gtg>Ttg	p.V456L	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V265L|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V381L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	456					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.V456L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCCAGCTCCACCGCCAGCACC	0.657																																						uc002sih.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1366-1368)GTG>TTG		cytochrome P450, family 26, subfamily b,							44.0	40.0	41.0					2																	72359529		2203	4299	6502	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359529C>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1366G>T	2.37:g.72359529C>A	ENSP00000001146:p.Val456Leu					CYP26B1_uc010yra.1_Missense_Mutation_p.V439L|CYP26B1_uc010yrb.1_Missense_Mutation_p.V381L	p.V456L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			6	1366	-			456					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1366G>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513951	0.64522	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69040	-0.37;-0.37;-0.37	5.64	5.64	0.86602	.	0.056459	0.64402	D	0.000003	T	0.57917	0.2086	L	0.35288	1.05	0.39165	D	0.962485	B;B;B	0.25955	0.138;0.029;0.007	B;B;B	0.35899	0.141;0.213;0.05	T	0.57768	-0.7754	10	0.40728	T	0.16	-40.0331	9.1263	0.36816	0.0:0.8455:0.0:0.1545	.	381;439;456	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	L	456;265;381	ENSP00000001146:V456L;ENSP00000401465:V265L;ENSP00000443304:V381L	ENSP00000001146:V456L	V	-	1	0	CYP26B1	72213037	0.998000	0.40836	0.985000	0.45067	0.954000	0.61252	3.687000	0.54692	2.837000	0.97791	0.655000	0.94253	GTG		PASS	0.657	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		3	7	3	7	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79878739	79878739	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:79878739C>G	ENST00000402739.4	+	1	62	c.57C>G	c.(55-57)atC>atG	p.I19M	CTNNA2_ENST00000361291.4_Missense_Mutation_p.I53M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I19M|CTNNA2_ENST00000409266.1_Missense_Mutation_p.I19M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I19M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I19M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I19M|MIR4264_ENST00000583520.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	19					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.I19M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTTGGAAATCCGGACGCTAA	0.398																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(55-57)ATC>ATG		catenin, alpha 2 isoform 1							84.0	84.0	84.0					2																	79878739		1872	4096	5968	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878739C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.57C>G	2.37:g.79878739C>G	ENSP00000384638:p.Ile19Met					CTNNA2_uc010yse.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I19M|hsa-mir-4264|MI0015877_5'Flank	p.I19M	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	62	+			19					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.57C>G		.	.	.	.	.	.	.	.	.	.	C	15.27	2.782625	0.49891	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000409266;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.92	1.61	0.23674	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.90309	3.105	0.42244	D	0.991946	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.79108	0.992;0.953;0.975	T	0.65940	-0.6046	10	0.87932	D	0	.	7.546	0.27768	0.2469:0.61:0.0:0.1432	.	19;19;19	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	19;19;19;19;53;19;19;19;19	ENSP00000418191:I19M;ENSP00000419295:I19M;ENSP00000400105:I19M;ENSP00000387073:I19M;ENSP00000355398:I53M;ENSP00000384638:I19M;ENSP00000444675:I19M;ENSP00000441705:I19M	ENSP00000355398:I53M	I	+	3	3	CTNNA2	79732247	0.971000	0.33674	1.000000	0.80357	0.750000	0.42670	0.110000	0.15437	0.387000	0.25024	-0.793000	0.03317	ATC		PASS	0.398	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	64	8	64	---	---	---	---
IGKV1-5	28299	broad.mit.edu	37	2	89247247	89247247	+	RNA	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:89247247C>A	ENST00000496168.1	-	0	228							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TACCTGGGAGCCAGAGCAGCA	0.512																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							149.0	142.0	144.0					2																	89247247		1187	2503	3690			0							g.chr2:89247247C>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247247C>A						uc002stl.2_Intron								100		-									RNA	SNP	ENST00000496168.1	37	c.7937G>T																																																																																					PASS	0.512	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		28	88	28	88	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89265772	89265772	+	RNA	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:89265772C>G	ENST00000464162.1	-	0	380									immunoglobulin kappa variable 1-6																		GGGTGTGTAACACTGTGGGAG	0.512																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							131.0	131.0	131.0					2																	89265772		1889	4093	5982			0							g.chr2:89265772C>G	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265772C>G						uc002stl.2_Intron								95		-									RNA	SNP	ENST00000464162.1	37	c.7794G>C																																																																																					PASS	0.512	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		42	102	42	102	---	---	---	---
IGKV1-12	28940	broad.mit.edu	37	2	89340006	89340006	+	RNA	SNP	G	G	A	rs377371912	byFrequency	TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:89340006G>A	ENST00000480492.1	-	0	112									immunoglobulin kappa variable 1-12																		TCTGGATGTCGCATCTGGAAC	0.458													N|||	5	0.000998403	0.003	0.0	5008	,	,		16743	0.001		0.0	False		,,,				2504	0.0					uc010ytr.1																			0													Parts of antibodies, mostly variable regions.		A		28,3918		0,28,1945	183.0	142.0	155.0			2.1	0.0	2		155	0,8278		0,0,4139	no	intergenic				0,28,6084	AA,AG,GG		0.0,0.7096,0.2291			89340006	28,12196	1973	4139	6112			0							g.chr2:89340006G>A	V01577		2p11.2	2012-02-10			ENSG00000243290	ENSG00000243290		"""Immunoglobulins / IGK locus"""	5730	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV112, L19	uc011agg.1		OTTHUMG00000151643		2.37:g.89340006G>A						uc002stl.2_Intron								64		-									RNA	SNP	ENST00000480492.1	37	c.5853C>T																																																																																					PASS	0.458	IGKV1-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323392.1	NG_000834		54	162	54	162	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260124	90260124	+	RNA	SNP	T	T	C	rs536655299		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:90260124T>C	ENST00000471857.1	+	0	408									immunoglobulin kappa variable 1D-8																		GCATCCACTTTGCAAAGTGGG	0.478																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							129.0	134.0	133.0					2																	90260124		1863	4101	5964			0							g.chr2:90260124T>C	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260124T>C														30		+									RNA	SNP	ENST00000471857.1	37	c.4107T>C																																																																																					PASS	0.478	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		18	167	18	167	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	124979288	124979288	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:124979288G>T	ENST00000431078.1	+	2	453	c.89G>T	c.(88-90)tGt>tTt	p.C30F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	30	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.C30F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATAGACAACTGTGATGATCCA	0.443																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(88-90)TGT>TTT		contactin associated protein-like 5 precursor							88.0	81.0	83.0					2																	124979288		1947	4143	6090	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124979288G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.89G>T	2.37:g.124979288G>T	ENSP00000399013:p.Cys30Phe					CNTNAP5_uc010flu.2_Missense_Mutation_p.C30F	p.C30F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	2	453	+			30			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.89G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855567	0.71834	.	.	ENSG00000155052	ENST00000431078	D	0.95518	-3.73	5.5	5.5	0.81552	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000083	D	0.98441	0.9481	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99364	1.0918	10	0.87932	D	0	.	16.9287	0.86183	0.0:0.0:1.0:0.0	.	30	Q8WYK1	CNTP5_HUMAN	F	30	ENSP00000399013:C30F	ENSP00000399013:C30F	C	+	2	0	CNTNAP5	124695758	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.601000	0.67606	2.744000	0.94065	0.655000	0.94253	TGT		PASS	0.443	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	23	6	23	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137814720	137814720	+	Silent	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:137814720G>C	ENST00000409968.1	+	3	1048	c.870G>C	c.(868-870)tcG>tcC	p.S290S	THSD7B_ENST00000413152.2_Silent_p.S259S|THSD7B_ENST00000543459.1_Silent_p.S149S|THSD7B_ENST00000272643.3_Silent_p.S290S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	290						integral component of membrane (GO:0016021)		p.S259S(1)|p.S290S(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)		ATCATCATTCGAAGTCTTGGG	0.388																																						uc002tva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(775-777)TCG>TCC		thrombospondin, type I, domain containing 7B							54.0	53.0	53.0					2																	137814720		1866	4106	5972	SO:0001819	synonymous_variant	80731							g.chr2:137814720G>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.870G>C	2.37:g.137814720G>C						THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.S149S	p.S259S	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	777	+									Silent	SNP	ENST00000409968.1	37	c.777G>C																																																																																					PASS	0.388	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		6	62	6	62	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751233	162751233	+	Missense_Mutation	SNP	G	G	T	rs61748241	byFrequency	TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:162751233G>T	ENST00000446997.1	+	11	1332	c.1239G>T	c.(1237-1239)ttG>ttT	p.L413F	SLC4A10_ENST00000415876.2_Missense_Mutation_p.L383F|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L383F|SLC4A10_ENST00000535165.1_Missense_Mutation_p.W384L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.L394F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L413F|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	413					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L413F(1)|p.L383F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTAATGACTTGGTATCAGGAA	0.333																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1237-1239)TTG>TTT		solute carrier family 4, sodium bicarbonate							119.0	111.0	113.0					2																	162751233		1829	4083	5912	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751233G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1239G>T	2.37:g.162751233G>T	ENSP00000393066:p.Leu413Phe					SLC4A10_uc010fpa.1_Missense_Mutation_p.L425F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L383F|SLC4A10_uc010zcs.1_Missense_Mutation_p.L394F	p.L413F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			11	1423	+			413			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1239G>T	CCDS54411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169392|4.169392	0.78339|0.78339	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711|ENST00000535165	D;D;D;D;D|T	0.86097|0.51817	-2.07;-2.07;-2.07;-2.07;-2.07|0.69	5.43|5.43	5.43|5.43	0.79202|0.79202	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75989|0.75989	0.3925|0.3925	M|M	0.92219|0.92219	3.285|3.285	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.988;0.998;1.0|.	D;P;D;D|.	0.81914|.	0.978;0.901;0.978;0.995|.	T|T	0.78440|0.78440	-0.2203|-0.2203	10|7	0.87932|0.38643	D|T	0|0.18	.|.	19.6166|19.6166	0.95636|0.95636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	394;413;383;413|.	F8W675;E7EW28;Q6U841-2;Q6U841|.	.;.;.;S4A10_HUMAN|.	F|L	394;383;383;382;413;413;412|384	ENSP00000364664:L394F;ENSP00000395797:L383F;ENSP00000272716:L383F;ENSP00000393066:L413F;ENSP00000404486:L413F|ENSP00000437527:W384L	ENSP00000272716:L383F|ENSP00000437527:W384L	L|W	+|+	3|2	2|0	SLC4A10|SLC4A10	162459479|162459479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.372000|3.372000	0.52387|0.52387	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	TTG|TGG		PASS	0.333	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		4	46	4	46	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179702022	179702022	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:179702022C>G	ENST00000420890.2	-	23	4041	c.3924G>C	c.(3922-3924)aaG>aaC	p.K1308N	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.K733N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1308								p.K1308N(1)|p.K733N(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGCAGTACTCTTTTCCACGA	0.473																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(2197-2199)AAG>AAC		coiled-coil domain containing 141							112.0	103.0	106.0					2																	179702022		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702022C>G	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3924G>C	2.37:g.179702022C>G	ENSP00000395995:p.Lys1308Asn					CCDC141_uc002une.1_Missense_Mutation_p.K183N	p.K733N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2256	-			733					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2199G>C		.	.	.	.	.	.	.	.	.	.	C	11.09	1.536395	0.27475	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.46819	0.86;1.5;1.5	5.71	-2.61	0.06171	.	1.071880	0.07129	N	0.845263	T	0.34193	0.0889	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.004;0.01	B;B	0.14023	0.005;0.01	T	0.33675	-0.9859	10	0.42905	T	0.14	-2.0827	2.014	0.03494	0.2023:0.2122:0.383:0.2025	.	733;733	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	N	1308;752;733	ENSP00000395995:K1308N;ENSP00000344627:K752N;ENSP00000295723:K733N	ENSP00000295723:K733N	K	-	3	2	CCDC141	179410267	0.014000	0.17966	0.063000	0.19743	0.958000	0.62258	-0.894000	0.04123	-0.188000	0.10499	0.655000	0.94253	AAG		PASS	0.473	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		18	42	18	42	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206023503	206023503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:206023503G>T	ENST00000406610.2	+	11	1699	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.E498*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.E498*|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.E498*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	498	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.E498*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTCACCTTTGAGATCCCCCT	0.468																																						uc002var.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1492-1494)GAG>TAG		par-3 partitioning defective 3 homolog B isoform							113.0	110.0	111.0					2																	206023503		1880	4115	5995	SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023503G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1492G>T	2.37:g.206023503G>T	ENSP00000385848:p.Glu498*					PARD3B_uc010fub.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vao.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E498*	p.E498*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1699	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	498			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	ENST00000406610.2	37	c.1492G>T		.	.	.	.	.	.	.	.	.	.	G	38	7.238006	0.98157	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	.	.	.	X	498	.	ENSP00000340280:E498X	E	+	1	0	PARD3B	205731748	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.476000	0.97823	2.777000	0.95525	0.655000	0.94253	GAG		PASS	0.468	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		10	158	10	158	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209200098	209200098	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:209200098C>T	ENST00000264380.4	+	25	4369	c.4211C>T	c.(4210-4212)cCa>cTa	p.P1404L	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1404					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.P1404L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CGTCAGGCCCCATTAAAAGTG	0.343																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(4210-4212)CCA>CTA		phosphatidylinositol-3-phosphate 5-kinase type							165.0	172.0	170.0					2																	209200098		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209200098C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4211C>T	2.37:g.209200098C>T	ENSP00000264380:p.Pro1404Leu					PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1348L	p.P1404L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			25	4369	+			1404					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4211C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889783	0.91889	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28666	1.6;1.79	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	T	0.39820	-0.9595	10	0.27082	T	0.32	-12.6057	19.1858	0.93644	0.0:1.0:0.0:0.0	.	1404;1348	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	L	1404;980;1348	ENSP00000264380:P1404L;ENSP00000405736:P1348L	ENSP00000264380:P1404L	P	+	2	0	PIKFYVE	208908343	1.000000	0.71417	0.978000	0.43139	0.998000	0.95712	7.473000	0.81007	2.640000	0.89533	0.655000	0.94253	CCA		PASS	0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		19	72	19	72	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216251681	216251681	+	Splice_Site	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:216251681C>T	ENST00000359671.1	-	27	4335	c.4070G>A	c.(4069-4071)gGt>gAt	p.G1357D	FN1_ENST00000446046.1_Splice_Site_p.G1357D|FN1_ENST00000336916.4_Splice_Site_p.G1357D|FN1_ENST00000356005.4_Splice_Site_p.G1357D|FN1_ENST00000346544.3_Splice_Site_p.G1357D|FN1_ENST00000357009.2_Splice_Site_p.G1357D|FN1_ENST00000443816.1_Splice_Site_p.G1357D|FN1_ENST00000421182.1_Splice_Site_p.G1357D|FN1_ENST00000345488.5_Splice_Site_p.G1357D|FN1_ENST00000357867.4_Splice_Site_p.G1357D|FN1_ENST00000354785.4_Splice_Site_p.G1448D|FN1_ENST00000323926.6_Splice_Site_p.G1448D|FN1_ENST00000432072.2_Splice_Site_p.G1448D			P02751	FINC_HUMAN	fibronectin 1	1357	Cell-attachment.|Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G1448D(1)|p.G1357D(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGAATCAAGACCTGTTTTTCC	0.458																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(4342-4344)GGT>GAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						44.0	41.0	42.0					2																	216251681		2203	4300	6503	SO:0001630	splice_region_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216251681C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4070-1G>A	2.37:g.216251681C>T						FN1_uc002vfb.2_Missense_Mutation_p.G1357D|FN1_uc002vfc.2_Missense_Mutation_p.G1357D|FN1_uc002vfd.2_Missense_Mutation_p.G1448D|FN1_uc002vfe.2_Missense_Mutation_p.G1357D|FN1_uc002vff.2_Missense_Mutation_p.G1357D|FN1_uc002vfg.2_Missense_Mutation_p.G1357D|FN1_uc002vfh.2_Missense_Mutation_p.G1357D|FN1_uc002vfi.2_Missense_Mutation_p.G1448D|FN1_uc002vfj.2_Missense_Mutation_p.G1448D|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.G75D	p.G1448D	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	28	4609	-		Renal(323;0.127)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.4343G>A		.	.	.	.	.	.	.	.	.	.	C	16.70	3.195770	0.58126	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53206	0.89;2.22;0.63;0.97;2.46;0.63;2.46;0.63;0.63;0.63;1.65;0.93;1.56;0.9	6.02	5.14	0.70334	.	0.352416	0.27686	N	0.018267	T	0.54806	0.1881	L	0.31926	0.97	0.24966	N	0.991692	P;B;P;D;B;B;D;D;D	0.89917	0.754;0.056;0.798;1.0;0.085;0.026;0.995;0.997;0.999	B;B;B;D;B;B;D;D;D	0.83275	0.366;0.087;0.276;0.996;0.017;0.058;0.956;0.956;0.993	T	0.47249	-0.9132	10	0.35671	T	0.21	.	10.6681	0.45743	0.0:0.7989:0.1331:0.068	.	1448;1448;1357;1357;1357;1357;1357;1357;1448	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.	D	1357;1448;1357;1357;1448;1357;1357;1357;1357;1357;1357;1448;1357;164	ENSP00000394423:G1357D;ENSP00000323534:G1448D;ENSP00000338200:G1357D;ENSP00000350534:G1357D;ENSP00000346839:G1448D;ENSP00000352696:G1357D;ENSP00000265312:G1357D;ENSP00000273049:G1357D;ENSP00000349509:G1357D;ENSP00000410422:G1357D;ENSP00000415018:G1357D;ENSP00000399538:G1448D;ENSP00000348285:G1357D;ENSP00000416139:G164D	ENSP00000323534:G1448D	G	-	2	0	FN1	215959926	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.615000	0.36922	1.547000	0.49401	0.655000	0.94253	GGT		PASS	0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	Missense_Mutation	5	19	5	19	---	---	---	---
BHLHE40	8553	broad.mit.edu	37	3	5023083	5023083	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:5023083G>T	ENST00000256495.3	+	4	868	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA|BHLHE40-AS1_ENST00000420832.1_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	89	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|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 from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G89C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCAGACTTTGGGTCACTTGGA	0.413																																						uc003bqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(265-267)GGT>TGT		basic helix-loop-helix family, member e40							157.0	163.0	161.0					3																	5023083		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5023083G>T	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.265G>T	3.37:g.5023083G>T	ENSP00000256495:p.Gly89Cys					uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	p.G89C	NM_003670	NP_003661	O14503	BHE40_HUMAN			4	572	+			89			Helix-loop-helix motif.		Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.265G>T	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961130	0.92791	.	.	ENSG00000134107	ENST00000256495	D	0.98120	-4.73	5.35	5.35	0.76521	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99838	1.1059	10	0.87932	D	0	.	19.0677	0.93119	0.0:0.0:1.0:0.0	.	89	O14503	BHE40_HUMAN	C	89	ENSP00000256495:G89C	ENSP00000256495:G89C	G	+	1	0	BHLHE40	4998083	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.563000	0.98148	2.506000	0.84524	0.655000	0.94253	GGT		PASS	0.413	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		6	181	6	181	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14549198	14549198	+	RNA	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:14549198T>A	ENST00000273083.3	-	0	2153							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.I698F(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCCACGTGGATGGCACCAGTC	0.622																																						uc011avi.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2383-2385)ATC>TTC		glutamate receptor interacting protein 2							53.0	59.0	57.0					3																	14549198		2039	4177	6216			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14549198T>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14549198T>A						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.I326F	p.I795F	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			19	2383	-			697			PDZ 6.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.2383A>T																																																																																					PASS	0.622	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	18	8	18	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49094466	49094466	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:49094466C>G	ENST00000395443.2	-	3	1639	c.1167G>C	c.(1165-1167)atG>atC	p.M389I	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.M389I|QRICH1_ENST00000357496.2_Missense_Mutation_p.M389I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	389	Gln-rich.					nucleus (GO:0005634)		p.M389I(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTGCCATTCATGAACTGTG	0.517																																						uc010hkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1165-1167)ATG>ATC		glutamine-rich 1							123.0	107.0	112.0					3																	49094466		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094466C>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1167G>C	3.37:g.49094466C>G	ENSP00000378830:p.Met389Ile					QRICH1_uc003cvu.2_Missense_Mutation_p.M389I|QRICH1_uc003cvv.2_Missense_Mutation_p.M389I	p.M389I	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	1463	-			389			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1167G>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461079	0.63513	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.27053	0.805	0.80722	D	1	B	0.30281	0.275	B	0.29785	0.107	T	0.53272	-0.8462	9	0.56958	D	0.05	-5.9062	20.6593	0.99626	0.0:1.0:0.0:0.0	.	389	Q2TAL8	QRIC1_HUMAN	I	389	.	ENSP00000350094:M389I	M	-	3	0	QRICH1	49069470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	ATG		PASS	0.517	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		6	30	6	30	---	---	---	---
HYAL1	3373	broad.mit.edu	37	3	50338437	50338437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:50338437C>T	ENST00000266031.4	-	2	1587	c.972G>A	c.(970-972)tgG>tgA	p.W324*	HYAL3_ENST00000513170.1_5'Flank|HYAL1_ENST00000395144.2_Nonsense_Mutation_p.W324*|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000395143.2_Intron|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|HYAL1_ENST00000447605.2_Nonsense_Mutation_p.W65*|HYAL1_ENST00000320295.8_Nonsense_Mutation_p.W324*|HYAL1_ENST00000457214.2_Nonsense_Mutation_p.W142*|NAT6_ENST00000443094.2_5'Flank|NAT6_ENST00000354862.4_5'Flank|NAT6_ENST00000443842.1_5'Flank|NAT6_ENST00000417393.1_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	324					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)	p.W324*(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGTATTTTCCCAGCTCACCC	0.627																																						uc003czp.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(970-972)TGG>TGA		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						62.0	58.0	60.0					3																	50338437		2203	4300	6503	SO:0001587	stop_gained	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50338437C>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.972G>A	3.37:g.50338437C>T	ENSP00000266031:p.Trp324*					HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Nonsense_Mutation_p.W142*|HYAL1_uc003czo.2_Nonsense_Mutation_p.W65*|HYAL1_uc003czq.2_Intron|HYAL1_uc003czr.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czn.2_5'UTR|HYAL1_uc003czs.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czt.2_Nonsense_Mutation_p.W324*	p.W324*	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1104	-			324					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Nonsense_Mutation	SNP	ENST00000266031.4	37	c.972G>A	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065406	0.76187	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000457214;ENST00000447605	.	.	.	4.81	2.25	0.28309	.	0.534882	0.18962	N	0.126374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.0454	8.8972	0.35472	0.0:0.7807:0.0:0.2193	.	.	.	.	X	324;324;324;142;65	.	ENSP00000266031:W324X	W	-	3	0	HYAL1	50313441	0.000000	0.05858	0.803000	0.32268	0.996000	0.88848	-0.571000	0.05889	0.151000	0.19162	0.563000	0.77884	TGG		PASS	0.627	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			4	9	4	9	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57528591	57528591	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:57528591C>G	ENST00000351747.2	-	2	187	c.7G>C	c.(7-9)Gat>Cat	p.D3H	DNAH12_ENST00000311202.6_Missense_Mutation_p.D3H|DNAH12_ENST00000389536.4_Missense_Mutation_p.D3H	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	3	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3H(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTGTTTGCATCTGACATCTTG	0.418																																						uc003dit.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(7-9)GAT>CAT		dynein heavy chain domain 2 isoform 1							84.0	78.0	80.0					3																	57528591		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57528591C>G	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.7G>C	3.37:g.57528591C>G	ENSP00000295937:p.Asp3His					DNAH12_uc003diu.2_Missense_Mutation_p.D3H	p.D3H	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			2	188	-			3			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.7G>C		.	.	.	.	.	.	.	.	.	.	C	13.59	2.281861	0.40394	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.25749	1.94;1.78;3.22;2.67	5.2	4.33	0.51752	.	0.370449	0.23400	N	0.048598	T	0.23649	0.0572	L	0.54323	1.7	0.80722	D	1	B;B	0.24258	0.1;0.001	B;B	0.20767	0.031;0.002	T	0.07520	-1.0768	10	0.87932	D	0	.	7.8229	0.29298	0.0:0.7496:0.1625:0.0879	.	3;3	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	H	3	ENSP00000295937:D3H;ENSP00000418137:D3H;ENSP00000374187:D3H;ENSP00000312554:D3H	ENSP00000312554:D3H	D	-	1	0	DNAH12	57503631	0.161000	0.22892	1.000000	0.80357	0.940000	0.58332	0.560000	0.23500	1.339000	0.45563	-0.140000	0.14226	GAT		PASS	0.418	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		11	23	11	23	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73437214	73437214	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:73437214C>T	ENST00000263666.4	-	8	1537	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R	PDZRN3_ENST00000462146.2_Missense_Mutation_p.G132R|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G197R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G192R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G132R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	475	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.G475R(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)		ACCTCTATCCCATTAATCTTT	0.403																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1423-1425)GGG>AGG		PDZ domain containing ring finger 3							60.0	69.0	66.0					3																	73437214		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73437214C>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.1423G>A	3.37:g.73437214C>T	ENSP00000263666:p.Gly475Arg					PDZRN3_uc011bgh.1_Missense_Mutation_p.G132R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G173R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G192R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G195R	p.G475R	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)	8	1519	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	475			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1423G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.768413|4.768413	0.90020|0.90020	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.62232|.	0.04;0.04;0.04;0.04;0.04;0.04|.	4.73|4.73	4.73|4.73	0.59995|0.59995	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83608|0.83608	0.5291|0.5291	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.86808|0.86808	0.1996|0.1996	10|5	0.87932|.	D|.	0|.	.|.	17.6737|17.6737	0.88224|0.88224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	197;192;192;475|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	R|I	475;197;132;132;192;475;173|71	ENSP00000263666:G475R;ENSP00000442026:G197R;ENSP00000418168:G132R;ENSP00000418484:G132R;ENSP00000418624:G192R;ENSP00000419250:G173R|.	ENSP00000263666:G475R|.	G|M	-|-	1|3	0|0	PDZRN3|PDZRN3	73519904|73519904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	7.593000|7.593000	0.82686|0.82686	2.340000|2.340000	0.79590|0.79590	0.655000|0.655000	0.94253|0.94253	GGG|ATG		PASS	0.403	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		18	59	18	59	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96533764	96533764	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:96533764A>T	ENST00000389672.5	+	1	335	c.297A>T	c.(295-297)gaA>gaT	p.E99D	EPHA6_ENST00000542517.1_Missense_Mutation_p.E5D|EPHA6_ENST00000470610.2_Missense_Mutation_p.E99D	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	5	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E5D(2)|p.E99D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGGCTGCGAAGTCCGGGAAT	0.562																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(295-297)GAA>GAT		EPH receptor A6 isoform a							17.0	21.0	20.0					3																	96533764		1873	4027	5900	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533764A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.297A>T	3.37:g.96533764A>T	ENSP00000374323:p.Glu99Asp					EPHA6_uc003drp.1_Missense_Mutation_p.E99D	p.E99D	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			1	340	+			5					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.297A>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.32|14.32	2.501308|2.501308	0.44455|0.44455	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.75050|.	5.0;-0.9;4.48|.	5.39|5.39	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	T|T	0.29061|0.29061	0.0722|0.0722	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.29766|.	0.071;0.256|.	B;B|.	0.28709|.	0.014;0.093|.	T|T	0.03034|0.03034	-1.1080|-1.1080	9|5	0.18710|.	T|.	0.47|.	.|.	5.8053|5.8053	0.18436|0.18436	0.6013:0.0:0.3987:0.0|0.6013:0.0:0.3987:0.0	.|.	99;99|.	B3KS12;E7EU71|.	.;.|.	D|C	99;99;5|44	ENSP00000420598:E99D;ENSP00000374323:E99D;ENSP00000439758:E5D|.	ENSP00000374323:E99D|.	E|S	+|+	3|1	2|0	EPHA6|EPHA6	98016454|98016454	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	0.382000|0.382000	0.20635|0.20635	0.354000|0.354000	0.24105|0.24105	-0.353000|-0.353000	0.07706|0.07706	GAA|AGT		PASS	0.562	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		5	35	5	35	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98109533	98109533	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:98109533G>C	ENST00000383695.1	+	1	24	c.24G>C	c.(22-24)ttG>ttC	p.L8F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L8F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATCACTCCTTGATAGCTGAGT	0.388																																						uc011bgw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)TTG>TTC		olfactory receptor, family 5, subfamily K,							146.0	132.0	137.0					3																	98109533		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109533G>C		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.24G>C	3.37:g.98109533G>C	ENSP00000373194:p.Leu8Phe						p.L8F	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	24	+			8			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.24G>C	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447031	0.25987	.	.	ENSG00000206536	ENST00000383695	T	0.19394	2.15	5.35	3.52	0.40303	.	0.753469	0.10887	N	0.623124	T	0.13500	0.0327	L	0.31804	0.96	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.38779	-0.9645	10	0.09843	T	0.71	-1.7499	7.4897	0.27454	0.0904:0.1678:0.7419:0.0	.	8	A6NET4	OR5K3_HUMAN	F	8	ENSP00000373194:L8F	ENSP00000373194:L8F	L	+	3	2	OR5K3	99592223	0.000000	0.05858	0.011000	0.14972	0.072000	0.16883	-2.218000	0.01219	0.698000	0.31739	0.603000	0.83216	TTG		PASS	0.388	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	46	16	46	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100994577	100994577	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:100994577C>T	ENST00000193391.7	-	6	783	c.596G>A	c.(595-597)aGt>aAt	p.S199N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	199					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.S199N(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ATGTGGAACACTGAGAGTAGT	0.423																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(595-597)AGT>AAT		interphotoreceptor matrix proteoglycan 2							95.0	88.0	91.0					3																	100994577		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100994577C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.596G>A	3.37:g.100994577C>T	ENSP00000193391:p.Ser199Asn					IMPG2_uc011bhe.1_Missense_Mutation_p.S62N	p.S199N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			6	799	-			199			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.596G>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.031919	0.02029	.	.	ENSG00000081148	ENST00000193391	T	0.22945	1.93	5.46	2.49	0.30216	.	0.652496	0.15858	N	0.241163	T	0.13798	0.0334	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.36163	-0.9759	10	0.05351	T	0.99	-0.6793	4.7252	0.12938	0.0:0.584:0.164:0.252	.	199;199	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	199	ENSP00000193391:S199N	ENSP00000193391:S199N	S	-	2	0	IMPG2	102477267	0.802000	0.28943	0.127000	0.21898	0.034000	0.12701	0.546000	0.23284	1.329000	0.45376	0.555000	0.69702	AGT		PASS	0.423	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			10	38	10	38	---	---	---	---
ILDR1	286676	broad.mit.edu	37	3	121712684	121712684	+	Silent	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:121712684A>T	ENST00000344209.5	-	7	1038	c.912T>A	c.(910-912)ccT>ccA	p.P304P	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.P272P|ILDR1_ENST00000273691.3_Silent_p.P260P|ILDR1_ENST00000393631.1_Silent_p.P215P	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	304					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.P304P(1)|p.P260P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTTTGAGGTCAGGGGGCAGAG	0.582																																						uc003ees.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(910-912)CCT>CCA		immunoglobulin-like domain containing receptor							80.0	76.0	77.0					3																	121712684		2203	4300	6503	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712684A>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.912T>A	3.37:g.121712684A>T						ILDR1_uc003eeq.2_Silent_p.P272P|ILDR1_uc003eer.2_Silent_p.P260P|ILDR1_uc010hrg.2_Silent_p.P215P	p.P304P	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1018	-			304			Cytoplasmic (Potential).		Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.912T>A	CCDS56271.1																																																																																				PASS	0.582	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		8	34	8	34	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123044199	123044199	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:123044199G>T	ENST00000462833.1	-	8	3270	c.2058C>A	c.(2056-2058)ggC>ggA	p.G686G	ADCY5_ENST00000491190.1_Silent_p.G319G|ADCY5_ENST00000309879.5_Silent_p.G336G	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	686					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G686G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACACCTGGTTGCCACCCAGGT	0.622																																						uc003egh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2056-2058)GGC>GGA		adenylate cyclase 5							99.0	99.0	99.0					3																	123044199		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123044199G>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2058C>A	3.37:g.123044199G>T						ADCY5_uc003egg.1_Silent_p.G319G|ADCY5_uc003egi.1_Silent_p.G245G	p.G686G	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	8	2058	-			686			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2058C>A	CCDS3022.1																																																																																				PASS	0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		14	57	14	57	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127649097	127649097	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:127649097C>G	ENST00000405109.1	+	4	1930	c.1463C>G	c.(1462-1464)gCt>gGt	p.A488G	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A488G|KBTBD12_ENST00000343941.4_Missense_Mutation_p.A63G|KBTBD12_ENST00000407609.3_Missense_Mutation_p.A95G			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	488								p.A488G(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTCAGTACAGCTGTAGTCAAC	0.418																																						uc010hsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1462-1464)GCT>GGT		kelch domain containing 6							74.0	64.0	68.0					3																	127649097		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127649097C>G		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1463C>G	3.37:g.127649097C>G	ENSP00000385957:p.Ala488Gly					KBTBD12_uc003ejy.3_Missense_Mutation_p.A95G|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.A63G	p.A488G	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			3	1466	+			488			Kelch 2.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1463C>G	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427905	0.83667	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.31	5.92	5.92	0.95590	Kelch-type beta propeller (1);	0.000000	0.56097	D	0.000022	T	0.76492	0.3995	L	0.53617	1.68	0.47698	D	0.999496	P;D	0.65815	0.787;0.995	P;P	0.59115	0.612;0.852	T	0.70795	-0.4775	10	0.28530	T	0.3	.	20.3088	0.98641	0.0:1.0:0.0:0.0	.	488;63	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	G	488;95;488;63	ENSP00000385957:A488G;ENSP00000385830:A95G;ENSP00000385879:A488G;ENSP00000345478:A63G	ENSP00000345478:A63G	A	+	2	0	KBTBD12	129131787	1.000000	0.71417	0.931000	0.37212	0.945000	0.59286	4.511000	0.60462	2.805000	0.96524	0.579000	0.79373	GCT		PASS	0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		3	22	3	22	---	---	---	---
SI	6476	broad.mit.edu	37	3	164780248	164780248	+	Missense_Mutation	SNP	T	T	C	rs148454534		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:164780248T>C	ENST00000264382.3	-	9	993	c.931A>G	c.(931-933)Ata>Gta	p.I311V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	311	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.I311V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TATGTTACTATTGGAGTAGGC	0.323										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(931-933)ATA>GTA		sucrase-isomaltase	Acarbose(DB00284)	T	VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	56.0	57.0	57.0		931	-0.1	0.8	3	dbSNP_134	57	0,8598		0,0,4299	no	missense	SI	NM_001041.3	29	0,2,6500	CC,CT,TT		0.0,0.0454,0.0154	benign	311/1828	164780248	2,13002	2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164780248T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.931A>G	3.37:g.164780248T>C	ENSP00000264382:p.Ile311Val	HNSCC(35;0.089)					p.I311V	NM_001041	NP_001032	P14410	SUIS_HUMAN			9	993	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	311			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.931A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942678	0.34283	4.54E-4	0.0	ENSG00000090402	ENST00000264382	D	0.84873	-1.91	5.45	-0.0847	0.13689	Glycoside hydrolase-type carbohydrate-binding (1);	0.189095	0.53938	N	0.000044	T	0.76314	0.3970	L	0.36672	1.1	0.26017	N	0.981911	B	0.02656	0.0	B	0.06405	0.002	T	0.65804	-0.6079	10	0.62326	D	0.03	.	11.1184	0.48275	0.0:0.5674:0.0:0.4326	.	311	P14410	SUIS_HUMAN	V	311	ENSP00000264382:I311V	ENSP00000264382:I311V	I	-	1	0	SI	166262942	0.994000	0.37717	0.757000	0.31301	0.804000	0.45430	2.138000	0.42140	-0.224000	0.09928	0.477000	0.44152	ATA		PASS	0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		11	33	11	33	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189518	167189518	+	Silent	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:167189518T>C	ENST00000476257.1	-	3	403	c.105A>G	c.(103-105)caA>caG	p.Q35Q	SERPINI2_ENST00000264677.4_Silent_p.Q35Q|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.Q35Q|SERPINI2_ENST00000461846.1_Silent_p.Q35Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	35					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q35Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGGAAACCTCTTGATAAAGAT	0.393																																						uc003fer.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(103-105)CAA>CAG		serpin peptidase inhibitor, clade I (pancpin),							149.0	150.0	150.0					3																	167189518		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189518T>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.105A>G	3.37:g.167189518T>C						SERPINI2_uc003fes.1_Silent_p.Q45Q|SERPINI2_uc003fet.1_Silent_p.Q35Q	p.Q35Q	NM_006217	NP_006208	O75830	SPI2_HUMAN			1	163	-			35						Silent	SNP	ENST00000476257.1	37	c.105A>G	CCDS3200.1																																																																																				PASS	0.393	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		22	115	22	115	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169846593	169846593	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:169846593G>A	ENST00000494943.1	-	8	1699	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	PHC3_ENST00000495893.2_Missense_Mutation_p.S556L|PHC3_ENST00000467570.1_Missense_Mutation_p.S503L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	544	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S556L(1)|p.S525L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCCTCTTCTGACACCAAAGC	0.507																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1630-1632)TCA>TTA		polyhomeotic like 3							133.0	137.0	136.0					3																	169846593		1971	4158	6129	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846593G>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1631C>T	3.37:g.169846593G>A	ENSP00000420271:p.Ser544Leu					PHC3_uc003fgl.2_Missense_Mutation_p.S556L|PHC3_uc011bpq.1_Missense_Mutation_p.S503L|PHC3_uc011bpr.1_Missense_Mutation_p.S470L	p.S544L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1695	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		544			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1631C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.035794	0.75617	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.32515	1.45;1.45	5.69	5.69	0.88448	.	0.111265	0.40385	N	0.001117	T	0.48466	0.1501	L	0.40543	1.245	0.80722	D	1	D;P;D;P	0.57899	0.981;0.884;0.967;0.884	D;P;D;B	0.66351	0.943;0.482;0.916;0.396	T	0.35624	-0.9781	10	0.52906	T	0.07	-18.5557	19.8034	0.96518	0.0:0.0:1.0:0.0	.	503;503;544;556	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	L	544;556;503	ENSP00000420271:S544L;ENSP00000420294:S556L	ENSP00000419089:S503L	S	-	2	0	PHC3	171329287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.441000	0.90313	2.670000	0.90874	0.563000	0.77884	TCA		PASS	0.507	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		50	228	50	228	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172028654	172028654	+	Missense_Mutation	SNP	C	C	A	rs371840504		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:172028654C>A	ENST00000336824.4	+	11	1336	c.1237C>A	c.(1237-1239)Ctt>Att	p.L413I	FNDC3B_ENST00000415807.2_Missense_Mutation_p.L413I|FNDC3B_ENST00000416957.1_Missense_Mutation_p.L413I	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	413	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.L413I(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CACCAACTACCTTTTAGAGTG	0.318																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1237-1239)CTT>ATT		fibronectin type III domain containing 3B							185.0	190.0	189.0					3																	172028654		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172028654C>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1237C>A	3.37:g.172028654C>A	ENSP00000338523:p.Leu413Ile					FNDC3B_uc003fhz.3_Missense_Mutation_p.L413I|FNDC3B_uc003fia.2_Missense_Mutation_p.L344I	p.L413I	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	11	1409	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		413			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1237C>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337234	0.41398	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57436	0.4;0.4;0.4	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117690	0.64402	D	0.000016	T	0.28928	0.0718	N	0.02665	-0.54	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.24269	0.004;0.052	T	0.23297	-1.0192	10	0.15952	T	0.53	-20.9022	14.8099	0.69985	0.1442:0.8558:0.0:0.0	.	413;413	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	I	413	ENSP00000411242:L413I;ENSP00000338523:L413I;ENSP00000389094:L413I	ENSP00000338523:L413I	L	+	1	0	FNDC3B	173511348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.067000	0.64357	2.835000	0.97688	0.591000	0.81541	CTT		PASS	0.318	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		6	163	6	163	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172479422	172479422	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:172479422C>A	ENST00000392692.3	+	8	883	c.707C>A	c.(706-708)cCa>cAa	p.P236Q	ECT2_ENST00000540509.1_Missense_Mutation_p.P236Q|ECT2_ENST00000427830.1_Missense_Mutation_p.P205Q|ECT2_ENST00000417960.1_Missense_Mutation_p.P204Q|ECT2_ENST00000441497.2_Missense_Mutation_p.P205Q|ECT2_ENST00000232458.5_Missense_Mutation_p.P205Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	236	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.P205Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTAGGTACTCCAATTATGAAG	0.323																																						uc003fii.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(613-615)CCA>CAA		epithelial cell transforming sequence 2 oncogene							109.0	113.0	112.0					3																	172479422		2203	4299	6502	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172479422C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.707C>A	3.37:g.172479422C>A	ENSP00000376457:p.Pro236Gln					ECT2_uc010hwv.1_Missense_Mutation_p.P236Q|ECT2_uc003fih.2_Missense_Mutation_p.P204Q|ECT2_uc003fij.1_Missense_Mutation_p.P205Q|ECT2_uc003fik.1_Missense_Mutation_p.P205Q|ECT2_uc003fil.1_Missense_Mutation_p.P236Q	p.P205Q	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		7	752	+	Ovarian(172;0.00197)|Breast(254;0.158)		205			BRCT 1.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.614C>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970553	0.92919	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000441497;ENST00000540509	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.74	5.74	0.90152	BRCT (3);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.995;0.997	D;D;D;D	0.80764	0.987;0.994;0.968;0.978	D	0.92266	0.5821	10	0.87932	D	0	-13.6283	18.892	0.92408	0.0:1.0:0.0:0.0	.	236;236;205;204	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	205;236;205;204;204;205;236	ENSP00000232458:P205Q;ENSP00000376457:P236Q;ENSP00000401910:P205Q;ENSP00000415876:P204Q;ENSP00000403501:P204Q;ENSP00000412259:P205Q;ENSP00000443160:P236Q	ENSP00000232458:P205Q	P	+	2	0	ECT2	173962116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.427000	0.73378	2.694000	0.91930	0.591000	0.81541	CCA		PASS	0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		6	90	6	90	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173998368	173998368	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:173998368C>A	ENST00000457714.1	+	7	2176	c.1747C>A	c.(1747-1749)Caa>Aaa	p.Q583K	NLGN1_ENST00000361589.4_Missense_Mutation_p.Q583K|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q583K|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q623K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	600					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.Q583K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCAGAAAGACCAACTTTATCT	0.403																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1747-1749)CAA>AAA		neuroligin 1							108.0	103.0	105.0					3																	173998368		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998368C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1747C>A	3.37:g.173998368C>A	ENSP00000392500:p.Gln583Lys					NLGN1_uc003fip.1_Missense_Mutation_p.Q583K	p.Q583K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2170	+	Ovarian(172;0.0025)		600			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1747C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381649	0.42207	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	L	0.37466	1.105	0.80722	D	1	B	0.31599	0.33	B	0.30495	0.116	T	0.48210	-0.9055	10	0.40728	T	0.16	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	583	Q8N2Q7-2	.	K	583;583;583;623	ENSP00000392500:Q583K;ENSP00000354541:Q583K;ENSP00000441108:Q583K;ENSP00000385750:Q623K	ENSP00000354541:Q583K	Q	+	1	0	NLGN1	175481062	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CAA		PASS	0.403	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		5	81	5	81	---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184020467	184020467	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr3:184020467G>T	ENST00000310118.4	+	7	1422	c.864G>T	c.(862-864)gtG>gtT	p.V288V	PSMD2_ENST00000439383.1_Splice_Site_p.V158V|PSMD2_ENST00000435761.1_Splice_Site_p.V129V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V288V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTCTCCACAGGGTAGTACAGA	0.517																																					Colon(24;313 636 6917 9932 15554)	uc003fnn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)GTG>GTT		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						129.0	132.0	131.0					3																	184020467		2203	4300	6503	SO:0001630	splice_region_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184020467G>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.864-1G>T	3.37:g.184020467G>T						PSMD2_uc011brj.1_Silent_p.V129V|PSMD2_uc011brk.1_Silent_p.V158V	p.V288V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	897	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		288					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.864G>T	CCDS3258.1																																																																																				PASS	0.517	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	Silent	7	160	7	160	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691456	38691456	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:38691456C>T	ENST00000261438.5	+	4	956	c.651C>T	c.(649-651)ccC>ccT	p.P217P	KLF3_ENST00000514033.1_Silent_p.P217P	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	217	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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.P217P(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AAATGTCACCCCCCTTAATGA	0.403																																						uc003gth.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(649-651)CCC>CCT		Kruppel-like factor 3 (basic)							132.0	126.0	128.0					4																	38691456		2203	4300	6503	SO:0001819	synonymous_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691456C>T	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.651C>T	4.37:g.38691456C>T						KLF3_uc003gtg.2_Silent_p.P217P	p.P217P	NM_016531	NP_057615	P57682	KLF3_HUMAN			4	983	+			217			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	ENST00000261438.5	37	c.651C>T	CCDS3444.1																																																																																				PASS	0.403	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			20	65	20	65	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39839563	39839563	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:39839563C>A	ENST00000303538.8	-	32	4462	c.3923G>T	c.(3922-3924)gGt>gTt	p.G1308V		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.G1308V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGCTTCCAAACCCCCAGGGCT	0.448																																						uc003guv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3922-3924)GGT>GTT		PDS5, regulator of cohesion maintenance, homolog							96.0	95.0	95.0					4																	39839563		1904	4126	6030	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839563C>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3923G>T	4.37:g.39839563C>A	ENSP00000303427:p.Gly1308Val					PDS5A_uc010ifo.2_Missense_Mutation_p.G1268V	p.G1308V	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			32	4463	-			1308						Missense_Mutation	SNP	ENST00000303538.8	37	c.3923G>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369918	0.42003	.	.	ENSG00000121892	ENST00000303538	.	.	.	4.71	4.71	0.59529	.	0.382334	0.25639	N	0.029282	T	0.35595	0.0937	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.17899	-1.0354	8	.	.	.	-6.0502	13.4068	0.60917	0.0:0.8422:0.1578:0.0	.	1308	Q29RF7	PDS5A_HUMAN	V	1308	.	.	G	-	2	0	PDS5A	39515958	0.967000	0.33354	0.854000	0.33618	0.984000	0.73092	2.456000	0.44997	2.153000	0.67306	0.655000	0.94253	GGT		PASS	0.448	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		14	47	14	47	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40121557	40121558	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:40121557_40121558GA>TT	ENST00000261435.6	+	9	2242_2243	c.1826_1827GA>TT	c.(1825-1827)aGA>aTT	p.R609I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	609					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.R609I(2)|p.R609S(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TACAGCCCAAGAGACGATGAAG	0.317																																						uc003guy.3																			3	Substitution - Missense(3)		lung(3)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(1825-1827)AGA>ATA|c.(1825-1827)AGA>AGT		Nedd4 binding protein 2																																				SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40121557G>T|g.chr4:40121558A>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	Exception_encountered	4.37:g.40121557_40121558delinsTT	ENSP00000261435:p.Arg609Ile					N4BP2_uc010ifq.2_Missense_Mutation_p.R529I|N4BP2_uc010ifr.2_Missense_Mutation_p.R529I|N4BP2_uc010ifq.2_Missense_Mutation_p.R529S|N4BP2_uc010ifr.2_Missense_Mutation_p.R529S	p.R609I|p.R609S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	2164|2165	+			609					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1826G>T|c.1827A>T	CCDS3457.1																																																																																				PASS	0.317	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		8	34|33	8	33	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47746482	47746482	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:47746482G>T	ENST00000273857.4	-	5	735	c.736C>A	c.(736-738)Caa>Aaa	p.Q246K	CORIN_ENST00000508498.1_Missense_Mutation_p.Q107K|CORIN_ENST00000502252.1_Missense_Mutation_p.Q179K|CORIN_ENST00000505909.1_Missense_Mutation_p.Q246K|CORIN_ENST00000504584.1_Missense_Mutation_p.Q246K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	246	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Q246K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTTTCAGTTTGGTTTCTAAAC	0.443																																						uc003gxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(736-738)CAA>AAA		corin							174.0	179.0	178.0					4																	47746482		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47746482G>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.736C>A	4.37:g.47746482G>T	ENSP00000273857:p.Gln246Lys					CORIN_uc011bzf.1_Missense_Mutation_p.Q107K|CORIN_uc011bzg.1_Missense_Mutation_p.Q179K|CORIN_uc011bzh.1_Missense_Mutation_p.Q246K|CORIN_uc011bzi.1_Missense_Mutation_p.Q246K|CORIN_uc003gxn.3_Missense_Mutation_p.Q246K	p.Q246K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			5	829	-			246			Extracellular (Potential).|FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.736C>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.239228	0.01493	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.86	2.98	0.34508	Frizzled domain (5);	0.587313	0.18155	N	0.149980	T	0.62792	0.2457	L	0.42487	1.325	0.21064	N	0.999797	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.001;0.004;0.001;0.004	T	0.48990	-0.8985	10	0.25106	T	0.35	.	9.0462	0.36347	0.0:0.2194:0.52:0.2606	.	246;246;179;107;246	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	K	246;107;179;246;246	ENSP00000273857:Q246K;ENSP00000425597:Q107K;ENSP00000424212:Q179K;ENSP00000425401:Q246K;ENSP00000423216:Q246K	ENSP00000273857:Q246K	Q	-	1	0	CORIN	47441239	.	.	0.999000	0.59377	0.355000	0.29361	.	.	1.139000	0.42245	-0.440000	0.05779	CAA		PASS	0.443	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			7	177	7	177	---	---	---	---
AREG	374	broad.mit.edu	37	4	75312497	75312497	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:75312497G>T	ENST00000395748.3	+	2	520	c.308G>T	c.(307-309)aGa>aTa	p.R103I	AREG_ENST00000502307.1_Missense_Mutation_p.R103I|AREG_ENST00000264487.2_Missense_Mutation_p.R103I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	103					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)	p.R103I(1)		lung(4)	4			Lung(101;0.196)			GATTCAGTCAGAGGTGAGTAG	0.448																																						uc011cbl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AGA>ATA		amphiregulin preproprotein							132.0	146.0	141.0					4																	75312497		2201	4298	6499	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312497G>T	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.308G>T	4.37:g.75312497G>T	ENSP00000379097:p.Arg103Ile						p.R103I	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		2	518	+			103					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.308G>T	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088344	0.55968	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.16897	2.31;2.31;2.49	5.23	3.51	0.40186	.	0.097918	0.64402	D	0.000002	T	0.35008	0.0917	M	0.82630	2.6	0.52501	D	0.999958	P	0.51791	0.948	P	0.55577	0.779	T	0.12553	-1.0543	10	0.87932	D	0	-25.5377	8.8125	0.34976	0.1774:0.0:0.8226:0.0	.	103	P15514	AREG_HUMAN	I	103	ENSP00000379097:R103I;ENSP00000264487:R103I;ENSP00000421414:R103I	ENSP00000264487:R103I	R	+	2	0	AREG	75531361	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	2.736000	0.47385	0.707000	0.31934	0.557000	0.71058	AGA		PASS	0.448	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			6	139	6	139	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100504545	100504545	+	Silent	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:100504545T>C	ENST00000265517.5	+	3	467	c.264T>C	c.(262-264)aaT>aaC	p.N88N	MTTP_ENST00000457717.1_Silent_p.N88N|MTTP_ENST00000511045.1_Silent_p.N115N|MTTP_ENST00000422897.2_Silent_p.N88N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	88	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.N88N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGGATGTAAATGTTGAAAATG	0.343																																						uc003hvc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(262-264)AAT>AAC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						100.0	109.0	106.0					4																	100504545		2202	4299	6501	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100504545T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.264T>C	4.37:g.100504545T>C						MTTP_uc011cej.1_Silent_p.N115N|MTTP_uc003hvb.2_Silent_p.N88N	p.N88N	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	4	520	+			88			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.264T>C	CCDS3651.1																																																																																				PASS	0.343	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			12	124	12	124	---	---	---	---
DKK2	27123	broad.mit.edu	37	4	107847083	107847083	+	Missense_Mutation	SNP	C	C	A	rs370394039		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:107847083C>A	ENST00000285311.3	-	2	951	c.246G>T	c.(244-246)aaG>aaT	p.K82N	DKK2_ENST00000510463.1_Missense_Mutation_p.K36N|DKK2_ENST00000513208.1_De_novo_Start_OutOfFrame	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	82	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.K82N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTTCACACTCCTTATCACTGC	0.468																																						uc003hyi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(244-246)AAG>AAT		dickkopf homolog 2 precursor							152.0	128.0	136.0					4																	107847083		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107847083C>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.246G>T	4.37:g.107847083C>A	ENSP00000285311:p.Lys82Asn					DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.K82N	p.K82N	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	2	951	-		Hepatocellular(203;0.217)	82			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.246G>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225876	0.79576	.	.	ENSG00000155011	ENST00000285311;ENST00000510463	T;T	0.47528	0.84;0.84	5.62	4.77	0.60923	Dickkopf, N-terminal cysteine-rich (1);	0.048252	0.85682	D	0.000000	T	0.65544	0.2701	M	0.65498	2.005	0.58432	D	0.999998	D;P	0.76494	0.999;0.954	D;P	0.68943	0.961;0.741	T	0.69435	-0.5146	10	0.66056	D	0.02	-8.8508	14.5829	0.68305	0.0:0.9298:0.0:0.0702	.	82;82	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	N	82;36	ENSP00000285311:K82N;ENSP00000423797:K36N	ENSP00000285311:K82N	K	-	3	2	DKK2	108066532	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.751000	0.38339	1.506000	0.48736	0.467000	0.42956	AAG		PASS	0.468	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			5	44	5	44	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122261669	122261669	+	Missense_Mutation	SNP	C	C	T	rs200911686		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:122261669C>T	ENST00000394427.2	-	2	848	c.437G>A	c.(436-438)gGa>gAa	p.G146E	QRFPR_ENST00000334383.5_Missense_Mutation_p.G146E	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	146					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.G146E(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATGCACAAGTCCCTGGTGCCT	0.488																																						uc010inj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GGA>GAA		G protein-coupled receptor 103							142.0	119.0	127.0					4																	122261669		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122261669C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.437G>A	4.37:g.122261669C>T	ENSP00000377948:p.Gly146Glu					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.G146E|QRFPR_uc010inl.1_Missense_Mutation_p.G146E	p.G146E	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			2	816	-			146			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.437G>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892441	0.91889	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.37235	1.21;1.21	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.094256	0.64402	D	0.000001	T	0.61515	0.2353	M	0.81341	2.54	0.58432	D	0.999998	D;P;P	0.63880	0.993;0.77;0.953	P;P;P	0.60541	0.876;0.609;0.628	T	0.67031	-0.5773	10	0.72032	D	0.01	.	18.9987	0.92824	0.0:1.0:0.0:0.0	.	146;146;146	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	E	146	ENSP00000377948:G146E;ENSP00000335610:G146E	ENSP00000335610:G146E	G	-	2	0	QRFPR	122481119	1.000000	0.71417	0.931000	0.37212	0.964000	0.63967	7.336000	0.79245	2.464000	0.83262	0.579000	0.79373	GGA		PASS	0.488	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		10	26	10	26	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144457612	144457612	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:144457612C>A	ENST00000283131.3	+	11	1738	c.1276C>A	c.(1276-1278)Cgg>Agg	p.R426R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	426					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R426R(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TAGGTATACTCGGATATTAAT	0.363																																						uc003ijg.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1276-1278)CGG>AGG		SWI/SNF-related matrix-associated							66.0	66.0	66.0					4																	144457612		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144457612C>A	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1276C>A	4.37:g.144457612C>A							p.R426R	NM_003601	NP_003592	O60264	SMCA5_HUMAN			11	1738	+	all_hematologic(180;0.158)		426						Silent	SNP	ENST00000283131.3	37	c.1276C>A	CCDS3761.1																																																																																				PASS	0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			4	36	4	36	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153245437	153245437	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:153245437C>G	ENST00000281708.4	-	11	2983	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	FBXW7_ENST00000263981.5_Missense_Mutation_p.S505T|FBXW7_ENST00000603548.1_Missense_Mutation_p.S585T|FBXW7_ENST00000603841.1_Missense_Mutation_p.S585T|FBXW7_ENST00000393956.3_Missense_Mutation_p.S409T|FBXW7_ENST00000296555.5_Missense_Mutation_p.S467T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	585					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S585T(2)|p.S467T(1)|p.S346T(1)|p.?(1)|p.S505T(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTCCATTCCACTTGTTAACGA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Missense(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1753-1755)AGT>ACT		F-box and WD repeat domain containing 7 isoform							152.0	130.0	137.0					4																	153245437		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153245437C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1754G>C	4.37:g.153245437C>G	ENSP00000281708:p.Ser585Thr					FBXW7_uc011cii.1_Missense_Mutation_p.S585T|FBXW7_uc003imt.2_Missense_Mutation_p.S585T|FBXW7_uc011cih.1_Missense_Mutation_p.S409T|FBXW7_uc003imq.2_Missense_Mutation_p.S505T|FBXW7_uc003imr.2_Missense_Mutation_p.S467T	p.S585T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			11	1903	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	585			WD 6.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1754G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394316	0.83011	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	N	0.16368	0.405	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79108	0.988;0.992;0.979;0.979	T	0.64394	-0.6418	10	0.54805	T	0.06	-17.3093	19.8381	0.96666	0.0:1.0:0.0:0.0	.	409;585;467;505	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	T	585;467;505;409	ENSP00000281708:S585T;ENSP00000296555:S467T;ENSP00000263981:S505T;ENSP00000377528:S409T	ENSP00000263981:S505T	S	-	2	0	FBXW7	153464887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.650000	0.86243	AGT		PASS	0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			3	19	3	19	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177052851	177052851	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:177052851G>T	ENST00000280190.4	+	8	1288	c.1132G>T	c.(1132-1134)Gat>Tat	p.D378Y	WDR17_ENST00000507824.2_Missense_Mutation_p.D361Y|WDR17_ENST00000393643.2_Missense_Mutation_p.D354Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D354Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	378								p.D378Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGACTTTATGATATGGGAGC	0.383																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1132-1134)GAT>TAT		WD repeat domain 17 isoform 1							281.0	273.0	276.0					4																	177052851		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052851G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1132G>T	4.37:g.177052851G>T	ENSP00000280190:p.Asp378Tyr					WDR17_uc003iuk.2_Missense_Mutation_p.D354Y|WDR17_uc003ium.3_Missense_Mutation_p.D354Y|WDR17_uc003iul.1_Intron	p.D378Y	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	8	1288	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	378					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1132G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.038688|4.038688	0.75617|0.75617	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000505894	T;T;T|.	0.62364|.	0.06;0.09;0.03|.	5.45|5.45	4.61|4.61	0.57282|0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46718|0.46718	0.1407|0.1407	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.39961|0.39961	-0.9588|-0.9588	10|5	0.62326|.	D|.	0.03|.	-22.098|-22.098	14.594|14.594	0.68392|0.68392	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	354;378|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	Y|I	354;354;378;361|126	ENSP00000422763:D354Y;ENSP00000377258:D354Y;ENSP00000280190:D378Y|.	ENSP00000280190:D378Y|.	D|M	+|+	1|3	0|0	WDR17|WDR17	177289845|177289845	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	7.338000|7.338000	0.79269|0.79269	1.449000|1.449000	0.47699|0.47699	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			34	84	34	84	---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186263206	186263206	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr4:186263206C>G	ENST00000504273.1	+	12	1925	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	SNX25_ENST00000264694.8_Missense_Mutation_p.T544S|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	544	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.T544S(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GGAGTTGAAACTAAGAACTGG	0.423																																						uc003ixh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1630-1632)ACT>AGT		sorting nexin 25							163.0	161.0	162.0					4																	186263206		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263206C>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1631C>G	4.37:g.186263206C>G	ENSP00000426255:p.Thr544Ser					SNX25_uc010ish.2_Missense_Mutation_p.T315S|SNX25_uc003ixi.2_Missense_Mutation_p.T48S	p.T544S	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1820	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	544			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1631C>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	5.255	0.232581	0.09969	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.27890	1.64;1.64	5.66	4.76	0.60689	Phox homologous domain (5);	0.305092	0.27956	N	0.017168	T	0.09379	0.0231	N	0.01202	-0.96	0.32582	N	0.528278	B;B;B	0.21520	0.021;0.009;0.057	B;B;B	0.21360	0.029;0.011;0.034	T	0.16012	-1.0417	10	0.02654	T	1	-6.0509	11.1331	0.48358	0.143:0.7191:0.1379:0.0	.	315;77;544	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	S	544;544;77	ENSP00000426255:T544S;ENSP00000264694:T544S	ENSP00000264693:T77S	T	+	2	0	SNX25	186500200	0.995000	0.38212	0.999000	0.59377	0.996000	0.88848	3.231000	0.51294	2.671000	0.90904	0.643000	0.83706	ACT		PASS	0.423	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		32	106	32	106	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1232344	1232344	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:1232344C>T	ENST00000324642.3	+	2	294	c.171C>T	c.(169-171)ctC>ctT	p.L57L	SLC6A18_ENST00000296821.4_Silent_p.L57L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	57					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.L57L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCCTTCCTCATCCCCTACG	0.687																																						uc003jby.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)CTC>CTT		solute carrier family 6, member 18							44.0	44.0	44.0					5																	1232344		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232344C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.171C>T	5.37:g.1232344C>T							p.L57L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	294	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		57			Helical; Name=2; (Potential).			Silent	SNP	ENST00000324642.3	37	c.171C>T	CCDS3860.1																																																																																				PASS	0.687	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		4	7	4	7	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852313	40852313	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:40852313G>C	ENST00000254691.5	+	3	1078	c.879G>C	c.(877-879)ttG>ttC	p.L293F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	293					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.L293F(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						TGTTATGTTTGAACATGGATA	0.398																																						uc003jmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(877-879)TTG>TTC		caspase recruitment domain family, member 6							78.0	76.0	77.0					5																	40852313		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852313G>C	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.879G>C	5.37:g.40852313G>C	ENSP00000254691:p.Leu293Phe						p.L293F	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	954	+			293					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.879G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328987	0.60743	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.30714	1.52	5.21	3.45	0.39498	.	0.000000	0.45606	D	0.000355	T	0.50582	0.1624	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.49542	-0.8929	10	0.66056	D	0.02	-11.2666	7.9833	0.30196	0.1831:0.0:0.8169:0.0	.	293	Q9BX69	CARD6_HUMAN	F	293	ENSP00000254691:L293F	ENSP00000254691:L293F	L	+	3	2	CARD6	40888070	0.997000	0.39634	0.993000	0.49108	0.989000	0.77384	0.621000	0.24418	0.793000	0.33875	0.655000	0.94253	TTG		PASS	0.398	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			10	41	10	41	---	---	---	---
CCDC125	202243	broad.mit.edu	37	5	68616152	68616152	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:68616152C>A	ENST00000396496.2	-	2	323	c.216G>T	c.(214-216)gcG>gcT	p.A72A	CCDC125_ENST00000383374.2_Silent_p.A72A|CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Silent_p.A72A			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	72						cytoplasm (GO:0005737)		p.A72A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACTGAAAACTCGCTTCATTTC	0.388																																						uc003jvv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)GCG>GCT		coiled-coil domain containing 125							194.0	188.0	190.0					5																	68616152		2203	4300	6503	SO:0001819	synonymous_variant	202243					cytoplasm		g.chr5:68616152C>A	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.216G>T	5.37:g.68616152C>A						CCDC125_uc003jvx.1_Silent_p.A72A|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Silent_p.A72A	p.A72A	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	259	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	72					Q86Z19	Silent	SNP	ENST00000396496.2	37	c.216G>T	CCDS4000.1																																																																																				PASS	0.388	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		4	133	4	133	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70835476	70835476	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:70835476G>T	ENST00000358731.4	+	28	6285	c.6022G>T	c.(6022-6024)Gta>Tta	p.V2008L	BDP1_ENST00000380675.2_Splice_Site_p.G145*	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2008					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V2008L(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGGGTGATGGTAAGAATGA	0.358																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(6022-6024)GTA>TTA		transcription factor-like nuclear regulator							80.0	74.0	76.0					5																	70835476		1854	4103	5957	SO:0001630	splice_region_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70835476G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6022+1G>T	5.37:g.70835476G>T						BDP1_uc003kbo.2_Missense_Mutation_p.V2008L|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_Intron	p.V2008L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	28	6285	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2008					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6022G>T	CCDS43328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.155459|6.155459	0.97334|0.97334	.|.	.|.	ENSG00000145734|ENSG00000145734	ENST00000380675;ENST00000545546|ENST00000358731	.|T	.|0.17370	.|2.28	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|1.011940	.|0.07924	.|N	.|0.976366	.|T	.|0.34978	.|0.0916	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	A|A	1|1	.|D;D	.|0.64830	.|0.994;0.994	.|P;P	.|0.61397	.|0.888;0.888	.|T	.|0.21348	.|-1.0248	.|9	0.48119|0.87932	T|D	0.1|0	.|.	14.4333|14.4333	0.67266|0.67266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2008;2008	.|A6H8Y1;A6H8Y1-2	.|BDP1_HUMAN;.	X|L	145|2008	.|ENSP00000351575:V2008L	ENSP00000370050:G145X|ENSP00000351575:V2008L	G|V	+|+	1|1	0|0	BDP1|BDP1	70871232|70871232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.393000|4.393000	0.59665|0.59665	2.481000|2.481000	0.83766|0.83766	0.655000|0.655000	0.94253|0.94253	GGA|GTA		PASS	0.358	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	Missense_Mutation	7	25	7	25	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70855849	70855849	+	Silent	SNP	A	A	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:70855849A>C	ENST00000358731.4	+	37	7544	c.7281A>C	c.(7279-7281)ggA>ggC	p.G2427G	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2427					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G2427G(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTACCTCAGGAAGCACACTGA	0.418																																						uc003kbp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(7279-7281)GGA>GGC		transcription factor-like nuclear regulator							109.0	97.0	101.0					5																	70855849		1912	4122	6034	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70855849A>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7281A>C	5.37:g.70855849A>C						BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.G2427G	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7544	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2427					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.7281A>C	CCDS43328.1																																																																																				PASS	0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		14	63	14	63	---	---	---	---
MRPS27	23107	broad.mit.edu	37	5	71521968	71521968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:71521968C>T	ENST00000261413.5	-	9	792	c.753G>A	c.(751-753)tgG>tgA	p.W251*	MRPS27_ENST00000457646.4_Nonsense_Mutation_p.W195*|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Nonsense_Mutation_p.W265*	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	251						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.W251*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AGCCTGGTTTCCATATCAGAG	0.498																																						uc003kbz.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(751-753)TGG>TGA		mitochondrial ribosomal protein S27							114.0	106.0	109.0					5																	71521968		2203	4300	6503	SO:0001587	stop_gained	23107					mitochondrion|ribosome		g.chr5:71521968C>T	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.753G>A	5.37:g.71521968C>T	ENSP00000261413:p.Trp251*					MRPS27_uc003kca.3_Nonsense_Mutation_p.W195*|MRPS27_uc011cse.1_Nonsense_Mutation_p.W265*|MRPS27_uc011csd.1_Nonsense_Mutation_p.W32*|MRPS27_uc010iyz.1_RNA	p.W251*	NM_015084	NP_055899	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	9	789	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	251					B4DRT2|Q6P1S1	Nonsense_Mutation	SNP	ENST00000261413.5	37	c.753G>A	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765385	0.96906	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0615	20.0203	0.97492	0.0:1.0:0.0:0.0	.	.	.	.	X	251;195;265;195	.	ENSP00000261413:W251X	W	-	3	0	MRPS27	71557724	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	6.503000	0.73699	2.730000	0.93505	0.655000	0.94253	TGG		PASS	0.498	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		14	42	14	42	---	---	---	---
HMGCR	3156	broad.mit.edu	37	5	74654482	74654482	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:74654482G>T	ENST00000287936.4	+	16	2143	c.1987G>T	c.(1987-1989)Ggt>Tgt	p.G663C	HMGCR_ENST00000511206.1_Splice_Site_p.G663C|HMGCR_ENST00000343975.5_Splice_Site_p.G610C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	663	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.G663C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGTTAACAGGGTACAGAGAA	0.348																																						uc003kdp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1987-1989)GGT>TGT		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						117.0	119.0	118.0					5																	74654482		2203	4300	6503	SO:0001630	splice_region_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74654482G>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1987-1G>T	5.37:g.74654482G>T						HMGCR_uc011cst.1_Missense_Mutation_p.G683C|HMGCR_uc003kdq.2_Missense_Mutation_p.G610C|HMGCR_uc010izo.2_5'UTR|HMGCR_uc010izp.2_5'UTR	p.G663C	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	16	2143	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	663			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1987G>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531671	0.85706	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	T;T;T	0.49432	0.78;0.78;0.78	5.77	5.77	0.91146	Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding (2);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.045277	0.85682	D	0.000000	T	0.72137	0.3423	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.988;0.98;0.993	T	0.73474	-0.3971	9	.	.	.	-19.2047	18.1786	0.89769	0.0:0.0:1.0:0.0	.	663;610;663	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	C	663;594;663;610;40	ENSP00000426745:G663C;ENSP00000287936:G663C;ENSP00000340816:G610C	.	G	+	1	0	HMGCR	74690238	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.869000	0.99810	2.729000	0.93468	0.655000	0.94253	GGT		PASS	0.348	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		Missense_Mutation	5	66	5	66	---	---	---	---
BHMT	635	broad.mit.edu	37	5	78423633	78423633	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:78423633C>A	ENST00000274353.5	+	7	971	c.864C>A	c.(862-864)gcC>gcA	p.A288A	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Silent_p.A135A	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	288	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.A288A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCAGAGAGGCCTACAACCTGG	0.502																																						uc003kfu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(862-864)GCC>GCA		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						46.0	50.0	48.0					5																	78423633		2203	4298	6501	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78423633C>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.864C>A	5.37:g.78423633C>A						BHMT_uc011cti.1_Silent_p.A135A	p.A288A	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	7	969	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	288			Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.864C>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	3.640	-0.073714	0.07184	.	.	ENSG00000145692	ENST00000436224	.	.	.	5.14	3.35	0.38373	.	.	.	.	.	T	0.62853	0.2462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61422	-0.7066	5	0.54805	T	0.06	-3.7895	8.7529	0.34629	0.0:0.6401:0.0:0.3599	.	.	.	.	H	135	.	ENSP00000405681:P135H	P	+	2	0	BHMT	78459389	1.000000	0.71417	0.997000	0.53966	0.316000	0.28119	1.205000	0.32308	0.660000	0.30964	-0.157000	0.13467	CCT		PASS	0.502	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		11	36	11	36	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82948608	82948608	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:82948608G>T	ENST00000274341.4	-	3	986	c.136C>A	c.(136-138)Caa>Aaa	p.Q46K	HAPLN1_ENST00000514416.1_Missense_Mutation_p.Q46K	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	46	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.Q46K(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)	ACCTTGGCTTGCTCTGCTTCC	0.353																																						uc003kim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(136-138)CAA>AAA		hyaluronan and proteoglycan link protein 1							47.0	48.0	48.0					5																	82948608		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948608G>T		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.136C>A	5.37:g.82948608G>T	ENSP00000274341:p.Gln46Lys					HAPLN1_uc003kin.2_Missense_Mutation_p.Q46K	p.Q46K	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)	2	207	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	46			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.136C>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804851	0.50315	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	6.07	6.07	0.98685	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048523	0.85682	D	0.000000	T	0.53850	0.1822	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.51293	-0.8724	10	0.08837	T	0.75	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	46	P10915	HPLN1_HUMAN	K	46;46;46;45;46;46;46	ENSP00000274341:Q46K;ENSP00000422592:Q46K;ENSP00000421341:Q46K;ENSP00000426610:Q45K;ENSP00000422522:Q46K;ENSP00000421726:Q46K;ENSP00000423836:Q46K	ENSP00000274341:Q46K	Q	-	1	0	HAPLN1	82984364	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.167000	0.71902	2.890000	0.99128	0.650000	0.86243	CAA		PASS	0.353	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		11	29	11	29	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102513644	102513644	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:102513644T>C	ENST00000358359.3	+	23	3226	c.2717T>C	c.(2716-2718)tTg>tCg	p.L906S	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L906S|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L906S	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	906					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.L906S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACAAAAATTTGCCATCTGGC	0.393																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2716-2718)TTG>TCG		Histidine acid phosphatase domain containing 1							76.0	75.0	75.0					5																	102513644		2202	4297	6499	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102513644T>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2717T>C	5.37:g.102513644T>C	ENSP00000351126:p.Leu906Ser					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.L906S|PPIP5K2_uc003kof.2_Missense_Mutation_p.L207S	p.L906S	NM_015216	NP_056031	O43314	VIP2_HUMAN			23	3236	+			906					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2717T>C		.	.	.	.	.	.	.	.	.	.	T	15.08	2.727546	0.48833	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.25414	2.36;2.37;2.36;1.8	6.07	4.89	0.63831	.	0.000000	0.53938	D	0.000059	T	0.27098	0.0664	L	0.61218	1.895	0.43885	D	0.996501	B;B;B	0.33549	0.417;0.354;0.399	B;B;B	0.35607	0.206;0.205;0.147	T	0.05451	-1.0884	10	0.54805	T	0.06	.	7.8184	0.29274	0.0:0.0684:0.1401:0.7915	.	921;906;906	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	S	906;906;921;906;180	ENSP00000313070:L906S;ENSP00000351126:L906S;ENSP00000416016:L906S;ENSP00000424948:L180S	ENSP00000313070:L906S	L	+	2	0	PPIP5K2	102541543	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	4.022000	0.57203	1.081000	0.41110	0.533000	0.62120	TTG		PASS	0.393	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		8	87	8	87	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129015459	129015459	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:129015459C>A	ENST00000274487.4	+	17	2636	c.2491C>A	c.(2491-2493)Ctc>Atc	p.L831I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	831	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L831I(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTTATAGCTCTCCGAGATGC	0.348																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2491-2493)CTC>ATC		ADAM metallopeptidase with thrombospondin type 1							68.0	73.0	71.0					5																	129015459		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129015459C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2491C>A	5.37:g.129015459C>A	ENSP00000274487:p.Leu831Ile					ADAMTS19_uc010jdh.1_RNA	p.L831I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	17	2491	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	831			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2491C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526973	0.64860	.	.	ENSG00000145808	ENST00000274487	T	0.59364	0.27	4.39	4.39	0.52855	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000010	T	0.65112	0.2660	L	0.45470	1.425	0.52099	D	0.999941	D	0.55605	0.972	P	0.56216	0.794	T	0.62835	-0.6770	9	.	.	.	.	18.2621	0.90039	0.0:1.0:0.0:0.0	.	831	Q8TE59	ATS19_HUMAN	I	831	ENSP00000274487:L831I	.	L	+	1	0	ADAMTS19	129043358	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.321000	0.51999	2.717000	0.92951	0.650000	0.86243	CTC		PASS	0.348	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		15	51	15	51	---	---	---	---
REEP2	51308	broad.mit.edu	37	5	137780462	137780462	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:137780462C>T	ENST00000254901.5	+	5	445	c.323C>T	c.(322-324)aCg>aTg	p.T108M	REEP2_ENST00000506158.1_Missense_Mutation_p.T70M|REEP2_ENST00000378339.2_Missense_Mutation_p.T108M	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	108					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.T108M(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGTACATCACGCAGGCCCGA	0.602																																						uc003lcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)ACG>ATG		receptor accessory protein 2							75.0	63.0	67.0					5																	137780462		2203	4300	6503	SO:0001583	missense	51308					integral to membrane		g.chr5:137780462C>T	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.323C>T	5.37:g.137780462C>T	ENSP00000254901:p.Thr108Met					REEP2_uc003lda.2_Missense_Mutation_p.T108M|REEP2_uc011cyt.1_Missense_Mutation_p.T69M	p.T108M	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	445	+			108					Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	c.323C>T	CCDS4205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.970469|2.970469	0.53614|0.53614	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000512126|ENST00000378339;ENST00000254901;ENST00000506158	.|D;D;T	.|0.87650	.|-2.28;-2.27;-1.43	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	.|0.053194	.|0.85682	.|D	.|0.000000	D|D	0.83658|0.83658	0.5302|0.5302	L|L	0.43152|0.43152	1.355|1.355	0.51233|0.51233	D|D	0.999919|0.999919	.|P;P	.|0.50617	.|0.937;0.937	.|B;B	.|0.43809	.|0.432;0.411	D|D	0.84190|0.84190	0.0444|0.0444	5|10	.|0.45353	.|T	.|0.12	-10.3601|-10.3601	13.7728|13.7728	0.63036|0.63036	0.0:0.8448:0.1551:0.0|0.0:0.8448:0.1551:0.0	.|.	.|108;108	.|A8K3D2;Q9BRK0	.|.;REEP2_HUMAN	C|M	146|108;108;70	.|ENSP00000367590:T108M;ENSP00000254901:T108M;ENSP00000422530:T70M	.|ENSP00000254901:T108M	R|T	+|+	1|2	0|0	REEP2|REEP2	137808361|137808361	0.993000|0.993000	0.37304|0.37304	0.962000|0.962000	0.40283|0.40283	0.554000|0.554000	0.35429|0.35429	3.075000|3.075000	0.50073|0.50073	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	CGC|ACG		PASS	0.602	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		7	29	7	29	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572150	140572150	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:140572150C>A	ENST00000239446.4	+	1	209	c.25C>A	c.(25-27)Cca>Aca	p.P9T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	9					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.P9S(1)|p.P9T(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)			GTTGTGCTTCCCAAGACAAAG	0.473																																						uc003lix.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(25-27)CCA>ACA		protocadherin beta 10 precursor							112.0	117.0	116.0					5																	140572150		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.chr5:140572150C>A	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.25C>A	5.37:g.140572150C>A	ENSP00000239446:p.Pro9Thr						p.P9T	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	199	+			9					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.25C>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	7.875	0.728930	0.15507	.	.	ENSG00000120324	ENST00000239446	T	0.46063	0.88	3.01	-4.91	0.03085	.	.	.	.	.	T	0.22898	0.0553	N	0.20483	0.58	0.09310	N	1	B	0.28233	0.204	B	0.24701	0.055	T	0.25916	-1.0118	9	0.13853	T	0.58	.	12.489	0.55889	0.0:0.2368:0.0:0.7632	.	9	Q9UN67	PCDBA_HUMAN	T	9	ENSP00000239446:P9T	ENSP00000239446:P9T	P	+	1	0	PCDHB10	140552334	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-0.576000	0.05854	-1.418000	0.02014	-1.127000	0.01993	CCA		PASS	0.473	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		6	87	6	87	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784058	140784058	+	Silent	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:140784058G>C	ENST00000573521.1	+	1	1539	c.1539G>C	c.(1537-1539)gtG>gtC	p.V513V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGTGTGCTGTATGCTC	0.458																																						uc003lkh.1																			0					0						c.(1537-1539)GTG>GTC		protocadherin gamma subfamily A, 9 isoform 1							52.0	53.0	52.0					5																	140784058		2031	4214	6245	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784058G>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1539G>C	5.37:g.140784058G>C						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_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.V513V	p.V513V	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1539	+			513			Extracellular (Potential).|Cadherin 5.		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1539G>C	CCDS58981.1																																																																																				PASS	0.458	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		9	43	9	43	---	---	---	---
PDE6A	5145	broad.mit.edu	37	5	149276332	149276332	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:149276332C>A	ENST00000255266.5	-	11	1534	c.1415G>T	c.(1414-1416)aGa>aTa	p.R472I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	472					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.R472I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	ATACACCTCTCTGGTTTTCTG	0.522																																						uc003lrg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1414-1416)AGA>ATA		phosphodiesterase 6A							130.0	127.0	128.0					5																	149276332		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149276332C>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1415G>T	5.37:g.149276332C>A	ENSP00000255266:p.Arg472Ile						p.R472I	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	1535	-			472					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1415G>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863859	0.91511	.	.	ENSG00000132915	ENST00000255266	T	0.63255	-0.03	5.9	5.9	0.94986	.	0.167314	0.47455	D	0.000231	T	0.74405	0.3712	M	0.81802	2.56	0.80722	D	1	P	0.52692	0.955	P	0.55871	0.786	T	0.77419	-0.2595	10	0.72032	D	0.01	.	11.086	0.48086	0.0:0.9166:0.0:0.0834	.	472	P16499	PDE6A_HUMAN	I	472	ENSP00000255266:R472I	ENSP00000255266:R472I	R	-	2	0	PDE6A	149256525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.932000	0.48940	2.804000	0.96469	0.655000	0.94253	AGA		PASS	0.522	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			6	138	6	138	---	---	---	---
HMMR	3161	broad.mit.edu	37	5	162910151	162910151	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr5:162910151G>C	ENST00000358715.3	+	14	1691	c.1655G>C	c.(1654-1656)aGa>aCa	p.R552T	HMMR_ENST00000432118.2_Missense_Mutation_p.R466T|HMMR_ENST00000353866.3_Missense_Mutation_p.R537T|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.R553T|RP11-80G7.1_ENST00000521666.1_RNA			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	552					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.R552T(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAAGACTTTAGAAAACAGCTG	0.333																																						uc003lzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1654-1656)AGA>ACA		hyaluronan-mediated motility receptor isoform b							54.0	55.0	55.0					5																	162910151		2203	4299	6502	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162910151G>C	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1655G>C	5.37:g.162910151G>C	ENSP00000351554:p.Arg552Thr					HMMR_uc003lzh.2_Missense_Mutation_p.R553T|HMMR_uc003lzg.2_Missense_Mutation_p.R537T|HMMR_uc011dem.1_Missense_Mutation_p.R466T|uc003lzi.2_RNA	p.R552T	NM_012484	NP_036616	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	14	1837	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	552					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.1655G>C	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	8.561	0.877766	0.17395	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.23147	1.92;3.27;1.92;1.92;3.27	5.33	-1.14	0.09741	.	1.010110	0.07912	N	0.974408	T	0.20007	0.0481	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.20459	0.009;0.007;0.045;0.011	B;B;B;B	0.14578	0.008;0.005;0.011;0.007	T	0.32613	-0.9900	10	0.59425	D	0.04	-0.626	5.7331	0.18051	0.6355:0.0:0.2476:0.117	.	466;553;537;552	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	T	438;537;553;529;466;552	ENSP00000400527:R438T;ENSP00000185942:R537T;ENSP00000377492:R553T;ENSP00000402673:R466T;ENSP00000351554:R552T	ENSP00000185942:R537T	R	+	2	0	HMMR	162842729	0.098000	0.21812	0.112000	0.21494	0.430000	0.31655	0.539000	0.23175	-0.339000	0.08401	-0.140000	0.14226	AGA		PASS	0.333	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		19	66	19	66	---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3287237	3287237	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:3287237C>T	ENST00000406686.3	-	7	1401	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	SLC22A23_ENST00000436008.2_Missense_Mutation_p.D468N|SLC22A23_ENST00000380302.4_Missense_Mutation_p.D187N|SLC22A23_ENST00000490273.1_Missense_Mutation_p.D187N|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	468					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.D187N(1)|p.D468N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GTATAGTAGTCAGCATAGAAG	0.612																																						uc003mvm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1402-1404)GAC>AAC		solute carrier family 22, member 23 isoform a							151.0	102.0	118.0					6																	3287237		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287237C>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1402G>A	6.37:g.3287237C>T	ENSP00000385028:p.Asp468Asn					uc003mvi.1_RNA|SLC22A23_uc003mvn.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvo.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.D468N|SLC22A23_uc003mvq.1_RNA	p.D468N	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN			7	1402	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	468			Helical; (Potential).		A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1402G>A	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	C	9.299	1.052493	0.19907	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	4.67	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.150543	0.64402	D	0.000018	T	0.29652	0.0740	N	0.14661	0.345	0.80722	D	1	B;B	0.23806	0.091;0.044	B;B	0.25140	0.058;0.042	T	0.24190	-1.0167	10	0.02654	T	1	-37.9828	11.2818	0.49199	0.0:0.9166:0.0:0.0834	.	468;468	C9J4Z0;A1A5C7	.;S22AN_HUMAN	N	468;468;187;187;296;294	ENSP00000410245:D468N;ENSP00000385028:D468N;ENSP00000369657:D187N;ENSP00000419463:D187N;ENSP00000418134:D296N;ENSP00000418985:D294N	ENSP00000369657:D187N	D	-	1	0	SLC22A23	3232236	0.997000	0.39634	0.951000	0.38953	0.333000	0.28666	3.448000	0.52943	2.427000	0.82271	0.655000	0.94253	GAC		PASS	0.612	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		13	27	13	27	---	---	---	---
HIST1H4H	8365	broad.mit.edu	37	6	26285637	26285637	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:26285637T>C	ENST00000377727.1	-	1	100	c.91A>G	c.(91-93)Act>Gct	p.T31A	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.T31A	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	31					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.T31A(1)		lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GCTGGCTTAGTGATGCCCTGG	0.532										HNSCC(76;0.23)																												uc003nhm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(91-93)ACT>GCT		histone cluster 1, H4h							117.0	109.0	112.0					6																	26285637		2203	4300	6503	SO:0001583	missense	8365				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26285637T>C	X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.91A>G	6.37:g.26285637T>C	ENSP00000366956:p.Thr31Ala	HNSCC(76;0.23)				HIST1H4H_uc003nhl.1_RNA	p.T31A	NM_003543	NP_003534	P62805	H4_HUMAN			1	91	-			31					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377727.1	37	c.91A>G	CCDS4604.1	.	.	.	.	.	.	.	.	.	.	.	17.64	3.439641	0.63067	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.68624	-0.34;-0.34	4.4	4.4	0.53042	.	0.000000	0.52532	U	0.000074	T	0.63988	0.2558	.	.	.	0.34426	D	0.697988	.	.	.	.	.	.	T	0.70103	-0.4964	7	0.59425	D	0.04	.	11.8938	0.52646	0.0:0.0:0.0:1.0	.	.	.	.	A	31	ENSP00000289352:T31A;ENSP00000366956:T31A	ENSP00000289352:T31A	T	-	1	0	HIST1H4H	26393616	1.000000	0.71417	0.979000	0.43373	0.008000	0.06430	5.070000	0.64376	1.770000	0.52166	0.402000	0.26972	ACT		PASS	0.532	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040119.1	NM_003543		24	52	24	52	---	---	---	---
HIST1H4I	8294	broad.mit.edu	37	6	27107140	27107140	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:27107140G>T	ENST00000354348.2	+	1	65	c.53G>T	c.(52-54)cGc>cTc	p.R18L	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	18					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R18L(1)		lung(1)	1						GGTGCCAAGCGCCACCGCAAG	0.607			T	BCL6	NHL																																	uc003niy.1				Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(52-54)CGC>CTC		histone cluster 1, H4i							46.0	48.0	47.0					6																	27107140		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107140G>T	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.53G>T	6.37:g.27107140G>T	ENSP00000346316:p.Arg18Leu					HIST1H2BK_uc003nix.1_Intron	p.R18L	NM_003495	NP_003486	P62805	H4_HUMAN			1	53	+			18					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.53G>T	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.997510	0.54147	.	.	ENSG00000198339	ENST00000354348	.	.	.	3.95	3.95	0.45737	.	0.000000	0.41605	U	0.000844	T	0.75715	0.3887	M	0.89095	3.005	0.58432	D	0.999999	.	.	.	.	.	.	T	0.81651	-0.0836	7	0.87932	D	0	.	14.3124	0.66424	0.0:0.0:1.0:0.0	.	.	.	.	L	18	.	ENSP00000346316:R18L	R	+	2	0	HIST1H4I	27215119	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	6.946000	0.75953	2.158000	0.67659	0.655000	0.94253	CGC		PASS	0.607	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		6	17	6	17	---	---	---	---
GPANK1	7918	broad.mit.edu	37	6	31630476	31630476	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:31630476G>T	ENST00000375906.1	-	4	1322	c.638C>A	c.(637-639)cCc>cAc	p.P213H	CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|C6orf47_ENST00000375911.1_5'Flank|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.P213H|GPANK1_ENST00000375896.4_Missense_Mutation_p.P213H|GPANK1_ENST00000375893.2_Missense_Mutation_p.P213H|GPANK1_ENST00000375895.2_Missense_Mutation_p.P213H	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	213							nucleic acid binding (GO:0003676)	p.P213H(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTGGAGGGAGGGAGTAGGAGA	0.557																																						uc003nvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)CCC>CAC		HLA-B associated transcript 4							48.0	54.0	52.0					6																	31630476		1507	2694	4201	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31630476G>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.638C>A	6.37:g.31630476G>T	ENSP00000365071:p.Pro213His					C6orf47_uc003nvm.1_5'Flank|BAT4_uc003nvo.3_Missense_Mutation_p.P213H|BAT4_uc003nvp.3_Missense_Mutation_p.P213H|BAT4_uc003nvq.2_Missense_Mutation_p.P213H	p.P213H	NM_033177	NP_149417	O95872	GPAN1_HUMAN			3	1283	-			213					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.638C>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	G	6.536	0.467086	0.12402	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	4.85	3.04	0.35103	Ankyrin repeat-containing domain (1);	0.640763	0.14378	N	0.323328	T	0.02418	0.0074	N	0.24115	0.695	0.09310	N	1	P	0.37864	0.61	B	0.40901	0.343	T	0.43278	-0.9401	10	0.27785	T	0.31	-0.0011	4.986	0.14190	0.1894:0.204:0.6066:0.0	.	213	O95872	GPAN1_HUMAN	H	213	ENSP00000365071:P213H;ENSP00000365060:P213H;ENSP00000365057:P213H;ENSP00000365059:P213H;ENSP00000365065:P213H	ENSP00000365057:P213H	P	-	2	0	GPANK1	31738455	0.002000	0.14202	0.001000	0.08648	0.053000	0.15095	0.854000	0.27791	0.610000	0.30035	0.655000	0.94253	CCC		PASS	0.557	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		6	109	6	109	---	---	---	---
EHMT2	10919	broad.mit.edu	37	6	31864517	31864517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:31864517G>T	ENST00000375537.4	-	3	200	c.194C>A	c.(193-195)tCa>tAa	p.S65*	EHMT2_ENST00000375528.4_Nonsense_Mutation_p.S122*|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Nonsense_Mutation_p.S122*|EHMT2_ENST00000480912.1_5'Flank|EHMT2_ENST00000375530.4_Nonsense_Mutation_p.S65*	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	65					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.S65*(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGCTGGAGATGAGGGGCCAGC	0.577																																						uc003nxz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(193-195)TCA>TAA		euchromatic histone-lysine N-methyltransferase 2							55.0	68.0	63.0					6																	31864517		1510	2709	4219	SO:0001587	stop_gained	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864517G>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.194C>A	6.37:g.31864517G>T	ENSP00000364687:p.Ser65*					EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Nonsense_Mutation_p.S122*|EHMT2_uc003nya.1_Nonsense_Mutation_p.S65*|EHMT2_uc003nyb.1_Nonsense_Mutation_p.S65*|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	p.S65*	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			3	204	-			65					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Nonsense_Mutation	SNP	ENST00000375537.4	37	c.194C>A	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	g	16.36	3.100327	0.56183	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	.	.	.	2.98	2.98	0.34508	.	0.000000	0.33023	N	0.005375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1632	0.54115	0.0:0.0:1.0:0.0	.	.	.	.	X	122;122;65;65	.	ENSP00000364678:S122X	S	-	2	0	EHMT2	31972496	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	2.873000	0.48475	1.981000	0.57761	0.556000	0.70494	TCA		PASS	0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		5	69	5	69	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31937152	31937152	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:31937152G>A	ENST00000375394.2	+	27	3608	c.3495G>A	c.(3493-3495)ctG>ctA	p.L1165L	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Silent_p.L972L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1165					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.L1165L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGGGGAGCTGAATTTTGGGC	0.582																																						uc003nyn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3493-3495)CTG>CTA		superkiller viralicidic activity 2-like homolog							116.0	118.0	117.0					6																	31937152		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937152G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3495G>A	6.37:g.31937152G>A						SKIV2L_uc011dou.1_Silent_p.L1007L|SKIV2L_uc011dov.1_Silent_p.L972L|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.L1165L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			27	3884	+			1165					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.3495G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	7.132	0.580100	0.13686	.	.	ENSG00000204351	ENST00000491994	.	.	.	5.29	3.4	0.38934	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32025	-0.9922	4	.	.	.	-12.4277	4.8256	0.13414	0.0843:0.2342:0.5468:0.1347	.	.	.	.	K	164	.	.	E	+	1	0	SKIV2L	32045131	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.379000	0.44318	2.460000	0.83146	0.655000	0.94253	GAA		PASS	0.582	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			7	31	7	31	---	---	---	---
ATF6B	1388	broad.mit.edu	37	6	32088564	32088564	+	Silent	SNP	G	G	T	rs140760727		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:32088564G>T	ENST00000375203.3	-	8	848	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ATF6B_ENST00000375201.4_Silent_p.L269L	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	272					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L272L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTGGCTGGACGAGGGACTGCA	0.622																																						uc003nzn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)CTC>CTA		activating transcription factor 6 beta isoform							122.0	122.0	122.0					6																	32088564		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32088564G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.816C>A	6.37:g.32088564G>T						ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Silent_p.L269L|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.L206L|ATF6B_uc011dph.1_Silent_p.L272L	p.L272L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			8	849	-			272			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.816C>A	CCDS4737.1																																																																																				PASS	0.622	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			6	152	6	152	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33262491	33262491	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:33262491C>G	ENST00000497454.1	-	11	1822	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.D361H	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	443	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.D443H(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGGCTGCATCCAGCATCACA	0.587																																						uc003odv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1327-1329)GAT>CAT		ral guanine nucleotide dissociation							88.0	80.0	83.0					6																	33262491		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33262491C>G		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1327G>C	6.37:g.33262491C>G	ENSP00000420211:p.Asp443His					RGL2_uc003odu.2_Missense_Mutation_p.D3H|RGL2_uc010jur.2_Missense_Mutation_p.D3H|RGL2_uc003odw.2_Missense_Mutation_p.D361H|RGL2_uc011drb.1_Missense_Mutation_p.D361H	p.D443H	NM_004761	NP_004752	O15211	RGL2_HUMAN			11	1460	-			443			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1327G>C	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795667	0.70452	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.30714	1.52;1.52	4.7	4.7	0.59300	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.32640	-0.9899	10	0.87932	D	0	.	13.0243	0.58806	0.0:1.0:0.0:0.0	.	361;443	B4DG72;O15211	.;RGL2_HUMAN	H	443;307;361	ENSP00000420211:D443H;ENSP00000403070:D361H	ENSP00000400083:D307H	D	-	1	0	RGL2	33370469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	2.435000	0.82474	0.549000	0.68633	GAT		PASS	0.587	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			44	52	44	52	---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39330271	39330271	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:39330271G>A	ENST00000287152.7	-	17	1979	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	KIF6_ENST00000373216.3_Missense_Mutation_p.P629S|KIF6_ENST00000373215.3_Missense_Mutation_p.P612S|KIF6_ENST00000373213.4_Missense_Mutation_p.P468S|KIF6_ENST00000538893.1_Missense_Mutation_p.P573S|KIF6_ENST00000541946.1_Missense_Mutation_p.P80S|KIF6_ENST00000229913.5_Missense_Mutation_p.P80S|KIF6_ENST00000394362.1_Missense_Mutation_p.P80S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	629					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P629S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCATCAGAGGCACGGCCATG	0.517											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oot.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(1885-1887)CCT>TCT		kinesin family member 6							211.0	190.0	197.0					6																	39330271		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39330271G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1885C>T	6.37:g.39330271G>A	ENSP00000287152:p.Pro629Ser		OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	KIF6_uc003oos.2_Missense_Mutation_p.P80S|KIF6_uc010jwz.1_Missense_Mutation_p.P4S|KIF6_uc010jxa.1_Missense_Mutation_p.P420S|KIF6_uc011dua.1_Missense_Mutation_p.P612S|KIF6_uc010jxb.1_Missense_Mutation_p.P573S	p.P629S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			17	1980	-			629			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1885C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	0.504	-0.869396	0.02570	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T;T	0.70631	-0.42;1.61;-0.42;-0.24;1.63;-0.41;-0.5;1.61	5.23	-0.0308	0.13912	.	.	.	.	.	T	0.13243	0.0321	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.30387	-0.9980	9	0.07175	T	0.84	.	3.1369	0.06442	0.1599:0.2462:0.4685:0.1254	.	612;573;629;629	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	S	629;80;629;468;80;612;573;80;80	ENSP00000287152:P629S;ENSP00000377889:P80S;ENSP00000362312:P629S;ENSP00000362309:P468S;ENSP00000229913:P80S;ENSP00000362311:P612S;ENSP00000441435:P573S;ENSP00000439064:P80S	ENSP00000229913:P80S	P	-	1	0	KIF6	39438249	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.029000	0.12329	0.281000	0.22233	0.655000	0.94253	CCT		PASS	0.517	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		85	57	85	57	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46847578	46847578	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:46847578T>C	ENST00000283296.7	-	9	1301	c.1013A>G	c.(1012-1014)cAc>cGc	p.H338R	GPR116_ENST00000265417.7_Missense_Mutation_p.H338R|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.H338R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	338	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H338R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGATGTTGTGGATGGTGAG	0.423																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1012-1014)CAC>CGC		G-protein coupled receptor 116 precursor							179.0	152.0	161.0					6																	46847578		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46847578T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1013A>G	6.37:g.46847578T>C	ENSP00000283296:p.His338Arg					GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.H338R|GPR116_uc010jzi.1_Missense_Mutation_p.H10R|GPR116_uc003oyr.2_Missense_Mutation_p.H338R	p.H338R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1302	-			338			Ig-like 1.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1013A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	7.110	0.575821	0.13623	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000265417	T;T;T	0.65364	-0.15;-0.15;-0.15	5.72	-4.24	0.03777	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.900540	0.02298	N	0.070887	T	0.26521	0.0648	L	0.53249	1.67	0.21105	N	0.999785	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.04320	-1.0960	10	0.25106	T	0.35	-0.2749	1.9507	0.03366	0.3148:0.0698:0.2144:0.401	.	338;338;338	E9PBS6;A8K0D8;Q8IZF2	.;.;GP116_HUMAN	R	338	ENSP00000283296:H338R;ENSP00000354563:H338R;ENSP00000265417:H338R	ENSP00000265417:H338R	H	-	2	0	GPR116	46955537	0.002000	0.14202	0.006000	0.13384	0.009000	0.06853	-0.375000	0.07475	-0.956000	0.03631	-1.431000	0.01090	CAC		PASS	0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		15	38	15	38	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268164	52268164	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:52268164C>T	ENST00000442253.2	+	2	327	c.153C>T	c.(151-153)atC>atT	p.I51I	PAQR8_ENST00000360726.3_Silent_p.I51I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	51					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.I51I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					AGCCTTACATCCGCACCGGCT	0.602																																						uc003pao.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)ATC>ATT		progestin and adipoQ receptor family member							64.0	64.0	64.0					6																	52268164		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268164C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.153C>T	6.37:g.52268164C>T							p.I51I	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	327	+	Lung NSC(77;0.0875)		51			Cytoplasmic (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.153C>T	CCDS4941.1																																																																																				PASS	0.602	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		6	12	6	12	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97676876	97676876	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:97676876G>A	ENST00000275053.4	-	14	2198	c.1933C>T	c.(1933-1935)Cat>Tat	p.H645Y	MMS22L_ENST00000369251.2_Missense_Mutation_p.H605Y	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	645					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.H645Y(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTTTTTCATGGGAAGGATAC	0.423																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1933-1935)CAT>TAT		hypothetical protein LOC253714							149.0	140.0	143.0					6																	97676876		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97676876G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1933C>T	6.37:g.97676876G>A	ENSP00000275053:p.His645Tyr					C6orf167_uc011eaf.1_Missense_Mutation_p.H605Y	p.H645Y	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	14	2199	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	645					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1933C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086930	0.55861	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.31247	1.5;1.5	5.52	4.61	0.57282	.	0.264343	0.36778	N	0.002405	T	0.22282	0.0537	L	0.44542	1.39	0.30157	N	0.802554	P;P	0.47604	0.898;0.898	P;B	0.47075	0.536;0.354	T	0.02574	-1.1139	10	0.72032	D	0.01	-4.7931	14.7017	0.69160	0.0:0.2761:0.7239:0.0	.	605;645	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Y	645;605	ENSP00000275053:H645Y;ENSP00000358254:H605Y	ENSP00000275053:H645Y	H	-	1	0	MMS22L	97783597	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.495000	0.45337	2.609000	0.88269	0.563000	0.77884	CAT		PASS	0.423	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		21	73	21	73	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100390823	100390823	+	Splice_Site	SNP	A	A	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:100390823A>C	ENST00000281806.2	-	4	902		c.e4+1		MCHR2_ENST00000369212.2_Splice_Site	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACAACTTACCAGAGTACA	0.413																																						uc003pqh.1																			1	Unknown(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.e4+1		melanin-concentrating hormone receptor 2							104.0	97.0	99.0					6																	100390823		2203	4300	6503	SO:0001630	splice_region_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390823A>C	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.587+1T>G	6.37:g.100390823A>C						MCHR2_uc003pqi.1_Splice_Site_p.W196_splice	p.W196_splice	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	902	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)						B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Splice_Site	SNP	ENST00000281806.2	37	c.587_splice	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110606	0.77210	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6122	0.62086	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCHR2	100497544	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.721000	0.84768	1.910000	0.55303	0.533000	0.62120	.		PASS	0.413	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	Intron	21	31	21	31	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838803	100838803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:100838803C>A	ENST00000369208.3	-	12	2517	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.E579*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	579	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E579*(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATCTGTTCTCTTCTTCTTTA	0.443																																						uc003pqj.3																			1	Substitution - Nonsense(1)	p.E579D(1)	lung(1)	ovary(4)	4						c.(1735-1737)GAG>TAG		single-minded homolog 1							86.0	86.0	86.0					6																	100838803		2203	4300	6503	SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838803C>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1735G>T	6.37:g.100838803C>A	ENSP00000358210:p.Glu579*					SIM1_uc010kcu.2_Nonsense_Mutation_p.E579*	p.E579*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1942	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	579			Single-minded C-terminal.		Q5TDP7	Nonsense_Mutation	SNP	ENST00000369208.3	37	c.1735G>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	45	11.571069	0.99577	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1178	0.97943	0.0:1.0:0.0:0.0	.	.	.	.	X	579	.	ENSP00000262901:E579X	E	-	1	0	SIM1	100945524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.759000	0.94783	0.557000	0.71058	GAG		PASS	0.443	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		5	77	5	77	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112506499	112506499	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:112506499G>C	ENST00000230538.7	-	9	1414	c.1017C>G	c.(1015-1017)atC>atG	p.I339M	LAMA4_ENST00000389463.4_Missense_Mutation_p.I332M|LAMA4_ENST00000424408.2_Missense_Mutation_p.I332M|LAMA4_ENST00000522006.1_Missense_Mutation_p.I332M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	339	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.I332M(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGCATTGTTGATTTGTATCT	0.383																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1015-1017)ATC>ATG		laminin, alpha 4 isoform 1 precursor							376.0	303.0	328.0					6																	112506499		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112506499G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1017C>G	6.37:g.112506499G>C	ENSP00000230538:p.Ile339Met					LAMA4_uc003pvv.2_Missense_Mutation_p.I332M|LAMA4_uc003pvt.2_Missense_Mutation_p.I332M	p.I339M	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	9	1326	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	339			Potential.|Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1017C>G	CCDS43491.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.30|17.30|17.30	3.354574|3.354574|3.354574	0.61293|0.61293|0.61293	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881|ENST00000521732|ENST00000368640	T;T;T;T|.|.	0.11495|.|.	2.77;2.77;2.77;2.77|.|.	5.44|5.44|5.44	4.54|4.54|4.54	0.55810|0.55810|0.55810	Laminin I (1);|.|.	0.311853|.|.	0.34986|.|.	N|.|.	0.003531|.|.	T|T|.	0.44664|0.44664|.	0.1304|0.1304|.	L|L|L	0.53249|0.53249|0.53249	1.67|1.67|1.67	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P|.|.	0.42518|.|.	0.782;0.741|.|.	P;P|.|.	0.51742|.|.	0.678;0.549|.|.	T|T|.	0.47459|0.47459|.	-0.9116|-0.9116|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	7.1136|7.1136|7.1136	0.25405|0.25405|0.25405	0.0867:0.0:0.7407:0.1726|0.0867:0.0:0.7407:0.1726|0.0867:0.0:0.7407:0.1726	.|.|.	339;332|.|.	Q16363;Q16363-2|.|.	LAMA4_HUMAN;.|.|.	M|E|X	339;332;332;332;339|152|143	ENSP00000230538:I339M;ENSP00000429488:I332M;ENSP00000374114:I332M;ENSP00000416470:I332M|.|.	ENSP00000230538:I339M|.|.	I|Q|S	-|-|-	3|1|2	3|0|0	LAMA4|LAMA4|LAMA4	112613192|112613192|112613192	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	1.927000|1.927000|1.927000	0.40094|0.40094|0.40094	1.374000|1.374000|1.374000	0.46228|0.46228|0.46228	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAA|TCA		PASS	0.383	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		30	174	30	174	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117707019	117707019	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:117707019C>T	ENST00000368508.3	-	15	2329	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D706N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	711					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D711N(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATACCAATCCATGTCTCAA	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2131-2133)GAT>AAT		proto-oncogene c-ros-1 protein precursor							107.0	97.0	100.0					6																	117707019		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117707019C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2131G>A	6.37:g.117707019C>T	ENSP00000357494:p.Asp711Asn					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.D711N	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2330	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	711			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2131G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372409	0.82573	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91740	-2.9;-2.9	5.37	4.48	0.54585	.	0.080951	0.52532	D	0.000066	D	0.85487	0.5708	N	0.19112	0.55	0.80722	D	1	P	0.48503	0.911	P	0.49387	0.609	D	0.85771	0.1355	10	0.40728	T	0.16	.	13.7668	0.62999	0.0:0.9248:0.0:0.0752	.	711	P08922	ROS1_HUMAN	N	711;706	ENSP00000357494:D711N;ENSP00000357493:D706N	ENSP00000357493:D706N	D	-	1	0	ROS1	117813712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.553000	0.53713	2.804000	0.96469	0.655000	0.94253	GAT		PASS	0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			11	49	11	49	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142764490	142764490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:142764490C>T	ENST00000230173.6	+	26	4113	c.3637C>T	c.(3637-3639)Caa>Taa	p.Q1213*	GPR126_ENST00000367608.2_Silent_p.D1169D|GPR126_ENST00000296932.8_Nonsense_Mutation_p.Q1185*|GPR126_ENST00000367609.3_Silent_p.D1197D	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1213					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.D1197D(1)|p.Q1184*(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)		CTTCCATGGACAAGTCCTTGT	0.438																																						uc010khc.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(3637-3639)CAA>TAA		G protein-coupled receptor 126 alpha 1							196.0	187.0	190.0					6																	142764490		1960	4159	6119	SO:0001587	stop_gained	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142764490C>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.3637C>T	6.37:g.142764490C>T	ENSP00000230173:p.Gln1213*					GPR126_uc010khd.2_Nonsense_Mutation_p.Q1185*|GPR126_uc010khe.2_Silent_p.D1197D|GPR126_uc010khf.2_Silent_p.D1169D|GPR126_uc011edv.1_Silent_p.D257D	p.Q1213*	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	26	4048	+	Breast(32;0.176)		1213			Cytoplasmic (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonsense_Mutation	SNP	ENST00000230173.6	37	c.3637C>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	44	11.217205	0.99532	.	.	ENSG00000112414	ENST00000230173;ENST00000296932	.	.	.	6.07	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.5394	0.27729	0.1344:0.6836:0.117:0.0649	.	.	.	.	X	1213;1185	.	ENSP00000230173:Q1213X	Q	+	1	0	GPR126	142806183	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	0.882000	0.28186	0.393000	0.25203	0.655000	0.94253	CAA		PASS	0.438	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			29	250	29	250	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143090845	143090845	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:143090845G>T	ENST00000367604.1	-	4	5670	c.5031C>A	c.(5029-5031)tcC>tcA	p.S1677S	HIVEP2_ENST00000367603.2_Silent_p.S1677S|HIVEP2_ENST00000012134.2_Silent_p.S1677S			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1677					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.S1677S(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGGATTACAGGAACTAATGC	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5029-5031)TCC>TCA		human immunodeficiency virus type I enhancer							144.0	138.0	140.0					6																	143090845		1934	4137	6071	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143090845G>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5031C>A	6.37:g.143090845G>T							p.S1677S	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5774	-			1677					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.5031C>A	CCDS43510.1																																																																																				PASS	0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			7	126	7	126	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157528347	157528347	+	Silent	SNP	G	G	T	rs371980859		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:157528347G>T	ENST00000350026.5	+	19	6034	c.6033G>T	c.(6031-6033)acG>acT	p.T2011T	ARID1B_ENST00000367148.1_Silent_p.T2064T|ARID1B_ENST00000346085.5_Silent_p.T2024T|ARID1B_ENST00000275248.4_Silent_p.T2006T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2011					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.T2024T(1)|p.T2006T(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGATAACACGTTGGTCACGT	0.542																																						uc003qqn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(6016-6018)ACG>ACT		AT rich interactive domain 1B (SWI1-like)							120.0	115.0	117.0					6																	157528347		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528347G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6033G>T	6.37:g.157528347G>T						ARID1B_uc003qqo.2_Silent_p.T1966T|ARID1B_uc003qqp.2_Silent_p.T1953T	p.T2006T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6170	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2011					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6018G>T	CCDS5251.2																																																																																				PASS	0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		17	74	17	74	---	---	---	---
TMEM242	729515	broad.mit.edu	37	6	157743751	157743751	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:157743751C>G	ENST00000400788.4	-	2	276	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	RP5-933K21.3_ENST00000603032.1_lincRNA|TMEM242_ENST00000367144.4_Missense_Mutation_p.E59Q	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	59						integral component of membrane (GO:0016021)		p.E59Q(1)									TTGAACCATTCAGGGCTTTTC	0.373																																						uc003sih.3																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GAA>CAA		hypothetical protein LOC729515							145.0	141.0	142.0					6																	157743751		1827	4084	5911	SO:0001583	missense	729515					integral to membrane		g.chr6:157743751C>G	AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.175G>C	6.37:g.157743751C>G	ENSP00000383594:p.Glu59Gln						p.E59Q	NM_018452	NP_060922	Q9NWH2	CF035_HUMAN			2	438	-			59					B9EJD0|Q9NZ88|Q9P094	Missense_Mutation	SNP	ENST00000400788.4	37	c.175G>C	CCDS43519.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044763	0.36085	.	.	ENSG00000215712	ENST00000400788;ENST00000367144	.	.	.	4.79	3.87	0.44632	.	0.367187	0.27841	N	0.017638	T	0.15435	0.0372	L	0.31926	0.97	0.31038	N	0.716677	B	0.23128	0.08	B	0.28553	0.091	T	0.22521	-1.0214	9	0.30078	T	0.28	-18.1163	6.429	0.21786	0.0:0.6459:0.1561:0.198	.	59	Q9NWH2	CF035_HUMAN	Q	59	.	ENSP00000356112:E59Q	E	-	1	0	C6orf35	157663739	0.963000	0.33076	0.990000	0.47175	0.996000	0.88848	2.225000	0.42954	-0.321000	0.08627	0.402000	0.26972	GAA		PASS	0.373	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042837.2			51	89	51	89	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328351	160328351	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:160328351C>T	ENST00000252660.4	+	1	378	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	122					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.L122L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GGGCCTCTATCTGCTGACGGC	0.488																																						uc003qsz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(364-366)CTG>TTG		MAS1 oncogene							138.0	130.0	133.0					6																	160328351		2203	4300	6503	SO:0001819	synonymous_variant	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328351C>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.364C>T	6.37:g.160328351C>T							p.L122L	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	378	+		Breast(66;0.000776)|Ovarian(120;0.0303)	122			Helical; Name=3; (Potential).		E1P5B3|Q2TBC9|Q6FG47	Silent	SNP	ENST00000252660.4	37	c.364C>T	CCDS5272.1																																																																																				PASS	0.488	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		27	118	27	118	---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169053880	169053880	+	Missense_Mutation	SNP	C	C	G	rs151010390		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr6:169053880C>G	ENST00000356284.2	+	11	1477	c.1257C>G	c.(1255-1257)gaC>gaG	p.D419E	SMOC2_ENST00000354536.5_Missense_Mutation_p.D430E	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	419	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D430E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGAAAGAGGACGGCAAAGCGG	0.527																																						uc003qws.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)GAC>GAG		SPARC related modular calcium binding 2							120.0	109.0	113.0					6																	169053880		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169053880C>G	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1257C>G	6.37:g.169053880C>G	ENSP00000348630:p.Asp419Glu					SMOC2_uc003qwr.1_Missense_Mutation_p.D430E|SMOC2_uc011egu.1_Missense_Mutation_p.D96E	p.D419E	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	11	1277	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	419			EF-hand 2.		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1257C>G	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.680010	0.00751	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.34072	1.39;1.38	4.92	-6.94	0.01633	EF-hand-like domain (1);	0.202926	0.41194	N	0.000938	T	0.03871	0.0109	N	0.25485	0.75	0.22571	N	0.998975	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.39722	-0.9600	10	0.02654	T	1	0.1195	6.6915	0.23174	0.3016:0.3667:0.3317:0.0	.	419;430	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	E	419;430;419;96;96;39	ENSP00000348630:D419E;ENSP00000346537:D430E	ENSP00000346537:D430E	D	+	3	2	SMOC2	168795805	0.983000	0.35010	0.000000	0.03702	0.016000	0.09150	0.135000	0.15952	-1.871000	0.01138	-0.976000	0.02587	GAC		PASS	0.527	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			9	54	9	54	---	---	---	---
ANKMY2	57037	broad.mit.edu	37	7	16644386	16644386	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:16644386C>A	ENST00000306999.2	-	8	1214	c.971G>T	c.(970-972)gGa>gTa	p.G324V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	324						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.G324V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCCTTTTCTCCACAGGTAGT	0.453																																						uc003sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(970-972)GGA>GTA		ankyrin repeat and MYND domain containing 2							116.0	109.0	111.0					7																	16644386		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16644386C>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.971G>T	7.37:g.16644386C>A	ENSP00000303570:p.Gly324Val					ANKMY2_uc010ktz.2_RNA	p.G324V	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	8	1171	-	Lung NSC(10;0.103)|all_lung(11;0.204)		324			MYND-type.		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.971G>T	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869121	0.91587	.	.	ENSG00000106524	ENST00000306999	D	0.83163	-1.69	5.74	5.74	0.90152	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96076	0.9050	10	0.72032	D	0.01	-9.4072	19.918	0.97070	0.0:1.0:0.0:0.0	.	324	Q8IV38	ANKY2_HUMAN	V	324	ENSP00000303570:G324V	ENSP00000303570:G324V	G	-	2	0	ANKMY2	16610911	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.442000	0.80503	2.713000	0.92767	0.655000	0.94253	GGA		PASS	0.453	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		30	58	30	58	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21721271	21721271	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:21721271G>T	ENST00000409508.3	+	31	5467	c.5436G>T	c.(5434-5436)gtG>gtT	p.V1812V	DNAH11_ENST00000328843.6_Silent_p.V1817V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1817	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1817V(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						CCAGAGACGTGGTGGCAAAAC	0.393									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5449-5451)GTG>GTT		dynein, axonemal, heavy chain 11							145.0	140.0	141.0					7																	21721271		1895	4127	6022	SO:0001819	synonymous_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.chr7:21721271G>T	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.5436G>T	7.37:g.21721271G>T							p.V1817V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			31	5482	+			1817			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5451G>T																																																																																					PASS	0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	101	5	101	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:21805045G>T	ENST00000409508.3	+	55	8971		c.e55-1		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						TGTCTCCACAGATCATTTTGT	0.483									Kartagener syndrome																													uc003svc.2																			1	Unknown(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.e56-1		dynein, axonemal, heavy chain 11							168.0	162.0	164.0					7																	21805045		2022	4203	6225	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.chr7:21805045G>T	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.8941-1G>T	7.37:g.21805045G>T							p.I2988_splice	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			56	8993	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37	c.8962_splice		.	.	.	.	.	.	.	.	.	.	G	27.7	4.851284	0.91355	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9787	0.97318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21771570	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.582000	0.82546	2.719000	0.93026	0.555000	0.69702	.		PASS	0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	31	94	31	94	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45649987	45649987	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:45649987C>A	ENST00000297323.7	+	3	821	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCY1_ENST00000432715.1_Missense_Mutation_p.L42I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	267					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L267I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGAGCGGCTCCTCATGAGCCT	0.622																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(799-801)CTC>ATC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						59.0	65.0	63.0					7																	45649987		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45649987C>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.799C>A	7.37:g.45649987C>A	ENSP00000297323:p.Leu267Ile					ADCY1_uc003tnd.2_Missense_Mutation_p.L42I	p.L267I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			3	817	+			267			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.799C>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	c	26.0	4.696555	0.88830	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.87491	-2.26;-2.08	4.94	4.94	0.65067	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.171620	0.38959	N	0.001520	D	0.86847	0.6031	M	0.78456	2.415	0.58432	D	0.999996	B;P	0.41041	0.401;0.736	B;B	0.37346	0.128;0.247	D	0.87888	0.2682	10	0.45353	T	0.12	.	15.6884	0.77430	0.0:1.0:0.0:0.0	.	267;42	Q08828;C9J1J0	ADCY1_HUMAN;.	I	42;267;267	ENSP00000392721:L42I;ENSP00000297323:L267I	ENSP00000297323:L267I	L	+	1	0	ADCY1	45616512	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.445000	0.52921	2.272000	0.75746	0.550000	0.68814	CTC		PASS	0.622	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		6	84	6	84	---	---	---	---
SBDS	51119	broad.mit.edu	37	7	66453478	66453478	+	Silent	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:66453478C>G	ENST00000246868.2	-	5	816	c.633G>C	c.(631-633)ctG>ctC	p.L211L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	211					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.L211L(1)		cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CCGGGTCAATCAGACATACCT	0.398			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(631-633)CTG>CTC		Shwachman-Bodian-Diamond syndrome protein							89.0	81.0	83.0					7																	66453478		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66453478C>G	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.633G>C	7.37:g.66453478C>G							p.L211L	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			5	817	-			211					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.633G>C	CCDS5537.1																																																																																				PASS	0.398	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		8	40	8	40	---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75634626	75634626	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:75634626C>T	ENST00000248600.1	-	6	892	c.550G>A	c.(550-552)Gac>Aac	p.D184N	STYXL1_ENST00000431581.1_Missense_Mutation_p.D184N|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000451157.1_Missense_Mutation_p.D184N|STYXL1_ENST00000340062.5_Missense_Mutation_p.D88N|STYXL1_ENST00000359697.3_Missense_Mutation_p.D184N	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	184	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D184N(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATTTTCAAGTCCTTCTGAATC	0.398																																						uc003uej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)GAC>AAC		map kinase phosphatase-like protein MK-STYX							101.0	96.0	97.0					7																	75634626		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634626C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.550G>A	7.37:g.75634626C>T	ENSP00000248600:p.Asp184Asn					STYXL1_uc003uef.2_5'UTR|STYXL1_uc011kgf.1_Missense_Mutation_p.D46N|STYXL1_uc011kgg.1_Missense_Mutation_p.D36N|STYXL1_uc003ueh.2_Missense_Mutation_p.D46N|STYXL1_uc003uek.3_Missense_Mutation_p.D88N|STYXL1_uc003uel.2_Missense_Mutation_p.D184N|STYXL1_uc003uem.2_Missense_Mutation_p.D184N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D184N|STYXL1_uc003uen.1_Missense_Mutation_p.D184N	p.D184N	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			6	723	-			184			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.550G>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988822	0.74589	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.26	4.35	0.52113	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.050973	0.85682	D	0.000000	T	0.67841	0.2936	L	0.54323	1.7	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.99;0.999;0.994;0.813	D;P;D;P;P	0.72338	0.977;0.851;0.977;0.889;0.714	T	0.62158	-0.6913	10	0.19590	T	0.45	-29.4413	13.7655	0.62992	0.0:0.8461:0.1539:0.0	.	184;184;184;88;184	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;.;STYL1_HUMAN	N	184;184;88;184;184;139;184	ENSP00000248600:D184N;ENSP00000352726:D184N;ENSP00000343383:D88N;ENSP00000392221:D184N;ENSP00000406073:D139N;ENSP00000411812:D184N	ENSP00000248600:D184N	D	-	1	0	STYXL1	75472562	0.999000	0.42202	1.000000	0.80357	0.610000	0.37248	2.433000	0.44793	2.457000	0.83068	0.650000	0.86243	GAC		PASS	0.398	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		11	38	11	38	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	82997159	82997159	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:82997159G>A	ENST00000307792.3	-	17	2538	c.2071C>T	c.(2071-2073)Cat>Tat	p.H691Y	SEMA3E_ENST00000427262.1_Missense_Mutation_p.H631Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	691					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.H691Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCCTGTGATGCCTGTCCTCC	0.483																																						uc003uhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2071-2073)CAT>TAT		semaphorin 3E precursor							146.0	124.0	131.0					7																	82997159		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997159G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2071C>T	7.37:g.82997159G>A	ENSP00000303212:p.His691Tyr						p.H691Y	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2537	-		Medulloblastoma(109;0.109)	691					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2071C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	6.610	0.480930	0.12581	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.29917	1.61;1.55	5.74	3.46	0.39613	.	1.194240	0.06029	N	0.652743	T	0.30947	0.0781	L	0.51422	1.61	0.09310	N	1	B	0.15473	0.013	B	0.25987	0.065	T	0.18777	-1.0326	10	0.51188	T	0.08	.	6.1642	0.20380	0.1423:0.3438:0.5139:0.0	.	691	O15041	SEM3E_HUMAN	Y	691;631;691	ENSP00000303212:H691Y;ENSP00000405052:H631Y	ENSP00000303212:H691Y	H	-	1	0	SEMA3E	82835095	0.455000	0.25736	0.105000	0.21289	0.152000	0.21847	1.065000	0.30592	2.719000	0.93026	0.585000	0.79938	CAT		PASS	0.483	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		10	58	10	58	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468972	86468972	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:86468972C>T	ENST00000361669.2	+	4	3241	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.T306T|GRM3_ENST00000536043.1_Silent_p.T586T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	714					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.T714T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCCAGGCACCAGGAGGTATA	0.498																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2140-2142)ACC>ACT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						82.0	77.0	79.0					7																	86468972		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468972C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2142C>T	7.37:g.86468972C>T						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.T586T|GRM3_uc010leh.2_Silent_p.T306T	p.T714T	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3241	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		714			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2142C>T	CCDS5600.1																																																																																				PASS	0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			11	47	11	47	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87459208	87459208	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:87459208G>A	ENST00000338056.3	+	12	1696	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.D363N|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.D412N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	429								p.D429N(1)|p.D429H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGGTAAGGAAGATACTCCCTC	0.343																																						uc003ujb.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	skin(1)	1						c.(1285-1287)GAT>AAT		RUN domain containing 3B isoform a							123.0	124.0	124.0					7																	87459208		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87459208G>A		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1285G>A	7.37:g.87459208G>A	ENSP00000337732:p.Asp429Asn					RUNDC3B_uc011khe.1_Missense_Mutation_p.D412N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.D363N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.D285N	p.D429N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			12	1696	+	Esophageal squamous(14;0.00164)		429					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.1285G>A	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042115	0.35989	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.41400	1.0;1.0;1.0	5.46	5.46	0.80206	.	0.109577	0.64402	D	0.000007	T	0.28532	0.0706	N	0.11427	0.14	0.50813	D	0.999899	P;B;B;B	0.35433	0.501;0.275;0.403;0.017	B;B;B;B	0.36289	0.118;0.077;0.221;0.004	T	0.10683	-1.0619	10	0.33141	T	0.24	-13.5637	17.4726	0.87650	0.0:0.0:1.0:0.0	.	412;285;363;429	E9PBR4;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	N	429;363;412	ENSP00000337732:D429N;ENSP00000420394:D363N;ENSP00000378149:D412N	ENSP00000337732:D429N	D	+	1	0	RUNDC3B	87297144	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.131000	0.94446	2.568000	0.86640	0.585000	0.79938	GAT		PASS	0.343	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		5	99	5	99	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91709170	91709170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:91709170C>T	ENST00000359028.2	+	32	7984	c.7759C>T	c.(7759-7761)Caa>Taa	p.Q2587*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2587*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2575*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2587	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Q2587*(1)|p.Q2575*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGATAATCAAACAATTTC	0.343			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Nonsense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(7723-7725)CAA>TAA		A-kinase anchor protein 9 isoform 2							52.0	55.0	54.0					7																	91709170		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709170C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7759C>T	7.37:g.91709170C>T	ENSP00000351922:p.Gln2587*					AKAP9_uc003ulf.2_Nonsense_Mutation_p.Q2567*|AKAP9_uc003uli.2_Nonsense_Mutation_p.Q2198*|AKAP9_uc003ulj.2_Nonsense_Mutation_p.Q345*	p.Q2575*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	7948	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2587			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.7723C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.260973	0.99651	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	3.61	2.71	0.32032	.	0.218384	0.23378	N	0.048827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.8218	0.52242	0.0:0.6603:0.3397:0.0	.	.	.	.	X	2575;2587;2587;2579;421	.	ENSP00000348573:Q2575X	Q	+	1	0	AKAP9	91547106	0.000000	0.05858	0.002000	0.10522	0.118000	0.20060	0.310000	0.19356	1.088000	0.41272	0.591000	0.81541	CAA		PASS	0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		13	79	13	79	---	---	---	---
PON2	5445	broad.mit.edu	37	7	95034736	95034736	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:95034736C>A	ENST00000222572.3	-	9	1217	c.971G>T	c.(970-972)gGg>gTg	p.G324V	PON2_ENST00000433091.2_Missense_Mutation_p.G312V|PON2_ENST00000536183.1_Missense_Mutation_p.G345V|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	324					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G324V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGAACAGACCCATTGTTGGC	0.423																																					GBM(42;803 823 13649 23368 31463)	uc003unv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GGG>GTG		paraoxonase 2 isoform 1							179.0	150.0	160.0					7																	95034736		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95034736C>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.971G>T	7.37:g.95034736C>A	ENSP00000222572:p.Gly324Val					PON2_uc003unu.2_Missense_Mutation_p.G312V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.G237V	p.G324V	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1092	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		324					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.971G>T	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863570	0.51482	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.54071	0.59;0.59;0.59	4.81	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82520	-0.0416	10	0.87932	D	0	-22.0075	18.4511	0.90704	0.0:1.0:0.0:0.0	.	324;324	A4D1H7;Q15165	.;PON2_HUMAN	V	345;322;312;324	ENSP00000440282:G345V;ENSP00000404622:G312V;ENSP00000222572:G324V	ENSP00000222572:G324V	G	-	2	0	PON2	94872672	1.000000	0.71417	0.824000	0.32777	0.190000	0.23558	7.208000	0.77907	2.662000	0.90505	0.650000	0.86243	GGG		PASS	0.423	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		6	110	6	110	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100676099	100676099	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:100676099G>C	ENST00000306151.4	+	3	1466	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	468	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E468Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAA	0.478																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1402-1404)GAG>CAG		mucin 17 precursor							259.0	269.0	266.0					7																	100676099		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676099G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1402G>C	7.37:g.100676099G>C	ENSP00000302716:p.Glu468Gln					MUC17_uc010lho.1_RNA	p.E468Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1455	+	Lung NSC(181;0.136)|all_lung(186;0.182)		468			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1402G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.274	-0.612177	0.03690	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.17	0.0868	0.14448	.	.	.	.	.	T	0.01421	0.0046	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	B	0.34180	0.177	T	0.44937	-0.9295	9	0.14656	T	0.56	.	3.2459	0.06797	0.0:0.2933:0.4114:0.2953	.	468	Q685J3	MUC17_HUMAN	Q	468	ENSP00000302716:E468Q	ENSP00000302716:E468Q	E	+	1	0	MUC17	100462819	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.575000	0.00910	0.019000	0.15079	0.400000	0.26472	GAG		PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		15	243	15	243	---	---	---	---
GPR85	54329	broad.mit.edu	37	7	112724255	112724255	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:112724255G>C	ENST00000297146.3	-	3	1125	c.522C>G	c.(520-522)ttC>ttG	p.F174L	GPR85_ENST00000449591.1_Missense_Mutation_p.F174L|GPR85_ENST00000501255.2_Missense_Mutation_p.F174L|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_Missense_Mutation_p.F174L	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	174					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F174L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGCGGTGTTGGAAGGTGCATT	0.478																																						uc010ljv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(520-522)TTC>TTG		G protein-coupled receptor 85							86.0	77.0	80.0					7																	112724255		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724255G>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.522C>G	7.37:g.112724255G>C	ENSP00000297146:p.Phe174Leu					GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L	p.F174L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1039	-			174			Extracellular (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.522C>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	5.174	0.217582	0.09810	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.41	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.046978	0.85682	D	0.000000	T	0.24044	0.0582	L	0.31476	0.935	0.58432	D	0.999995	B	0.28026	0.198	B	0.28011	0.085	T	0.04373	-1.0956	10	0.20519	T	0.43	.	9.3698	0.38248	0.235:0.0:0.765:0.0	.	174	P60893	GPR85_HUMAN	L	174	ENSP00000445808:F174L;ENSP00000297146:F174L;ENSP00000396763:F174L;ENSP00000401178:F174L	ENSP00000297146:F174L	F	-	3	2	GPR85	112511491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.420000	0.44679	2.706000	0.92434	0.650000	0.86243	TTC		PASS	0.478	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			18	44	18	44	---	---	---	---
ZC3HAV1	56829	broad.mit.edu	37	7	138764611	138764611	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:138764611C>A	ENST00000242351.5	-	4	1392	c.1076G>T	c.(1075-1077)tGg>tTg	p.W359L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.W359L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.W359L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	359					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.W359L(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GAGGCTCTTCCAGTTGGGGGC	0.532																																						uc003vun.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1075-1077)TGG>TTG		zinc finger antiviral protein isoform 1							121.0	127.0	125.0					7																	138764611		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764611C>A	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.1076G>T	7.37:g.138764611C>A	ENSP00000242351:p.Trp359Leu					ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.W359L	p.W359L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1464	-			359					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1076G>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142640	0.21205	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.28454	1.61;1.61;1.61	3.77	-1.53	0.08611	.	2.962970	0.00853	N	0.001850	T	0.21227	0.0511	L	0.43152	1.355	0.09310	N	1	B;P	0.39480	0.187;0.675	B;B	0.30943	0.106;0.122	T	0.17899	-1.0354	10	0.12430	T	0.62	.	7.4536	0.27252	0.0:0.4293:0.0:0.5707	.	359;359	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	L	359;359;359;119	ENSP00000242351:W359L;ENSP00000418385:W359L;ENSP00000419855:W359L	ENSP00000242351:W359L	W	-	2	0	ZC3HAV1	138415151	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.614000	0.02057	-0.464000	0.06963	-0.145000	0.13849	TGG		PASS	0.532	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		5	78	5	78	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149481129	149481129	+	RNA	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr7:149481129G>A	ENST00000378016.2	+	0	2611							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.E206K(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGACCCTGAGGGCCAGTG	0.652																																						uc010lpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2611-2613)GAG>AAG		SCO-spondin precursor							34.0	41.0	38.0					7																	149481129		2011	4173	6184			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481129G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481129G>A						SSPO_uc010lpl.1_Missense_Mutation_p.E206K	p.E871K	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	2611	+	Melanoma(164;0.165)|Ovarian(565;0.177)		871			TIL 2.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.2611G>A																																																																																					PASS	0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	4	4	4	---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17409474	17409474	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:17409474C>G	ENST00000494857.1	+	7	1252	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C	SLC7A2_ENST00000004531.10_Missense_Mutation_p.S385C|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S385C|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S345C|SLC7A2_ENST00000470360.1_Missense_Mutation_p.S385C	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	345					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.S385C(1)|p.S345C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGCTGGTTCTCTCTGCGCC	0.488																																						uc011kyc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1033-1035)TCT>TGT		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						93.0	91.0	92.0					8																	17409474		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17409474C>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1034C>G	8.37:g.17409474C>G	ENSP00000419140:p.Ser345Cys					SLC7A2_uc011kyd.1_Missense_Mutation_p.S385C|SLC7A2_uc011kye.1_Missense_Mutation_p.S385C|SLC7A2_uc011kyf.1_Missense_Mutation_p.S345C	p.S345C	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	6	1203	+			345			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.1034C>G	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099438	0.76983	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.26	5.26	0.73747	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.99;0.999	D	0.96531	0.9393	10	0.66056	D	0.02	.	19.2416	0.93887	0.0:1.0:0.0:0.0	.	385;385;345	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	C	345;345;385;385;385	ENSP00000419140:S345C;ENSP00000430464:S345C;ENSP00000419873:S385C;ENSP00000004531:S385C;ENSP00000381164:S385C	ENSP00000004531:S385C	S	+	2	0	SLC7A2	17453852	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	7.818000	0.86416	2.621000	0.88768	0.655000	0.94253	TCT		PASS	0.488	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		12	19	12	19	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42932394	42932394	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:42932394G>T	ENST00000302279.3	+	6	863	c.669G>T	c.(667-669)gtG>gtT	p.V223V	FNTA_ENST00000342116.4_Silent_p.V156V|RP11-598P20.5_ENST00000534420.1_Silent_p.V180V|FNTA_ENST00000529687.1_Silent_p.V72V	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	223					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.V223V(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGCAGTATGTGGACCAACTTC	0.333																																						uc003xps.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)GTG>GTT		farnesyltransferase, CAAX box, alpha isoform a							102.0	95.0	98.0					8																	42932394		2203	4300	6503	SO:0001819	synonymous_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42932394G>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.669G>T	8.37:g.42932394G>T						FNTA_uc003xpt.2_Silent_p.V132V|FNTA_uc003xpu.2_Silent_p.V156V|FNTA_uc003xpv.2_RNA	p.V223V	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		6	717	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	223			PFTA 4.		A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	37	c.669G>T	CCDS6140.1																																																																																				PASS	0.333	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		4	51	4	51	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55542765	55542765	+	Missense_Mutation	SNP	T	T	A	rs145297510		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:55542765T>A	ENST00000220676.1	+	4	6471	c.6323T>A	c.(6322-6324)aTt>aAt	p.I2108N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2108					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.I2108N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCTTAGATATTTGCCAAGTT	0.348																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(6322-6324)ATT>AAT		retinitis pigmentosa RP1 protein							52.0	56.0	55.0					8																	55542765		2203	4295	6498	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542765T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6323T>A	8.37:g.55542765T>A	ENSP00000220676:p.Ile2108Asn					RP1_uc011ldy.1_Intron	p.I2108N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6471	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2108						Missense_Mutation	SNP	ENST00000220676.1	37	c.6323T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852205	0.71719	.	.	ENSG00000104237	ENST00000220676	T	0.27256	1.68	5.43	4.21	0.49690	.	0.469308	0.15812	N	0.243411	T	0.27169	0.0666	N	0.19112	0.55	0.21675	N	0.999595	D	0.58970	0.984	P	0.54372	0.75	T	0.05989	-1.0852	10	0.72032	D	0.01	.	10.8595	0.46819	0.0:0.0:0.1575:0.8425	.	2108	P56715	RP1_HUMAN	N	2108	ENSP00000220676:I2108N	ENSP00000220676:I2108N	I	+	2	0	RP1	55705318	0.997000	0.39634	0.958000	0.39756	0.989000	0.77384	2.216000	0.42871	2.051000	0.60960	0.533000	0.62120	ATT		PASS	0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	32	10	32	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61736458	61736458	+	Silent	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:61736458T>A	ENST00000423902.2	+	13	3740	c.3261T>A	c.(3259-3261)atT>atA	p.I1087I	CHD7_ENST00000525508.1_Silent_p.I1087I|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1087	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I1087I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGAGATGATTTTGACTGATT	0.423																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3259-3261)ATT>ATA		chromodomain helicase DNA binding protein 7							116.0	111.0	113.0					8																	61736458		1985	4191	6176	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61736458T>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3261T>A	8.37:g.61736458T>A						CHD7_uc003xuf.2_Silent_p.I200I	p.I1087I	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		13	3738	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1087			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.3261T>A	CCDS47865.1																																																																																				PASS	0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		25	50	25	50	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766782	77766782	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:77766782C>G	ENST00000521891.2	+	10	8073	c.7625C>G	c.(7624-7626)cCc>cGc	p.P2542R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2497R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2497R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2516R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2497					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.P2526R(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)			ATATTTGACCCCAACAATCCG	0.542										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7489-7491)CCC>CGC		zinc finger homeodomain 4							122.0	121.0	121.0					8																	77766782		1989	4160	6149	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766782C>G		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.7625C>G	8.37:g.77766782C>G	ENSP00000430497:p.Pro2542Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2542R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2497R	p.P2497R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7877	+			2497					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7490C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789239	0.49997	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54279	0.58;0.64;0.6;0.6	5.14	5.14	0.70334	.	0.000000	0.44285	U	0.000473	T	0.73560	0.3602	M	0.73962	2.25	0.80722	D	1	D;D;D	0.65815	0.991;0.995;0.988	D;D;D	0.75484	0.956;0.986;0.971	T	0.75926	-0.3145	10	0.66056	D	0.02	.	18.7978	0.92003	0.0:1.0:0.0:0.0	.	2497;2497;2542	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2542;2526;2497;2497;2516	ENSP00000430497:P2542R;ENSP00000399605:P2497R;ENSP00000050961:P2497R;ENSP00000430848:P2516R	ENSP00000050961:P2497R	P	+	2	0	ZFHX4	77929337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.675000	0.91044	0.650000	0.86243	CCC		PASS	0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	111	21	111	---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82571595	82571595	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:82571595G>A	ENST00000256108.5	-	9	1290	c.825C>T	c.(823-825)gaC>gaT	p.D275D	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000523710.1_5'Flank|IMPA1_ENST00000449740.2_Silent_p.D334D	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	275					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)	p.D275D(1)|p.D334D(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	ATTAATCTTCGTCGTCTCGTT	0.373																																						uc003ych.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(823-825)GAC>GAT		inositol(myo)-1(or 4)-monophosphatase 1 isoform	Lithium(DB01356)						145.0	137.0	140.0					8																	82571595		2203	4300	6503	SO:0001819	synonymous_variant	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82571595G>A		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.825C>T	8.37:g.82571595G>A						IMPA1_uc011lfq.1_Silent_p.D334D|IMPA1_uc011lfr.1_3'UTR	p.D275D	NM_005536	NP_005527	P29218	IMPA1_HUMAN			9	952	-			275					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Silent	SNP	ENST00000256108.5	37	c.825C>T	CCDS6231.1																																																																																				PASS	0.373	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			6	48	6	48	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86044014	86044014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:86044014G>T	ENST00000360375.3	+	12	1935	c.1786G>T	c.(1786-1788)Gag>Tag	p.E596*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.E576*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	596					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E596*(1)|p.E576*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGAAACAAGGGAGTTTTTTAC	0.333																																						uc003ycw.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1786-1788)GAG>TAG		sodium channel associated protein 2 isoform a							75.0	68.0	70.0					8																	86044014		1830	4083	5913	SO:0001587	stop_gained	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044014G>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1786G>T	8.37:g.86044014G>T	ENSP00000353538:p.Glu596*					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Nonsense_Mutation_p.E297*|LRRCC1_uc003ycx.2_Nonsense_Mutation_p.E503*|LRRCC1_uc003ycy.2_Nonsense_Mutation_p.E576*	p.E596*	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			12	1940	+			596			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	37	c.1786G>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690731	0.68271	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	.	.	.	5.64	2.8	0.32819	.	0.909644	0.09054	N	0.855313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-1.1512	11.4611	0.50211	0.0644:0.2349:0.7007:0.0	.	.	.	.	X	596;576	.	ENSP00000353538:E596X	E	+	1	0	LRRCC1	86231266	1.000000	0.71417	0.129000	0.21949	0.035000	0.12851	2.341000	0.43983	0.376000	0.24707	-0.143000	0.13931	GAG		PASS	0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		5	32	5	32	---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94792820	94792820	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:94792820G>T	ENST00000453321.3	+	8	772		c.e8-1		TMEM67_ENST00000409623.3_Splice_Site|TMEM67_ENST00000425545.2_Splice_Site	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.?(2)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTCTGTTGTAGGTATATGCCA	0.363																																						uc011lgk.1																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e8-1		meckelin isoform 1							243.0	228.0	233.0					8																	94792820		2203	4300	6503	SO:0001630	splice_region_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94792820G>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.715-1G>T	8.37:g.94792820G>T						TMEM67_uc010mat.1_Splice_Site_p.V154_splice|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Splice_Site_p.V158_splice	p.V239_splice	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		8	786	+	Breast(36;4.14e-07)							B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Splice_Site	SNP	ENST00000453321.3	37	c.715_splice	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277006	0.80580	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8608	0.96783	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM67	94861996	1.000000	0.71417	0.099000	0.21106	0.467000	0.32768	7.209000	0.77916	2.680000	0.91292	0.557000	0.71058	.		PASS	0.363	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	Intron	6	149	6	149	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118184913	118184913	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:118184913G>A	ENST00000456015.2	+	8	1103	c.1103G>A	c.(1102-1104)tGt>tAt	p.C368Y	SLC30A8_ENST00000519688.1_Missense_Mutation_p.C319Y|SLC30A8_ENST00000427715.2_Missense_Mutation_p.C319Y|SLC30A8_ENST00000521243.1_Missense_Mutation_p.C319Y	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	368					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.C368Y(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAAGACCCCTGTGACTAGCTC	0.473																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1102-1104)TGT>TAT		solute carrier family 30 member 8							132.0	120.0	124.0					8																	118184913		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118184913G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1103G>A	8.37:g.118184913G>A	ENSP00000415011:p.Cys368Tyr					SLC30A8_uc010mcz.2_Missense_Mutation_p.C319Y|SLC30A8_uc011lia.1_Missense_Mutation_p.C319Y|SLC30A8_uc003yog.2_Missense_Mutation_p.C319Y	p.C368Y	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		8	1333	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		368			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.1103G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	0.218	-1.030883	0.02045	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.1	5.06	-5.03	0.02973	.	0.867568	0.10014	N	0.726892	T	0.34948	0.0915	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17561	-1.0365	10	0.45353	T	0.12	1.4492	8.0425	0.30529	0.7153:0.0:0.1554:0.1292	.	368	Q8IWU4	ZNT8_HUMAN	Y	319;319;319;368	ENSP00000428545:C319Y;ENSP00000407505:C319Y;ENSP00000431069:C319Y;ENSP00000415011:C368Y	ENSP00000407505:C319Y	C	+	2	0	SLC30A8	118254094	0.000000	0.05858	0.169000	0.22859	0.123000	0.20343	-0.707000	0.05041	-0.795000	0.04462	-0.143000	0.13931	TGT		PASS	0.473	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		41	96	41	96	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143624969	143624969	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr8:143624969T>A	ENST00000517894.1	+	30	5351	c.4457T>A	c.(4456-4458)aTg>aAg	p.M1486K	BAI1_ENST00000323289.5_Missense_Mutation_p.M1486K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1486	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1486K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAAGATCATGCACACCCGG	0.677																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(4456-4458)ATG>AAG		brain-specific angiogenesis inhibitor 1							23.0	28.0	26.0					8																	143624969		2061	4195	6256	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143624969T>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4457T>A	8.37:g.143624969T>A	ENSP00000430945:p.Met1486Lys						p.M1486K	NM_001702	NP_001693	O14514	BAI1_HUMAN			29	4640	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1486			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.			Missense_Mutation	SNP	ENST00000517894.1	37	c.4457T>A		.	.	.	.	.	.	.	.	.	.	T	17.56	3.419021	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.41758	0.99;0.99	4.42	4.42	0.53409	.	0.000000	0.85682	U	0.000000	T	0.62245	0.2412	M	0.77486	2.375	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.67860	-0.5561	10	0.87932	D	0	.	12.8463	0.57831	0.0:0.0:0.0:1.0	.	1486	E9PBK0	.	K	1486	ENSP00000430945:M1486K;ENSP00000313046:M1486K	ENSP00000313046:M1486K	M	+	2	0	BAI1	143621971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.708000	0.68377	1.635000	0.50512	0.459000	0.35465	ATG		PASS	0.677	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	8	3	8	---	---	---	---
RPS6	6194	broad.mit.edu	37	9	19376297	19376297	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:19376297C>A	ENST00000380394.4	-	6	802	c.744G>T	c.(742-744)caG>caT	p.Q248H	RPS6_ENST00000315377.4_Missense_Mutation_p.Q217H|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Missense_Mutation_p.Q217H|RP11-513M16.8_ENST00000609982.1_RNA	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	248					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.Q248H(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AATCTTATTTCTGACTGGATT	0.383																																						uc003znv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)CAG>CAT		ribosomal protein S6							46.0	50.0	49.0					9																	19376297		2201	4297	6498	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376297C>A		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.744G>T	9.37:g.19376297C>A	ENSP00000369757:p.Gln248His					RPS6_uc003znu.1_Missense_Mutation_p.Q217H	p.Q248H	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	786	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	248					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.744G>T	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102224	0.37048	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.47869	0.83;0.83;0.83	5.08	1.51	0.23008	.	0.118493	0.64402	D	0.000017	T	0.30823	0.0777	L	0.36672	1.1	0.80722	D	1	P	0.39520	0.676	B	0.36030	0.216	T	0.03095	-1.1073	9	.	.	.	-22.4019	7.0982	0.25321	0.0:0.5314:0.0:0.4686	.	248	P62753	RS6_HUMAN	H	248;217;217	ENSP00000369757:Q248H;ENSP00000369745:Q217H;ENSP00000369743:Q217H	.	Q	-	3	2	RPS6	19366297	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	0.924000	0.28777	0.359000	0.24239	-0.302000	0.09304	CAG		PASS	0.383	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		19	53	19	53	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32542506	32542506	+	Missense_Mutation	SNP	G	G	T	rs140126403		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:32542506G>T	ENST00000360538.2	-	3	2133	c.2017C>A	c.(2017-2019)Cgt>Agt	p.R673S	TOPORS_ENST00000379858.1_Missense_Mutation_p.R608S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	673	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R673S(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCACTGCTACGAGACCTTGAT	0.378																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2017-2019)CGT>AGT		topoisomerase I binding, arginine/serine-rich							259.0	244.0	249.0					9																	32542506		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542506G>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2017C>A	9.37:g.32542506G>T	ENSP00000353735:p.Arg673Ser					TOPORS_uc003zrc.2_Missense_Mutation_p.R606S	p.R673S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2184	-			673			Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2017C>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052647	0.07362	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18174	2.3;2.23	6.16	3.05	0.35203	.	0.539191	0.17256	N	0.180975	T	0.10035	0.0246	L	0.29908	0.895	0.23076	N	0.99833	B	0.32203	0.36	B	0.24701	0.055	T	0.23226	-1.0194	10	0.32370	T	0.25	0.0035	6.3037	0.21127	0.1466:0.0:0.6046:0.2488	.	673	Q9NS56	TOPRS_HUMAN	S	673;608	ENSP00000353735:R673S;ENSP00000369187:R608S	ENSP00000353735:R673S	R	-	1	0	TOPORS	32532506	0.817000	0.29147	0.928000	0.36995	0.535000	0.34838	2.595000	0.46197	0.792000	0.33850	-0.188000	0.12872	CGT		PASS	0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		6	249	6	249	---	---	---	---
NFX1	4799	broad.mit.edu	37	9	33318767	33318767	+	Nonsense_Mutation	SNP	G	G	T	rs142065044		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:33318767G>T	ENST00000379540.3	+	8	1689	c.1627G>T	c.(1627-1629)Gga>Tga	p.G543*	NFX1_ENST00000379521.4_Nonsense_Mutation_p.G543*|NFX1_ENST00000318524.6_Nonsense_Mutation_p.G543*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	543					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G543*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGTGTTATGTGGAACCGATGT	0.383																																						uc003zsq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1627-1629)GGA>TGA		nuclear transcription factor, X-box binding 1							233.0	216.0	222.0					9																	33318767		2203	4300	6503	SO:0001587	stop_gained	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33318767G>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1627G>T	9.37:g.33318767G>T	ENSP00000368856:p.Gly543*					SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Nonsense_Mutation_p.G543*|NFX1_uc003zso.2_Nonsense_Mutation_p.G543*|NFX1_uc003zsp.1_Nonsense_Mutation_p.G543*|NFX1_uc010mjr.1_Nonsense_Mutation_p.G543*|NFX1_uc003zsr.2_Nonsense_Mutation_p.G543*	p.G543*	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	8	1688	+			543					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Nonsense_Mutation	SNP	ENST00000379540.3	37	c.1627G>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	40	8.158840	0.98683	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-6.0604	17.6471	0.88151	0.0:0.0:1.0:0.0	.	.	.	.	X	543	.	ENSP00000317695:G543X	G	+	1	0	NFX1	33308767	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.313000	0.96297	2.758000	0.94735	0.655000	0.94253	GGA		PASS	0.383	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			6	185	6	185	---	---	---	---
PRSS3	5646	broad.mit.edu	37	9	33797929	33797929	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:33797929G>T	ENST00000361005.5	+	3	474	c.474G>T	c.(472-474)agG>agT	p.R158S	PRSS3_ENST00000342836.4_Missense_Mutation_p.R115S|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.R94S|PRSS3_ENST00000379405.3_Missense_Mutation_p.R101S	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R158S(1)|p.R101S(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AATACAACAGGGACACTCTGG	0.547																																						uc003ztj.3																			2	Substitution - Missense(2)		lung(2)		0						c.(472-474)AGG>AGT		mesotrypsin isoform 1 preproprotein							235.0	183.0	200.0					9																	33797929		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797929G>T		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.474G>T	9.37:g.33797929G>T	ENSP00000354280:p.Arg158Ser					uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.R115S|PRSS3_uc003ztl.3_Missense_Mutation_p.R101S	p.R158S	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	474	+			158			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.474G>T	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.203363	0.01581	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	3.62	-6.27	0.02026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.289127	0.48286	N	0.000194	T	0.56485	0.1988	N	0.03000	-0.44	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.62793	-0.6779	10	0.02654	T	1	.	5.8525	0.18701	0.1141:0.4121:0.3871:0.0867	.	101;158;115	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	S	158;113;115;94;101	ENSP00000354280:R158S;ENSP00000401249:R113S;ENSP00000340889:R115S;ENSP00000401828:R94S;ENSP00000368715:R101S	ENSP00000340889:R115S	R	+	3	2	PRSS3	33787929	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.548000	0.23314	-0.986000	0.03498	-2.059000	0.00401	AGG		PASS	0.547	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		6	157	6	157	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501472	90501472	+	Silent	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:90501472T>C	ENST00000325643.5	+	4	2136	c.2070T>C	c.(2068-2070)gaT>gaC	p.D690D		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	690					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D690D(1)									GCAGGAAGGATGTGCAGAAGA	0.607																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2068-2070)GAT>GAC		chromosome 9 open reading frame 79							53.0	67.0	62.0					9																	90501472		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90501472T>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2070T>C	9.37:g.90501472T>C						C9orf79_uc004apo.1_Silent_p.D502D	p.D690D	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2105	+			690					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2070T>C	CCDS6676.1																																																																																				PASS	0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		12	50	12	50	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139916916	139916916	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr9:139916916G>C	ENST00000371605.3	-	5	598	c.451C>G	c.(451-453)Ctg>Gtg	p.L151V	ABCA2_ENST00000341511.6_Missense_Mutation_p.L152V|ABCA2_ENST00000265662.5_Missense_Mutation_p.L152V|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	151					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.L152V(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCGAGTCCAGAGAGAAGGAA	0.637																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)CTG>GTG		ATP-binding cassette, sub-family A, member 2							28.0	35.0	33.0					9																	139916916		2051	4191	6242	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139916916G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.451C>G	9.37:g.139916916G>C	ENSP00000360666:p.Leu151Val					ABCA2_uc011mel.1_Missense_Mutation_p.L152V|ABCA2_uc004ckl.1_Missense_Mutation_p.L82V|ABCA2_uc004ckm.1_Missense_Mutation_p.L182V|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_Missense_Mutation_p.L82V	p.L151V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	599	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	151					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.451C>G		.	.	.	.	.	.	.	.	.	.	g	12.49	1.954685	0.34471	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88201	-2.35;-2.35;-2.35	4.39	4.39	0.52855	.	4.557930	0.00931	U	0.002703	D	0.85248	0.5653	L	0.37850	1.14	0.39183	D	0.96281	B;B;B	0.17465	0.022;0.022;0.002	B;B;B	0.17433	0.011;0.018;0.005	T	0.65857	-0.6066	10	0.25751	T	0.34	.	8.3548	0.32324	0.1115:0.0:0.8885:0.0	.	151;181;182	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	V	152;151;182;152	ENSP00000265662:L152V;ENSP00000360666:L151V;ENSP00000344155:L152V	ENSP00000265662:L152V	L	-	1	2	ABCA2	139036737	0.904000	0.30761	0.997000	0.53966	0.760000	0.43138	1.233000	0.32648	1.984000	0.57885	0.486000	0.48141	CTG		PASS	0.637	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	6	5	6	---	---	---	---
IPMK	253430	broad.mit.edu	37	10	59956140	59956140	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:59956140C>G	ENST00000373935.3	-	6	1270	c.948G>C	c.(946-948)aaG>aaC	p.K316N		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	316					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.K316N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						GCGCATACATCTTGGACAAGC	0.378																																						uc001jkb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(946-948)AAG>AAC		inositol polyphosphate multikinase							135.0	138.0	137.0					10																	59956140		2202	4300	6502	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956140C>G	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.948G>C	10.37:g.59956140C>G	ENSP00000363046:p.Lys316Asn						p.K316N	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1271	-			316						Missense_Mutation	SNP	ENST00000373935.3	37	c.948G>C	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992785	0.18966	.	.	ENSG00000151151	ENST00000373935	T	0.19105	2.17	5.35	-2.31	0.06765	.	0.185729	0.56097	D	0.000027	T	0.14874	0.0359	L	0.44542	1.39	0.25364	N	0.988751	P	0.38677	0.642	B	0.36808	0.233	T	0.19321	-1.0309	9	.	.	.	-5.6621	11.5642	0.50796	0.0:0.2523:0.0:0.7477	.	316	Q8NFU5	IPMK_HUMAN	N	316	ENSP00000363046:K316N	.	K	-	3	2	IPMK	59626146	0.999000	0.42202	0.549000	0.28204	0.370000	0.29829	0.378000	0.20569	-0.308000	0.08792	-0.225000	0.12378	AAG		PASS	0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		24	50	24	50	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70513624	70513624	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:70513624G>C	ENST00000265872.6	+	11	1253	c.1134G>C	c.(1132-1134)atG>atC	p.M378I	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000535016.1_Missense_Mutation_p.M363I|CCAR1_ENST00000543719.1_Missense_Mutation_p.M363I	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	378					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.M378I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTTGTGACATGATGGAACTAA	0.343																																						uc001joo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(1132-1134)ATG>ATC		cell-cycle and apoptosis regulatory protein 1							152.0	155.0	154.0					10																	70513624		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70513624G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1134G>C	10.37:g.70513624G>C	ENSP00000265872:p.Met378Ile					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.M183I|CCAR1_uc009xpx.1_Missense_Mutation_p.M352I|CCAR1_uc001jon.1_Missense_Mutation_p.M324I|CCAR1_uc010qiz.1_Missense_Mutation_p.M363I|CCAR1_uc010qja.1_Missense_Mutation_p.M363I|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	p.M378I	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			11	1253	+			378					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1134G>C	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544538	0.45280	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.03;2.02	5.95	5.95	0.96441	.	0.076957	0.85682	D	0.000000	T	0.12774	0.0310	N	0.13098	0.295	0.58432	D	0.999997	B;B;B	0.22480	0.015;0.07;0.003	B;B;B	0.19391	0.025;0.016;0.008	T	0.19289	-1.0310	10	0.15952	T	0.53	-13.064	13.5717	0.61851	0.0708:0.0:0.9292:0.0	.	363;378;352	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	378;363;363;363;352;183	ENSP00000265872:M378I;ENSP00000441820:M363I;ENSP00000445254:M363I;ENSP00000439252:M363I;ENSP00000438610:M352I;ENSP00000439642:M183I	ENSP00000265872:M378I	M	+	3	0	CCAR1	70183630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.965000	0.87945	2.810000	0.96702	0.650000	0.86243	ATG		PASS	0.343	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		23	57	23	57	---	---	---	---
KIAA1279	26128	broad.mit.edu	37	10	70775423	70775423	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:70775423G>A	ENST00000361983.4	+	7	1219	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	373					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.A373T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACTGTGTGATGCCATCTCTGC	0.413																																						uc001joy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)GCC>ACC		KIF1 binding protein							119.0	113.0	115.0					10																	70775423		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70775423G>A	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1117G>A	10.37:g.70775423G>A	ENSP00000354848:p.Ala373Thr						p.A373T	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			7	1213	+			373					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1117G>A	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132410	0.56828	.	.	ENSG00000198954	ENST00000361983	T	0.42513	0.97	5.51	4.54	0.55810	.	0.047847	0.85682	D	0.000000	T	0.25195	0.0612	N	0.08118	0	0.43971	D	0.996656	P	0.47409	0.895	P	0.45753	0.492	T	0.02167	-1.1202	10	0.13853	T	0.58	-15.9662	12.0356	0.53423	0.0:0.0:0.6713:0.3287	.	373	Q96EK5	KBP_HUMAN	T	373	ENSP00000354848:A373T	ENSP00000354848:A373T	A	+	1	0	KIAA1279	70445429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.926000	0.56491	2.763000	0.94921	0.650000	0.86243	GCC		PASS	0.413	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		20	72	20	72	---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88703344	88703344	+	Silent	SNP	C	C	T	rs140752811		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:88703344C>T	ENST00000372027.5	-	6	1518	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	399					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.E399E(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCCTCATGTCCTCCAGGGTGT	0.617																																						uc001kea.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1195-1197)GAG>GAA		multimerin 2 precursor							111.0	87.0	95.0					10																	88703344		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88703344C>T	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.1197G>A	10.37:g.88703344C>T						MMRN2_uc010qmn.1_Silent_p.E42E|MMRN2_uc009xtb.2_Silent_p.E356E	p.E399E	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	1324	-			399			Potential.		Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.1197G>A	CCDS7379.1																																																																																				PASS	0.617	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		16	49	16	49	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98469674	98469674	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:98469674A>T	ENST00000339364.5	-	2	199	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	27	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.L27Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGGTCTGCAGGTACTGGCA	0.597																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(79-81)CTG>CAG		phosphoinositide-3-kinase adaptor protein 1							57.0	50.0	52.0					10																	98469674		2202	4296	6498	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98469674A>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.80T>A	10.37:g.98469674A>T	ENSP00000339826:p.Leu27Gln						p.L27Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	208	-		Colorectal(252;0.0442)	27					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.80T>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.259152	0.59321	.	.	ENSG00000155629	ENST00000339364	T	0.24908	1.83	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	T	0.49525	0.1562	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52873	-0.8517	10	0.87932	D	0	-17.2996	13.0056	0.58703	1.0:0.0:0.0:0.0	.	27	Q6ZUJ8	BCAP_HUMAN	Q	27	ENSP00000339826:L27Q	ENSP00000339826:L27Q	L	-	2	0	PIK3AP1	98459664	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	6.817000	0.75252	2.069000	0.61940	0.533000	0.62120	CTG		PASS	0.597	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		5	21	5	21	---	---	---	---
RRP12	23223	broad.mit.edu	37	10	99126316	99126316	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:99126316C>A	ENST00000370992.4	-	28	3389	c.3278G>T	c.(3277-3279)cGa>cTa	p.R1093L	RRP12_ENST00000414986.1_Missense_Mutation_p.R1032L|RRP12_ENST00000536831.1_Missense_Mutation_p.R811L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R993L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1093						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R1093L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCCTTGCCTCGGCTTCTTTC	0.592																																						uc001knf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3277-3279)CGA>CTA		ribosomal RNA processing 12 homolog isoform 1							101.0	100.0	100.0					10																	99126316		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99126316C>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3278G>T	10.37:g.99126316C>A	ENSP00000360031:p.Arg1093Leu					RRP12_uc001kne.2_Missense_Mutation_p.R108L|RRP12_uc009xvl.2_Missense_Mutation_p.R210L|RRP12_uc009xvm.2_Missense_Mutation_p.R811L|RRP12_uc010qou.1_Missense_Mutation_p.R1032L|RRP12_uc009xvn.2_Missense_Mutation_p.R993L	p.R1093L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	28	3417	-		Colorectal(252;0.162)	1093					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3278G>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367736	0.42003	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.32988	1.44;1.44;1.43;1.43	5.05	2.05	0.26809	.	0.686199	0.14536	N	0.313597	T	0.24353	0.0590	L	0.59436	1.845	0.09310	N	0.999993	B;B;P;B	0.37688	0.259;0.076;0.605;0.088	B;B;B;B	0.34590	0.038;0.052;0.186;0.082	T	0.10965	-1.0607	10	0.28530	T	0.3	-2.5937	5.3574	0.16069	0.0:0.6017:0.1425:0.2558	.	1032;993;811;1093	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	1093;993;1032;811	ENSP00000360031:R1093L;ENSP00000324315:R993L;ENSP00000414863:R1032L;ENSP00000446184:R811L	ENSP00000324315:R993L	R	-	2	0	RRP12	99116306	0.000000	0.05858	0.716000	0.30569	0.959000	0.62525	-0.383000	0.07398	0.485000	0.27652	0.561000	0.74099	CGA		PASS	0.592	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		4	68	4	68	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104129063	104129063	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:104129063C>A	ENST00000369983.3	+	24	3326	c.3066C>A	c.(3064-3066)atC>atA	p.I1022I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1022					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.I1022I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGTGACATCCTGCGGGAGG	0.502																																						uc001kux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3064-3066)ATC>ATA		golgi-specific brefeldin A resistant guanine							135.0	123.0	127.0					10																	104129063		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104129063C>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3066C>A	10.37:g.104129063C>A						GBF1_uc001kuy.1_Silent_p.I1022I|GBF1_uc001kuz.1_Silent_p.I1023I	p.I1022I	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	24	3306	+		Colorectal(252;0.0236)	1022					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.3066C>A	CCDS7533.1																																																																																				PASS	0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			9	75	9	75	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124712423	124712423	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:124712423C>G	ENST00000481909.1	-	2	514	c.290G>C	c.(289-291)aGa>aCa	p.R97T	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	97								p.R97T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCCATATTTCTTGCTGAACT	0.453																																						uc001lgw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)AGA>ACA		hypothetical protein LOC80007							126.0	111.0	116.0					10																	124712423		2203	4297	6500	SO:0001583	missense	80007							g.chr10:124712423C>G	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.290G>C	10.37:g.124712423C>G	ENSP00000419126:p.Arg97Thr					C10orf88_uc001lgx.2_5'UTR	p.R97T	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	2	515	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	97					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.290G>C	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379944	0.61845	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.57	4.57	0.56435	.	0.000000	0.53938	U	0.000057	T	0.79233	0.4411	M	0.79475	2.455	0.42717	D	0.993669	D	0.89917	1.0	D	0.91635	0.999	T	0.83125	-0.0116	9	0.87932	D	0	.	15.5517	0.76158	0.0:1.0:0.0:0.0	.	97	Q9H8K7	CJ088_HUMAN	T	97	.	ENSP00000419126:R97T	R	-	2	0	C10orf88	124702413	0.957000	0.32711	0.842000	0.33263	0.595000	0.36748	5.023000	0.64084	2.059000	0.61396	0.585000	0.79938	AGA		PASS	0.453	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		6	79	6	79	---	---	---	---
BUB3	9184	broad.mit.edu	37	10	124915190	124915190	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:124915190G>T	ENST00000368865.4	+	3	421	c.212G>T	c.(211-213)tGg>tTg	p.W71L	BUB3_ENST00000538238.1_5'UTR|BUB3_ENST00000368858.5_Missense_Mutation_p.W71L|BUB3_ENST00000368859.2_Missense_Mutation_p.W71L	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.W71L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACGCATGCCTGGAGTGGAGGA	0.353																																					GBM(161;1111 1985 17553 20049 26037)	uc001lhe.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(211-213)TGG>TTG		budding uninhibited by benzimidazoles 3 isoform							101.0	93.0	96.0					10																	124915190		2203	4300	6503	SO:0001583	missense	9184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr10:124915190G>T	AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.212G>T	10.37:g.124915190G>T	ENSP00000357858:p.Trp71Leu					BUB3_uc009yah.2_Missense_Mutation_p.W23L|BUB3_uc001lhf.3_Missense_Mutation_p.W71L|BUB3_uc001lhd.2_Missense_Mutation_p.W71L|BUB3_uc010qud.1_5'UTR	p.W71L	NM_004725	NP_004716	O43684	BUB3_HUMAN			3	454	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	71			WD 2.		A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	c.212G>T	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435222	0.62955	.	.	ENSG00000154473	ENST00000368865;ENST00000368859;ENST00000368858;ENST00000407911	T;T;T;T	0.67345	-0.26;2.48;-0.26;-0.26	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	N	0.04018	-0.295	0.80722	D	1	B;P	0.34724	0.002;0.465	B;B	0.28011	0.003;0.085	T	0.52109	-0.8619	10	0.44086	T	0.13	-1.2225	18.838	0.92171	0.0:0.0:1.0:0.0	.	71;71	O43684;O43684-2	BUB3_HUMAN;.	L	71	ENSP00000357858:W71L;ENSP00000357852:W71L;ENSP00000357851:W71L;ENSP00000383941:W71L	ENSP00000357851:W71L	W	+	2	0	BUB3	124905180	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.383000	0.97214	2.431000	0.82371	0.655000	0.94253	TGG		PASS	0.353	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1			4	41	4	41	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129903515	129903515	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr10:129903515A>C	ENST00000368654.3	-	13	6964	c.6589T>G	c.(6589-6591)Ttg>Gtg	p.L2197V	MKI67_ENST00000368653.3_Missense_Mutation_p.L1837V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2197	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L2197V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCTCTTTCAAGCCAGCCAAG	0.502																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6589-6591)TTG>GTG		antigen identified by monoclonal antibody Ki-67							189.0	182.0	185.0					10																	129903515		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903515A>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6589T>G	10.37:g.129903515A>C	ENSP00000357643:p.Leu2197Val					MKI67_uc001lkf.2_Missense_Mutation_p.L1837V|MKI67_uc009yav.1_Missense_Mutation_p.L1772V|MKI67_uc009yaw.1_Missense_Mutation_p.L1347V	p.L2197V	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6784	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2197			16 X 122 AA approximate repeats.|10.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6589T>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.237865	0.39598	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02140	4.43;4.43	4.2	-6.06	0.02165	.	0.866025	0.09809	N	0.753012	T	0.03477	0.0100	L	0.55990	1.75	0.09310	N	1	B;D;P	0.53619	0.361;0.961;0.951	B;P;P	0.56434	0.047;0.798;0.76	T	0.20174	-1.0283	10	0.23302	T	0.38	.	0.4967	0.00573	0.3004:0.2978:0.1554:0.2464	.	2196;1837;2197	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2197;1837;2196	ENSP00000357643:L2197V;ENSP00000357642:L1837V	ENSP00000357642:L1837V	L	-	1	2	MKI67	129793505	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.999000	0.03697	-0.767000	0.04633	0.459000	0.35465	TTG		PASS	0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		24	108	24	108	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	611692	611692	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:611692C>G	ENST00000264555.5	+	18	4993	c.4865C>G	c.(4864-4866)gCg>gGg	p.A1622G	PHRF1_ENST00000533464.1_Missense_Mutation_p.A1618G|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1621G|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1620G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A1622G(1)|p.A1627G(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGGTGAAGGCGTACGTGGAC	0.602																																						uc001lqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4864-4866)GCG>GGG		PHD and ring finger domains 1							59.0	66.0	64.0					11																	611692		2153	4271	6424	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:611692C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4865C>G	11.37:g.611692C>G	ENSP00000264555:p.Ala1622Gly					PHRF1_uc010qwc.1_Missense_Mutation_p.A1621G|PHRF1_uc010qwd.1_Missense_Mutation_p.A1620G|PHRF1_uc010qwe.1_Missense_Mutation_p.A1618G|PHRF1_uc009yca.1_RNA	p.A1622G	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			18	4996	+			1622					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.4865C>G		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503976	0.85176	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.58	4.58	0.56647	.	0.000000	0.35805	N	0.002980	T	0.78704	0.4325	M	0.70275	2.135	0.80722	D	1	P;P;D;D	0.89917	0.795;0.915;1.0;1.0	P;P;D;D	0.97110	0.453;0.844;1.0;0.999	T	0.80393	-0.1401	10	0.54805	T	0.06	-34.8944	18.2622	0.90039	0.0:1.0:0.0:0.0	.	1618;1620;1621;1622	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	G	1622;1620;1621;1618	ENSP00000264555:A1622G;ENSP00000388589:A1620G;ENSP00000410626:A1621G;ENSP00000431870:A1618G	ENSP00000264555:A1622G	A	+	2	0	PHRF1	601692	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	5.949000	0.70257	2.487000	0.83934	0.561000	0.74099	GCG		PASS	0.602	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		15	26	15	26	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1266003	1266003	+	Silent	SNP	A	A	T	rs371333011		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:1266003A>T	ENST00000529681.1	+	31	7951	c.7893A>T	c.(7891-7893)ccA>ccT	p.P2631P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P2634P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2631	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2631P(1)|p.P2610P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCTTCCAGTGTGGATCA	0.637																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(9805-9807)CCA>CCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							143.0	174.0	164.0					11																	1266003		2119	4234	6353	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266003A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7893A>T	11.37:g.1266003A>T						MUC5B_uc001ltb.2_Silent_p.P2634P	p.P3269P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9933	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2631	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9807A>T	CCDS44515.2																																																																																				PASS	0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	56	11	56	---	---	---	---
TOLLIP	54472	broad.mit.edu	37	11	1311618	1311618	+	Missense_Mutation	SNP	C	C	T	rs143130045		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:1311618C>T	ENST00000317204.6	-	3	328	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000542915.1_Missense_Mutation_p.G19S|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000263646.7_Missense_Mutation_p.G41S|TOLLIP_ENST00000527886.1_5'UTR	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	69	C2.				autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)	p.G69S(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CGGGTCATGCCGTAATTCTTG	0.592																																						uc001lte.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GGC>AGC		toll interacting protein		C	SER/GLY	0,4400		0,0,2200	91.0	75.0	81.0		205	5.2	1.0	11	dbSNP_134	81	2,8596	2.2+/-6.3	0,2,4297	no	missense	TOLLIP	NM_019009.3	56	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	69/275	1311618	2,12996	2200	4299	6499	SO:0001583	missense	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1311618C>T	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.205G>A	11.37:g.1311618C>T	ENSP00000314733:p.Gly69Ser					TOLLIP_uc001ltd.2_5'UTR|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.G19S	p.G69S	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	3	316	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	69			C2.		B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	ENST00000317204.6	37	c.205G>A	CCDS7723.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164795	0.94727	0.0	2.33E-4	ENSG00000078902	ENST00000317204;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	D;D;D;D	0.84589	-1.87;-1.87;-1.86;-1.86	5.25	5.25	0.73442	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.97110	0.803;1.0	D	0.93323	0.6694	10	0.54805	T	0.06	-43.113	18.8611	0.92271	0.0:1.0:0.0:0.0	.	19;69	B3KR28;Q9H0E2	.;TOLIP_HUMAN	S	69;41;19;100;19	ENSP00000314733:G69S;ENSP00000263646:G41S;ENSP00000437404:G19S;ENSP00000434494:G19S	ENSP00000263646:G41S	G	-	1	0	TOLLIP	1268194	1.000000	0.71417	0.951000	0.38953	0.752000	0.42762	7.230000	0.78097	2.438000	0.82558	0.561000	0.74099	GGC		PASS	0.592	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		7	17	7	17	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619128	1619128	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:1619128C>G	ENST00000412090.1	-	1	396	c.353G>C	c.(352-354)tGt>tCt	p.C118S	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	118	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C118S(1)		large_intestine(1)|lung(2)|skin(1)	4		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)		GGGCTTACAACAGCTGGACTG	0.652																																						uc009ycx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)AAC>AAG		SubName: Full=cDNA FLJ30579 fis, clone BRAWH2006989, weakly similar to DNA-DIRECTED RNA POLYMERASE II LARGEST SUBUNIT;          EC=2.7.7.6;							98.0	117.0	111.0					11																	1619128		2202	4299	6501	SO:0001583	missense	338651							g.chr11:1619128C>G	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.353G>C	11.37:g.1619128C>G	ENSP00000400041:p.Cys118Ser					LOC338651_uc001ltt.1_RNA|KRTAP5-2_uc001ltv.2_Missense_Mutation_p.C118S	p.N76K	NR_021489						2	979	+								A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.228C>G	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136555	0.21123	.	.	ENSG00000205867	ENST00000412090	T	0.00922	5.54	4.0	4.0	0.46444	.	.	.	.	.	T	0.05960	0.0155	M	0.85542	2.76	0.32755	N	0.50587	D	0.71674	0.998	D	0.68483	0.958	T	0.02087	-1.1216	9	0.87932	D	0	.	14.1069	0.65096	0.0:1.0:0.0:0.0	.	118	Q701N4	KRA52_HUMAN	S	118	ENSP00000400041:C118S	ENSP00000400041:C118S	C	-	2	0	KRTAP5-2	1575704	0.993000	0.37304	0.994000	0.49952	0.020000	0.10135	3.184000	0.50926	1.990000	0.58119	0.573000	0.79308	TGT		PASS	0.652	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		17	82	17	82	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3727819	3727819	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:3727819C>A	ENST00000324932.7	-	21	3201	c.2781G>T	c.(2779-2781)gtG>gtT	p.V927V	NUP98_ENST00000355260.3_Silent_p.V927V|NUP98_ENST00000359171.4_Silent_p.V927V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	944					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.V927V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTCCAGTTCCACAACCCTCC	0.468			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2779-2781)GTG>GTT		nucleoporin 98kD isoform 1							226.0	199.0	209.0					11																	3727819		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3727819C>A	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2781G>T	11.37:g.3727819C>A						NUP98_uc001lyi.2_Silent_p.V927V|NUP98_uc001lyg.2_5'UTR	p.V927V	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	21	3072	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	944					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.2781G>T	CCDS7746.1																																																																																				PASS	0.468	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		6	125	6	125	---	---	---	---
OR51G2	81282	broad.mit.edu	37	11	4936660	4936660	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:4936660G>A	ENST00000322013.3	-	1	262	c.234C>T	c.(232-234)ctC>ctT	p.L78L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L78L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAAAGGGAGAGACCCAGGT	0.473																																						uc001lzr.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(232-234)CTC>CTT		olfactory receptor, family 51, subfamily G,							89.0	79.0	82.0					11																	4936660		2201	4298	6499	SO:0001819	synonymous_variant	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936660G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.234C>T	11.37:g.4936660G>A							p.L78L	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	234	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	78			Helical; Name=2; (Potential).		Q6IFH7	Silent	SNP	ENST00000322013.3	37	c.234C>T	CCDS31365.1																																																																																				PASS	0.473	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		5	48	5	48	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5289729	5289729	+	Silent	SNP	G	G	C	rs145809569		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5289729G>C	ENST00000380237.1	-	5	758	c.414C>G	c.(412-414)gtC>gtG	p.V138V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.V138V			P02100	HBE_HUMAN	hemoglobin, epsilon 1	138					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.V138V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAATGGCGACAGCAGACA	0.557																																						uc001mal.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)GTC>GTG		epsilon globin							146.0	127.0	133.0					11																	5289729		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289729G>C	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.414C>G	11.37:g.5289729G>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.V138V	p.V138V	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	667	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	138					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.414C>G	CCDS7756.1																																																																																				PASS	0.557	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		4	143	4	143	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344621	5344621	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5344621G>T	ENST00000328813.2	-	1	961	c.907C>A	c.(907-909)Cgc>Agc	p.R303S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R303S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAAAAGGCGGATAATGCCA	0.368																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(907-909)CGC>AGC		olfactory receptor, family 51, subfamily B,							86.0	81.0	83.0					11																	5344621		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344621G>T	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.907C>A	11.37:g.5344621G>T	ENSP00000327540:p.Arg303Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.R303S	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	962	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	303			Cytoplasmic (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.907C>A	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199105	0.22121	.	.	ENSG00000184881	ENST00000328813	T	0.39056	1.1	4.17	0.219	0.15274	.	0.432490	0.16613	U	0.206801	T	0.34483	0.0899	L	0.58101	1.795	0.09310	N	1	B	0.27351	0.176	B	0.26770	0.073	T	0.22730	-1.0208	10	0.46703	T	0.11	.	7.2308	0.26040	0.4984:0.0:0.5016:0.0	.	303	Q9Y5P1	O51B2_HUMAN	S	303	ENSP00000327540:R303S	ENSP00000327540:R303S	R	-	1	0	OR51B2	5301197	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.260000	0.08708	-0.112000	0.11979	-0.170000	0.13304	CGC		PASS	0.368	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		12	29	12	29	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344990	5344990	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5344990G>T	ENST00000328813.2	-	1	592	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q180K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGATTTCTTGGTGGAGGCAG	0.378																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(538-540)CAA>AAA		olfactory receptor, family 51, subfamily B,							89.0	88.0	89.0					11																	5344990		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344990G>T	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.538C>A	11.37:g.5344990G>T	ENSP00000327540:p.Gln180Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.Q180K	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	593	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	180			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.538C>A	CCDS31377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.19|15.19	2.761239|2.761239	0.49468|0.49468	.|.	.|.	ENSG00000176239|ENSG00000184881	ENST00000537299|ENST00000328813	.|T	.|0.00069	.|8.77	4.28|4.28	4.28|4.28	0.50868|0.50868	.|GPCR, rhodopsin-like superfamily (1);	.|0.000000	.|0.36854	.|U	.|0.002373	T|T	0.00552|0.00552	0.0018|0.0018	M|M	0.91818|0.91818	3.245|3.245	0.20074|0.20074	N|N	0.999934|0.999934	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.31752|0.31752	-0.9932|-0.9932	6|10	0.27785|0.54805	T|T	0.31|0.06	.|.	10.9589|10.9589	0.47374|0.47374	0.0:0.0:0.813:0.187|0.0:0.0:0.813:0.187	.|.	.|180	.|Q9Y5P1	.|O51B2_HUMAN	F|K	10|180	.|ENSP00000327540:Q180K	ENSP00000441886:L10F|ENSP00000327540:Q180K	L|Q	+|-	3|1	2|0	OR51B6|OR51B2	5301566|5301566	0.000000|0.000000	0.05858|0.05858	0.998000|0.998000	0.56505|0.56505	0.801000|0.801000	0.45260|0.45260	0.297000|0.297000	0.19101|0.19101	2.251000|2.251000	0.74343|0.74343	0.644000|0.644000	0.83932|0.83932	TTG|CAA		PASS	0.378	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		4	53	4	53	---	---	---	---
OR51Q1	390061	broad.mit.edu	37	11	5444070	5444070	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5444070C>G	ENST00000300778.4	+	1	730	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L214V(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTGGATCCTCTGCTCATTGT	0.498																																						uc010qzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)CTG>GTG		olfactory receptor, family 51, subfamily Q,							172.0	146.0	155.0					11																	5444070		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444070C>G	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.640C>G	11.37:g.5444070C>G	ENSP00000300778:p.Leu214Val					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L214V	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	640	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	214			Helical; Name=5; (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.640C>G	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	0.767	-0.767179	0.02974	.	.	ENSG00000167360	ENST00000300778	T	0.38722	1.12	5.0	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.302685	0.23708	N	0.045344	T	0.26882	0.0658	L	0.45051	1.395	0.20074	N	0.999931	B	0.25105	0.118	B	0.31614	0.133	T	0.13415	-1.0510	10	0.10377	T	0.69	.	1.8457	0.03158	0.1387:0.4296:0.2378:0.1939	.	214	Q8NH59	O51Q1_HUMAN	V	214	ENSP00000300778:L214V	ENSP00000300778:L214V	L	+	1	2	OR51Q1	5400646	0.000000	0.05858	0.993000	0.49108	0.321000	0.28281	-1.108000	0.03313	0.656000	0.30886	0.380000	0.24917	CTG		PASS	0.498	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		17	61	17	61	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905886	5905886	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5905886T>A	ENST00000316987.2	+	1	386	c.364T>A	c.(364-366)Tat>Aat	p.Y122N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y122N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATGGCTTATGACCGCTT	0.448																																						uc010qzs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(364-366)TAT>AAT		olfactory receptor, family 52, subfamily E,							124.0	109.0	114.0					11																	5905886		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905886T>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.364T>A	11.37:g.5905886T>A	ENSP00000321426:p.Tyr122Asn					TRIM5_uc001mbq.1_Intron	p.Y122N	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	364	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	122			Helical; Name=3; (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.364T>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.358408	0.61403	.	.	ENSG00000180974	ENST00000316987	T	0.02974	4.09	5.06	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.155915	0.30134	N	0.010340	T	0.14141	0.0342	M	0.90650	3.135	0.33007	D	0.527059	P	0.44734	0.842	P	0.55667	0.781	T	0.07731	-1.0757	10	0.87932	D	0	.	10.1352	0.42701	0.1499:0.0:0.0:0.8501	.	122	Q8NGH9	O52E4_HUMAN	N	122	ENSP00000321426:Y122N	ENSP00000321426:Y122N	Y	+	1	0	OR52E4	5862462	0.000000	0.05858	1.000000	0.80357	0.967000	0.64934	0.696000	0.25541	0.905000	0.36596	0.523000	0.50628	TAT		PASS	0.448	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		7	67	7	67	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5906038	5906038	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:5906038G>T	ENST00000316987.2	+	1	538	c.516G>T	c.(514-516)ggG>ggT	p.G172G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, 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.G172G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCTGTGGGCATAACATCG	0.453																																						uc010qzs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(514-516)GGG>GGT		olfactory receptor, family 52, subfamily E,							172.0	156.0	161.0					11																	5906038		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906038G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.516G>T	11.37:g.5906038G>T						TRIM5_uc001mbq.1_Intron	p.G172G	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	516	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	172			Extracellular (Potential).		Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.516G>T	CCDS31401.1																																																																																				PASS	0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		13	61	13	61	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6262865	6262865	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:6262865T>A	ENST00000379936.2	+	5	1237	c.1122T>A	c.(1120-1122)taT>taA	p.Y374*	CNGA4_ENST00000533426.1_Nonsense_Mutation_p.Y143*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	374					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y374*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTGAATATGTATGCCGCA	0.557																																						uc001mco.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1120-1122)TAT>TAA		cyclic nucleotide gated channel alpha 4							206.0	180.0	189.0					11																	6262865		2201	4296	6497	SO:0001587	stop_gained	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262865T>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1122T>A	11.37:g.6262865T>A	ENSP00000369268:p.Tyr374*					CNGA4_uc010raa.1_Nonsense_Mutation_p.Y143*|CNGA4_uc001mcn.2_Nonsense_Mutation_p.Y334*	p.Y374*	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1229	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	374			cNMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000379936.2	37	c.1122T>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	T	34	5.345959	0.95807	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.19	-1.3	0.09259	.	0.061929	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6629	0.51358	0.0:0.5531:0.0:0.4469	.	.	.	.	X	143;374	.	ENSP00000369268:Y374X	Y	+	3	2	CNGA4	6219441	0.375000	0.25089	0.990000	0.47175	0.951000	0.60555	-0.283000	0.08433	-0.398000	0.07679	0.533000	0.62120	TAT		PASS	0.557	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		60	128	60	128	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6643179	6643179	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:6643179C>T	ENST00000299441.3	-	21	10139	c.9728G>A	c.(9727-9729)gGc>gAc	p.G3243D	TPP1_ENST00000528657.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3243					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G3243D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACAGGGAGCCTTCATGGCT	0.637																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(9727-9729)GGC>GAC		dachsous 1 precursor							68.0	62.0	64.0					11																	6643179		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643179C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9728G>A	11.37:g.6643179C>T	ENSP00000299441:p.Gly3243Asp					TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	p.G3243D	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	10138	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3243			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9728G>A	CCDS7771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.279906|3.279906	0.59758|0.59758	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|T	.|0.57752	.|0.38	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.42964	.|D	.|0.000625	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.77103|0.77103	2.36|2.36	0.53005|0.53005	D|D	0.999968|0.999968	.|D	.|0.89917	.|1.0	.|D	.|0.69307	.|0.963	T|T	0.72360|0.72360	-0.4317|-0.4317	6|10	0.87932|0.52906	D|T	0|0.07	.|.	12.8695|12.8695	0.57957|0.57957	0.0:0.8359:0.1641:0.0|0.0:0.8359:0.1641:0.0	.|.	.|3243	.|Q96JQ0	.|PCD16_HUMAN	T|D	3|3243	.|ENSP00000299441:G3243D	ENSP00000390601:A3T|ENSP00000299441:G3243D	A|G	-|-	1|2	0|0	DCHS1|DCHS1	6599755|6599755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.824000|3.824000	0.55723|0.55723	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	GCT|GGC		PASS	0.637	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	13	7	13	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10822354	10822354	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:10822354G>T	ENST00000526148.1	-	16	2078	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P523Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P523Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P485Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.P523Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GATAAGCGGTGGATTAGTTTT	0.383																																						uc001mjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1567-1569)CCA>CAA		eukaryotic translation initiation factor 4							119.0	114.0	115.0					11																	10822354		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822354G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1568C>A	11.37:g.10822354G>T	ENSP00000433664:p.Pro523Gln					EIF4G2_uc001mjb.2_Missense_Mutation_p.P317Q|EIF4G2_uc009ygf.2_Missense_Mutation_p.P317Q|EIF4G2_uc001mjd.2_Missense_Mutation_p.P485Q	p.P523Q	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	16	1985	-			523						Missense_Mutation	SNP	ENST00000526148.1	37	c.1568C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006145	0.74932	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.50001	2.2;2.2;2.2;2.19;0.76	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.59436	1.845	0.47737	D	0.999503	P;P	0.49961	0.93;0.828	B;B	0.42062	0.289;0.374	T	0.63404	-0.6645	9	0.54805	T	0.06	-5.2241	16.6692	0.85261	0.0:0.0:0.8693:0.1307	.	523;596	P78344;B4DZF2	IF4G2_HUMAN;.	Q	523;523;523;485;596;28	ENSP00000433664:P523Q;ENSP00000433371:P523Q;ENSP00000340281:P523Q;ENSP00000379778:P485Q;ENSP00000433561:P28Q	ENSP00000340281:P523Q	P	-	2	0	EIF4G2	10778930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	1.531000	0.49152	0.650000	0.86243	CCA		PASS	0.383	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		5	53	5	53	---	---	---	---
USP47	55031	broad.mit.edu	37	11	11970068	11970068	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:11970068G>C	ENST00000399455.2	+	23	3491	c.3371G>C	c.(3370-3372)aGa>aCa	p.R1124T	USP47_ENST00000339865.5_Missense_Mutation_p.R1036T|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R1104T	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1124					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R1036T(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAGAATACAGAGTTAAAGTA	0.299																																						uc001mjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3310-3312)AGA>ACA		ubiquitin specific protease 47							55.0	56.0	56.0					11																	11970068		1801	4057	5858	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11970068G>C	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3371G>C	11.37:g.11970068G>C	ENSP00000382382:p.Arg1124Thr					USP47_uc001mjr.2_Missense_Mutation_p.R1036T|USP47_uc009ygi.2_5'Flank	p.R1104T	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	22	4074	+			1124					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3311G>C		.	.	.	.	.	.	.	.	.	.	G	29.5	5.009394	0.93346	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94184	-3.37;-3.37;-3.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	L	0.53249	1.67	0.80722	D	1	D;D	0.57899	0.967;0.981	P;D	0.66351	0.879;0.943	D	0.95017	0.8157	10	0.45353	T	0.12	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	1104;1036	E9PM46;Q96K76-2	.;.	T	1036;1104;1124	ENSP00000339957:R1036T;ENSP00000433146:R1104T;ENSP00000382382:R1124T	ENSP00000339957:R1036T	R	+	2	0	USP47	11926644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.541000	0.85698	0.591000	0.81541	AGA		PASS	0.299	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		3	58	3	58	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20907010	20907010	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:20907010A>G	ENST00000357134.5	+	5	679	c.527A>G	c.(526-528)gAc>gGc	p.D176G	NELL1_ENST00000325319.5_Missense_Mutation_p.D119G|NELL1_ENST00000532434.1_Missense_Mutation_p.D176G|NELL1_ENST00000298925.5_Missense_Mutation_p.D204G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	176	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.D176G(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGTGTGATAGACCCTCCAGAT	0.418																																						uc001mqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(526-528)GAC>GGC		nel-like 1 isoform 1 precursor							130.0	123.0	126.0					11																	20907010		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20907010A>G	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.527A>G	11.37:g.20907010A>G	ENSP00000349654:p.Asp176Gly					NELL1_uc001mqf.2_Missense_Mutation_p.D176G|NELL1_uc009yid.2_Missense_Mutation_p.D204G|NELL1_uc010rdo.1_Missense_Mutation_p.D119G|NELL1_uc010rdp.1_Intron	p.D176G	NM_006157	NP_006148	Q92832	NELL1_HUMAN			5	680	+			176			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.527A>G	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107242	0.77096	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.78364	4.45;4.45;-1.17;4.45	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.052636	0.64402	D	0.000001	D	0.85191	0.5640	L	0.58428	1.81	0.53688	D	0.999975	P;D;D;D	0.76494	0.93;0.999;0.984;0.995	P;D;P;D	0.81914	0.623;0.995;0.888;0.949	D	0.83988	0.0336	10	0.33940	T	0.23	-15.2035	15.2875	0.73838	1.0:0.0:0.0:0.0	.	119;204;176;176	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	G	204;176;119;176	ENSP00000298925:D204G;ENSP00000349654:D176G;ENSP00000317837:D119G;ENSP00000437170:D176G	ENSP00000298925:D204G	D	+	2	0	NELL1	20863586	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.414000	0.66405	2.082000	0.62665	0.533000	0.62120	GAC		PASS	0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		8	25	8	25	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761502	55761502	+	Silent	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:55761502A>T	ENST00000278409.1	-	1	599	c.600T>A	c.(598-600)tcT>tcA	p.S200S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	200					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.S200S(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGCCAAAATAGAACTTATGC	0.453																																						uc010riv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(598-600)TCT>TCA		olfactory receptor, family 5, subfamily F,							80.0	74.0	76.0					11																	55761502		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761502A>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.600T>A	11.37:g.55761502A>T							p.S200S	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	600	-	Esophageal squamous(21;0.00448)		200			Helical; Name=5; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.600T>A	CCDS31515.1																																																																																				PASS	0.453	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	54	7	54	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043843	56043843	+	Silent	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:56043843T>A	ENST00000313033.2	+	1	815	c.729T>A	c.(727-729)gcT>gcA	p.A243A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A243A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGCAGTCTGCTGAAGGGAGGA	0.423																																						uc001nio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(727-729)GCT>GCA		olfactory receptor, family 5, subfamily T,							220.0	198.0	205.0					11																	56043843		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043843T>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.729T>A	11.37:g.56043843T>A							p.A243A	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	729	+	Esophageal squamous(21;0.00448)		243			Cytoplasmic (Potential).		B2RNM9	Silent	SNP	ENST00000313033.2	37	c.729T>A	CCDS31525.1																																																																																				PASS	0.423	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		20	117	20	117	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57466569	57466569	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:57466569C>T	ENST00000287169.3	+	11	3023	c.1661C>T	c.(1660-1662)tCa>tTa	p.S554L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S501L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	554					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S554L(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTGCGCCAGTCACCCCCACTC	0.612																																						uc001nkx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1660-1662)TCA>TTA		zinc finger, DHHC domain containing 5							60.0	65.0	63.0					11																	57466569		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466569C>T	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1661C>T	11.37:g.57466569C>T	ENSP00000287169:p.Ser554Leu					ZDHHC5_uc001nky.1_Missense_Mutation_p.S501L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S368L	p.S554L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			11	2917	+			554					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1661C>T	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818412	0.50633	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.58358	0.34;1.34	5.17	5.17	0.71159	.	0.951642	0.08742	N	0.900378	T	0.36496	0.0969	N	0.08118	0	0.48975	D	0.999735	B	0.27498	0.18	B	0.18871	0.023	T	0.09143	-1.0688	10	0.32370	T	0.25	-13.1477	16.6251	0.84968	0.0:1.0:0.0:0.0	.	554	Q9C0B5	ZDHC5_HUMAN	L	501;554	ENSP00000432202:S501L;ENSP00000287169:S554L	ENSP00000287169:S554L	S	+	2	0	ZDHHC5	57223145	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.922000	0.63404	2.700000	0.92200	0.563000	0.77884	TCA		PASS	0.612	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	43	14	43	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58893612	58893612	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:58893612T>C	ENST00000343597.3	+	4	2233	c.2042T>C	c.(2041-2043)aTt>aCt	p.I681T	FAM111B_ENST00000411426.1_Missense_Mutation_p.I651T|FAM111B_ENST00000529618.1_Missense_Mutation_p.I651T	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	681							catalytic activity (GO:0003824)	p.I681T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATGCCCTTATTGAATTTGGT	0.363																																						uc001nnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2041-2043)ATT>ACT		hypothetical protein LOC374393 isoform a							103.0	101.0	102.0					11																	58893612		2201	4295	6496	SO:0001583	missense	374393						catalytic activity	g.chr11:58893612T>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.2042T>C	11.37:g.58893612T>C	ENSP00000341565:p.Ile681Thr					FAM111B_uc001nnm.2_Missense_Mutation_p.I651T|FAM111B_uc010rko.1_Missense_Mutation_p.I651T	p.I681T	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	2285	+			681					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.2042T>C	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206560	0.58343	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.50813	0.73;0.73;0.73	4.47	4.47	0.54385	Peptidase cysteine/serine, trypsin-like (1);	0.176293	0.35320	N	0.003286	T	0.65101	0.2659	M	0.74881	2.28	0.30016	N	0.814789	D	0.76494	0.999	D	0.67725	0.953	T	0.66850	-0.5819	10	0.87932	D	0	.	11.6529	0.51299	0.0:0.0:0.0:1.0	.	681	Q6SJ93	F111B_HUMAN	T	651;651;681	ENSP00000393855:I651T;ENSP00000432875:I651T;ENSP00000341565:I681T	ENSP00000341565:I681T	I	+	2	0	FAM111B	58650188	0.981000	0.34729	0.689000	0.30133	0.004000	0.04260	3.592000	0.53993	2.018000	0.59344	0.528000	0.53228	ATT		PASS	0.363	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		20	59	20	59	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59420425	59420425	+	Silent	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:59420425G>C	ENST00000300146.9	-	10	1272	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	396	Involved in RNA-binding.|Involved in nuclear foci localization.|Region H.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.L396L(2)		central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GATCCTTTCGGAGATGATCTT	0.473																																						uc001noe.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1186-1188)CTC>CTG		protein associated with topoisomerase II homolog							168.0	157.0	161.0					11																	59420425		1927	4118	6045	SO:0001819	synonymous_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59420425G>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1188C>G	11.37:g.59420425G>C						PATL1_uc009yms.1_Silent_p.L366L|PATL1_uc010rkw.1_Silent_p.L101L	p.L396L	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			10	1331	-			396			Region H.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	c.1188C>G	CCDS44613.1																																																																																				PASS	0.473	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		4	135	4	135	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294858	62294858	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:62294858G>T	ENST00000378024.4	-	5	7305	c.7031C>A	c.(7030-7032)cCa>cAa	p.P2344Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2344					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.P2344Q(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)				ATCCAATTCTGGACCTTTTAA	0.438																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7030-7032)CCA>CAA		AHNAK nucleoprotein isoform 1							127.0	138.0	134.0					11																	62294858		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294858G>T	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.7031C>A	11.37:g.62294858G>T	ENSP00000367263:p.Pro2344Gln					AHNAK_uc001ntk.1_Intron	p.P2344Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7331	-		Melanoma(852;0.155)	2344					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7031C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586848	0.46110	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03094	4.05	3.34	3.34	0.38264	.	0.000000	0.40554	N	0.001061	T	0.27134	0.0665	H	0.95679	3.705	0.35378	D	0.789626	D	0.89917	1.0	D	0.87578	0.998	T	0.59920	-0.7363	10	0.87932	D	0	-4.2463	15.1867	0.73009	0.0:0.0:1.0:0.0	.	2344	Q09666	AHNK_HUMAN	Q	433;2344	ENSP00000367263:P2344Q	ENSP00000244934:P433Q	P	-	2	0	AHNAK	62051434	1.000000	0.71417	0.025000	0.17156	0.785000	0.44390	4.091000	0.57700	1.808000	0.52836	0.298000	0.19748	CCA		PASS	0.438	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	110	6	110	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64417926	64417926	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:64417926G>T	ENST00000377551.1	-	14	3314	c.3103C>A	c.(3103-3105)Ctc>Atc	p.L1035I	NRXN2_ENST00000377559.3_Missense_Mutation_p.L995I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.L1035I|NRXN2_ENST00000409571.1_Missense_Mutation_p.L1028I			Q9P2S2	NRX2A_HUMAN	neurexin 2	1035	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.L1035I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCACCTTTGAGATCGAGGTTT	0.637																																						uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(3103-3105)CTC>ATC		neurexin 2 isoform alpha-1 precursor							145.0	132.0	136.0					11																	64417926		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64417926G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3103C>A	11.37:g.64417926G>T	ENSP00000366774:p.Leu1035Ile					NRXN2_uc001oas.2_Missense_Mutation_p.L995I|NRXN2_uc001oaq.2_Missense_Mutation_p.L702I	p.L1035I	NM_015080	NP_055895	P58401	NRX2B_HUMAN			16	3542	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3103C>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446831	0.84101	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.49	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38837	U	0.001543	D	0.87744	0.6254	M	0.76938	2.355	0.53005	D	0.999963	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.951;0.994	D	0.88117	0.2829	10	0.87932	D	0	.	8.6055	0.33771	0.1032:0.0:0.8968:0.0	.	995;1035;781	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	1035;995;1035;995;1028	ENSP00000366774:L1035I;ENSP00000366782:L995I;ENSP00000265459:L1035I;ENSP00000386416:L1028I	ENSP00000265459:L1035I	L	-	1	0	NRXN2	64174502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.554000	0.67294	2.488000	0.83962	0.655000	0.94253	CTC		PASS	0.637	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	72	5	72	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68201264	68201264	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:68201264G>A	ENST00000294304.7	+	18	4064	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1320	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E1320K(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCGACGGCGAGGCAGACTG	0.706																																						uc001ont.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3958-3960)GAG>AAG		low density lipoprotein receptor-related protein							34.0	34.0	34.0					11																	68201264		2199	4292	6491	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201264G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3958G>A	11.37:g.68201264G>A	ENSP00000294304:p.Glu1320Lys					LRP5_uc009ysg.2_Missense_Mutation_p.E730K	p.E1320K	NM_002335	NP_002326	O75197	LRP5_HUMAN			18	4033	+			1320			LDL-receptor class A 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3958G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689790	0.48097	.	.	ENSG00000162337	ENST00000294304	D	0.95656	-3.77	4.39	4.39	0.52855	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.48767	U	0.000173	D	0.92384	0.7583	M	0.62723	1.935	0.80722	D	1	P;P	0.40197	0.706;0.706	B;B	0.33568	0.166;0.166	D	0.91678	0.5356	10	0.07990	T	0.79	.	17.2343	0.86994	0.0:0.0:1.0:0.0	.	1320;1320	Q9UES7;O75197	.;LRP5_HUMAN	K	1320	ENSP00000294304:E1320K	ENSP00000294304:E1320K	E	+	1	0	LRP5	67957840	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	7.517000	0.81783	2.298000	0.77334	0.456000	0.33151	GAG		PASS	0.706	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		6	13	6	13	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71724063	71724063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:71724063G>A	ENST00000393695.3	-	15	4817	c.4486C>T	c.(4486-4488)Cga>Tga	p.R1496*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.R1496*|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R1496*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGTGCTTCTCGCTGCACCTCA	0.597			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(4486-4488)CGA>TGA		nuclear mitotic apparatus protein 1							111.0	100.0	104.0					11																	71724063		2200	4293	6493	SO:0001587	stop_gained	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724063G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4486C>T	11.37:g.71724063G>A	ENSP00000377298:p.Arg1496*					NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1059*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1059*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001oro.1_Nonsense_Mutation_p.R1496*	p.R1496*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	4658	-			1496			Potential.			Nonsense_Mutation	SNP	ENST00000393695.3	37	c.4486C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	45	11.553202	0.99575	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.	.	.	5.14	4.19	0.49359	.	0.853627	0.10044	N	0.723096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8362	0.85957	0.0:0.1392:0.8608:0.0	.	.	.	.	X	1496;1496;1059;465	.	ENSP00000351851:R1496X	R	-	1	2	NUMA1	71401711	1.000000	0.71417	0.807000	0.32361	0.771000	0.43674	4.993000	0.63895	2.665000	0.90641	0.655000	0.94253	CGA		PASS	0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			13	67	13	67	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92088060	92088060	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:92088060G>A	ENST00000298047.6	+	1	2799	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	FAT3_ENST00000541502.1_Missense_Mutation_p.D928N|FAT3_ENST00000525166.1_Missense_Mutation_p.D778N|FAT3_ENST00000409404.2_Missense_Mutation_p.D928N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	928	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D928N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTTTAGATGATGTCAATGA	0.438										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2782-2784)GAT>AAT		FAT tumor suppressor homolog 3							142.0	139.0	140.0					11																	92088060		1884	4129	6013	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088060G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2782G>A	11.37:g.92088060G>A	ENSP00000298047:p.Asp928Asn	TCGA Ovarian(4;0.039)					p.D928N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2799	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	928			Cadherin 8.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2782G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.223312	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.73363	3.92;3.92;-0.74;3.92	5.74	5.74	0.90152	.	.	.	.	.	D	0.89935	0.6859	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91732	0.5397	9	0.87932	D	0	.	18.919	0.92518	0.0:0.0:1.0:0.0	.	928	Q8TDW7-3	.	N	928;928;928;778	ENSP00000298047:D928N;ENSP00000387040:D928N;ENSP00000443786:D928N;ENSP00000432586:D778N	ENSP00000298047:D928N	D	+	1	0	FAT3	91727708	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.727000	0.98787	2.722000	0.93159	0.591000	0.81541	GAT		PASS	0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		25	91	25	91	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107299540	107299540	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:107299540T>C	ENST00000282251.5	-	8	1445	c.1418A>G	c.(1417-1419)aAg>aGg	p.K473R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K473R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	473							catalytic activity (GO:0003824)	p.K473R(1)|p.K319R(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAATGTAGACTTTGTATCCCG	0.348																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1417-1419)AAG>AGG		CWF19-like 2, cell cycle control							152.0	159.0	156.0					11																	107299540		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107299540T>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1418A>G	11.37:g.107299540T>C	ENSP00000282251:p.Lys473Arg					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.K473R	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1448	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	473					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1418A>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	8.030	0.761582	0.15914	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.27104	1.69;1.69	5.42	-1.56	0.08532	.	0.868173	0.10348	N	0.685408	T	0.12390	0.0301	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34700	-0.9818	10	0.16896	T	0.51	0.3239	1.9941	0.03452	0.3427:0.0681:0.2359:0.3533	.	473	Q2TBE0	C19L2_HUMAN	R	473	ENSP00000282251:K473R;ENSP00000387533:K473R	ENSP00000282251:K473R	K	-	2	0	CWF19L2	106804750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.455000	0.21843	-0.467000	0.06932	-0.387000	0.06579	AAG		PASS	0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		14	118	14	118	---	---	---	---
TMEM136	219902	broad.mit.edu	37	11	120198201	120198201	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:120198201C>T	ENST00000375095.2	+	2	292	c.51C>T	c.(49-51)ctC>ctT	p.L17L	TMEM136_ENST00000529187.1_Silent_p.L39L|TMEM136_ENST00000314475.2_Silent_p.L39L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	17						integral component of membrane (GO:0016021)		p.L39L(2)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GTGGCTGGCTCTCGCTCTATA	0.507																																						uc001pxh.1																			2	Substitution - coding silent(2)	p.W17*(1)	lung(2)	ovary(1)	1						c.(49-51)CTC>CTT		transmembrane protein 136							144.0	131.0	136.0					11																	120198201		2203	4299	6502	SO:0001819	synonymous_variant	219902					integral to membrane		g.chr11:120198201C>T	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.51C>T	11.37:g.120198201C>T						TMEM136_uc001pxg.2_Silent_p.L39L|TMEM136_uc010rzm.1_Silent_p.L17L|TMEM136_uc001pxj.2_Silent_p.L39L|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_Intron	p.L17L	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	2	114	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	17			Helical; (Potential).		B4DGQ4|B4E230|Q8IZ79	Silent	SNP	ENST00000375095.2	37	c.51C>T	CCDS55793.1																																																																																				PASS	0.507	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		11	25	11	25	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120352085	120352085	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:120352085C>G	ENST00000397843.2	+	39	4520	c.4354C>G	c.(4354-4356)Cac>Gac	p.H1452D	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.H1433D|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.H1349D	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1452					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H1452D(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGAATCCACCCACCAGCAGCA	0.547			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(4354-4356)CAC>GAC		Rho guanine nucleotide exchange factor (GEF) 12							82.0	82.0	82.0					11																	120352085		1967	4184	6151	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352085C>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4354C>G	11.37:g.120352085C>G	ENSP00000380942:p.His1452Asp					ARHGEF12_uc009zau.1_Missense_Mutation_p.H1349D	p.H1452D	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4361	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1452					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.4354C>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947590	0.18356	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.63744	0.04;-0.06;0.04	5.98	-0.0178	0.13967	.	0.557548	0.16148	N	0.227408	T	0.37404	0.1002	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.33940	T	0.23	1.2122	5.4976	0.16811	0.0:0.4942:0.2578:0.248	.	1452	Q9NZN5	ARHGC_HUMAN	D	1452;1433;1349	ENSP00000380942:H1452D;ENSP00000349056:H1433D;ENSP00000432984:H1349D	ENSP00000349056:H1433D	H	+	1	0	ARHGEF12	119857295	0.024000	0.19004	0.030000	0.17652	0.501000	0.33797	0.103000	0.15292	0.025000	0.15241	0.655000	0.94253	CAC		PASS	0.547	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	29	5	29	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121440877	121440877	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:121440877C>G	ENST00000260197.7	+	23	3364	c.3235C>G	c.(3235-3237)Ctt>Gtt	p.L1079V	SORL1_ENST00000525532.1_Missense_Mutation_p.L23V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1079	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.L1079V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAACACCTGTCTTCGCAACCA	0.483																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(3235-3237)CTT>GTT		sortilin-related receptor containing LDLR class							227.0	181.0	197.0					11																	121440877		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121440877C>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3235C>G	11.37:g.121440877C>G	ENSP00000260197:p.Leu1079Val						p.L1079V	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	23	3315	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1079			Extracellular (Potential).|LDL-receptor class A 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3235C>G	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647179	0.47258	.	.	ENSG00000137642	ENST00000260197;ENST00000525532	D;D	0.95377	-3.69;-3.69	5.51	5.51	0.81932	.	0.073043	0.53938	D	0.000043	D	0.94843	0.8334	L	0.57536	1.79	0.80722	D	1	P	0.49862	0.929	P	0.49922	0.626	D	0.92935	0.6367	10	0.25751	T	0.34	.	12.7244	0.57162	0.0:0.9249:0.0:0.0751	.	1079	Q92673	SORL_HUMAN	V	1079;23	ENSP00000260197:L1079V;ENSP00000434634:L23V	ENSP00000260197:L1079V	L	+	1	0	SORL1	120946087	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	2.510000	0.45468	2.583000	0.87209	0.655000	0.94253	CTT		PASS	0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		12	89	12	89	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	123995012	123995012	+	Silent	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:123995012A>G	ENST00000456829.2	+	11	1484	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	VWA5A_ENST00000392748.1_Silent_p.R411R|VWA5A_ENST00000449321.1_Silent_p.R411R|VWA5A_ENST00000392744.4_Silent_p.R427R|VWA5A_ENST00000361352.5_Silent_p.R411R|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	411	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.R411R(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGATCAACAGACAGAAACACA	0.398																																						uc001pzu.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1231-1233)AGA>AGG		BCSC-1 isoform 1							84.0	79.0	81.0					11																	123995012		2201	4299	6500	SO:0001819	synonymous_variant	4013							g.chr11:123995012A>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1233A>G	11.37:g.123995012A>G						VWA5A_uc001pzr.2_Silent_p.R411R|VWA5A_uc001pzs.2_Silent_p.R411R|VWA5A_uc010sae.1_Silent_p.R427R|VWA5A_uc001pzt.2_Silent_p.R411R	p.R411R	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			11	1442	+			411			VWFA.		Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	c.1233A>G	CCDS8444.1																																																																																				PASS	0.398	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		3	17	3	17	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440254	124440254	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr11:124440254A>G	ENST00000284287.3	+	1	362	c.290A>G	c.(289-291)aAg>aGg	p.K97R		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	97					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K97R(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATTACCCCTAAGATGCTGGTG	0.453																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)AAG>AGG		olfactory receptor, family 8, subfamily A,							182.0	166.0	171.0					11																	124440254		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440254A>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.290A>G	11.37:g.124440254A>G	ENSP00000284287:p.Lys97Arg						p.K97R	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	290	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	97			Helical; Name=2; (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.290A>G	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068328	0.55539	.	.	ENSG00000196119	ENST00000284287	T	0.01347	4.99	5.03	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000163	T	0.02455	0.0075	L	0.60845	1.875	0.26823	N	0.968745	B	0.24132	0.098	B	0.29942	0.109	T	0.25152	-1.0140	10	0.59425	D	0.04	.	10.0554	0.42241	0.9208:0.0:0.0792:0.0	.	97	Q8NGG7	OR8A1_HUMAN	R	97	ENSP00000284287:K97R	ENSP00000284287:K97R	K	+	2	0	OR8A1	123945464	0.000000	0.05858	0.989000	0.46669	0.969000	0.65631	0.293000	0.19029	0.950000	0.37743	0.528000	0.53228	AAG		PASS	0.453	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		28	63	28	63	---	---	---	---
C12orf5	57103	broad.mit.edu	37	12	4460527	4460527	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:4460527G>C	ENST00000179259.4	+	5	432	c.365G>C	c.(364-366)gGa>gCa	p.G122A	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	122					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.G122A(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			CCGCCCGGAGGAGAGACGCTG	0.488																																					Colon(1;100 192 35375 49454 52532)	uc001qmp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(364-366)GGA>GCA		TP53-induced glycolysis and apoptosis regulator							83.0	72.0	76.0					12																	4460527		2203	4300	6503	SO:0001583	missense	57103					intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	g.chr12:4460527G>C	AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.365G>C	12.37:g.4460527G>C	ENSP00000179259:p.Gly122Ala						p.G122A	NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)		5	444	+			122					B2R840	Missense_Mutation	SNP	ENST00000179259.4	37	c.365G>C	CCDS8525.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281639	0.40394	.	.	ENSG00000078237	ENST00000179259	T	0.76186	-1.0	5.46	3.61	0.41365	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	L	0.42581	1.335	0.52501	D	0.999953	D	0.69078	0.997	D	0.68483	0.958	T	0.74878	-0.3514	10	0.35671	T	0.21	-5.4674	11.0085	0.47649	0.0703:0.1301:0.7996:0.0	.	122	Q9NQ88	TIGAR_HUMAN	A	122	ENSP00000179259:G122A	ENSP00000179259:G122A	G	+	2	0	C12orf5	4330788	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	5.551000	0.67274	0.648000	0.30732	0.585000	0.79938	GGA		PASS	0.488	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398290.1	NM_020375		8	29	8	29	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:7045484C>G	ENST00000356654.4	+	5	1291	c.1054C>G	c.(1054-1056)Ctg>Gtg	p.L352V	ATN1_ENST00000396684.2_Missense_Mutation_p.L352V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612																																						uc001qrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1054-1056)CTG>GTG		atrophin-1							129.0	133.0	132.0					12																	7045484		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045484C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1054C>G	12.37:g.7045484C>G	ENSP00000349076:p.Leu352Val					ATN1_uc001qrx.1_Missense_Mutation_p.L352V|ATN1_uc001qry.1_Missense_Mutation_p.L351V	p.L352V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1291	+			352					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1054C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.716629	0.30413	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.53423	0.62;0.62;0.62	3.95	2.07	0.26955	.	0.000000	0.28140	U	0.016450	T	0.33731	0.0873	N	0.22421	0.69	0.28923	N	0.892007	P;B	0.47841	0.901;0.369	P;B	0.47044	0.535;0.222	T	0.15206	-1.0445	10	0.21014	T	0.42	.	7.6996	0.28615	0.0:0.8011:0.0:0.1989	.	352;352	Q86V38;P54259	.;ATN1_HUMAN	V	352	ENSP00000349076:L352V;ENSP00000379915:L352V;ENSP00000441744:L352V	ENSP00000349076:L352V	L	+	1	2	ATN1	6915745	0.060000	0.20803	0.738000	0.30950	0.813000	0.45954	0.833000	0.27504	0.778000	0.33520	0.586000	0.80456	CTG		PASS	0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		12	140	12	140	---	---	---	---
PRH2	5555	broad.mit.edu	37	12	11081919	11081919	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:11081919C>A	ENST00000396400.3	+	1	85	c.47C>A	c.(46-48)gCt>gAt	p.A16D	PRH2_ENST00000381847.3_Missense_Mutation_p.A16D|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	16						extracellular space (GO:0005615)		p.A16D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TTCAGCTCAGCTCAGGACTTA	0.517																																						uc009zhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GCT>GAT		proline-rich protein HaeIII subfamily 2							98.0	93.0	95.0					12																	11081919		2203	4300	6503	SO:0001583	missense	5555					extracellular space	protein binding	g.chr12:11081919C>A		CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.47C>A	12.37:g.11081919C>A	ENSP00000379682:p.Ala16Asp					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.A16D|PRH2_uc001qzi.3_Missense_Mutation_p.A16D	p.A16D	NM_001110213	NP_001103683	P02810	PRPC_HUMAN			1	85	+			16					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	c.47C>A	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223864	0.09863	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	T;T	0.22743	1.94;1.94	1.07	0.133	0.14766	.	.	.	.	.	T	0.25606	0.0623	M	0.68952	2.095	0.09310	N	1	D;D	0.62365	0.991;0.983	P;B	0.48840	0.592;0.437	T	0.14839	-1.0458	9	0.87932	D	0	.	4.3476	0.11139	0.0:0.7545:0.0:0.2455	.	16;16	P02810;Q68D45	PRPC_HUMAN;.	D	16	ENSP00000371271:A16D;ENSP00000379682:A16D	ENSP00000256972:A16D	A	+	2	0	PRH2	10973186	0.003000	0.15002	0.007000	0.13788	0.009000	0.06853	-0.271000	0.08572	-0.025000	0.13918	-1.161000	0.01788	GCT		PASS	0.517	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213		11	73	11	73	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12278319	12278319	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:12278319C>T	ENST00000261349.4	-	21	4436	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R	LRP6_ENST00000543091.1_Missense_Mutation_p.G1409R|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1454					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G1454R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCACTGCTTCCCCCCATGATA	0.423																																						uc001rah.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(4360-4362)GGA>AGA		low density lipoprotein receptor-related protein							109.0	91.0	97.0					12																	12278319		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12278319C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4360G>A	12.37:g.12278319C>T	ENSP00000261349:p.Gly1454Arg					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1409R	p.G1454R	NM_002336	NP_002327	O75581	LRP6_HUMAN			21	4502	-		Prostate(47;0.0865)	1454			Cytoplasmic (Potential).		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4360G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358552	0.82243	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.43688	0.94;0.94	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000012	T	0.50514	0.1620	N	0.26042	0.785	0.80722	D	1	D;D	0.58620	0.979;0.983	P;P	0.61800	0.858;0.894	T	0.24440	-1.0160	10	0.22706	T	0.39	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1409;1454	F5H7J9;O75581	.;LRP6_HUMAN	R	1454;1409	ENSP00000261349:G1454R;ENSP00000442472:G1409R	ENSP00000261349:G1454R	G	-	1	0	LRP6	12169586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.673000	0.68109	2.861000	0.98227	0.655000	0.94253	GGA		PASS	0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			15	16	15	16	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12291458	12291458	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:12291458C>T	ENST00000261349.4	-	16	3484	c.3408G>A	c.(3406-3408)cgG>cgA	p.R1136R	LRP6_ENST00000543091.1_Silent_p.R1136R|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1136	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R1136R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTAATACTATCCGGTTAGCAC	0.363																																						uc001rah.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(3406-3408)CGG>CGA		low density lipoprotein receptor-related protein							110.0	107.0	108.0					12																	12291458		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12291458C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3408G>A	12.37:g.12291458C>T						BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.R1136R	p.R1136R	NM_002336	NP_002327	O75581	LRP6_HUMAN			16	3550	-		Prostate(47;0.0865)	1136			Extracellular (Potential).|LDL-receptor class B 19.|Beta-propeller 4.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.3408G>A	CCDS8647.1																																																																																				PASS	0.363	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			20	58	20	58	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49933230	49933230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:49933230C>T	ENST00000257981.6	+	1	291	c.31C>T	c.(31-33)Cag>Tag	p.Q11*		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	11					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Q11*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGGCGCCGCAGAACACCTT	0.761																																						uc001ruh.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(31-33)CAG>TAG		potassium voltage-gated channel, subfamily H							21.0	21.0	21.0					12																	49933230		2200	4298	6498	SO:0001587	stop_gained	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49933230C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.31C>T	12.37:g.49933230C>T	ENSP00000257981:p.Gln11*					KCNH3_uc010smj.1_5'UTR	p.Q11*	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			1	291	+			11			Cytoplasmic (Potential).		Q9UQ06	Nonsense_Mutation	SNP	ENST00000257981.6	37	c.31C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	39	7.545962	0.98348	.	.	ENSG00000135519	ENST00000257981	.	.	.	4.02	4.02	0.46733	.	0.000000	0.31484	N	0.007570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.0047	0.64456	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000257981:Q11X	Q	+	1	0	KCNH3	48219497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.367000	0.79558	1.954000	0.56735	0.561000	0.74099	CAG		PASS	0.761	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		5	23	5	23	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53448097	53448097	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:53448097G>C	ENST00000314250.6	+	7	684	c.394G>C	c.(394-396)Gac>Cac	p.D132H	RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.D142H|TENC1_ENST00000379902.3_Missense_Mutation_p.D8H|TENC1_ENST00000451358.1_Missense_Mutation_p.D132H|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.D132H|TENC1_ENST00000552570.1_Missense_Mutation_p.D132H|TENC1_ENST00000549700.1_Missense_Mutation_p.D132H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.D142H(1)|p.D132H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGGGACTTAGACCTCACCTA	0.701																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(394-396)GAC>CAC		tensin like C1 domain containing phosphatase							40.0	41.0	41.0					12																	53448097		2201	4299	6500	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53448097G>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.394G>C	12.37:g.53448097G>C	ENSP00000319684:p.Asp132His					uc001sbk.1_Intron|TENC1_uc001sbl.2_Missense_Mutation_p.D8H|TENC1_uc001sbm.2_Missense_Mutation_p.D142H|TENC1_uc001sbn.2_Missense_Mutation_p.D142H|TENC1_uc001sbo.1_Missense_Mutation_p.D132H	p.D132H	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			7	529	+			132			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.394G>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535282	0.96460	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	4.78	4.78	0.61160	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.972;0.997;0.988;0.996	D	0.98032	1.0377	10	0.87932	D	0	-3.1215	15.6754	0.77316	0.0:0.0:1.0:0.0	.	132;132;142;109	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	H	8;142;132;132;132;132;132;132	ENSP00000369232:D8H;ENSP00000319756:D142H;ENSP00000319684:D132H;ENSP00000393362:D132H;ENSP00000449363:D132H;ENSP00000447021:D132H;ENSP00000449361:D132H	ENSP00000319684:D132H	D	+	1	0	TENC1	51734364	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.545000	0.98095	2.379000	0.81126	0.561000	0.74099	GAC		PASS	0.701	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		11	18	11	18	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53899577	53899577	+	IGR	SNP	C	C	T	rs202227515		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:53899577C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Missense_Mutation_p.R296C|TARBP2_ENST00000552857.1_Missense_Mutation_p.P162L|TARBP2_ENST00000456234.2_Missense_Mutation_p.R275C|TARBP2_ENST00000394357.2_Missense_Mutation_p.R275C	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.R296C(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TGCCTGCTGCCGTGTCCTCAG	0.612																																						uc001sdo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(886-888)CGT>TGT		TAR RNA binding protein 2 isoform a		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	72.0	71.0		823,886,823	-1.8	0.7	12		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TARBP2	NM_004178.4,NM_134323.1,NM_134324.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	275/346,296/367,275/346	53899577	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899577C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899577C>T						TARBP2_uc001sdp.2_Missense_Mutation_p.R275C|TARBP2_uc001sdq.2_Missense_Mutation_p.R152C|TARBP2_uc001sdr.2_Missense_Mutation_p.R152C|TARBP2_uc001sds.2_Missense_Mutation_p.P253L|TARBP2_uc001sdt.2_Missense_Mutation_p.R275C|TARBP2_uc001sdu.2_Missense_Mutation_p.R152C|TARBP2_uc001sdv.2_RNA	p.R296C	NM_134323	NP_599150	Q15633	TRBP2_HUMAN			8	1374	+			296			Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.886C>T	CCDS8862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.00|13.00	2.105671|2.105671	0.37145|0.37145	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139546|ENSG00000139546	ENST00000552857;ENST00000550407|ENST00000266987;ENST00000456234;ENST00000394357	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	4.9|4.9	-1.84|-1.84	0.07809|0.07809	.|Double-stranded RNA-binding (1);	.|0.394630	.|0.29916	.|N	.|0.010869	T|T	0.65015|0.65015	0.2651|0.2651	N|N	0.19112|0.19112	0.55|0.55	0.27162|0.27162	N|N	0.961132|0.961132	.|B	.|0.28055	.|0.199	.|B	.|0.22386	.|0.039	T|T	0.56153|0.56153	-0.8026|-0.8026	6|10	0.87932|0.72032	D|D	0|0.01	-0.3099|-0.3099	6.9305|6.9305	0.24439|0.24439	0.6134:0.2435:0.1432:0.0|0.6134:0.2435:0.1432:0.0	.|.	.|296	.|Q15633	.|TRBP2_HUMAN	L|C	162;154|296;275;275	.|ENSP00000266987:R296C;ENSP00000416077:R275C;ENSP00000377885:R275C	ENSP00000447767:P154L|ENSP00000266987:R296C	P|R	+|+	2|1	0|0	TARBP2|TARBP2	52185844|52185844	0.940000|0.940000	0.31905|0.31905	0.675000|0.675000	0.29917|0.29917	0.835000|0.835000	0.47333|0.47333	0.621000|0.621000	0.24418|0.24418	-0.376000|-0.376000	0.07943|0.07943	-1.364000|-1.364000	0.01208|0.01208	CCG|CGT		PASS	0.612	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		6	41	6	41	---	---	---	---
TESPA1	9840	broad.mit.edu	37	12	55356381	55356381	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:55356381C>G	ENST00000449076.1	-	9	1433	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T	TESPA1_ENST00000316577.8_Missense_Mutation_p.R434T|TESPA1_ENST00000531122.1_Missense_Mutation_p.R296T|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000532804.1_Missense_Mutation_p.R296T|TESPA1_ENST00000524622.1_Missense_Mutation_p.R296T	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	434					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R434T(1)|p.R296T(1)									TCTGCTCTTTCTTTTCCAGAA	0.502																																						uc001sgn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1300-1302)AGA>ACA		hypothetical protein LOC9840							168.0	167.0	168.0					12																	55356381		1916	4125	6041	SO:0001583	missense	9840							g.chr12:55356381C>G	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1301G>C	12.37:g.55356381C>G	ENSP00000400892:p.Arg434Thr					KIAA0748_uc001sgl.3_Missense_Mutation_p.R296T|KIAA0748_uc001sgm.3_Missense_Mutation_p.R181T|KIAA0748_uc010spb.1_Missense_Mutation_p.R181T|KIAA0748_uc010spc.1_Missense_Mutation_p.R296T|KIAA0748_uc010spd.1_Missense_Mutation_p.R434T|KIAA0748_uc001sgo.3_RNA	p.R434T	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	1411	-			434					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1301G>C	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013162	0.54468	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.51071	0.72;0.72;0.74;0.74;0.72	4.43	1.61	0.23674	.	0.349225	0.25042	N	0.033599	T	0.31040	0.0784	L	0.34521	1.04	0.30125	N	0.80534	P	0.36535	0.557	B	0.36289	0.221	T	0.27839	-1.0062	10	0.72032	D	0.01	-5.0615	3.8907	0.09117	0.1898:0.6119:0.0:0.1983	.	434	A2RU30	K0748_HUMAN	T	296;34;296;434;434;296	ENSP00000435622:R296T;ENSP00000432030:R296T;ENSP00000400892:R434T;ENSP00000312679:R434T;ENSP00000433098:R296T	ENSP00000312679:R434T	R	-	2	0	KIAA0748	53642648	0.050000	0.20438	0.942000	0.38095	0.986000	0.74619	0.557000	0.23454	0.372000	0.24591	-0.169000	0.13324	AGA		PASS	0.502	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		35	106	35	106	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57857822	57857822	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:57857822G>A	ENST00000228682.2	+	3	232	c.141G>A	c.(139-141)atG>atA	p.M47I	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	47					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.M47I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTAACCTCATGTCCGGCCCCC	0.557																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(139-141)ATG>ATA		GLI family zinc finger 1 isoform 1							156.0	153.0	154.0					12																	57857822		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857822G>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.141G>A	12.37:g.57857822G>A	ENSP00000228682:p.Met47Ile					GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	p.M47I	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	219	+			47					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.141G>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777974	0.49786	.	.	ENSG00000111087	ENST00000228682;ENST00000544736;ENST00000528432	T	0.12361	2.69	4.28	4.28	0.50868	.	0.459884	0.20516	N	0.090783	T	0.12008	0.0292	L	0.33245	0.995	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.66056	D	0.02	.	12.4233	0.55532	0.0:0.0:1.0:0.0	.	47	P08151	GLI1_HUMAN	I	47;1;47	ENSP00000228682:M47I	ENSP00000228682:M47I	M	+	3	0	GLI1	56144089	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	3.643000	0.54374	2.380000	0.81148	0.555000	0.69702	ATG		PASS	0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		37	107	37	107	---	---	---	---
TSPAN31	6302	broad.mit.edu	37	12	58139669	58139669	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:58139669A>T	ENST00000257910.3	+	2	479	c.205A>T	c.(205-207)Aac>Tac	p.N69Y	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000547992.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	69					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.N69Y(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGGTGCTGTCAACCACCACCA	0.562																																						uc001spt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)AAC>TAC		sarcoma amplified sequence							75.0	68.0	71.0					12																	58139669		2203	4300	6503	SO:0001583	missense	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58139669A>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.205A>T	12.37:g.58139669A>T	ENSP00000257910:p.Asn69Tyr					TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_5'UTR	p.N69Y	NM_005981	NP_005972	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	359	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		69			Cytoplasmic (Potential).		O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.205A>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949781	0.53186	.	.	ENSG00000135452	ENST00000257910	T	0.79352	-1.26	4.57	3.34	0.38264	.	0.115539	0.56097	D	0.000024	T	0.63792	0.2541	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.65014	-0.6271	10	0.87932	D	0	-11.0427	10.2024	0.43092	0.8507:0.0:0.0:0.1493	.	69	Q12999	TSN31_HUMAN	Y	69	ENSP00000257910:N69Y	ENSP00000257910:N69Y	N	+	1	0	TSPAN31	56425936	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.916000	0.28651	2.053000	0.61076	0.377000	0.23210	AAC		PASS	0.562	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			10	41	10	41	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71286540	71286540	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:71286540C>A	ENST00000283228.2	-	2	728	c.276G>T	c.(274-276)ccG>ccT	p.P92P		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	92					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATTGAGAGACGGGTCATATG	0.433																																						uc001swi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(274-276)CCG>CCT		protein tyrosine phosphatase, receptor type, R							198.0	194.0	196.0					12																	71286540		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286540C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.276G>T	12.37:g.71286540C>A							p.P92P	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	692	-			92			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.276G>T	CCDS8998.1																																																																																				PASS	0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		30	83	30	83	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72338230	72338230	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:72338230C>G	ENST00000333850.3	+	3	553	c.412C>G	c.(412-414)Cca>Gca	p.P138A	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	138	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.P138A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTGAATCCTCCAGAGAACAT	0.423																																						uc009zrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(412-414)CCA>GCA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						138.0	136.0	137.0					12																	72338230		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72338230C>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.412C>G	12.37:g.72338230C>G	ENSP00000329093:p.Pro138Ala					TPH2_uc001swy.2_Missense_Mutation_p.P48A	p.P138A	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			3	553	+			138					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.412C>G	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144789	0.57044	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99422	-5.88	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.62266	1.93	0.53688	D	0.999979	B	0.09022	0.002	B	0.14023	0.01	D	0.96898	0.9658	10	0.45353	T	0.12	-17.3056	15.1271	0.72493	0.0:0.859:0.141:0.0	.	138	Q8IWU9	TPH2_HUMAN	A	138	ENSP00000329093:P138A	ENSP00000266669:P138A	P	+	1	0	TPH2	70624497	0.998000	0.40836	0.158000	0.22627	0.812000	0.45895	5.656000	0.67988	2.718000	0.92993	0.650000	0.86243	CCA		PASS	0.423	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		25	83	25	83	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73015517	73015517	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:73015517C>A	ENST00000261180.4	+	15	2622	c.2526C>A	c.(2524-2526)tcC>tcA	p.S842S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	842					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S842S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTGGATTTCCAGCAACAGGA	0.398																																						uc001sxa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2524-2526)TCC>TCA		thyrotropin-releasing hormone degrading enzyme							89.0	81.0	84.0					12																	73015517		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73015517C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2526C>A	12.37:g.73015517C>A							p.S842S	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			15	2556	+			842			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.2526C>A	CCDS9004.1																																																																																				PASS	0.398	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		9	40	9	40	---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76767175	76767175	+	Silent	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:76767175T>A	ENST00000261183.3	-	18	2345	c.1866A>T	c.(1864-1866)tcA>tcT	p.S622S	OSBPL8_ENST00000393250.4_Silent_p.S580S|OSBPL8_ENST00000393249.2_Silent_p.S580S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	622					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.S622S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TAAGTTTCCCTGATATTTGAT	0.308																																						uc001sye.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1864-1866)TCA>TCT		oxysterol-binding protein-like protein 8 isoform							98.0	97.0	97.0					12																	76767175		2203	4295	6498	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76767175T>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1866A>T	12.37:g.76767175T>A						OSBPL8_uc001syf.1_Silent_p.S580S|OSBPL8_uc001syg.1_Silent_p.S580S|OSBPL8_uc001syh.1_Silent_p.S597S	p.S622S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			18	2346	-			622					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.1866A>T	CCDS31862.1																																																																																				PASS	0.308	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		20	54	20	54	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77417881	77417881	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:77417881C>T	ENST00000322886.7	-	13	2885	c.2650G>A	c.(2650-2652)Gtc>Atc	p.V884I	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	884					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|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)	p.V884I(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTCTTCAGGACAGGGTCTCCA	0.542																																						uc001sym.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(2650-2652)GTC>ATC		E2F transcription factor 7							114.0	110.0	112.0					12																	77417881		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77417881C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2650G>A	12.37:g.77417881C>T	ENSP00000323246:p.Val884Ile					E2F7_uc009zse.2_3'UTR	p.V884I	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			13	2886	-			884					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2650G>A	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690273	0.29962	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.16073	2.37	6.17	4.34	0.51931	.	0.612689	0.16799	N	0.199057	T	0.11410	0.0278	N	0.19112	0.55	0.22213	N	0.999289	B	0.11235	0.004	B	0.08055	0.003	T	0.21143	-1.0254	10	0.45353	T	0.12	-2.7873	9.1927	0.37209	0.1451:0.7825:0.0:0.0724	.	884	Q96AV8	E2F7_HUMAN	I	884;355	ENSP00000323246:V884I	ENSP00000323246:V884I	V	-	1	0	E2F7	75942012	0.000000	0.05858	0.009000	0.14445	0.774000	0.43823	-0.045000	0.12003	0.923000	0.37045	0.655000	0.94253	GTC		PASS	0.542	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		14	49	14	49	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115114128	115114128	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:115114128C>T	ENST00000257566.3	-	6	1478	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	TBX3_ENST00000349155.2_Silent_p.S343S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	363					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S363S(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTTGAGGTTCGATGTCCCTA	0.547																																						uc001tvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3	GRCh37	CP995121	TBX3	X		c.(1087-1089)TCG>TCA		T-box 3 protein isoform 2							109.0	105.0	106.0					12																	115114128		2203	4300	6503	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114128C>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1089G>A	12.37:g.115114128C>T						TBX3_uc001tvu.1_Silent_p.S343S	p.S363S	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	2053	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		363					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.1089G>A	CCDS9176.1																																																																																				PASS	0.547	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		16	49	16	49	---	---	---	---
TMED2	10959	broad.mit.edu	37	12	124074954	124074954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:124074954G>T	ENST00000262225.3	+	3	545	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	TMED2_ENST00000509052.2_Nonsense_Mutation_p.E62*	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	147	Interaction with F2RL1.|Required for TMED10 and TMED2 cis-Golgi network localization.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.E147*(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		TGTAAAGCACGAACAGGAATA	0.433																																						uc001ufg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(439-441)GAA>TAA		coated vesicle membrane protein precursor							123.0	117.0	119.0					12																	124074954		2203	4300	6503	SO:0001587	stop_gained	10959				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding	g.chr12:124074954G>T	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.439G>T	12.37:g.124074954G>T	ENSP00000262225:p.Glu147*						p.E147*	NM_006815	NP_006806	Q15363	TMED2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)	3	547	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		147			Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000262225.3	37	c.439G>T	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	G	47	13.452823	0.99743	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000432022;ENST00000541504;ENST00000509052	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.0073	19.7532	0.96277	0.0:0.0:1.0:0.0	.	.	.	.	X	147;154;115;97;62	.	ENSP00000262225:E147X	E	+	1	0	TMED2	122640907	1.000000	0.71417	0.935000	0.37517	0.990000	0.78478	9.851000	0.99511	2.738000	0.93877	0.555000	0.69702	GAA		PASS	0.433	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		4	53	4	53	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124915226	124915226	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr12:124915226G>T	ENST00000405201.1	-	9	990	c.990C>A	c.(988-990)cgC>cgA	p.R330R	NCOR2_ENST00000397355.1_Silent_p.R330R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Silent_p.R330R|NCOR2_ENST00000429285.2_Silent_p.R330R|NCOR2_ENST00000356219.3_Silent_p.R330R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	330					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.R330R(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTAGTACTCGCGCACCTTGC	0.652																																						uc010tba.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(988-990)CGC>CGA		nuclear receptor co-repressor 2 isoform 2							97.0	106.0	103.0					12																	124915226		2063	4216	6279	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124915226G>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.990C>A	12.37:g.124915226G>T						NCOR2_uc010tay.1_Silent_p.R330R|NCOR2_uc010taz.1_Silent_p.R330R|NCOR2_uc010tbb.1_Silent_p.R330R|NCOR2_uc010tbc.1_Silent_p.R330R|NCOR2_uc001ugj.1_Silent_p.R330R|NCOR2_uc001ugk.1_Silent_p.R330R	p.R330R	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	9	1107	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		330					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.990C>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535838	0.27475	.	.	ENSG00000196498	ENST00000542927	.	.	.	3.75	0.468	0.16732	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	-31.3597	2.7951	0.05399	0.1045:0.4497:0.2136:0.2323	.	.	.	.	E	253	.	.	A	-	2	0	NCOR2	123481179	0.027000	0.19231	1.000000	0.80357	0.997000	0.91878	-0.971000	0.03806	0.344000	0.23847	0.462000	0.41574	GCG		PASS	0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		14	64	14	64	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52511767	52511767	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr13:52511767C>A	ENST00000242839.4	-	18	3904	c.3748G>T	c.(3748-3750)Gcc>Tcc	p.A1250S	ATP7B_ENST00000418097.2_Missense_Mutation_p.A1185S|ATP7B_ENST00000400366.3_Missense_Mutation_p.A1139S|ATP7B_ENST00000448424.2_Missense_Mutation_p.A1172S|ATP7B_ENST00000344297.5_Missense_Mutation_p.A1043S|ATP7B_ENST00000400370.3_Missense_Mutation_p.A820S|ATP7B_ENST00000417240.2_Missense_Mutation_p.A461S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1250					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.A1250S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGGACCTTGGCCACCTTGTGC	0.542									Wilson disease																													uc001vfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3748-3750)GCC>TCC		ATPase, Cu++ transporting, beta polypeptide							91.0	95.0	93.0					13																	52511767		2028	4183	6211	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52511767C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3748G>T	13.37:g.52511767C>A	ENSP00000242839:p.Ala1250Ser					ATP7B_uc010adv.2_Missense_Mutation_p.A820S|ATP7B_uc001vfx.2_Missense_Mutation_p.A1043S|ATP7B_uc001vfy.2_Missense_Mutation_p.A1139S|ATP7B_uc010tgt.1_Missense_Mutation_p.A1185S|ATP7B_uc010tgu.1_Missense_Mutation_p.A1202S|ATP7B_uc010tgv.1_Missense_Mutation_p.A1172S|ATP7B_uc001vfv.2_Missense_Mutation_p.A522S|ATP7B_uc010tgs.1_Missense_Mutation_p.A461S	p.A1250S	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	18	3905	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1250			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3748G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121517	0.56613	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.73	4.73	0.59995	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96941	0.9001	L	0.41124	1.26	0.80722	D	1	D;P;D;P;D;P;D;D	0.89917	0.998;0.887;1.0;0.948;1.0;0.918;1.0;0.993	D;P;D;P;D;P;D;D	0.79784	0.993;0.823;0.975;0.576;0.975;0.882;0.975;0.973	D	0.97101	0.9797	10	0.51188	T	0.08	-30.8915	18.2449	0.89982	0.0:1.0:0.0:0.0	.	1172;1202;1185;461;820;1139;1043;1250	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	S	1250;1139;1043;461;1172;820;1185	ENSP00000242839:A1250S;ENSP00000383217:A1139S;ENSP00000342559:A1043S;ENSP00000390360:A461S;ENSP00000416738:A1172S;ENSP00000383221:A820S;ENSP00000393343:A1185S	ENSP00000242839:A1250S	A	-	1	0	ATP7B	51409768	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.757000	0.68766	2.606000	0.88127	0.591000	0.81541	GCC		PASS	0.542	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		5	116	5	116	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77844568	77844568	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr13:77844568T>A	ENST00000544440.2	-	6	954	c.937A>T	c.(937-939)Atg>Ttg	p.M313L	MYCBP2_ENST00000407578.2_Missense_Mutation_p.M351L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M313L|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.M313L(2)|p.M351L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACTTGTGCATTAAAGCTGCT	0.338																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(937-939)ATG>TTG		MYC binding protein 2							91.0	90.0	90.0					13																	77844568		2203	4299	6502	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844568T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.937A>T	13.37:g.77844568T>A	ENSP00000444596:p.Met313Leu					MYCBP2_uc010aev.2_5'UTR	p.M313L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1028	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	313						Missense_Mutation	SNP	ENST00000544440.2	37	c.937A>T		.	.	.	.	.	.	.	.	.	.	T	16.44	3.123864	0.56613	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33216	1.42;1.42;1.42	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	L	0.36672	1.1	0.50813	D	0.999894	B	0.18741	0.03	B	0.18263	0.021	T	0.03403	-1.1040	10	0.29301	T	0.29	.	15.3307	0.74208	0.0:0.0:0.0:1.0	.	313	O75592	MYCB2_HUMAN	L	313;351;313	ENSP00000349892:M313L;ENSP00000384288:M351L;ENSP00000444596:M313L	ENSP00000349892:M313L	M	-	1	0	MYCBP2	76742569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.266000	0.72540	2.092000	0.63282	0.460000	0.39030	ATG		PASS	0.338	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		15	30	15	30	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103279418	103279418	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr13:103279418G>A	ENST00000376065.4	+	7	877	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	TPP2_ENST00000376052.3_Missense_Mutation_p.E281K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	281	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.E281K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAAGAACCTGAACGGAATGG	0.463																																						uc001vpi.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(841-843)GAA>AAA		tripeptidyl peptidase II							140.0	135.0	136.0					13																	103279418		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103279418G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.841G>A	13.37:g.103279418G>A	ENSP00000365233:p.Glu281Lys						p.E281K	NM_003291	NP_003282	P29144	TPP2_HUMAN			7	944	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		281					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.841G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716172	0.89205	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.46063	0.88;0.88	5.58	5.58	0.84498	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	N	0.25144	0.715	0.80722	D	1	B	0.18968	0.032	B	0.23419	0.046	T	0.09574	-1.0668	10	0.48119	T	0.1	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	281	P29144	TPP2_HUMAN	K	281	ENSP00000365233:E281K;ENSP00000365220:E281K	ENSP00000365220:E281K	E	+	1	0	TPP2	102077419	1.000000	0.71417	0.964000	0.40570	0.978000	0.69477	7.538000	0.82048	2.774000	0.95407	0.655000	0.94253	GAA		PASS	0.463	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			29	79	29	79	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20857439	20857439	+	Missense_Mutation	SNP	G	G	T	rs145088591		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:20857439G>T	ENST00000262715.5	-	17	2523	c.2483C>A	c.(2482-2484)cCc>cAc	p.P828H	TEP1_ENST00000556935.1_Missense_Mutation_p.P720H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	828					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.P828H(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACATCATTGGGATTCAAATC	0.418																																						uc001vxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2482-2484)CCC>CAC		telomerase-associated protein 1							168.0	142.0	151.0					14																	20857439		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20857439G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2483C>A	14.37:g.20857439G>T	ENSP00000262715:p.Pro828His					TEP1_uc010ahk.2_Missense_Mutation_p.P178H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.P720H	p.P828H	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	17	2523	-	all_cancers(95;0.00123)	all_lung(585;0.235)	828					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2483C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909303	0.52439	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.51574	0.72;0.7	5.14	4.23	0.50019	.	0.425334	0.25540	N	0.029980	T	0.64360	0.2591	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.67382	0.951;0.943;0.894	T	0.67150	-0.5743	10	0.72032	D	0.01	-6.0152	11.5097	0.50486	0.0:0.1818:0.8182:0.0	.	720;178;828	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	828;828;720	ENSP00000262715:P828H;ENSP00000452574:P720H	ENSP00000262715:P828H	P	-	2	0	TEP1	19927279	1.000000	0.71417	0.973000	0.42090	0.694000	0.40290	2.076000	0.41548	1.126000	0.42016	0.561000	0.74099	CCC		PASS	0.418	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	70	5	70	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23346451	23346451	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:23346451G>A	ENST00000359591.4	+	7	2548	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	619	Pro-rich.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K619K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGCCCATCAAGGCTCCCCTCC	0.657																																						uc001whd.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1855-1857)AAG>AAA		low density lipoprotein receptor-related protein							43.0	50.0	48.0					14																	23346451		2203	4294	6497	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346451G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1857G>A	14.37:g.23346451G>A						LRP10_uc001whe.2_Intron	p.K619K	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2410	+	all_cancers(95;4.69e-05)		619			Pro-rich.|Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.1857G>A	CCDS9578.1																																																																																				PASS	0.657	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			9	29	9	29	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23901920	23901920	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:23901920C>T	ENST00000355349.3	-	5	592	c.430G>A	c.(430-432)Ggc>Agc	p.G144S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	144	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.G144S(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCTTCTTGCCCCGGTAGGCA	0.592																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(430-432)GGC>AGC		myosin, heavy chain 7, cardiac muscle, beta							81.0	78.0	79.0					14																	23901920		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901920C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.430G>A	14.37:g.23901920C>T	ENSP00000347507:p.Gly144Ser						p.G144S	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	5	536	-	all_cancers(95;2.54e-05)		144			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.430G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	31	5.104775	0.94245	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.91740	-2.9	3.61	3.61	0.41365	Myosin head, motor domain (2);	.	.	.	.	D	0.96531	0.8868	M	0.91196	3.185	0.80722	D	1	P	0.41569	0.755	P	0.60345	0.873	D	0.97799	1.0243	9	0.87932	D	0	.	15.807	0.78520	0.0:1.0:0.0:0.0	.	144	P12883	MYH7_HUMAN	S	144	ENSP00000347507:G144S	ENSP00000347507:G144S	G	-	1	0	MYH7	22971760	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.487000	0.81328	2.015000	0.59207	0.455000	0.32223	GGC		PASS	0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		14	57	14	57	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24788418	24788418	+	Splice_Site	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:24788418C>G	ENST00000310677.4	-	24	2955	c.2842G>C	c.(2842-2844)Gat>Cat	p.D948H	ADCY4_ENST00000554068.2_Splice_Site_p.D948H|ADCY4_ENST00000418030.2_Splice_Site_p.D948H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	948					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.D948H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGTTCAGCATCCTGGCAATGG	0.552																																						uc001wov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(2842-2844)GAT>CAT		adenylate cyclase 4							88.0	84.0	85.0					14																	24788418		2203	4300	6503	SO:0001630	splice_region_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788418C>G	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2842-1G>C	14.37:g.24788418C>G						ADCY4_uc001wow.2_Missense_Mutation_p.D948H|ADCY4_uc010toh.1_Missense_Mutation_p.D634H|ADCY4_uc001wox.2_Missense_Mutation_p.D948H|ADCY4_uc001woy.2_Missense_Mutation_p.D948H	p.D948H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	23	2848	-			948			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2842G>C	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037503	0.75617	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.30448	1.53;1.53;1.53	4.79	4.79	0.61399	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.47093	D	0.000258	T	0.50446	0.1616	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	D	0.63488	0.915	T	0.50092	-0.8868	10	0.54805	T	0.06	.	15.3891	0.74729	0.0:1.0:0.0:0.0	.	948	Q8NFM4	ADCY4_HUMAN	H	948	ENSP00000312126:D948H;ENSP00000452250:D948H;ENSP00000393177:D948H	ENSP00000312126:D948H	D	-	1	0	ADCY4	23858258	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.493000	0.60341	2.478000	0.83669	0.655000	0.94253	GAT		PASS	0.552	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		Missense_Mutation	22	55	22	55	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30105516	30105516	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:30105516C>T	ENST00000331968.5	-	7	1399	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Silent_p.E398E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	390					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E390E(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTGGCGTCCTCGTGGTCTG	0.502																																						uc001wqh.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1168-1170)GAG>GAA		protein kinase D1							316.0	250.0	272.0					14																	30105516		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105516C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1170G>A	14.37:g.30105516C>T							p.E390E	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1351	-	Hepatocellular(127;0.0604)		390					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1170G>A	CCDS9637.1																																																																																				PASS	0.502	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		36	149	36	149	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356690	42356690	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:42356690C>G	ENST00000298119.4	+	3	2051	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	LRFN5_ENST00000554171.1_Missense_Mutation_p.L288V|LRFN5_ENST00000554120.1_Missense_Mutation_p.L288V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	288	Ig-like.					integral component of membrane (GO:0016021)		p.L288V(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)		TGAGCCTCCTCTCATTACTCG	0.493										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(862-864)CTC>GTC		leucine rich repeat and fibronectin type III							126.0	121.0	123.0					14																	42356690		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356690C>G	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.862C>G	14.37:g.42356690C>G	ENSP00000298119:p.Leu288Val	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.L288V	p.L288V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2060	+			288			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.862C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935381	0.52866	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.64438	-0.1;-0.1;-0.1	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000103	T	0.52158	0.1717	N	0.03891	-0.335	0.80722	D	1	B;P	0.34934	0.168;0.476	B;P	0.47786	0.124;0.557	T	0.56511	-0.7967	10	0.30078	T	0.28	.	17.0338	0.86468	0.0:1.0:0.0:0.0	.	288;288	G3V364;Q96NI6	.;LRFN5_HUMAN	V	288	ENSP00000298119:L288V;ENSP00000451897:L288V;ENSP00000451067:L288V	ENSP00000298119:L288V	L	+	1	0	LRFN5	41426440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.997000	0.70646	2.680000	0.91292	0.563000	0.77884	CTC		PASS	0.493	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		15	64	15	64	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52907400	52907400	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:52907400G>T	ENST00000281741.4	-	19	2256	c.1885C>A	c.(1885-1887)Cag>Aag	p.Q629K	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	629					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.Q629K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AATGGTTTCTGAAGTCTGAAA	0.343																																						uc001wzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1885-1887)CAG>AAG		thioredoxin domain containing 16 isoform 1							67.0	63.0	64.0					14																	52907400		2203	4299	6502	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52907400G>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1885C>A	14.37:g.52907400G>T	ENSP00000281741:p.Gln629Lys					TXNDC16_uc010tqu.1_Missense_Mutation_p.Q624K|TXNDC16_uc010aoe.2_RNA	p.Q629K	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN			19	2334	-	Breast(41;0.0716)		629					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1885C>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	9.338	1.062182	0.19987	.	.	ENSG00000087301	ENST00000281741	T	0.27890	1.64	5.38	2.4	0.29515	.	0.278233	0.35207	N	0.003372	T	0.24586	0.0596	L	0.50919	1.6	0.26100	N	0.980833	B;B	0.26258	0.145;0.084	B;B	0.26416	0.069;0.042	T	0.28235	-1.0050	10	0.06099	T	0.92	-57.2166	13.9522	0.64126	0.0:0.0:0.3913:0.6086	.	624;629	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	629	ENSP00000281741:Q629K	ENSP00000281741:Q629K	Q	-	1	0	TXNDC16	51977150	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	0.645000	0.24782	0.621000	0.30232	-0.182000	0.12963	CAG		PASS	0.343	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		9	23	9	23	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60581998	60581998	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:60581998C>T	ENST00000406854.1	+	4	1730	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	PCNXL4_ENST00000404681.2_Silent_p.G392G|PCNXL4_ENST00000317623.4_Silent_p.G158G|PCNXL4_ENST00000406949.1_Silent_p.G158G			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	392						integral component of membrane (GO:0016021)		p.G392G(1)|p.G158G(1)									CTATTGTGGGCTATGGTTTGA	0.353																																						uc001xer.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(472-474)GGC>GGT		hepatitis C virus F protein-binding protein 2							140.0	135.0	136.0					14																	60581998		1825	4085	5910	SO:0001819	synonymous_variant	64430					integral to membrane		g.chr14:60581998C>T	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1176C>T	14.37:g.60581998C>T						C14orf135_uc001xeq.2_Silent_p.G158G	p.G158G	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	3	996	+		Myeloproliferative disorder(585;0.163)	392			Helical; (Potential).		A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.474C>T																																																																																					PASS	0.353	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		23	121	23	121	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70991102	70991102	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:70991102G>A	ENST00000256389.3	-	2	767	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	125					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L175F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CAGGTACTAAGGGCAACCAAG	0.483																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)CTT>TTT		ADAM metallopeptidase domain 20 preproprotein							122.0	100.0	107.0					14																	70991102		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991102G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.523C>T	14.37:g.70991102G>A	ENSP00000256389:p.Leu175Phe						p.L175F	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	768	-			125					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.523C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671282	0.47781	.	.	ENSG00000134007	ENST00000256389	T	0.07908	3.15	4.14	2.26	0.28386	Peptidase M12B, propeptide (1);	0.000000	0.35124	N	0.003422	T	0.17238	0.0414	M	0.81614	2.55	0.26243	N	0.978838	P	0.42757	0.789	P	0.51016	0.656	T	0.03840	-1.0999	10	0.46703	T	0.11	.	5.0729	0.14615	0.1694:0.0:0.6639:0.1667	.	125	O43506	ADA20_HUMAN	F	175	ENSP00000256389:L175F	ENSP00000256389:L175F	L	-	1	0	ADAM20	70060855	0.894000	0.30519	0.710000	0.30468	0.949000	0.60115	1.232000	0.32636	0.479000	0.27511	0.650000	0.86243	CTT		PASS	0.483	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			10	46	10	46	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75329373	75329373	+	Missense_Mutation	SNP	G	G	A	rs367763340		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:75329373G>A	ENST00000445876.1	-	1	1164	c.1165C>T	c.(1165-1167)Cca>Tca	p.P389S	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.P389S			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	389					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P389S(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGACCAATGGTTGCGGCTTA	0.572																																						uc001xqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)CCA>TCA		prospero homeobox 2							78.0	84.0	82.0					14																	75329373		2064	4188	6252	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329373G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1165C>T	14.37:g.75329373G>A	ENSP00000405932:p.Pro389Ser					PROX2_uc001xqq.1_Intron	p.P389S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	1165	-			389					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.1165C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	4.461	0.085311	0.08583	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.40476	1.03;1.03	4.22	0.197	0.15164	.	0.454215	0.19065	N	0.123669	T	0.22820	0.0551	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.28332	-1.0047	10	0.06365	T	0.9	.	8.504	0.33175	0.4809:0.0:0.5191:0.0	.	389	G3V3G0	.	S	389	ENSP00000451223:P389S;ENSP00000405932:P389S	ENSP00000374315:P389S	P	-	1	0	PROX2	74399126	0.641000	0.27251	0.001000	0.08648	0.001000	0.01503	1.150000	0.31639	0.260000	0.21731	-0.226000	0.12346	CCA		PASS	0.572	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				12	48	12	48	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88707111	88707111	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:88707111G>A	ENST00000340700.5	-	3	892	c.441C>T	c.(439-441)aaC>aaT	p.N147N	KCNK10_ENST00000312350.5_Silent_p.N152N|KCNK10_ENST00000319231.5_Silent_p.N152N	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	147					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.N152N(2)|p.N147N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCTGCTGTTGTTGGAAGAGT	0.448																																						uc001xwo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(439-441)AAC>AAT		potassium channel, subfamily K, member 10							112.0	101.0	105.0					14																	88707111		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88707111G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.441C>T	14.37:g.88707111G>A						KCNK10_uc001xwm.2_Silent_p.N152N|KCNK10_uc001xwn.2_Silent_p.N152N	p.N147N	NM_021161	NP_066984	P57789	KCNKA_HUMAN			3	898	-			147					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.441C>T	CCDS9880.1																																																																																				PASS	0.448	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		23	125	23	125	---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92600506	92600506	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:92600506C>G	ENST00000298875.4	+	4	586	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	101					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.L101V(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CATGTATGATCTTTATCAGGT	0.363																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(301-303)CTT>GTT		cleavage and polyadenylation specific factor 2							165.0	145.0	152.0					14																	92600506		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92600506C>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.301C>G	14.37:g.92600506C>G	ENSP00000298875:p.Leu101Val						p.L101V	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	4	538	+		all_cancers(154;0.0766)	101					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.301C>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127680	0.77549	.	.	ENSG00000165934	ENST00000298875	T	0.79554	-1.28	5.54	5.54	0.83059	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.67700	2.07	0.80722	D	1	P	0.47910	0.902	P	0.46419	0.516	T	0.80830	-0.1207	10	0.38643	T	0.18	.	12.7829	0.57487	0.0:0.9252:0.0:0.0747	.	101	Q9P2I0	CPSF2_HUMAN	V	101	ENSP00000298875:L101V	ENSP00000298875:L101V	L	+	1	0	CPSF2	91670259	1.000000	0.71417	0.945000	0.38365	0.993000	0.82548	4.876000	0.63079	2.601000	0.87937	0.591000	0.81541	CTT		PASS	0.363	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			16	50	16	50	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101348272	101348272	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:101348272C>T	ENST00000534062.1	-	1	2912	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	952					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.E952K(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCTAGATCCTCTGTGTTGAGA	0.527																																						uc010txj.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2854-2856)GAG>AAG		retrotransposon-like 1							91.0	91.0	91.0					14																	101348272		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101348272C>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2854G>A	14.37:g.101348272C>T	ENSP00000435342:p.Glu952Lys					MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.E952K	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	2913	-			952					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2854G>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595880	0.46318	.	.	ENSG00000254656	ENST00000534062	T	0.38560	1.13	3.39	3.39	0.38822	.	0.000000	0.34932	N	0.003573	T	0.27349	0.0671	L	0.27053	0.805	0.30068	N	0.810336	B	0.28324	0.207	B	0.33196	0.159	T	0.15607	-1.0431	10	0.02654	T	1	.	13.104	0.59237	0.0:1.0:0.0:0.0	.	952	E9PKS8	.	K	952	ENSP00000435342:E952K	ENSP00000435342:E952K	E	-	1	0	RTL1	100418025	0.941000	0.31946	0.960000	0.40013	0.968000	0.65278	1.472000	0.35376	2.210000	0.71456	0.555000	0.69702	GAG		PASS	0.527	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		26	91	26	91	---	---	---	---
MIR412	574433	broad.mit.edu	37	14	101533061	101533061	+	RNA	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:101533061C>A	ENST00000362142.2	+	0	91				MIR409_ENST00000362237.1_RNA|MIR541_ENST00000401360.1_RNA|MIR410_ENST00000362222.2_RNA|MIR656_ENST00000385224.1_RNA|MIR369_ENST00000362155.3_RNA	NR_030155.1				microRNA 412																		TCAGTGGTACCTGAAATAGGT	0.532																																						hsa-mir-656|MI0003678																			0					0															116.0	114.0	115.0					14																	101533061		1568	3582	5150			724026							g.chr14:101533061C>A			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101533061C>A																+									RNA	SNP	ENST00000362142.2	37	c.1C>A																																																																																					PASS	0.532	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		5	43	5	43	---	---	---	---
IGHV3-72	28410	broad.mit.edu	37	14	107198985	107198985	+	RNA	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr14:107198985G>A	ENST00000433072.2	-	0	383									immunoglobulin heavy variable 3-72																		TTCATTTGCAGATACAGTGAG	0.498																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							153.0	150.0	151.0					14																	107198985		1943	4147	6090			8755							g.chr14:107198985G>A	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107198985G>A														21		-									RNA	SNP	ENST00000433072.2	37	c.1713C>T																																																																																					PASS	0.498	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		38	117	38	117	---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43621302	43621302	+	Silent	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr15:43621302C>G	ENST00000305641.5	-	1	1501	c.1386G>C	c.(1384-1386)ctG>ctC	p.L462L	ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_Silent_p.L41L	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	462					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.L462L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		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;8.1e-07)	L-Leucine(DB00149)	TTGTCACTTTCAGGTCCTCAG	0.463																																						uc001zrg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1384-1386)CTG>CTC		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						88.0	87.0	87.0					15																	43621302		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621302C>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1386G>C	15.37:g.43621302C>G						LCMT2_uc010udn.1_Silent_p.L41L|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.L462L	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1590	-		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)	462					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1386G>C	CCDS10094.1																																																																																				PASS	0.463	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		19	52	19	52	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48787692	48787692	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr15:48787692A>G	ENST00000316623.5	-	21	2968	c.2513T>C	c.(2512-2514)tTg>tCg	p.L838S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	838	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L838S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGTTGGATCCAAAGTACTTTC	0.348																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3	GRCh37	CD075391	FBN1	D		c.(2512-2514)TTG>TCG		fibrillin 1 precursor							173.0	183.0	179.0					15																	48787692		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787692A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2513T>C	15.37:g.48787692A>G	ENSP00000325527:p.Leu838Ser						p.L838S	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2841	-		all_lung(180;0.00279)	838			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2513T>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680980	0.88542	.	.	ENSG00000166147	ENST00000316623	D	0.88896	-2.44	5.87	5.87	0.94306	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.94335	0.7565	10	0.56958	D	0.05	.	15.0825	0.72125	1.0:0.0:0.0:0.0	.	838	P35555	FBN1_HUMAN	S	838	ENSP00000325527:L838S	ENSP00000325527:L838S	L	-	2	0	FBN1	46574984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.169000	0.94788	2.241000	0.73720	0.454000	0.30748	TTG		PASS	0.348	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			10	153	10	153	---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr15:68582855C>T	ENST00000306917.4	+	2	1774	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	387					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGATCTTCTTCGATTTGCTCA	0.398																																						uc002arg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1159-1161)CGA>TGA		fem-1 homolog b							79.0	76.0	77.0					15																	68582855		2200	4298	6498	SO:0001587	stop_gained	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582855C>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1159C>T	15.37:g.68582855C>T	ENSP00000307298:p.Arg387*					FEM1B_uc002arh.2_Nonsense_Mutation_p.R307*	p.R387*	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			2	1774	+			387					O43146	Nonsense_Mutation	SNP	ENST00000306917.4	37	c.1159C>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	42	9.173212	0.99089	.	.	ENSG00000169018	ENST00000306917	.	.	.	5.82	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-59.0726	13.4512	0.61172	0.4132:0.5868:0.0:0.0	.	.	.	.	X	387	.	ENSP00000307298:R387X	R	+	1	2	FEM1B	66369909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.261000	0.32980	1.423000	0.47198	0.484000	0.47621	CGA		PASS	0.398	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			7	38	7	38	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79750082	79750082	+	Silent	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr15:79750082T>C	ENST00000305428.3	+	2	1668	c.1593T>C	c.(1591-1593)agT>agC	p.S531S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	531						integral component of membrane (GO:0016021)		p.S531S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAGCATCAGTGGCTCCACGG	0.493																																						uc002bew.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1591-1593)AGT>AGC		hypothetical protein LOC23251							95.0	77.0	83.0					15																	79750082		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79750082T>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1593T>C	15.37:g.79750082T>C						KIAA1024_uc010unk.1_Silent_p.S531S	p.S531S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1668	+			531					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1593T>C	CCDS32306.1																																																																																				PASS	0.493	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	20	14	20	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1260849	1260849	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:1260849G>T	ENST00000348261.5	+	21	4349	c.4101G>T	c.(4099-4101)ctG>ctT	p.L1367L	CACNA1H_ENST00000565831.1_Silent_p.L1367L|CACNA1H_ENST00000358590.4_Silent_p.L1367L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1367					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.L1367L(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGAACCTGCTGGATGGGCTGC	0.677																																						uc002cks.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(4099-4101)CTG>CTT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						67.0	77.0	74.0					16																	1260849		2193	4284	6477	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260849G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4101G>T	16.37:g.1260849G>T						CACNA1H_uc002ckt.2_Silent_p.L1367L|CACNA1H_uc002cku.2_Silent_p.L73L|CACNA1H_uc010brj.2_Silent_p.L73L|CACNA1H_uc002ckv.2_Silent_p.L73L	p.L1367L	NM_021098	NP_066921	O95180	CAC1H_HUMAN			21	4349	+		Hepatocellular(780;0.00369)	1367			Helical; Name=S3 of repeat III; (Potential).|III.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.4101G>T	CCDS45375.1																																																																																				PASS	0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	42	4	42	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1397706	1397706	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:1397706C>T	ENST00000324385.5	+	31	3172	c.3014C>T	c.(3013-3015)aCc>aTc	p.T1005I	BAIAP3_ENST00000397489.1_Missense_Mutation_p.T987I|BAIAP3_ENST00000568887.1_Missense_Mutation_p.T942I|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T987I|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T970I|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T934I|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T947I	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1005					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.T1005I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCGCAGAGGACCCTGGAGCAG	0.677																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3013-3015)ACC>ATC		BAI1-associated protein 3							29.0	34.0	32.0					16																	1397706		2199	4298	6497	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397706C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3014C>T	16.37:g.1397706C>T	ENSP00000324510:p.Thr1005Ile					BAIAP3_uc002clj.2_Missense_Mutation_p.T987I|BAIAP3_uc010uuz.1_Missense_Mutation_p.T970I|BAIAP3_uc010uva.1_Missense_Mutation_p.T942I|BAIAP3_uc010uvc.1_Missense_Mutation_p.T934I	p.T1005I	NM_003933	NP_003924	O94812	BAIP3_HUMAN			31	3014	+		Hepatocellular(780;0.0893)	1005					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.3014C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	9.417	1.082106	0.20309	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71698	-0.58;-0.58;-0.59;-0.58;-0.57	5.15	4.2	0.49525	.	0.234786	0.37012	N	0.002290	T	0.51295	0.1666	N	0.12182	0.205	0.09310	N	0.999999	B;B;B;B	0.15141	0.011;0.005;0.012;0.012	B;B;B;B	0.15484	0.013;0.008;0.008;0.008	T	0.42292	-0.9460	10	0.37606	T	0.19	-15.4625	11.203	0.48751	0.0:0.9096:0.0:0.0904	.	934;947;1005;987	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	I	970;987;1005;987;934	ENSP00000407242:T970I;ENSP00000380625:T987I;ENSP00000324510:T1005I;ENSP00000380626:T987I;ENSP00000409533:T934I	ENSP00000324510:T1005I	T	+	2	0	BAIAP3	1337707	0.067000	0.21026	0.005000	0.12908	0.263000	0.26337	2.903000	0.48711	1.170000	0.42753	0.561000	0.74099	ACC		PASS	0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			4	20	4	20	---	---	---	---
TBL3	10607	broad.mit.edu	37	16	2024958	2024958	+	Missense_Mutation	SNP	G	G	A	rs541759826		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:2024958G>A	ENST00000568546.1	+	7	622	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	165					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.R165H(1)		breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GACCCTACACGCCTGCTGCTC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17846	0.0		0.0	False		,,,				2504	0.001				Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CGC>CAC		transducin beta-like 3							69.0	53.0	59.0					16																	2024958		2197	4299	6496	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024958G>A	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.494G>A	16.37:g.2024958G>A	ENSP00000454836:p.Arg165His					TBL3_uc002cnv.1_Missense_Mutation_p.R51H|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Missense_Mutation_p.R51H|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	p.R165H	NM_006453	NP_006444	Q12788	TBL3_HUMAN			7	596	+			165			WD 3.		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.494G>A	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021015	0.75275	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.32	4.15	0.48705	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.547110	0.03341	N	0.194821	T	0.72423	0.3458	L	0.49455	1.56	0.52501	D	0.999956	D	0.67145	0.996	D	0.63192	0.912	T	0.59836	-0.7379	9	0.44086	T	0.13	-25.763	13.9416	0.64059	0.0875:0.0:0.9125:0.0	.	165	Q12788	TBL3_HUMAN	H	165	.	ENSP00000331815:R165H	R	+	2	0	TBL3	1964959	0.990000	0.36364	0.993000	0.49108	0.690000	0.40134	1.546000	0.36179	2.484000	0.83849	0.561000	0.74099	CGC		PASS	0.677	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		15	39	15	39	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2152826	2152826	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:2152826G>A	ENST00000262304.4	-	24	9145	c.8937C>T	c.(8935-8937)ttC>ttT	p.F2979F	PKD1_ENST00000423118.1_Silent_p.F2979F|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2979					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.F2979F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGGGGAAATGAAGAAGGTGT	0.657																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3	GRCh37	CD012703	PKD1	D		c.(8935-8937)TTC>TTT		polycystin 1 isoform 1 precursor							44.0	55.0	51.0					16																	2152826		2195	4288	6483	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2152826G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8937C>T	16.37:g.2152826G>A						PKD1_uc002cot.1_Silent_p.F2979F|PKD1_uc010bse.1_RNA	p.F2979F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			24	9146	-			2979			Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.8937C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	2.178	-0.388286	0.04932	.	.	ENSG00000008710	ENST00000382481	.	.	.	4.55	3.6	0.41247	.	.	.	.	.	T	0.65770	0.2723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68116	-0.5494	5	0.87932	D	0	.	9.9215	0.41468	0.1644:0.0:0.8356:0.0	.	.	.	.	L	1217	.	ENSP00000371921:S1217L	S	-	2	0	PKD1	2092827	1.000000	0.71417	0.999000	0.59377	0.261000	0.26267	5.185000	0.65076	1.141000	0.42275	0.555000	0.69702	TCA		PASS	0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			17	33	17	33	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16219669	16219669	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:16219669C>T	ENST00000399410.3	+	26	3895	c.3720C>T	c.(3718-3720)gtC>gtT	p.V1240V	ABCC1_ENST00000351154.5_Silent_p.V1181V|ABCC1_ENST00000399408.2_Silent_p.V1250V|ABCC1_ENST00000349029.5_Silent_p.V1125V|ABCC1_ENST00000346370.5_Silent_p.V1184V|ABCC1_ENST00000345148.5_Silent_p.V1240V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1240	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.V1240V(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACTCACAGGTCACCACGTACT	0.453																																						uc010bvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3718-3720)GTC>GTT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						58.0	59.0	59.0					16																	16219669		1989	4168	6157	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16219669C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3720C>T	16.37:g.16219669C>T						ABCC1_uc010bvj.2_Silent_p.V1181V|ABCC1_uc010bvk.2_Silent_p.V1184V|ABCC1_uc010bvl.2_Silent_p.V1240V|ABCC1_uc010bvm.2_Silent_p.V1125V|ABCC1_uc002del.3_Silent_p.V1134V	p.V1240V	NM_004996	NP_004987	P33527	MRP1_HUMAN			26	3895	+			1240			Helical; Name=17.|ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3720C>T	CCDS42122.1																																																																																				PASS	0.453	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		5	27	5	27	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22325429	22325429	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:22325429G>A	ENST00000299853.5	+	8	669	c.502G>A	c.(502-504)Gac>Aac	p.D168N	POLR3E_ENST00000564209.1_Missense_Mutation_p.D168N|POLR3E_ENST00000359210.4_Missense_Mutation_p.D168N|POLR3E_ENST00000418581.2_Missense_Mutation_p.D132N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	168					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.D168N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGAGGCGGAAGACGATGTTAA	0.632																																						uc002dkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(502-504)GAC>AAC		RNA polymerase III polypeptide E							65.0	52.0	56.0					16																	22325429		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22325429G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.502G>A	16.37:g.22325429G>A	ENSP00000299853:p.Asp168Asn					POLR3E_uc002dkj.1_Missense_Mutation_p.D168N|POLR3E_uc002dkm.2_Missense_Mutation_p.D132N|POLR3E_uc010vbr.1_Missense_Mutation_p.D168N|POLR3E_uc002dkl.2_Missense_Mutation_p.D168N|POLR3E_uc010vbs.1_Missense_Mutation_p.D132N|POLR3E_uc010vbt.1_Missense_Mutation_p.D112N	p.D168N	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	8	658	+			168					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.502G>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154739	0.78114	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.44482	0.92;0.92;0.92	5.92	5.92	0.95590	.	0.209202	0.49916	D	0.000128	T	0.55909	0.1950	L	0.52759	1.655	0.58432	D	0.999996	P;B;P;B;P;P	0.45011	0.848;0.036;0.607;0.385;0.607;0.561	P;B;P;B;P;B	0.53760	0.734;0.073;0.538;0.246;0.538;0.436	T	0.52675	-0.8544	10	0.62326	D	0.03	-9.2385	19.9192	0.97079	0.0:0.0:1.0:0.0	.	112;132;168;168;168;168	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	N	168;168;132	ENSP00000299853:D168N;ENSP00000352140:D168N;ENSP00000399254:D132N	ENSP00000299853:D168N	D	+	1	0	POLR3E	22232930	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	9.129000	0.94430	2.811000	0.96726	0.555000	0.69702	GAC		PASS	0.632	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		6	21	6	21	---	---	---	---
LCMT1	51451	broad.mit.edu	37	16	25186343	25186343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:25186343G>T	ENST00000399069.3	+	10	1125	c.970G>T	c.(970-972)Gga>Tga	p.G324*	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Nonsense_Mutation_p.G269*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	324					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.G324*(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AACCAAAGGAGGAAATGAGCT	0.423																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(970-972)GGA>TGA		leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)						69.0	70.0	70.0					16																	25186343		1912	4136	6048	SO:0001587	stop_gained	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25186343G>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.970G>T	16.37:g.25186343G>T	ENSP00000382021:p.Gly324*					LCMT1_uc002dny.1_Nonsense_Mutation_p.G269*|LCMT1_uc002dnz.1_Nonsense_Mutation_p.G224*|LCMT1_uc002doa.1_Nonsense_Mutation_p.G169*	p.G324*	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	10	1128	+			324					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Nonsense_Mutation	SNP	ENST00000399069.3	37	c.970G>T	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539439	0.96474	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	.	.	.	5.0	4.05	0.47172	.	0.177914	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.8748	9.8078	0.40803	0.0957:0.0:0.9043:0.0	.	.	.	.	X	324;269;341	.	ENSP00000370349:G341X	G	+	1	0	LCMT1	25093844	0.995000	0.38212	0.037000	0.18230	0.065000	0.16274	3.484000	0.53201	1.252000	0.44001	0.655000	0.94253	GGA		PASS	0.423	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		4	22	4	22	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46710571	46710571	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:46710571T>A	ENST00000299138.7	-	8	896	c.838A>T	c.(838-840)Aat>Tat	p.N280Y	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	280					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.N280Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAAAGGATTCAAAGTCTGG	0.363																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)AAT>TAT		vacuolar protein sorting 35							75.0	71.0	72.0					16																	46710571		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46710571T>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.838A>T	16.37:g.46710571T>A	ENSP00000299138:p.Asn280Tyr					VPS35_uc002eed.2_Missense_Mutation_p.N101Y|VPS35_uc002eee.2_Missense_Mutation_p.N241Y	p.N280Y	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			8	937	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	280					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.838A>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.846179	0.91277	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.63913	-0.07	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.65498	2.005	0.80722	D	1	P;P	0.51537	0.946;0.693	P;B	0.56163	0.793;0.443	T	0.77233	-0.2663	10	0.87932	D	0	-24.4719	15.5154	0.75818	0.0:0.0:0.0:1.0	.	280;145	Q96QK1;F5GYF5	VPS35_HUMAN;.	Y	280;145	ENSP00000299138:N280Y	ENSP00000299138:N280Y	N	-	1	0	VPS35	45268072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.102000	0.63906	0.533000	0.62120	AAT		PASS	0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			15	50	15	50	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47732384	47732384	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:47732384T>A	ENST00000323584.5	+	30	3053	c.3029T>A	c.(3028-3030)cTg>cAg	p.L1010Q	PHKB_ENST00000455779.1_Missense_Mutation_p.L1003Q|PHKB_ENST00000299167.8_Missense_Mutation_p.L1010Q|PHKB_ENST00000566044.1_Missense_Mutation_p.L1003Q	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1010					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.L1010Q(1)|p.L1003Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCCATTGTACTGGAAAGAAAC	0.368																																						uc002eev.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)	3						c.(3028-3030)CTG>CAG		phosphorylase kinase, beta isoform a							71.0	71.0	71.0					16																	47732384		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47732384T>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.3029T>A	16.37:g.47732384T>A	ENSP00000313504:p.Leu1010Gln					PHKB_uc002eeu.3_Missense_Mutation_p.L1003Q|PHKB_uc002eew.3_Missense_Mutation_p.L251Q	p.L1010Q	NM_000293	NP_000284	Q93100	KPBB_HUMAN			30	3081	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	1010					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.3029T>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533878	0.85812	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	T;T;T	0.73047	-0.71;-0.71;-0.71	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.85775	0.5775	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.87980	0.2742	10	0.72032	D	0.01	-12.2241	16.0502	0.80755	0.0:0.0:0.0:1.0	.	251;1010;1003	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	Q	1003;1003;1010	ENSP00000299167:L1003Q;ENSP00000414345:L1003Q;ENSP00000313504:L1010Q	ENSP00000299167:L1003Q	L	+	2	0	PHKB	46289885	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.944000	0.87722	2.197000	0.70478	0.528000	0.53228	CTG		PASS	0.368	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			15	41	15	41	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745378	50745378	+	Missense_Mutation	SNP	A	A	C	rs368316739		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:50745378A>C	ENST00000300589.2	+	4	1661	c.1556A>C	c.(1555-1557)cAg>cCg	p.Q519P	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	519	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.Q519P(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGATTCTGCAGCATTTTCTG	0.592																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1555-1557)CAG>CCG		nucleotide-binding oligomerization domain		A	PRO/GLN	0,4396		0,0,2198	54.0	57.0	56.0		1556	1.7	1.0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	76	0,1,6497	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	519/1041	50745378	1,12995	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745378A>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1556A>C	16.37:g.50745378A>C	ENSP00000300589:p.Gln519Pro					NOD2_uc010cbk.1_Missense_Mutation_p.Q492P|NOD2_uc002egl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbm.1_Missense_Mutation_p.Q297P|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.Q519P	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1661	+		all_cancers(37;0.0156)	519			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1556A>C	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919583	0.52653	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70749	-0.51	5.12	1.69	0.24217	.	0.247079	0.29280	N	0.012615	T	0.77412	0.4126	M	0.83603	2.65	0.40066	D	0.975954	D;D;D	0.58620	0.965;0.983;0.981	P;P;P	0.56916	0.544;0.809;0.544	T	0.75665	-0.3239	10	0.41790	T	0.15	.	6.5651	0.22507	0.647:0.0:0.353:0.0	.	303;492;519	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	P	492;519	ENSP00000300589:Q519P	ENSP00000300589:Q519P	Q	+	2	0	NOD2	49302879	0.998000	0.40836	1.000000	0.80357	0.930000	0.56654	1.760000	0.38430	0.802000	0.34089	0.454000	0.30748	CAG		PASS	0.592	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		21	46	21	46	---	---	---	---
CA7	766	broad.mit.edu	37	16	66881002	66881002	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:66881002C>A	ENST00000338437.2	+	2	219	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_5'UTR	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	37					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S37Y(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	AATATCATCTCCAGCCAGGCT	0.577																																						uc002eqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)TCC>TAC		carbonic anhydrase VII isoform 1							126.0	104.0	112.0					16																	66881002		2200	4300	6500	SO:0001583	missense	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66881002C>A		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.110C>A	16.37:g.66881002C>A	ENSP00000345659:p.Ser37Tyr					uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR	p.S37Y	NM_005182	NP_005173	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	219	+		Ovarian(137;0.0563)	37					Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.110C>A	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721309	0.48728	.	.	ENSG00000168748	ENST00000338437	T	0.68025	-0.3	4.94	4.94	0.65067	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.056456	0.64402	D	0.000001	T	0.75148	0.3810	L	0.50993	1.605	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	T	0.78252	-0.2276	10	0.72032	D	0.01	-9.0537	16.7452	0.85470	0.0:1.0:0.0:0.0	.	37	P43166	CAH7_HUMAN	Y	37	ENSP00000345659:S37Y	ENSP00000345659:S37Y	S	+	2	0	CA7	65438503	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	7.413000	0.80104	2.292000	0.77174	0.561000	0.74099	TCC		PASS	0.577	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1			14	32	14	32	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71674862	71674862	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:71674862A>G	ENST00000299952.4	+	3	1208	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	392					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.K389E(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GAAGCGCTACAAAGGCAGCCG	0.547																																						uc002fau.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1165-1167)AAA>GAA		MARVEL domain containing 3 isoform 1							53.0	44.0	47.0					16																	71674862		2198	4299	6497	SO:0001583	missense	91862					integral to membrane		g.chr16:71674862A>G	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1165A>G	16.37:g.71674862A>G	ENSP00000299952:p.Lys389Glu					PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	p.K389E	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN			3	1228	+		Ovarian(137;0.125)	392			Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1165A>G	CCDS32478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.40|14.40	2.523843|2.523843	0.44866|0.44866	.|.	.|.	ENSG00000040199|ENSG00000140832	ENST00000299971|ENST00000299952	.|T	.|0.53640	.|0.61	5.67|5.67	0.576|0.576	0.17380|0.17380	.|.	.|0.420241	.|0.26522	.|N	.|0.023915	T|T	0.33381|0.33381	0.0861|0.0861	.|.	.|.	.|.	0.23981|0.23981	N|N	0.996273|0.996273	.|B	.|0.20052	.|0.041	.|B	.|0.14578	.|0.011	T|T	0.27739|0.27739	-1.0065|-1.0065	5|9	0.72032|0.72032	D|D	0.01|0.01	-36.2826|-36.2826	8.0215|8.0215	0.30412|0.30412	0.5424:0.3856:0.072:0.0|0.5424:0.3856:0.072:0.0	.|.	.|389	.|Q96A59-2	.|.	R|E	774|389	.|ENSP00000299952:K389E	ENSP00000299971:C774R|ENSP00000299952:K389E	C|K	-|+	1|1	0|0	PHLPP2|MARVELD3	70232363|70232363	0.508000|0.508000	0.26154|0.26154	0.001000|0.001000	0.08648|0.08648	0.011000|0.011000	0.07611|0.07611	1.186000|1.186000	0.32078|0.32078	0.062000|0.062000	0.16340|0.16340	0.533000|0.533000	0.62120|0.62120	TGT|AAA		PASS	0.547	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		5	27	5	27	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76513408	76513408	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:76513408C>A	ENST00000476707.1	+	11	2003	c.1864C>A	c.(1864-1866)Cca>Aca	p.P622T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P546T|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.P618T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P570T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.P546T(1)|p.P618T(1)|p.P594T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCCCCTGGAACCATTTCTTCT	0.333																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1855-1857)CCA>ACA		cell recognition protein CASPR4 isoform 1							107.0	111.0	110.0					16																	76513408		2198	4298	6496	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76513408C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1864C>A	16.37:g.76513408C>A	ENSP00000417628:p.Pro622Thr					CNTNAP4_uc002fev.1_Missense_Mutation_p.P483T|CNTNAP4_uc010chb.1_Missense_Mutation_p.P546T|CNTNAP4_uc002fex.1_Missense_Mutation_p.P622T|CNTNAP4_uc002few.2_Missense_Mutation_p.P594T	p.P619T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			14	2240	+			619			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1855C>A		.	.	.	.	.	.	.	.	.	.	C	15.72	2.915787	0.52546	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.57	5.57	0.84162	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.000000	0.39407	N	0.001367	T	0.36880	0.0983	.	.	.	0.58432	D	0.999994	D;D;D;P	0.60160	0.987;0.965;0.963;0.945	P;P;P;P	0.59703	0.852;0.862;0.852;0.613	T	0.04678	-1.0934	9	0.87932	D	0	.	19.3573	0.94420	0.0:1.0:0.0:0.0	.	546;622;594;619	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	T	618;570;546;622	ENSP00000306893:P618T;ENSP00000439733:P570T;ENSP00000418741:P546T;ENSP00000417628:P622T	ENSP00000306893:P618T	P	+	1	0	CNTNAP4	75070909	1.000000	0.71417	0.670000	0.29842	0.298000	0.27526	5.783000	0.68982	2.902000	0.99343	0.650000	0.86243	CCA		PASS	0.333	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		16	78	16	78	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83999366	83999366	+	Silent	SNP	C	C	T	rs546377245		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:83999366C>T	ENST00000343939.2	+	7	1820	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	OSGIN1_ENST00000393306.1_Silent_p.I396I|OSGIN1_ENST00000361711.3_Silent_p.I396I|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	479					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.I479I(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGGTCCTCATCGGCTCCCACC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17166	0.001		0.0	False		,,,				2504	0.0					uc002fha.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1435-1437)ATC>ATT		oxidative stress induced growth inhibitor 1							104.0	96.0	98.0					16																	83999366		2200	4300	6500	SO:0001819	synonymous_variant	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999366C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1437C>T	16.37:g.83999366C>T						NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Silent_p.I396I|OSGIN1_uc002fhc.2_Silent_p.I396I	p.I479I	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1820	+			479					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	ENST00000343939.2	37	c.1437C>T																																																																																					PASS	0.637	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		7	29	7	29	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87902863	87902863	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr16:87902863C>A	ENST00000261622.4	-	1	231	c.166G>T	c.(166-168)Gtg>Ttg	p.V56L		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	56					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.V56L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ATGATGGCCACGCCGTTGAGC	0.706																																						uc002fkm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GTG>TTG		solute carrier family 7 (cationic amino acid							61.0	65.0	64.0					16																	87902863		2196	4296	6492	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87902863C>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.166G>T	16.37:g.87902863C>A	ENSP00000261622:p.Val56Leu						p.V56L	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	1	238	-			56			Helical; (Potential).		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.166G>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	c	36	5.757807	0.96898	.	.	ENSG00000103257	ENST00000261622	D	0.89343	-2.5	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	L	0.56396	1.775	0.80722	D	1	D	0.58620	0.983	P	0.60117	0.869	D	0.92922	0.6356	10	0.72032	D	0.01	.	15.1086	0.72338	0.0:1.0:0.0:0.0	.	56	Q01650	LAT1_HUMAN	L	56	ENSP00000261622:V56L	ENSP00000261622:V56L	V	-	1	0	SLC7A5	86460364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.238000	0.43070	1.792000	0.52537	0.400000	0.26472	GTG		PASS	0.706	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		6	46	6	46	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578202	7578202	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:7578202A>T	ENST00000269305.4	-	6	836	c.647T>A	c.(646-648)gTg>gAg	p.V216E	TP53_ENST00000420246.2_Missense_Mutation_p.V216E|TP53_ENST00000445888.2_Missense_Mutation_p.V216E|TP53_ENST00000359597.4_Missense_Mutation_p.V216E|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216E|TP53_ENST00000455263.2_Missense_Mutation_p.V216E	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(10)|p.V216del(8)|p.0?(8)|p.V216E(7)|p.V216G(6)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V84G(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*6(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V84E(1)|p.V123G(1)|p.V123E(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>M(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)	GGGCACCACCACACTATGTCG	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		62	Substitution - Missense(20)|Deletion - In frame(11)|Deletion - Frameshift(10)|Unknown(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V216fs*6(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V216insX(1)	ovary(9)|lung(8)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|endometrium(5)|oesophagus(4)|liver(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|central_nervous_system(2)|breast(2)|urinary_tract(2)|soft_tissue(1)|skin(1)|pancreas(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.(646-648)GTG>GAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							123.0	111.0	115.0					17																	7578202		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578202A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.647T>A	17.37:g.7578202A>T	ENSP00000269305:p.Val216Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V216E|TP53_uc002gih.2_Missense_Mutation_p.V216E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84E|TP53_uc010cng.1_Missense_Mutation_p.V84E|TP53_uc002gii.1_Missense_Mutation_p.V84E|TP53_uc010cnh.1_Missense_Mutation_p.V216E|TP53_uc010cni.1_Missense_Mutation_p.V216E|TP53_uc002gij.2_Missense_Mutation_p.V216E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123E|TP53_uc002gio.2_Missense_Mutation_p.V84E|TP53_uc010vug.1_Missense_Mutation_p.V177E	p.V216E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	841	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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.647T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853378	0.91355	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.28	5.28	0.74379	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	0.99878	0.9942	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.96334	0.9246	10	0.87932	D	0	-12.2832	13.4753	0.61306	1.0:0.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216E;ENSP00000352610:V216E;ENSP00000269305:V216E;ENSP00000398846:V216E;ENSP00000391127:V216E;ENSP00000391478:V216E;ENSP00000425104:V84E;ENSP00000423862:V123E	ENSP00000269305:V216E	V	-	2	0	TP53	7518927	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG		PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	14	7	14	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8170927	8170927	+	Missense_Mutation	SNP	G	G	A	rs201071550	byFrequency	TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:8170927G>A	ENST00000314666.6	+	26	3459	c.3326G>A	c.(3325-3327)cGt>cAt	p.R1109H	PFAS_ENST00000545834.1_Missense_Mutation_p.R685H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1109	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.R1109H(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GACACTTTCCGTGGCGTGGCC	0.627													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13031	0.0		0.0	False		,,,				2504	0.001					uc002gkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3325-3327)CGT>CAT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	168.0	145.0	153.0		3326	0.8	0.3	17		153	0,8600		0,0,4300	yes	missense	PFAS	NM_012393.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1109/1339	8170927	1,13005	2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170927G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3326G>A	17.37:g.8170927G>A	ENSP00000313490:p.Arg1109His					PFAS_uc010vuv.1_Missense_Mutation_p.R685H|PFAS_uc002gks.2_Missense_Mutation_p.R188H	p.R1109H	NM_012393	NP_036525	O15067	PUR4_HUMAN			26	3467	+			1109			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3326G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321263	0.41096	2.27E-4	0.0	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.31510	1.49;2.22	5.68	0.801	0.18679	Glutamine amidotransferase type 1 (1);	0.137292	0.47455	D	0.000227	T	0.36166	0.0957	L	0.48362	1.52	0.37847	D	0.92926	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.42565	-0.9444	10	0.08381	T	0.77	-1.5376	7.4135	0.27032	0.2437:0.1279:0.6284:0.0	.	1109;1109	A8K8N7;O15067	.;PUR4_HUMAN	H	685;1109;518	ENSP00000441706:R685H;ENSP00000313490:R1109H	ENSP00000313490:R1109H	R	+	2	0	PFAS	8111652	0.958000	0.32768	0.339000	0.25562	0.468000	0.32798	1.592000	0.36676	0.324000	0.23333	0.563000	0.77884	CGT		PASS	0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			19	40	19	40	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10293781	10293781	+	Missense_Mutation	SNP	C	C	A	rs372307102		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:10293781C>A	ENST00000403437.2	-	40	5898	c.5804G>T	c.(5803-5805)aGt>aTt	p.S1935I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1935					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.S1935I(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACTCTGCACTGATTTTTGT	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(5803-5805)AGT>ATT		myosin, heavy chain 8, skeletal muscle,							141.0	134.0	137.0					17																	10293781		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10293781C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5804G>T	17.37:g.10293781C>A	ENSP00000384330:p.Ser1935Ile					uc002gml.1_Intron	p.S1935I	NM_002472	NP_002463	P13535	MYH8_HUMAN			40	5899	-			1935			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5804G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468200	0.26335	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85013	-1.93	5.58	2.51	0.30379	.	0.631717	0.13349	U	0.394523	T	0.61464	0.2349	N	0.01109	-1.01	0.27857	N	0.940547	B	0.02656	0.0	B	0.01281	0.0	T	0.54437	-0.8294	10	0.35671	T	0.21	.	8.9224	0.35619	0.0:0.7418:0.1233:0.1349	.	1935	P13535	MYH8_HUMAN	I	1935	ENSP00000384330:S1935I	ENSP00000252173:S1935I	S	-	2	0	MYH8	10234506	0.887000	0.30362	0.402000	0.26371	0.937000	0.57800	1.995000	0.40767	0.309000	0.22966	0.650000	0.86243	AGT		PASS	0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		18	74	18	74	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10315780	10315780	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:10315780C>A	ENST00000403437.2	-	14	1417	c.1323G>T	c.(1321-1323)tgG>tgT	p.W441C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	441	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.W441C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGTGACCATCCACAGGAACA	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(1321-1323)TGG>TGT		myosin, heavy chain 8, skeletal muscle,							245.0	226.0	233.0					17																	10315780		2203	4298	6501	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315780C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1323G>T	17.37:g.10315780C>A	ENSP00000384330:p.Trp441Cys					uc002gml.1_Intron	p.W441C	NM_002472	NP_002463	P13535	MYH8_HUMAN			14	1418	-			441			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1323G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253757	0.80135	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91521	-2.86	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.000000	0.39544	U	0.001321	D	0.97679	0.9239	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	17.6116	0.88055	0.0:1.0:0.0:0.0	.	441	P13535	MYH8_HUMAN	C	441	ENSP00000384330:W441C	ENSP00000252173:W441C	W	-	3	0	MYH8	10256505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.603000	0.82811	2.391000	0.81399	0.650000	0.86243	TGG		PASS	0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		52	106	52	106	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10433009	10433009	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:10433009T>C	ENST00000245503.5	-	24	3373	c.2989A>G	c.(2989-2991)Aag>Gag	p.K997E	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K997E|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	997					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K997E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGTCAGCTTAGCAATGGTT	0.498																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2989-2991)AAG>GAG		myosin heavy chain IIa							140.0	140.0	140.0					17																	10433009		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433009T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2989A>G	17.37:g.10433009T>C	ENSP00000245503:p.Lys997Glu					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K997E|MYH2_uc010coj.2_Intron	p.K997E	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			24	3117	-			997			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2989A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349794	0.82132	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.93659	-3.26;-3.26	5.24	5.24	0.73138	.	0.000000	0.40908	U	0.000981	D	0.96460	0.8845	M	0.89904	3.07	0.53688	D	0.999974	P	0.50819	0.939	P	0.55508	0.777	D	0.97259	0.9903	10	0.87932	D	0	.	15.3006	0.73949	0.0:0.0:0.0:1.0	.	997	Q9UKX2	MYH2_HUMAN	E	997	ENSP00000245503:K997E;ENSP00000380367:K997E	ENSP00000245503:K997E	K	-	1	0	MYH2	10373734	1.000000	0.71417	0.923000	0.36655	0.866000	0.49608	7.511000	0.81718	2.194000	0.70268	0.482000	0.46254	AAG		PASS	0.498	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		37	66	37	66	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18044424	18044424	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:18044424C>A	ENST00000205890.5	+	22	5836	c.5498C>A	c.(5497-5499)cCa>cAa	p.P1833Q	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1833	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1833Q(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGGATTTCCAGTGCGCCTG	0.547											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5497-5499)CCA>CAA		myosin XV							92.0	93.0	92.0					17																	18044424		1952	4146	6098	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18044424C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5498C>A	17.37:g.18044424C>A	ENSP00000205890:p.Pro1833Gln		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722		p.P1833Q	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			21	5836	+	all_neural(463;0.228)		1833			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5498C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432483	0.62844	.	.	ENSG00000091536	ENST00000205890	D	0.90504	-2.68	5.78	5.78	0.91487	Myosin head, motor domain (2);	.	.	.	.	D	0.96741	0.8936	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97078	0.9782	9	0.87932	D	0	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	1833	Q9UKN7	MYO15_HUMAN	Q	1833	ENSP00000205890:P1833Q	ENSP00000205890:P1833Q	P	+	2	0	MYO15A	17985149	1.000000	0.71417	0.824000	0.32777	0.282000	0.26991	7.542000	0.82095	2.733000	0.93635	0.561000	0.74099	CCA		PASS	0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	28	4	28	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39740083	39740083	+	Nonsense_Mutation	SNP	C	C	A	rs202157466		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:39740083C>A	ENST00000167586.6	-	4	942	c.856G>T	c.(856-858)Gag>Tag	p.E286*		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	286	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.E286*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCACGCATCTCGTTCAGAATG	0.562																																						uc002hxf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(856-858)GAG>TAG		keratin 14							193.0	163.0	174.0					17																	39740083		2203	4300	6503	SO:0001587	stop_gained	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740083C>A	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.856G>T	17.37:g.39740083C>A	ENSP00000167586:p.Glu286*					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Nonsense_Mutation_p.E286*	p.E286*	NM_000526	NP_000517	P02533	K1C14_HUMAN			4	917	-		Breast(137;0.000307)	286			Rod.|Coil 2.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Nonsense_Mutation	SNP	ENST00000167586.6	37	c.856G>T	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908396	0.92107	.	.	ENSG00000186847	ENST00000167586	.	.	.	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.6626	0.17676	0.1442:0.6405:0.1392:0.0761	.	.	.	.	X	286	.	ENSP00000167586:E286X	E	-	1	0	KRT14	36993609	0.391000	0.25221	1.000000	0.80357	0.580000	0.36256	2.422000	0.44696	2.523000	0.85059	0.655000	0.94253	GAG		PASS	0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	150	6	150	---	---	---	---
B4GALNT2	124872	broad.mit.edu	37	17	47241536	47241536	+	Nonsense_Mutation	SNP	G	G	T	rs530225763		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:47241536G>T	ENST00000300404.2	+	8	1092	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.E285*|B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.E259*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	345					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.E345*(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAGTATTCGAGAGTATTACCC	0.483																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1033-1035)GAG>TAG		beta-1,4-N-acetyl-galactosaminyl transferase 2							173.0	171.0	172.0					17																	47241536		2203	4300	6503	SO:0001587	stop_gained	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47241536G>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1033G>T	17.37:g.47241536G>T	ENSP00000300404:p.Glu345*					B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.E259*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.E285*	p.E345*	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		8	1092	+			345			Lumenal (Potential).		B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	ENST00000300404.2	37	c.1033G>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629459	0.87660	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.28	-2.53	0.06326	.	1.563030	0.03703	N	0.248972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-3.9728	7.1919	0.25831	0.2751:0.4588:0.2661:0.0	.	.	.	.	X	259;285;345	.	ENSP00000300404:E345X	E	+	1	0	B4GALNT2	44596535	0.000000	0.05858	0.002000	0.10522	0.984000	0.73092	-1.667000	0.01961	-0.199000	0.10317	0.555000	0.69702	GAG		PASS	0.483	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		6	202	6	202	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54451996	54451996	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:54451996G>T	ENST00000318698.2	+	7	875	c.840G>T	c.(838-840)atG>atT	p.M280I	ANKFN1_ENST00000566473.2_Missense_Mutation_p.M280I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	280	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.M280I(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCTGTCTCATGGTAACCAGCA	0.468																																						uc002iun.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(838-840)ATG>ATT		ankyrin-repeat and fibronectin type III domain							215.0	195.0	202.0					17																	54451996		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54451996G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.840G>T	17.37:g.54451996G>T	ENSP00000321627:p.Met280Ile						p.M280I	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			7	875	+			280			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.840G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344194	0.24339	.	.	ENSG00000153930	ENST00000318698	T	0.55760	0.5	5.53	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.304072	0.43747	D	0.000527	T	0.49712	0.1573	L	0.54323	1.7	0.40057	D	0.975854	B	0.17667	0.023	B	0.16722	0.016	T	0.50841	-0.8780	10	0.51188	T	0.08	-4.1109	14.6288	0.68640	0.0699:0.0:0.9301:0.0	.	280	Q8N957	ANKF1_HUMAN	I	280	ENSP00000321627:M280I	ENSP00000321627:M280I	M	+	3	0	ANKFN1	51806995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.373000	0.34272	1.487000	0.48415	0.655000	0.94253	ATG		PASS	0.468	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		7	167	7	167	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57109409	57109409	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:57109409C>G	ENST00000262294.7	-	18	2055	c.1796G>C	c.(1795-1797)aGa>aCa	p.R599T	TRIM37_ENST00000393065.2_Missense_Mutation_p.R565T|TRIM37_ENST00000393066.3_Missense_Mutation_p.R599T|TRIM37_ENST00000376149.3_Missense_Mutation_p.R477T	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	599					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R599T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATGTGTTCTTCTTGATATTCT	0.363									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1795-1797)AGA>ACA		tripartite motif-containing 37 protein							116.0	123.0	121.0					17																	57109409		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57109409C>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1796G>C	17.37:g.57109409C>G	ENSP00000262294:p.Arg599Thr					TRIM37_uc002iwz.3_Missense_Mutation_p.R599T|TRIM37_uc002ixa.3_Missense_Mutation_p.R477T|TRIM37_uc010woc.1_Missense_Mutation_p.R565T	p.R599T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			18	2240	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		599					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1796G>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810724	0.70797	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.69806	1.3;1.3;-0.43;0.91	5.75	5.75	0.90469	.	0.102275	0.64402	D	0.000002	T	0.56877	0.2015	N	0.20986	0.625	0.58432	D	0.999996	P;P;P	0.46859	0.885;0.885;0.688	B;B;B	0.39805	0.31;0.31;0.095	T	0.62909	-0.6754	10	0.59425	D	0.04	-15.95	19.938	0.97149	0.0:1.0:0.0:0.0	.	565;477;599	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	T	599;599;477;565	ENSP00000376785:R599T;ENSP00000262294:R599T;ENSP00000365319:R477T;ENSP00000376784:R565T	ENSP00000262294:R599T	R	-	2	0	TRIM37	54464191	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.742000	0.68646	2.732000	0.93576	0.650000	0.86243	AGA		PASS	0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		24	99	24	99	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58556552	58556552	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:58556552C>A	ENST00000083182.3	-	4	747	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	154					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.D154Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AGCATCTCATCGTGTAGAGTA	0.393																																						uc002iys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GAT>TAT		amyloid beta precursor protein-binding protein							114.0	98.0	104.0					17																	58556552		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58556552C>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.460G>T	17.37:g.58556552C>A	ENSP00000083182:p.Asp154Tyr					APPBP2_uc010ddl.1_Missense_Mutation_p.D83Y	p.D154Y	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		4	748	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		154					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.460G>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766144	0.49574	.	.	ENSG00000062725	ENST00000083182	T	0.77620	-1.11	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.129109	0.64402	D	0.000001	T	0.64338	0.2589	L	0.34521	1.04	0.50632	D	0.999881	B	0.30937	0.301	B	0.32583	0.148	T	0.59810	-0.7384	10	0.02654	T	1	-18.4476	12.6523	0.56768	0.0:0.9238:0.0:0.0762	.	154	Q92624	APBP2_HUMAN	Y	154	ENSP00000083182:D154Y	ENSP00000083182:D154Y	D	-	1	0	APPBP2	55911334	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.440000	0.59975	2.628000	0.89032	0.655000	0.94253	GAT		PASS	0.393	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		4	67	4	67	---	---	---	---
EFCAB3	146779	broad.mit.edu	37	17	60460380	60460380	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:60460380C>G	ENST00000305286.3	+	2	118	c.40C>G	c.(40-42)Cct>Gct	p.P14A	RNU7-52P_ENST00000516172.1_RNA|EFCAB3_ENST00000450662.2_Missense_Mutation_p.P66A	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	14							calcium ion binding (GO:0005509)	p.P14A(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TAAGCTGAATCCTCTAACAAA	0.328																																						uc002izu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(40-42)CCT>GCT		EF-hand calcium binding domain 3 isoform b							74.0	68.0	70.0					17																	60460380		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60460380C>G	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.40C>G	17.37:g.60460380C>G	ENSP00000302649:p.Pro14Ala					EFCAB3_uc010wpc.1_Missense_Mutation_p.P66A	p.P14A	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		2	118	+			14					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.40C>G	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507444	0.64410	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.71461	0.01;0.13;-0.57;-0.54	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000131	T	0.78729	0.4329	M	0.64997	1.995	0.37645	D	0.922209	D;D	0.61080	0.989;0.989	P;P	0.60068	0.868;0.868	T	0.77656	-0.2506	10	0.29301	T	0.29	.	14.6892	0.69072	0.0:1.0:0.0:0.0	.	14;14	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	A	66;14;14;14	ENSP00000403932:P66A;ENSP00000302649:P14A;ENSP00000429124:P14A;ENSP00000428626:P14A	ENSP00000302649:P14A	P	+	1	0	EFCAB3	57814112	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	3.347000	0.52200	2.847000	0.97988	0.655000	0.94253	CCT		PASS	0.328	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		4	71	4	71	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74921168	74921168	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:74921168C>G	ENST00000569840.2	+	9	1720	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L	MGAT5B_ENST00000301618.4_Missense_Mutation_p.F382L|MGAT5B_ENST00000428789.2_Missense_Mutation_p.F393L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	382					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.F382L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTCTCCTTCAAGAAGTACC	0.657																																						uc002jti.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1177-1179)TTC>TTG		N-acetylglucosaminyltranferase VB isoform 2							81.0	72.0	75.0					17																	74921168		2203	4299	6502	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74921168C>G	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1146C>G	17.37:g.74921168C>G	ENSP00000456037:p.Phe382Leu					MGAT5B_uc002jth.2_Missense_Mutation_p.F382L	p.F393L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			8	1282	+			382			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1179C>G	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487809	0.44249	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.39406	1.09;1.08	5.08	5.08	0.68730	.	0.198830	0.44285	D	0.000470	T	0.30916	0.0780	L	0.38175	1.15	0.46149	D	0.998897	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.14783	-1.0460	10	0.49607	T	0.09	-17.6629	7.4386	0.27171	0.0:0.8139:0.0:0.1861	.	393;382	Q3V5L5-2;Q3V5L5-5	.;.	L	382;393	ENSP00000301618:F382L;ENSP00000391227:F393L	ENSP00000301618:F382L	F	+	3	2	MGAT5B	72432763	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.149000	0.31626	2.370000	0.80446	0.561000	0.74099	TTC		PASS	0.657	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		9	65	9	65	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76831437	76831437	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr17:76831437T>C	ENST00000542802.3	-	4	843	c.400A>G	c.(400-402)Aat>Gat	p.N134D	USP36_ENST00000589424.1_Missense_Mutation_p.N134D|USP36_ENST00000590546.2_Missense_Mutation_p.N134D|USP36_ENST00000312010.6_Missense_Mutation_p.N134D			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	134	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.N134D(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATGGTGGCATTGAGAAAGCAG	0.587																																						uc002jvz.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(400-402)AAT>GAT		ubiquitin specific peptidase 36							205.0	130.0	156.0					17																	76831437		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831437T>C	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.400A>G	17.37:g.76831437T>C	ENSP00000441214:p.Asn134Asp					USP36_uc002jwa.1_Missense_Mutation_p.N134D|USP36_uc002jwd.1_Missense_Mutation_p.N134D	p.N134D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	725	-			134					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.400A>G	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684936	0.88639	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.19532	2.14;2.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80169	-0.1494	10	0.87932	D	0	-40.8209	14.4146	0.67139	0.0:0.0:0.0:1.0	.	134;134	Q8IXW9;Q9P275-2	.;.	D	134	ENSP00000310590:N134D;ENSP00000441214:N134D	ENSP00000310590:N134D	N	-	1	0	USP36	74343032	1.000000	0.71417	0.466000	0.27168	0.761000	0.43186	7.860000	0.86993	2.044000	0.60594	0.459000	0.35465	AAT		PASS	0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		16	63	16	63	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12463419	12463419	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:12463419G>T	ENST00000409402.4	-	12	1836	c.1569C>A	c.(1567-1569)tcC>tcA	p.S523S	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.S312S|SPIRE1_ENST00000453447.2_Silent_p.S389S|SPIRE1_ENST00000410092.3_Silent_p.S509S|SPIRE1_ENST00000383356.2_Silent_p.S350S	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.S350S(1)|p.S523S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CCTTTTCAATGGAATGTCGTC	0.473																																						uc002kre.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1567-1569)TCC>TCA		spire homolog 1 isoform a							123.0	112.0	116.0					18																	12463419		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12463419G>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1569C>A	18.37:g.12463419G>T						SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.S389S|SPIRE1_uc010wzx.1_Silent_p.S312S|SPIRE1_uc010wzy.1_Silent_p.S509S	p.S523S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			12	1616	-			523						Silent	SNP	ENST00000409402.4	37	c.1569C>A	CCDS45829.1																																																																																				PASS	0.473	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		4	42	4	42	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21424984	21424984	+	Silent	SNP	A	A	G	rs368047900		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:21424984A>G	ENST00000313654.9	+	30	3856	c.3615A>G	c.(3613-3615)ctA>ctG	p.L1205L	LAMA3_ENST00000399516.3_Silent_p.L1205L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1205	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.L1205L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCGTGTTCTAGTGGTGCCTG	0.413																																						uc002kuq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3613-3615)CTA>CTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A	,	0,3784		0,0,1892	102.0	96.0	98.0		3615,3615	-6.5	0.6	18		98	1,8265		0,1,4132	no	coding-synonymous,coding-synonymous	LAMA3	NM_001127717.1,NM_198129.1	,	0,1,6024	GG,GA,AA		0.0121,0.0,0.0083	,	1205/3278,1205/3334	21424984	1,12049	1892	4133	6025	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21424984A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3615A>G	18.37:g.21424984A>G						LAMA3_uc002kur.2_Silent_p.L1205L	p.L1205L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			30	3701	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1205			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3615A>G	CCDS42419.1																																																																																				PASS	0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	31	9	31	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:47812290C>G	ENST00000285106.6	-	5	1182	c.468G>C	c.(466-468)caG>caC	p.Q156H	CXXC1_ENST00000412036.2_Missense_Mutation_p.Q156H|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.Q156H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.Q156H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						gctgctgctgctggtgatgct	0.557																																						uc002leq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(466-468)CAG>CAC		CXXC finger 1 (PHD domain) isoform 2							43.0	39.0	40.0					18																	47812290		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812290C>G	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.468G>C	18.37:g.47812290C>G	ENSP00000285106:p.Gln156His					CXXC1_uc002lep.3_Missense_Mutation_p.Q13H|CXXC1_uc002ler.3_Missense_Mutation_p.Q156H|CXXC1_uc010doy.2_Missense_Mutation_p.Q156H|CXXC1_uc002les.2_Missense_Mutation_p.Q156H	p.Q156H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			5	1201	-			156					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.468G>C	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352385	0.11182	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24151	1.88;1.87	2.57	-0.917	0.10485	.	0.739778	0.10861	U	0.626054	T	0.08758	0.0217	N	0.14661	0.345	0.27196	N	0.960293	P;B;B;B;B	0.43094	0.799;0.438;0.42;0.296;0.191	B;B;B;B;B	0.24006	0.05;0.02;0.031;0.014;0.014	T	0.22800	-1.0206	10	0.40728	T	0.16	-0.5462	4.5447	0.12074	0.0:0.4012:0.4494:0.1494	.	156;156;156;156;23	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;.;CXXC1_HUMAN;.	H	156	ENSP00000285106:Q156H;ENSP00000390475:Q156H	ENSP00000285106:Q156H	Q	-	3	2	CXXC1	46066288	0.955000	0.32602	0.993000	0.49108	0.749000	0.42624	-0.083000	0.11286	0.025000	0.15241	0.542000	0.68232	CAG		PASS	0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		3	19	3	19	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55361814	55361814	+	Splice_Site	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:55361814C>T	ENST00000283684.4	-	10	1028	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Splice_Site_p.T343T|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	343					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T343T(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAATAAATACCGTGTAAACCA	0.303																																						uc002lgw.2																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1027-1029)ACG>ACA		ATPase, class I, type 8B, member 1							132.0	132.0	132.0					18																	55361814		2201	4300	6501	SO:0001630	splice_region_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55361814C>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1029+1G>A	18.37:g.55361814C>T						uc002lgv.1_Intron	p.T343T	NM_005603	NP_005594	O43520	AT8B1_HUMAN			10	1029	-		Colorectal(73;0.229)	343			Helical; (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.1029G>A	CCDS11965.1																																																																																				PASS	0.303	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	Silent	4	18	4	18	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67992780	67992780	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:67992780C>A	ENST00000397942.3	+	2	1192	c.876C>A	c.(874-876)acC>acA	p.T292T	SOCS6_ENST00000582322.1_Silent_p.T292T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	292					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.T292T(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGATTGGCACCACGGGAGTCA	0.542																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(874-876)ACC>ACA		suppressor of cytokine signaling 6							155.0	140.0	145.0					18																	67992780		2203	4300	6503	SO:0001819	synonymous_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992780C>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.876C>A	18.37:g.67992780C>A						SOCS6_uc010dqq.2_Silent_p.T292T	p.T292T	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	1192	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	292					Q8WUM3	Silent	SNP	ENST00000397942.3	37	c.876C>A	CCDS11998.1																																																																																				PASS	0.542	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			5	88	5	88	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4512463	4512463	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:4512463G>T	ENST00000301286.3	-	3	1466	c.1467C>A	c.(1465-1467)tcC>tcA	p.S489S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	489	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.S417S(1)|p.S489S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGCCCAGTGGACACAGCAT	0.617																																						uc002mar.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1465-1467)TCC>TCA		plasma membrane associated protein, S3-12							112.0	122.0	119.0					19																	4512463		2001	4167	6168	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4512463G>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1467C>A	19.37:g.4512463G>T						PLIN4_uc010dub.1_5'Flank	p.S489S	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	1467	-			489			27 X 33 AA approximate tandem repeat.|12.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1467C>A	CCDS45927.1																																																																																				PASS	0.617	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		27	103	27	103	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072615	9072615	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:9072615T>C	ENST00000397910.4	-	3	15034	c.14831A>G	c.(14830-14832)gAt>gGt	p.D4944G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4946	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.D4944G(2)|p.D577G(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						TGTGGACTGATCAGGGCCAGG	0.498																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14830-14832)GAT>GGT		mucin 16							212.0	194.0	200.0					19																	9072615		2056	4200	6256	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072615T>C	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.14831A>G	19.37:g.9072615T>C	ENSP00000381008:p.Asp4944Gly						p.D4944G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15035	-			4946			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14831A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	11.22	1.575724	0.28092	.	.	ENSG00000181143	ENST00000397910	T	0.03004	4.08	2.47	-4.95	0.03048	.	.	.	.	.	T	0.02047	0.0064	N	0.19112	0.55	.	.	.	B	0.12630	0.006	B	0.08055	0.003	T	0.47355	-0.9124	8	0.87932	D	0	.	0.2986	0.00269	0.2372:0.1555:0.267:0.3403	.	4944	B5ME49	.	G	4944	ENSP00000381008:D4944G	ENSP00000381008:D4944G	D	-	2	0	MUC16	8933615	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	-2.090000	0.01356	-1.082000	0.03101	0.234000	0.17832	GAT		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	100	16	100	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11515847	11515847	+	Silent	SNP	G	G	C	rs373924071		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:11515847G>C	ENST00000380456.3	-	9	1224	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	RGL3_ENST00000393423.3_Silent_p.L387L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	387	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.L387L(1)|p.L151L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCTGCTGCTGAGGTGGTTGT	0.542																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1159-1161)CTC>CTG		ral guanine nucleotide dissociation							134.0	133.0	134.0					19																	11515847		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11515847G>C	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1161C>G	19.37:g.11515847G>C						RGL3_uc002mrn.2_Silent_p.L151L|RGL3_uc002mrm.2_Silent_p.L151L|RGL3_uc002mro.2_Silent_p.L387L	p.L387L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			9	1225	-			387			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.1161C>G	CCDS32910.1																																																																																				PASS	0.542	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		20	97	20	97	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11515889	11515889	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:11515889G>C	ENST00000380456.3	-	9	1182	c.1119C>G	c.(1117-1119)ttC>ttG	p.F373L	RGL3_ENST00000393423.3_Missense_Mutation_p.F373L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	373	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.F137L(1)|p.F373L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AAAGTTTCCTGAAAGTAGATA	0.547																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1117-1119)TTC>TTG		ral guanine nucleotide dissociation							103.0	104.0	104.0					19																	11515889		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11515889G>C	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1119C>G	19.37:g.11515889G>C	ENSP00000369823:p.Phe373Leu					RGL3_uc002mrn.2_Missense_Mutation_p.F137L|RGL3_uc002mrm.2_Missense_Mutation_p.F137L|RGL3_uc002mro.2_Missense_Mutation_p.F373L	p.F373L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			9	1183	-			373			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1119C>G	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035572	0.54896	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.28666	1.6;1.6	5.51	5.51	0.81932	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.048016	0.85682	D	0.000000	T	0.45397	0.1340	L	0.33189	0.99	0.52501	D	0.999957	D;D;D;D	0.63880	0.988;0.993;0.988;0.991	D;P;D;D	0.65323	0.934;0.852;0.934;0.91	T	0.40776	-0.9545	10	0.87932	D	0	.	18.1622	0.89712	0.0:0.0:1.0:0.0	.	373;373;373;170	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	L	170;373;373	ENSP00000377075:F373L;ENSP00000369823:F373L	ENSP00000344665:F170L	F	-	3	2	RGL3	11376889	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	2.941000	0.49011	2.586000	0.87340	0.563000	0.77884	TTC		PASS	0.547	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		16	80	16	80	---	---	---	---
ZNF564	163050	broad.mit.edu	37	19	12638156	12638156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:12638156G>A	ENST00000339282.7	-	4	962	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	256					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.Q256*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCACATTCCTGACATTTATAA	0.413																																						uc002mty.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(766-768)CAG>TAG		zinc finger protein 564							78.0	85.0	83.0					19																	12638156		2148	4285	6433	SO:0001587	stop_gained	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12638156G>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.766C>T	19.37:g.12638156G>A	ENSP00000340004:p.Gln256*					ZNF709_uc002mtx.3_Intron	p.Q256*	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN			4	976	-			256			C2H2-type 6.		B9EGT4|Q6P1K6	Nonsense_Mutation	SNP	ENST00000339282.7	37	c.766C>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814003	0.90790	.	.	ENSG00000249709	ENST00000339282	.	.	.	1.71	-0.664	0.11406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.3159	0.02107	0.1586:0.159:0.4134:0.269	.	.	.	.	X	256	.	ENSP00000340004:Q256X	Q	-	1	0	ZNF564	12499156	0.000000	0.05858	0.004000	0.12327	0.950000	0.60333	-3.177000	0.00570	-0.191000	0.10448	0.643000	0.83706	CAG		PASS	0.413	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		16	70	16	70	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12969501	12969501	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:12969501C>T	ENST00000251472.4	+	12	1353	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	MAST1_ENST00000591495.1_Silent_p.F434F	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.F438F(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGGCATGTTCTGCTCCTTTG	0.587																																						uc002mvm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1312-1314)TTC>TTT		microtubule associated serine/threonine kinase							96.0	82.0	87.0					19																	12969501		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969501C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1314C>T	19.37:g.12969501C>T						MAST1_uc002mvk.2_Silent_p.F434F	p.F438F	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			12	1442	+			438			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1314C>T	CCDS32921.1																																																																																				PASS	0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		10	31	10	31	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17835935	17835935	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:17835935G>T	ENST00000324096.4	+	4	532	c.381G>T	c.(379-381)gaG>gaT	p.E127D	MAP1S_ENST00000544059.2_Missense_Mutation_p.E101D|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	127	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.E127D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						AGACGGGGGAGCTGCTGCTAC	0.617																																						uc002nhe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(379-381)GAG>GAT		BPY2 interacting protein 1							90.0	87.0	88.0					19																	17835935		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835935G>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.381G>T	19.37:g.17835935G>T	ENSP00000325313:p.Glu127Asp					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.E127D|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.E101D	p.E127D	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			4	390	+			127			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.381G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805094	0.50315	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20200	2.09;2.09	4.29	4.29	0.51040	.	0.000000	0.51477	D	0.000087	T	0.18299	0.0439	L	0.31371	0.925	0.39000	D	0.959331	P;P;P	0.37466	0.596;0.596;0.506	B;B;B	0.40982	0.345;0.345;0.131	T	0.09250	-1.0683	10	0.22706	T	0.39	-32.1456	14.2264	0.65863	0.0:0.0:1.0:0.0	.	101;127;127	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	D	127;101	ENSP00000325313:E127D;ENSP00000439243:E101D	ENSP00000325313:E127D	E	+	3	2	MAP1S	17696935	0.996000	0.38824	1.000000	0.80357	0.878000	0.50629	0.265000	0.18515	1.931000	0.55961	0.491000	0.48974	GAG		PASS	0.617	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		24	47	24	47	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21299686	21299686	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:21299686G>A	ENST00000596143.1	+	5	541	c.216G>A	c.(214-216)ctG>ctA	p.L72L	ZNF714_ENST00000601416.1_Missense_Mutation_p.E79K|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	72					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.L177L(1)|p.L72L(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AAGTGATACTGAGAAGACATG	0.353																																						uc002npo.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(214-216)CTG>CTA		zinc finger protein 714							66.0	66.0	66.0					19																	21299686		2192	4298	6490	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299686G>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.216G>A	19.37:g.21299686G>A						ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.L24L|ZNF714_uc002npn.2_RNA	p.L72L	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			5	576	+			72					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.216G>A	CCDS54239.1																																																																																				PASS	0.353	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		8	53	8	53	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36050025	36050025	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:36050025C>A	ENST00000262623.3	-	8	1153	c.1125G>T	c.(1123-1125)gtG>gtT	p.V375V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	375					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.V375V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCAATGTCTCCACCGCCTCCA	0.597																																						uc002oal.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1123-1125)GTG>GTT		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						239.0	210.0	220.0					19																	36050025		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050025C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1125G>T	19.37:g.36050025C>A						ATP4A_uc010eee.1_5'Flank	p.V375V	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1154	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		375			Cytoplasmic (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.1125G>T	CCDS12467.1																																																																																				PASS	0.597	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	260	7	260	---	---	---	---
LGALS4	3960	broad.mit.edu	37	19	39297206	39297206	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:39297206C>T	ENST00000307751.4	-	4	846	c.369G>A	c.(367-369)gaG>gaA	p.E123E	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	123	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.E123E(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGTGCCCGTACTCATAGAAGG	0.562																																						uc002ojg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(367-369)GAG>GAA		galectin-4							76.0	71.0	73.0					19																	39297206		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39297206C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.369G>A	19.37:g.39297206C>T						LGALS4_uc010xuj.1_Silent_p.E123E	p.E123E	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		4	583	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		123			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.369G>A	CCDS12521.1																																																																																				PASS	0.562	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		28	22	28	22	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44223137	44223137	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:44223137C>G	ENST00000244314.5	+	2	626	c.427C>G	c.(427-429)Cgc>Ggc	p.R143G		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	143	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.R143G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTCTCCCCCCGCCGCTGCGG	0.652																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(427-429)CGC>GGC		immunity-related GTPase family, cinema																																				SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44223137C>G	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.427C>G	19.37:g.44223137C>G	ENSP00000244314:p.Arg143Gly						p.R143G	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	574	+		Prostate(69;0.0435)	143					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.427C>G	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722365	0.15439	.	.	ENSG00000124449	ENST00000244314	T	0.10668	2.85	5.71	2.32	0.28847	.	0.807371	0.11375	N	0.570445	T	0.05227	0.0139	N	0.03154	-0.405	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.36744	-0.9735	10	0.59425	D	0.04	.	7.7301	0.28781	0.0:0.7145:0.1338:0.1516	.	143	Q6NXR0	IIGP5_HUMAN	G	143	ENSP00000244314:R143G	ENSP00000244314:R143G	R	+	1	0	IRGC	48914977	0.003000	0.15002	0.003000	0.11579	0.486000	0.33341	0.637000	0.24659	0.786000	0.33708	0.555000	0.69702	CGC		PASS	0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		3	3	3	3	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47883023	47883023	+	Silent	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:47883023G>T	ENST00000328771.4	+	14	3112	c.2763G>T	c.(2761-2763)gtG>gtT	p.V921V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	921					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V921V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCGCCTGGTGGCCGATGGCT	0.632																																						uc010xyn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(2761-2763)GTG>GTT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							74.0	69.0	71.0					19																	47883023		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883023G>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2763G>T	19.37:g.47883023G>T						DHX34_uc010xyo.1_Silent_p.V50V	p.V921V	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3104	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	921					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2763G>T	CCDS12700.1																																																																																				PASS	0.632	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	38	4	38	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49910146	49910146	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:49910146G>A	ENST00000447857.3	+	10	1007	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	268						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G268R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTTCTAGAACGGGAAGCTGCT	0.468																																						uc002pnm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(802-804)GGG>AGG		coiled-coil domain containing 155							49.0	50.0	50.0					19																	49910146		1944	4157	6101	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49910146G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.802G>A	19.37:g.49910146G>A	ENSP00000404220:p.Gly268Arg					CCDC155_uc010emx.1_Missense_Mutation_p.G241R	p.G268R	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			10	976	+			268			Potential.		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.802G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668860	0.14776	.	.	ENSG00000161609	ENST00000447857	T	0.33216	1.42	5.39	4.36	0.52297	.	0.581244	0.16017	N	0.233495	T	0.22244	0.0536	L	0.35723	1.085	0.22435	N	0.999101	B;B	0.25521	0.128;0.128	B;B	0.23419	0.046;0.046	T	0.18587	-1.0332	10	0.12103	T	0.63	-7.2373	10.6794	0.45804	0.089:0.0:0.911:0.0	.	268;268	C9JGW3;Q8N6L0	.;CC155_HUMAN	R	268	ENSP00000404220:G268R	ENSP00000404220:G268R	G	+	1	0	CCDC155	54601958	0.989000	0.36119	0.961000	0.40146	0.041000	0.13682	2.262000	0.43285	1.454000	0.47793	-0.143000	0.13931	GGG		PASS	0.468	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		5	19	5	19	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51323551	51323551	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:51323551G>T	ENST00000301420.2	-	3	390	c.355C>A	c.(355-357)Cac>Aac	p.H119N	KLK1_ENST00000448701.2_Missense_Mutation_p.H17N|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	119	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.H119N(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	ATGAGGTCGTGGCTGTAGTCC	0.587																																						uc002ptk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CAC>AAC		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						166.0	140.0	149.0					19																	51323551		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51323551G>T	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.355C>A	19.37:g.51323551G>T	ENSP00000301420:p.His119Asn					KLK1_uc010ycg.1_RNA	p.H119N	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	3	394	-		all_neural(266;0.0199)	119			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.355C>A	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	g	0.557	-0.846841	0.02671	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	T;T	0.51574	3.6;0.7	3.17	-0.524	0.11920	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.17789	0.0427	N	0.01431	-0.87	0.20821	N	0.999847	B	0.21381	0.055	B	0.36464	0.225	T	0.40979	-0.9534	9	0.02654	T	1	.	3.7083	0.08410	0.1309:0.0:0.4186:0.4505	.	119	P06870	KLK1_HUMAN	N	119;17	ENSP00000301420:H119N;ENSP00000400994:H17N	ENSP00000301420:H119N	H	-	1	0	KLK1	56015363	0.994000	0.37717	0.888000	0.34837	0.016000	0.09150	0.248000	0.18198	-0.010000	0.14271	0.313000	0.20887	CAC		PASS	0.587	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		5	77	5	77	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52003549	52003549	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:52003549G>T	ENST00000291707.3	-	2	488	c.433C>A	c.(433-435)Cag>Aag	p.Q145K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q27K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	145	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q145K(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTAGGTCCTGGGACGCTGTG	0.592																																						uc002pwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(433-435)CAG>AAG		sialic acid binding immunoglobulin-like							66.0	60.0	62.0					19																	52003549		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003549G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.433C>A	19.37:g.52003549G>T	ENSP00000291707:p.Gln145Lys					SIGLEC12_uc002pww.1_Missense_Mutation_p.Q27K|SIGLEC12_uc010eoy.1_Intron	p.Q145K	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	489	-		all_neural(266;0.0199)	145			Ig-like V-type 2.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.433C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.106	-1.145714	0.01714	.	.	ENSG00000254521	ENST00000291707	T	0.37915	1.17	0.716	0.716	0.18191	.	.	.	.	.	T	0.20740	0.0499	L	0.47190	1.495	0.09310	N	1	B;B	0.31879	0.033;0.344	B;B	0.24541	0.024;0.054	T	0.21861	-1.0233	9	0.05959	T	0.93	.	4.8059	0.13319	0.0:0.0:1.0:0.0	.	145;27	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	K	145	ENSP00000291707:Q145K	ENSP00000291707:Q145K	Q	-	1	0	SIGLEC12	56695361	0.482000	0.25948	0.002000	0.10522	0.016000	0.09150	0.798000	0.27014	0.695000	0.31675	0.392000	0.25879	CAG		PASS	0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		17	34	17	34	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52520455	52520455	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:52520455C>G	ENST00000270649.6	-	5	940	c.396G>C	c.(394-396)ttG>ttC	p.L132F	ZNF614_ENST00000356322.6_Missense_Mutation_p.L132F	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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)	p.L132F(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTTTCTGTACAAGTCAAATG	0.338																																						uc002pyj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(394-396)TTG>TTC		zinc finger protein 614							86.0	82.0	84.0					19																	52520455		2203	4299	6502	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520455C>G	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.396G>C	19.37:g.52520455C>G	ENSP00000270649:p.Leu132Phe					ZNF614_uc002pyi.3_Missense_Mutation_p.L132F|ZNF614_uc010epj.2_5'UTR	p.L132F	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	798	-		all_neural(266;0.0505)	132					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.396G>C	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884243	0.17467	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07216	5.92;3.21	3.61	-3.72	0.04411	.	.	.	.	.	T	0.06234	0.0161	L	0.39245	1.2	0.09310	N	1	B;P	0.36753	0.246;0.568	B;B	0.38985	0.066;0.287	T	0.28681	-1.0036	9	0.51188	T	0.08	.	1.4231	0.02317	0.1497:0.316:0.3043:0.23	.	132;132	Q8N883;Q9BSN8	ZN614_HUMAN;.	F	132	ENSP00000348674:L132F;ENSP00000270649:L132F	ENSP00000270649:L132F	L	-	3	2	ZNF614	57212267	0.001000	0.12720	0.014000	0.15608	0.267000	0.26476	-1.024000	0.03603	-0.664000	0.05324	-0.469000	0.05056	TTG		PASS	0.338	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		7	20	7	20	---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53912075	53912075	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:53912075C>A	ENST00000396408.3	+	4	1384	c.1267C>A	c.(1267-1269)Cag>Aag	p.Q423K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	423					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.Q423K(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTTCAATCAGCAGTTAACCCT	0.373																																						uc010ydx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)CAG>AAG		zinc finger protein 765							85.0	89.0	88.0					19																	53912075		2203	4299	6502	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912075C>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1267C>A	19.37:g.53912075C>A	ENSP00000379689:p.Gln423Lys					ZNF765_uc002qbm.2_Missense_Mutation_p.Q423K|ZNF765_uc002qbn.2_Intron	p.Q423K	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1594	+			423			C2H2-type 8; atypical.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1267C>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.258255	0.00021	.	.	ENSG00000196417	ENST00000396408	T	0.06933	3.24	1.01	-2.02	0.07388	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.01618	-0.8	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	8	.	.	.	.	2.8635	0.05594	0.4469:0.1901:0.0:0.3629	.	423	Q7L2R6	ZN765_HUMAN	K	423	ENSP00000379689:Q423K	.	Q	+	1	0	ZNF765	58603887	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-5.219000	0.00140	-1.544000	0.01721	-1.192000	0.01694	CAG		PASS	0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		53	67	53	67	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54849797	54849797	+	Silent	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:54849797C>A	ENST00000291759.4	-	3	281	c.225G>T	c.(223-225)ctG>ctT	p.L75L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	75	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L75L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTTCAGACTCCAGTGTTTTTA	0.517																																						uc002qfj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(223-225)CTG>CTT		leukocyte immunoglobulin-like receptor subfamily							220.0	167.0	185.0					19																	54849797		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54849797C>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.225G>T	19.37:g.54849797C>A						LILRA4_uc002qfi.2_Silent_p.L9L	p.L75L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	282	-	Ovarian(34;0.19)		75			Ig-like C2-type 1.|Extracellular (Potential).		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.225G>T	CCDS12890.1																																																																																				PASS	0.517	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		6	186	6	186	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55087554	55087554	+	Missense_Mutation	SNP	C	C	A	rs200605637		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:55087554C>A	ENST00000251377.3	+	7	1366	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D411E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.D411E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D399E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	411	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.D411E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCCCAGTGACCCCCTGGAGC	0.612																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1231-1233)GAC>GAA		leukocyte immunoglobulin-like receptor,							95.0	86.0	89.0					19																	55087554		2203	4300	6503	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087554C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1233C>A	19.37:g.55087554C>A	ENSP00000251377:p.Asp411Glu					LILRA2_uc010ern.2_Missense_Mutation_p.D411E|LILRA2_uc002qgf.2_Missense_Mutation_p.D411E|LILRA2_uc010yfe.1_Missense_Mutation_p.D411E|LILRA2_uc010yff.1_Missense_Mutation_p.D399E|LILRA2_uc010ero.2_Missense_Mutation_p.D399E|LILRA2_uc010yfg.1_Intron	p.D411E	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1322	+			411			Ig-like C2-type 4.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.1233C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	1.207	-0.630914	0.03584	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00902	5.56;5.56;5.56;5.56	2.42	-4.84	0.03151	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.815830	0.03542	N	0.224068	T	0.00967	0.0032	L	0.43646	1.37	0.09310	N	1	B;B;B	0.17038	0.002;0.002;0.02	B;B;B	0.25291	0.007;0.012;0.059	T	0.48068	-0.9067	10	0.19590	T	0.45	.	1.7368	0.02944	0.1919:0.2914:0.3791:0.1376	.	399;411;411	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	E	411;411;411;399	ENSP00000251377:D411E;ENSP00000375618:D411E;ENSP00000251376:D411E;ENSP00000375617:D399E	ENSP00000251376:D411E	D	+	3	2	LILRA2	59779366	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.063000	0.03465	-1.147000	0.02851	0.508000	0.49915	GAC		PASS	0.612	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			113	120	113	120	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55813535	55813535	+	Splice_Site	SNP	C	C	T	rs549853359		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:55813535C>T	ENST00000309383.1	+	9	1133	c.856C>T	c.(856-858)Cta>Tta	p.L286L	BRSK1_ENST00000326848.7_5'Flank|BRSK1_ENST00000590333.1_Splice_Site_p.L302L|BRSK1_ENST00000585418.1_Splice_Site_p.L286L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	286					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L286L(2)|p.L286I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTTGGTACCTGTGAGTATG	0.562											OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		15211	0.0		0.0	False		,,,				2504	0.001					uc002qkg.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(856-858)CTA>TTA		BR serine/threonine kinase 1							203.0	210.0	208.0					19																	55813535		2203	4300	6503	SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55813535C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.857+1C>T	19.37:g.55813535C>T			OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	BRSK1_uc002qkf.2_Silent_p.L302L|BRSK1_uc002qkh.2_5'UTR	p.L286L	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	9	1133	+		Renal(1328;0.245)	286					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.856C>T	CCDS12921.1																																																																																				PASS	0.562	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Silent	101	374	101	374	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56297101	56297101	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:56297101G>T	ENST00000589093.1	-	10	3085	c.2992C>A	c.(2992-2994)Cag>Aag	p.Q998K	NLRP11_ENST00000589824.2_Missense_Mutation_p.Q944K|NLRP11_ENST00000360133.3_Missense_Mutation_p.Q944K|NLRP11_ENST00000592953.1_Missense_Mutation_p.Q899K|NLRP11_ENST00000443188.1_Missense_Mutation_p.Q998K			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	998							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.Q998K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACCTGGCTGAGAAGCAGGT	0.393																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2992-2994)CAG>AAG		NLR family, pyrin domain containing 11							100.0	97.0	98.0					19																	56297101		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56297101G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2992C>A	19.37:g.56297101G>T	ENSP00000466285:p.Gln998Lys					NLRP11_uc002qlz.2_Missense_Mutation_p.Q845K|NLRP11_uc002qmb.2_Missense_Mutation_p.Q899K|NLRP11_uc002qmc.2_RNA	p.Q998K	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	12	3703	-		Colorectal(82;0.0002)	998					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2992C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135172	0.09032	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.73681	-0.77;-0.71	1.4	-2.79	0.05841	.	.	.	.	.	T	0.42154	0.1190	N	0.08118	0	0.09310	N	1	B;B	0.31730	0.228;0.337	B;B	0.24974	0.026;0.057	T	0.27191	-1.0081	9	0.23891	T	0.37	.	0.4908	0.00563	0.1867:0.2445:0.3219:0.2469	.	998;944	P59045;P59045-2	NAL11_HUMAN;.	K	998;944	ENSP00000409898:Q998K;ENSP00000353251:Q944K	ENSP00000353251:Q944K	Q	-	1	0	NLRP11	60988913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.314000	0.08092	-0.752000	0.04728	-1.045000	0.02358	CAG		PASS	0.393	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		5	124	5	124	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640914	57640914	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:57640914G>A	ENST00000254181.4	+	4	1325	c.871G>A	c.(871-873)Gga>Aga	p.G291R	USP29_ENST00000598197.1_Missense_Mutation_p.G291R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	291	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.G291R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCCAATTTGGGAAACACCTG	0.468																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(871-873)GGA>AGA		ubiquitin specific peptidase 29							76.0	73.0	74.0					19																	57640914		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640914G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.871G>A	19.37:g.57640914G>A	ENSP00000254181:p.Gly291Arg						p.G291R	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1227	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	291						Missense_Mutation	SNP	ENST00000254181.4	37	c.871G>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540204	0.65085	.	.	ENSG00000131864	ENST00000254181	T	0.56444	0.46	2.68	2.68	0.31781	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.31697	U	0.007212	T	0.73729	0.3624	M	0.89095	3.005	0.38251	D	0.941618	D	0.89917	1.0	D	0.97110	1.0	T	0.81079	-0.1095	10	0.87932	D	0	-16.0906	11.5415	0.50669	0.0:0.0:1.0:0.0	.	291	Q9HBJ7	UBP29_HUMAN	R	291	ENSP00000254181:G291R	ENSP00000254181:G291R	G	+	1	0	USP29	62332726	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	3.955000	0.56715	1.774000	0.52232	0.585000	0.79938	GGA		PASS	0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			19	41	19	41	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4866555	4866555	+	Splice_Site	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr20:4866555C>A	ENST00000379333.1	-	7	875	c.483G>T	c.(481-483)agG>agT	p.R161S	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Splice_Site_p.R161S	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	161					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R161S(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACAGGGGTAACCTAAAAGAAA	0.443																																						uc002wlg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)AGG>AGT		solute carrier family 23 (nucleobase							73.0	60.0	64.0					20																	4866555		2203	4300	6503	SO:0001630	splice_region_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4866555C>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.483-1G>T	20.37:g.4866555C>A						SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.R161S|SLC23A2_uc002wli.2_Missense_Mutation_p.R160S	p.R161S	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			7	858	-			161					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.483G>T	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831495	0.91036	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.21734	1.99;1.99	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74705	-0.3575	10	0.87932	D	0	.	18.6702	0.91508	0.0:1.0:0.0:0.0	.	161;161	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	S	161	ENSP00000368637:R161S;ENSP00000344322:R161S	ENSP00000344322:R161S	R	-	3	2	SLC23A2	4814555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.016000	0.70798	2.745000	0.94114	0.650000	0.86243	AGG		PASS	0.443	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		Missense_Mutation	9	29	9	29	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18529360	18529360	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr20:18529360C>T	ENST00000336714.3	+	16	2283	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	AL121893.1_ENST00000578930.1_RNA|SEC23B_ENST00000377465.1_Silent_p.S617S|SEC23B_ENST00000377475.3_Silent_p.S617S|SEC23B_ENST00000262544.2_Silent_p.S617S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	617					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.S617S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGACCCAGTCCCTCATCATGA	0.473																																						uc002wqz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1849-1851)TCC>TCT		Sec23 homolog B							140.0	117.0	125.0					20																	18529360		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18529360C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1851C>T	20.37:g.18529360C>T						SEC23B_uc002wra.1_Silent_p.S617S|SEC23B_uc002wrb.1_Silent_p.S617S|SEC23B_uc010zsb.1_Silent_p.S599S|SEC23B_uc002wrc.1_Silent_p.S617S	p.S617S	NM_006363	NP_006354	Q15437	SC23B_HUMAN			16	2294	+			617					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.1851C>T	CCDS13137.1																																																																																				PASS	0.473	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			5	41	5	41	---	---	---	---
PPDPF	79144	broad.mit.edu	37	20	62153023	62153023	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr20:62153023C>G	ENST00000370179.3	+	4	332	c.136C>G	c.(136-138)Ctc>Gtc	p.L46V	PPDPF_ENST00000370177.1_Missense_Mutation_p.L72V|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.L46V(1)		kidney(1)|lung(2)|ovary(1)	4						TCTCTCAGGTCTCCCCAAGGC	0.632																																						uc002yff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CTC>GTC		pancreatic progenitor cell differentiation and							68.0	70.0	69.0					20																	62153023		2203	4300	6503	SO:0001583	missense	79144				cell differentiation|multicellular organismal development			g.chr20:62153023C>G	AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"""exocrine differentiation and proliferation factor"""		"""chromosome 20 open reading frame 149"", ""pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"""	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.136C>G	20.37:g.62153023C>G	ENSP00000359198:p.Leu46Val						p.L46V	NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN			4	276	+			46					E1P5J2|Q4VXP1|Q9H3Y7	Missense_Mutation	SNP	ENST00000370179.3	37	c.136C>G	CCDS13523.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.194770	0.38806	.	.	ENSG00000125534	ENST00000370179;ENST00000370178;ENST00000370177	.	.	.	4.67	2.72	0.32119	.	0.133062	0.51477	D	0.000086	T	0.55146	0.1902	M	0.79926	2.475	0.44736	D	0.997737	P	0.47545	0.897	B	0.39152	0.292	T	0.58601	-0.7608	9	0.72032	D	0.01	-17.7145	9.0378	0.36298	0.1471:0.7743:0.0:0.0786	.	46	Q9H3Y8	PPDPF_HUMAN	V	46;46;72	.	ENSP00000359196:L72V	L	+	1	0	PPDPF	61623467	1.000000	0.71417	0.482000	0.27366	0.040000	0.13550	2.707000	0.47143	0.401000	0.25424	-0.840000	0.03056	CTC		PASS	0.632	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			5	39	5	39	---	---	---	---
CLDN8	9073	broad.mit.edu	37	21	31588225	31588225	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr21:31588225C>G	ENST00000399899.1	-	1	166	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	CLDN8_ENST00000286809.1_Missense_Mutation_p.E7Q	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	7					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.E7*(1)|p.E7Q(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CCAGCGATTTCTAAGGCATGG	0.512																																						uc002ynu.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)		0						c.(19-21)GAA>CAA		claudin 8							69.0	62.0	64.0					21																	31588225		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31588225C>G	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.19G>C	21.37:g.31588225C>G	ENSP00000382783:p.Glu7Gln						p.E7Q	NM_199328	NP_955360	P56748	CLD8_HUMAN			1	94	-			7			Cytoplasmic (Potential).		D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.19G>C	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.771530	0.00645	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.87650	-2.28;-2.28	5.17	4.28	0.50868	.	0.118364	0.56097	N	0.000022	T	0.60196	0.2250	N	0.00315	-1.66	0.40119	D	0.976572	B	0.12630	0.006	B	0.12156	0.007	T	0.66160	-0.5993	10	0.02654	T	1	.	15.91	0.79467	0.0:0.1377:0.8623:0.0	.	7	P56748	CLD8_HUMAN	Q	7	ENSP00000382783:E7Q;ENSP00000286809:E7Q	ENSP00000286809:E7Q	E	-	1	0	CLDN8	30510096	1.000000	0.71417	0.519000	0.27824	0.050000	0.14768	1.440000	0.35024	1.548000	0.49413	-0.153000	0.13522	GAA		PASS	0.512	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		10	37	10	37	---	---	---	---
KRTAP19-3	337970	broad.mit.edu	37	21	31864183	31864183	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr21:31864183G>A	ENST00000334063.4	-	1	92	c.93C>T	c.(91-93)agC>agT	p.S31S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	31						intermediate filament (GO:0005882)		p.S31S(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GTCTGCGGAAGCTGCCACATC	0.577																																						uc002yog.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(91-93)AGC>AGT		keratin associated protein 19-3							156.0	159.0	158.0					21																	31864183		2203	4300	6503	SO:0001819	synonymous_variant	337970					intermediate filament		g.chr21:31864183G>A	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.93C>T	21.37:g.31864183G>A							p.S31S	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			1	93	-			31						Silent	SNP	ENST00000334063.4	37	c.93C>T	CCDS13596.1																																																																																				PASS	0.577	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			39	119	39	119	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46897366	46897366	+	Missense_Mutation	SNP	G	G	T	rs375058072		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr21:46897366G>T	ENST00000359759.4	+	6	2236	c.2215G>T	c.(2215-2217)Ggg>Tgg	p.G739W	COL18A1_ENST00000400337.2_Missense_Mutation_p.G324W|COL18A1_ENST00000355480.5_Missense_Mutation_p.G504W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	739	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.G504W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CACGTGGGACGGGAGTGTCCG	0.642																																						uc011afs.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2215-2217)GGG>TGG		alpha 1 type XVIII collagen isoform 3 precursor							40.0	43.0	42.0					21																	46897366		1975	4153	6128	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46897366G>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2215G>T	21.37:g.46897366G>T	ENSP00000352798:p.Gly739Trp					COL18A1_uc002zhg.2_Missense_Mutation_p.G324W|COL18A1_uc002zhi.2_Missense_Mutation_p.G504W	p.G739W	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	6	2236	+			739			Nonhelical region 1 (NC1).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2215G>T		.	.	.	.	.	.	.	.	.	.	G	10.31	1.314808	0.23908	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.91068	-2.75;-2.78;-2.67	2.67	-1.63	0.08345	.	1.760990	0.03652	U	0.241121	D	0.94791	0.8318	M	0.88640	2.97	0.09310	N	1	D;D;D	0.67145	0.993;0.996;0.991	P;P;P	0.60541	0.756;0.876;0.824	T	0.83200	-0.0079	10	0.87932	D	0	.	6.9678	0.24632	0.5283:0.0:0.4717:0.0	.	739;504;324	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	W	324;324;504;739;739	ENSP00000383191:G324W;ENSP00000347665:G504W;ENSP00000352798:G739W	ENSP00000347665:G504W	G	+	1	0	COL18A1	45721794	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.161000	0.16481	-0.404000	0.07610	0.479000	0.44913	GGG		PASS	0.642	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			3	6	3	6	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47754536	47754536	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr21:47754536C>A	ENST00000359568.5	+	3	600	c.493C>A	c.(493-495)Cca>Aca	p.P165T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	165					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P165T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGTGACCACCCACCAGAACA	0.547																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(493-495)CCA>ACA		pericentrin							203.0	129.0	154.0					21																	47754536		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754536C>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.493C>A	21.37:g.47754536C>A	ENSP00000352572:p.Pro165Thr					PCNT_uc002zjj.2_Missense_Mutation_p.P47T|PCNT_uc010gqk.1_RNA	p.P165T	NM_006031	NP_006022	O95613	PCNT_HUMAN			3	600	+	Breast(49;0.112)		165					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.493C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	c	0.033	-1.325072	0.01309	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.02032	4.49	0.235	0.235	0.15431	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.001	T	0.48790	-0.9004	8	0.09590	T	0.72	.	.	.	.	.	47;165	O95613-2;O95613	.;PCNT_HUMAN	T	165;152	ENSP00000352572:P165T	ENSP00000338675:P152T	P	+	1	0	PCNT	46578964	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.004000	0.29822	0.308000	0.22923	0.313000	0.20887	CCA		PASS	0.547	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	80	5	80	---	---	---	---
SLC25A18	83733	broad.mit.edu	37	22	18064177	18064177	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:18064177G>A	ENST00000327451.6	+	5	735	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	SLC25A18_ENST00000399813.1_Missense_Mutation_p.R66Q|SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	66						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.R66Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GGCATGTACCGAGGTGGGCTT	0.637																																					Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CGA>CAA		solute carrier	L-Glutamic Acid(DB00142)						87.0	83.0	85.0					22																	18064177		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18064177G>A	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.197G>A	22.37:g.18064177G>A	ENSP00000329033:p.Arg66Gln					SLC25A18_uc010gqx.2_Missense_Mutation_p.R66Q|SLC25A18_uc002zmq.1_Missense_Mutation_p.R66Q	p.R66Q	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	5	691	+			66			Solcar 1.|Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000327451.6	37	c.197G>A	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316252	0.81469	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	D;D	0.81659	-1.52;-1.52	5.36	3.25	0.37280	Mitochondrial carrier domain (2);	0.061070	0.64402	D	0.000003	T	0.81969	0.4935	M	0.73217	2.22	0.52501	D	0.999959	B	0.24963	0.115	B	0.38428	0.273	T	0.79818	-0.1643	10	0.59425	D	0.04	-34.7552	11.4075	0.49906	0.1522:0.0:0.8478:0.0	.	66	Q9H1K4	GHC2_HUMAN	Q	66	ENSP00000329033:R66Q;ENSP00000382710:R66Q	ENSP00000329033:R66Q	R	+	2	0	SLC25A18	16444177	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.927000	0.63440	0.736000	0.32559	0.655000	0.94253	CGA		PASS	0.637	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		20	45	20	45	---	---	---	---
TCN2	6948	broad.mit.edu	37	22	31003382	31003382	+	Splice_Site	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:31003382G>T	ENST00000215838.3	+	1	558	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	PES1_ENST00000405677.1_5'Flank|RP1-56J10.8_ENST00000432130.1_RNA|PES1_ENST00000402281.1_5'Flank|PES1_ENST00000492986.1_5'Flank|TCN2_ENST00000405742.3_Splice_Site_p.E22*|TCN2_ENST00000407817.3_Splice_Site_p.E22*			P20062	TCO2_HUMAN	transcobalamin II	22					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.E22*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGATGTGTGGTGAGTAACT	0.592																																						uc003aip.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(64-66)GAA>TAA		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						100.0	99.0	99.0					22																	31003382		2203	4300	6503	SO:0001630	splice_region_variant	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31003382G>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.64+1G>T	22.37:g.31003382G>T						PES1_uc003ain.1_5'Flank|PES1_uc003aio.1_5'Flank|TCN2_uc003aiq.1_Nonsense_Mutation_p.E22*|TCN2_uc003air.1_Nonsense_Mutation_p.E22*	p.E22*	NM_000355	NP_000346	P20062	TCO2_HUMAN			1	222	+			22					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Nonsense_Mutation	SNP	ENST00000215838.3	37	c.64G>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	38	7.133331	0.98085	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	.	.	.	4.54	3.46	0.39613	.	0.458122	0.24120	N	0.041368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.1025	7.6411	0.28294	0.126:0.0:0.874:0.0	.	.	.	.	X	22	.	ENSP00000215838:E22X	E	+	1	0	TCN2	29333382	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	0.867000	0.27968	1.382000	0.46385	0.563000	0.77884	GAA		PASS	0.592	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355	Nonsense_Mutation	5	29	5	29	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32241209	32241209	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:32241209G>T	ENST00000382112.3	+	29	3050	c.2980G>T	c.(2980-2982)Gat>Tat	p.D994Y	DEPDC5_ENST00000400248.2_Missense_Mutation_p.D994Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D1003Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D925Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D994Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D1003Y|DEPDC5_ENST00000400246.1_Missense_Mutation_p.D1003Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D925Y	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1003					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.D994Y(1)|p.D925Y(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCATCGCTCGGATCGCATGAT	0.607																																						uc003als.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2980-2982)GAT>TAT		DEP domain containing 5 isoform 1							38.0	43.0	41.0					22																	32241209		2121	4232	6353	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32241209G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2980G>T	22.37:g.32241209G>T	ENSP00000371546:p.Asp994Tyr					DEPDC5_uc011als.1_Missense_Mutation_p.D925Y|DEPDC5_uc011alu.1_Missense_Mutation_p.D1003Y|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.D994Y|DEPDC5_uc003alu.2_Missense_Mutation_p.D443Y|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.D324Y|DEPDC5_uc003alw.2_Missense_Mutation_p.D292Y|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	p.D994Y	NM_014662	NP_055477	O75140	DEPD5_HUMAN			30	3122	+			994					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2980G>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.542015|4.542015	0.85917|0.85917	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T;T;T|.	0.34072|.	1.42;1.85;1.85;1.83;1.38;1.85;1.83;1.85|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57403|0.57403	0.2051|0.2051	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;0.999;0.998;0.997;0.996|.	D;D;D;D;D;P|.	0.91635|.	0.999;0.923;0.969;0.935;0.923;0.887|.	T|T	0.52540|0.52540	-0.8562|-0.8562	10|5	0.62326|.	D|.	0.03|.	.|.	17.9339|17.9339	0.89007|0.89007	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	324;1003;925;1003;994;994|.	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;DEPD5_HUMAN|.	Y|V	925;1003;994;925;1003;925;994;1003;994|400	ENSP00000440210:D925Y;ENSP00000266091:D1003Y;ENSP00000383108:D994Y;ENSP00000383105:D1003Y;ENSP00000371539:D925Y;ENSP00000371546:D994Y;ENSP00000371545:D1003Y;ENSP00000383107:D994Y|.	ENSP00000266091:D1003Y|.	D|G	+|+	1|2	0|0	DEPDC5|DEPDC5	30571209|30571209	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.913000|0.913000	0.54294|0.54294	8.988000|8.988000	0.93501|0.93501	2.487000|2.487000	0.83934|0.83934	0.558000|0.558000	0.71614|0.71614	GAT|GGA		PASS	0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		8	17	8	17	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32477933	32477933	+	Silent	SNP	A	A	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:32477933A>G	ENST00000266088.4	+	6	808	c.558A>G	c.(556-558)gcA>gcG	p.A186A	SLC5A1_ENST00000543737.1_Silent_p.A59A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	186					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A186A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCTTATTGGCAATCACTGCCC	0.478																																						uc003amc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(556-558)GCA>GCG		solute carrier family 5 (sodium/glucose							142.0	128.0	133.0					22																	32477933		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32477933A>G		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.558A>G	22.37:g.32477933A>G						SLC5A1_uc011alz.1_Silent_p.A59A	p.A186A	NM_000343	NP_000334	P13866	SC5A1_HUMAN			6	790	+			186			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.558A>G	CCDS13902.1																																																																																				PASS	0.478	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		12	67	12	67	---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37707538	37707538	+	Silent	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:37707538G>A	ENST00000248901.6	+	11	1114	c.927G>A	c.(925-927)tcG>tcA	p.S309S		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	309	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.S309S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGAACCTCTCGGTGCAGAAGG	0.562																																						uc003arf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(925-927)TCG>TCA		cytohesin 4							73.0	73.0	73.0					22																	37707538		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707538G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.927G>A	22.37:g.37707538G>A						CYTH4_uc011amw.1_Silent_p.S252S|CYTH4_uc010gxe.2_Intron	p.S309S	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			11	1043	+			309			PH.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.927G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	0.747	-0.774149	0.02951	.	.	ENSG00000100055	ENST00000446506	.	.	.	4.41	-8.83	0.00806	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.42913	D	0.994261	.	.	.	.	.	.	T	0.58679	-0.7594	4	.	.	.	.	1.5136	0.02501	0.093:0.2702:0.2599:0.3769	.	.	.	.	S	62	.	.	G	+	1	0	CYTH4	36037484	0.000000	0.05858	0.071000	0.20095	0.272000	0.26649	-9.017000	0.00014	-5.420000	0.00015	-2.166000	0.00325	GGT		PASS	0.562	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			11	32	11	32	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50662625	50662625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr22:50662625G>A	ENST00000248846.5	-	13	2319	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*	TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R739*|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	739					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R739*(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGTCTCGGAGTTCACGG	0.627																																						uc003bkb.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2215-2217)CGA>TGA		tubulin, gamma complex associated protein 6							49.0	50.0	50.0					22																	50662625		2203	4300	6503	SO:0001587	stop_gained	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50662625G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2215C>T	22.37:g.50662625G>A	ENSP00000248846:p.Arg739*					TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Nonsense_Mutation_p.R739*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Nonsense_Mutation_p.R93*	p.R739*	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	13	2727	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	739					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	c.2215C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	45	11.299588	0.99543	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.12	4.07	0.47477	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9672	0.58492	0.0:0.0:0.6452:0.3547	.	.	.	.	X	739	.	ENSP00000248846:R739X	R	-	1	2	TUBGCP6	49004752	1.000000	0.71417	0.954000	0.39281	0.963000	0.63663	2.324000	0.43831	1.102000	0.41551	0.561000	0.74099	CGA		PASS	0.627	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		12	33	12	33	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1424405	1424405	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:1424405T>A	ENST00000381524.3	+	12	1296	c.1110T>A	c.(1108-1110)caT>caA	p.H370Q	CSF2RA_ENST00000381509.3_Missense_Mutation_p.H370Q|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.H237Q|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.H370Q|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.H404Q|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.H370Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	370					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.H370Q(2)		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)	ATGATAACCATGAGGTGGAAG	0.552																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1108-1110)CAT>CAA		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						188.0	167.0	174.0					X																	1424405		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1424405T>A	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.1110T>A	X.37:g.1424405T>A	ENSP00000370935:p.His370Gln					CSF2RA_uc011mhb.1_Missense_Mutation_p.H370Q|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.H370Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.H370Q|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.H237Q|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.H404Q|CSF2RA_uc004cpr.2_3'UTR	p.H370Q	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			13	1432	+		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)	370			Cytoplasmic (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.1110T>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.084	-1.178671	0.01633	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	0.598	-1.2	0.09554	.	1.160740	0.07084	N	0.837604	T	0.15219	0.0367	.	.	.	0.09310	N	1	B;B;B	0.14438	0.01;0.0;0.006	B;B;B	0.06405	0.002;0.0;0.001	T	0.25847	-1.0120	8	0.08837	T	0.75	.	.	.	.	.	370;404;370	P15509-2;A7J003;P15509	.;.;CSF2R_HUMAN	Q	370;370;237;370;370;404	ENSP00000370940:H370Q;ENSP00000416437:H370Q;ENSP00000440491:H237Q;ENSP00000370935:H370Q;ENSP00000370920:H370Q;ENSP00000394227:H404Q	ENSP00000370920:H370Q	H	+	3	2	CSF2RA	1384405	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-1.462000	0.02364	-0.440000	0.07211	0.093000	0.15507	CAT		PASS	0.552	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			7	197	7	197	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811256	5811256	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:5811256G>C	ENST00000381095.3	-	6	2680	c.2053C>G	c.(2053-2055)Ctc>Gtc	p.L685V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.L685V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L685V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L685V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L705V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	685					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.L685V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGAAGAGGAGCGACGCCCCG	0.532																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2053-2055)CTC>GTC		X-linked neuroligin 4 precursor							110.0	98.0	102.0					X																	5811256		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811256G>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2053C>G	X.37:g.5811256G>C	ENSP00000370485:p.Leu685Val					NLGN4X_uc004crp.2_Missense_Mutation_p.L705V|NLGN4X_uc004crq.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndi.2_Missense_Mutation_p.L722V|NLGN4X_uc004crr.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndj.2_Missense_Mutation_p.L685V	p.L685V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2554	-			685			Helical; (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2053C>G	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304073	0.23736	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	3.82	-4.39	0.03611	.	0.000000	0.28853	N	0.013933	D	0.85919	0.5809	M	0.85630	2.765	0.29023	N	0.886176	D;D;D	0.63046	0.987;0.987;0.992	P;P;P	0.60886	0.762;0.762;0.88	T	0.83027	-0.0164	10	0.87932	D	0	.	11.1584	0.48501	0.6825:0.0:0.3175:0.0	.	742;685;705	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	685;705;685;685;685	ENSP00000370485:L685V;ENSP00000370483:L705V;ENSP00000275857:L685V;ENSP00000370482:L685V;ENSP00000439203:L685V	ENSP00000275857:L685V	L	-	1	0	NLGN4X	5821256	0.777000	0.28628	0.000000	0.03702	0.161000	0.22273	0.848000	0.27710	-1.154000	0.02825	0.513000	0.50165	CTC		PASS	0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		44	23	44	23	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47308087	47308088	+	Missense_Mutation	DNP	CC	CC	AA	rs377379693		TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:47308087_47308088CC>AA	ENST00000377065.4	-	5	1720_1721	c.1081_1082GG>TT	c.(1081-1083)GGa>TTa	p.G361L	ZNF41_ENST00000397050.2_Missense_Mutation_p.G371L|ZNF41_ENST00000313116.7_Missense_Mutation_p.G361L|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	403					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.G361*(1)|p.G361V(1)|p.G361L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AAAGGCTTTTCCACATTCACTG	0.401																																						uc004dhs.3																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(3)	3						c.(1207-1209)GGA>GTA|c.(1207-1209)GGA>TGA		zinc finger protein 41																																				SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308087C>A|g.chrX:47308088C>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1081_1082delinsAA	X.37:g.47308087_47308088delinsAA	ENSP00000366265:p.Gly361Leu					ZNF41_uc004dhu.3_Missense_Mutation_p.G395V|ZNF41_uc004dht.3_Missense_Mutation_p.G275V|ZNF41_uc004dhv.3_Missense_Mutation_p.G371V|ZNF41_uc004dhw.3_Missense_Mutation_p.G363V|ZNF41_uc004dhy.3_Missense_Mutation_p.G361V|ZNF41_uc004dhx.3_Missense_Mutation_p.G361V|ZNF41_uc011mlm.1_Missense_Mutation_p.G275V|ZNF41_uc004dhu.3_Nonsense_Mutation_p.G395*|ZNF41_uc004dht.3_Nonsense_Mutation_p.G275*|ZNF41_uc004dhv.3_Nonsense_Mutation_p.G371*|ZNF41_uc004dhw.3_Nonsense_Mutation_p.G363*|ZNF41_uc004dhy.3_Nonsense_Mutation_p.G361*|ZNF41_uc004dhx.3_Nonsense_Mutation_p.G361*|ZNF41_uc011mlm.1_Nonsense_Mutation_p.G275*	p.G403V|p.G403*	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1275|1274	-		all_lung(315;0.000129)	403			C2H2-type 4.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000377065.4	37	c.1208G>T|c.1207G>T	CCDS14279.1																																																																																				PASS	0.401	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		8	22	8	22	---	---	---	---
XAGE3	170626	broad.mit.edu	37	X	52893869	52893869	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:52893869C>G	ENST00000346279.3	-	4	318	c.248G>C	c.(247-249)gGa>gCa	p.G83A	XAGE3_ENST00000375491.3_Missense_Mutation_p.G83A	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	83								p.G83A(1)		kidney(1)|large_intestine(1)|lung(2)	4						AGGACCATTTCCACATTCACC	0.433																																						uc004dre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GGA>GCA		XAGE-3 protein							86.0	76.0	79.0					X																	52893869		2203	4300	6503	SO:0001583	missense	170626							g.chrX:52893869C>G	BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 3a"", ""cancer/testis antigen family 12, member 3b"""	300740	"""placenta-specific 6; G antigen, family D, 4"""	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.248G>C	X.37:g.52893869C>G	ENSP00000303061:p.Gly83Ala					XAGE3_uc004drf.2_Missense_Mutation_p.G83A	p.G83A	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN			4	308	-			83					Q5JS82|Q8WYS9	Missense_Mutation	SNP	ENST00000346279.3	37	c.248G>C	CCDS14347.1	.	.	.	.	.	.	.	.	.	.	c	8.350	0.830638	0.16820	.	.	ENSG00000171402	ENST00000375491;ENST00000346279	T;T	0.14266	2.52;2.52	1.09	0.18	0.15068	.	.	.	.	.	T	0.19967	0.0480	M	0.84082	2.675	0.09310	N	1	P	0.47677	0.899	P	0.45971	0.499	T	0.13335	-1.0513	9	0.56958	D	0.05	.	3.3495	0.07147	0.0:0.6962:0.0:0.3038	.	83	Q8WTP9	GAGD4_HUMAN	A	83	ENSP00000364640:G83A;ENSP00000303061:G83A	ENSP00000303061:G83A	G	-	2	0	XAGE3	52910594	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.686000	0.05161	-0.010000	0.14271	0.422000	0.28245	GGA		PASS	0.433	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056686.1	NM_133179		18	28	18	28	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63412922	63412922	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:63412922C>A	ENST00000330258.3	-	2	517	c.245G>T	c.(244-246)gGg>gTg	p.G82V	AMER1_ENST00000374869.3_Missense_Mutation_p.G82V|AMER1_ENST00000403336.1_Missense_Mutation_p.G82V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	82					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.G82V(2)									GCTGCCTTTCCCAGAACCTTT	0.527																																						uc004dvo.2																			69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(244-246)GGG>GTG		family with sequence similarity 123B							126.0	95.0	106.0					X																	63412922		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412922C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.245G>T	X.37:g.63412922C>A	ENSP00000329117:p.Gly82Val						p.G82V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	518	-			82					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.245G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866454	0.51588	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.52526	0.66;0.66;0.66	4.59	4.59	0.56863	.	0.190590	0.46758	D	0.000273	T	0.58047	0.2095	M	0.71036	2.16	0.58432	D	0.99999	D	0.60575	0.988	P	0.50590	0.645	T	0.65573	-0.6135	10	0.87932	D	0	-13.6072	15.8344	0.78787	0.0:1.0:0.0:0.0	.	82	Q5JTC6	F123B_HUMAN	V	82	ENSP00000364003:G82V;ENSP00000329117:G82V;ENSP00000384722:G82V	ENSP00000329117:G82V	G	-	2	0	FAM123B	63329647	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	3.755000	0.55197	2.527000	0.85204	0.600000	0.82982	GGG		PASS	0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		11	17	11	17	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76889176	76889176	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:76889176G>C	ENST00000373344.5	-	18	5048	c.4834C>G	c.(4834-4836)Ctt>Gtt	p.L1612V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1574V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L1612V(2)|p.L1612I(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCACACAAAAGAACTGTATGA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		4	Substitution - Missense(3)|Unknown(1)		lung(2)|large_intestine(1)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4834-4836)CTT>GTT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						41.0	37.0	38.0					X																	76889176		2202	4295	6497	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889176G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4834C>G	X.37:g.76889176G>C	ENSP00000362441:p.Leu1612Val					ATRX_uc004ecq.3_Missense_Mutation_p.L1574V|ATRX_uc004eco.3_Missense_Mutation_p.L1397V	p.L1612V	NM_000489	NP_000480	P46100	ATRX_HUMAN			18	5066	-			1612			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4834C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579047	0.46006	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94417	-3.42;-3.42	5.46	4.37	0.52481	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000022	D	0.96150	0.8745	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	D	0.95564	0.8632	10	0.62326	D	0.03	-6.5529	9.2818	0.37733	0.184:0.0:0.816:0.0	.	1574;1612	P46100-4;P46100	.;ATRX_HUMAN	V	1612;1574	ENSP00000362441:L1612V;ENSP00000378967:L1574V	ENSP00000362441:L1612V	L	-	1	0	ATRX	76775832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.288000	0.65651	2.408000	0.81797	0.594000	0.82650	CTT		PASS	0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	10	11	10	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79282782	79282782	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:79282782C>G	ENST00000373294.5	+	6	854	c.826C>G	c.(826-828)Cct>Gct	p.P276A	TBX22_ENST00000442340.1_Missense_Mutation_p.P156A|TBX22_ENST00000373296.3_Missense_Mutation_p.P276A|TBX22_ENST00000373291.1_Missense_Mutation_p.P156A	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	276					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.P276S(1)|p.P276A(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						AGAAAGAAATCCTTTTGCTAA	0.318																																						uc010nmg.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(826-828)CCT>GCT		T-box 22 isoform 1							35.0	35.0	35.0					X																	79282782		2203	4297	6500	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:79282782C>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.826C>G	X.37:g.79282782C>G	ENSP00000362390:p.Pro276Ala					TBX22_uc004edi.1_Missense_Mutation_p.P156A|TBX22_uc004edj.1_Missense_Mutation_p.P276A	p.P276A	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			7	960	+			276			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.826C>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882796	0.72410	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	3.75	3.75	0.43078	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.97043	0.9034	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98158	1.0445	10	0.87932	D	0	.	13.7124	0.62675	0.0:1.0:0.0:0.0	.	276	Q9Y458	TBX22_HUMAN	A	276;156;276;156	ENSP00000362393:P276A;ENSP00000396394:P156A;ENSP00000362390:P276A;ENSP00000362388:P156A	ENSP00000362388:P156A	P	+	1	0	TBX22	79169438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.730000	0.74780	1.857000	0.53885	0.600000	0.82982	CCT		PASS	0.318	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		3	10	3	10	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79971739	79971739	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:79971739C>T	ENST00000373275.4	-	20	2458	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.E748K(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						GTTCGACATTCTTCCTGTACC	0.299																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2242-2244)GAA>AAA		bromodomain and WD repeat domain containing 3							145.0	125.0	132.0					X																	79971739		2202	4298	6500	SO:0001583	missense	254065							g.chrX:79971739C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2242G>A	X.37:g.79971739C>T	ENSP00000362372:p.Glu748Lys					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E344K|BRWD3_uc004edp.2_Missense_Mutation_p.E577K|BRWD3_uc004edq.2_Missense_Mutation_p.E344K|BRWD3_uc010nmj.1_Missense_Mutation_p.E344K|BRWD3_uc004edr.2_Missense_Mutation_p.E418K|BRWD3_uc004eds.2_Missense_Mutation_p.E344K|BRWD3_uc004edu.2_Missense_Mutation_p.E418K|BRWD3_uc004edv.2_Missense_Mutation_p.E344K|BRWD3_uc004edw.2_Missense_Mutation_p.E344K|BRWD3_uc004edx.2_Missense_Mutation_p.E344K|BRWD3_uc004edy.2_Missense_Mutation_p.E344K|BRWD3_uc004edz.2_Missense_Mutation_p.E418K|BRWD3_uc004eea.2_Missense_Mutation_p.E418K|BRWD3_uc004eeb.2_Missense_Mutation_p.E344K	p.E748K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			20	2505	-			748					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2242G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841957	0.51057	.	.	ENSG00000165288	ENST00000373275	T	0.29917	1.55	5.17	5.17	0.71159	.	0.046697	0.85682	D	0.000000	T	0.34366	0.0895	M	0.62016	1.91	0.48288	D	0.999624	B	0.15141	0.012	B	0.17433	0.018	T	0.10405	-1.0631	9	.	.	.	-9.7094	17.8003	0.88585	0.0:1.0:0.0:0.0	.	748	Q6RI45	BRWD3_HUMAN	K	748	ENSP00000362372:E748K	.	E	-	1	0	BRWD3	79858395	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.260000	0.58835	2.391000	0.81399	0.544000	0.68410	GAA		PASS	0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	20	12	20	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128726	83128726	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:83128726C>G	ENST00000329312.4	+	4	1047	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	337					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S336C(1)|p.S337C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATGCTGAATCTGGAGACTCa	0.338																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1009-1011)TCT>TGT		cylicin, basic protein of sperm head							44.0	39.0	41.0					X																	83128726		2195	4296	6491	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128726C>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1010C>G	X.37:g.83128726C>G	ENSP00000331556:p.Ser337Cys					CYLC1_uc004eeh.1_Missense_Mutation_p.S336C	p.S337C	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1031	+			337			2.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1010C>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.989657	0.35131	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.27104	1.69	4.7	4.7	0.59300	.	.	.	.	.	T	0.47469	0.1447	M	0.64170	1.965	0.28778	N	0.899995	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.953	T	0.37526	-0.9702	9	0.72032	D	0.01	-7.8024	11.9657	0.53033	0.0:1.0:0.0:0.0	.	337;337	P35663;F5H4V5	CYLC1_HUMAN;.	C	337	ENSP00000331556:S337C	ENSP00000331556:S337C	S	+	2	0	CYLC1	83015382	0.997000	0.39634	0.919000	0.36401	0.921000	0.55340	1.300000	0.33436	2.310000	0.77875	0.436000	0.28706	TCT		PASS	0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		10	12	10	12	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105152885	105152885	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:105152885C>A	ENST00000243300.9	+	13	1555	c.1252C>A	c.(1252-1254)Cca>Aca	p.P418T	NRK_ENST00000428173.2_Missense_Mutation_p.P419T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	418	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P418T(1)|p.P419T(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTATTCATGCCACTGCAGGC	0.597										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1252-1254)CCA>ACA		Nik related kinase							51.0	53.0	53.0					X																	105152885		2076	4195	6271	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152885C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1252C>A	X.37:g.105152885C>A	ENSP00000434830:p.Pro418Thr	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.P86T	p.P418T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1555	+			418			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1252C>A		.	.	.	.	.	.	.	.	.	.	C	13.05	2.120666	0.37436	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.68331	-0.32;-0.32	4.49	4.49	0.54785	.	0.000000	0.49916	D	0.000135	T	0.76681	0.4021	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	T	0.75172	-0.3411	10	0.38643	T	0.18	.	14.0168	0.64529	0.0:1.0:0.0:0.0	.	86;418	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	418;419	ENSP00000434830:P418T;ENSP00000438378:P419T	ENSP00000434830:P418T	P	+	1	0	NRK	105039541	1.000000	0.71417	0.785000	0.31869	0.084000	0.17831	3.018000	0.49625	2.481000	0.83766	0.600000	0.82982	CCA		PASS	0.597	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		10	15	10	15	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694758	109694758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:109694758G>T	ENST00000465301.2	+	3	1159	c.913G>T	c.(913-915)Gga>Tga	p.G305*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G305*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	305								p.G305*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCTAGACTCTGGAATAATGTC	0.478																																						uc004eor.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(913-915)GGA>TGA		retrotransposon gag domain containing 1							213.0	186.0	195.0					X																	109694758		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109694758G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.913G>T	X.37:g.109694758G>T	ENSP00000419786:p.Gly305*					RGAG1_uc011msr.1_Nonsense_Mutation_p.G305*	p.G305*	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1159	+			305					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.913G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415821	0.42817	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	3.91	1.18	0.20946	.	0.695108	0.11881	N	0.520480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0891	6.4131	0.21702	0.4233:0.0:0.5767:0.0	.	.	.	.	X	305	.	.	G	+	1	0	RGAG1	109581414	0.002000	0.14202	0.148000	0.22405	0.105000	0.19272	0.275000	0.18698	0.110000	0.17919	0.600000	0.82982	GGA		PASS	0.478	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	113	6	113	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112058618	112058618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:112058618C>A	ENST00000524145.1	-	3	1434	c.1360G>T	c.(1360-1362)Gga>Tga	p.G454*	AMOT_ENST00000371959.3_Nonsense_Mutation_p.G454*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.G222*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.G222*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.G45*			Q4VCS5	AMOT_HUMAN	angiomotin	454					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.G45*(1)|p.G454*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCATAGCATCCTTCCAACTCT	0.478																																						uc004epr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1360-1362)GGA>TGA		angiomotin isoform 1							259.0	235.0	243.0					X																	112058618		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058618C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1360G>T	X.37:g.112058618C>A	ENSP00000429013:p.Gly454*					AMOT_uc004eps.2_Nonsense_Mutation_p.G45*|AMOT_uc004ept.1_Nonsense_Mutation_p.G454*	p.G454*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			2	1360	-			454			Potential.		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1360G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	38	6.846267	0.97881	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.45	4.51	0.55191	.	0.477544	0.23587	N	0.046587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.3831	12.4086	0.55453	0.0:0.9049:0.0:0.0951	.	.	.	.	X	45;454;222;454;222	.	ENSP00000305557:G45X	G	-	1	0	AMOT	111945274	0.707000	0.27866	1.000000	0.80357	0.998000	0.95712	1.290000	0.33319	2.527000	0.85204	0.600000	0.82982	GGA		PASS	0.478	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		7	164	7	164	---	---	---	---
OPN1LW	5956	broad.mit.edu	37	X	153416411	153416411	+	Silent	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:153416411C>T	ENST00000369951.4	+	2	456	c.396C>T	c.(394-396)acC>acT	p.T132T	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	132					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.T132T(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGCTACACCGTCTCCCTGT	0.607													C|||	1	0.000264901	0.0008	0.0	3775	,	,		10651	0.0		0.0	False		,,,				2504	0.0					uc004fjz.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(394-396)ACC>ACT		opsin 1 (cone pigments), long-wave-sensitive							70.0	80.0	76.0					X																	153416411		2193	4250	6443	SO:0001819	synonymous_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416411C>T	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.396C>T	X.37:g.153416411C>T							p.T132T	NM_020061	NP_064445	P04000	OPSR_HUMAN			2	429	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		132			Helical; Name=3; (Potential).			Silent	SNP	ENST00000369951.4	37	c.396C>T	CCDS14742.1																																																																																				PASS	0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		12	17	12	17	---	---	---	---
F8	2157	broad.mit.edu	37	X	154185447	154185447	+	Splice_Site	SNP	C	C	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chrX:154185447C>T	ENST00000360256.4	-	11	1738		c.e11-1			NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.?(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTTTTACACCTACCCACAAG	0.363																																						uc004fmt.2																			2	Unknown(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CS034840|CS080684	F8	S		c.e11-1		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						96.0	91.0	93.0					X																	154185447		2203	4300	6503	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185447C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1538-1G>A	X.37:g.154185447C>T							p.G513_splice	NM_000132	NP_000123	P00451	FA8_HUMAN			11	1709	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	c.1538_splice	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921962	0.52653	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.19	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7438	0.28856	0.0:0.8861:0.0:0.1139	.	.	.	.	.	-1	.	.	.	-	.	.	F8	153838641	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.516000	0.53436	2.155000	0.67459	0.600000	0.82982	.		PASS	0.363	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Intron	12	10	12	10	---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114242392	114242393	+	Frame_Shift_Ins	INS	-	-	T			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr1:114242392_114242393insT	ENST00000369604.1	-	17	2558_2559	c.2075_2076insA	c.(2074-2076)aagfs	p.K692fs	PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.K639fs|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.K647fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.K639fs|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.K692fs			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	692					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTATTTGGCTTTTTTTCCAT	0.282																																						uc009wgp.1																			0				ovary(1)	1						c.(2074-2076)AAGfs		putative homeodomain transcription factor 1																																				SO:0001589	frameshift_variant	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114242392_114242393insT	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.2076dupA	1.37:g.114242399_114242399dupT	ENSP00000358617:p.Lys692fs					PHTF1_uc001edm.2_Frame_Shift_Ins_p.K449fs	p.K692fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2527_2528	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	692					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Ins	INS	ENST00000369604.1	37	c.2075_2076insA	CCDS861.1																																																																																					0.282	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		4	2	4	2	---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97823873	97823873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr2:97823873delA	ENST00000461153.2	+	16	1534	c.1290delA	c.(1288-1290)agafs	p.R431fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.R431fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	431										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTACGAACAGAAGGACTATTT	0.284																																						uc010yva.1																			0					0						c.(1288-1290)AGAfs		ankyrin repeat domain 36							161.0	105.0	122.0					2																	97823873		692	1591	2283	SO:0001589	frameshift_variant	375248							g.chr2:97823873delA	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1290delA	2.37:g.97823873delA	ENSP00000419530:p.Arg431fs					ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_Frame_Shift_Del_p.R149fs|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA	p.R430fs	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			16	1534	+			430					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	c.1290delA	CCDS54379.1																																																																																					0.284	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	4	3	4	---	---	---	---
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510|rs557543525|rs202189171	byFrequency	TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													T|T|-|deletion	1280	0.255591	0.3419	0.2349	5008	,	,		10884	0.0109		0.4304	False		,,,				2504	0.226					uc002klz.2																			1	Deletion - Frameshift(1)		large_intestine(1)	ovary(1)	1						c.(244-246)CCTfs		TG-interacting factor isoform a							10.0	11.0	10.0					18																	3452223		2031	3818	5849	SO:0001589	frameshift_variant	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3452223delT	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.246delT	18.37:g.3452223delT	ENSP00000327959:p.Pro85fs					TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	p.P82fs	NM_170695	NP_733796	Q15583	TGIF1_HUMAN			1	633	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	82					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	c.246delT	CCDS11834.1																																																																																					0.766	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		6	3	6	3	---	---	---	---
A1BG	1	broad.mit.edu	37	19	58861774	58861774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3406-01A-01D-0983-08	TCGA-18-3406-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d3320989-71fd-425b-933e-6e8528a016ed	61812dcb-a44c-4e00-9527-4a5146f617c1	g.chr19:58861774delC	ENST00000263100.3	-	6	1215	c.1154delG	c.(1153-1155)ggcfs	p.G385fs	A1BG-AS1_ENST00000600686.1_RNA|A1BG_ENST00000596924.1_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	385	Ig-like V-type 4.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGGCGCGGAGCCCCCGAAAGG	0.701																																						uc002qsd.3																			0					0						c.(1153-1155)GGCfs		alpha 1B-glycoprotein precursor							12.0	13.0	12.0					19																	58861774		2073	4052	6125	SO:0001589	frameshift_variant	1					extracellular region		g.chr19:58861774delC		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.1154delG	19.37:g.58861774delC	ENSP00000263100:p.Gly385fs					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	p.G385fs	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	6	1216	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	385			Ig-like V-type 4.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Frame_Shift_Del	DEL	ENST00000263100.3	37	c.1154delG	CCDS12976.1																																																																																					0.701	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		3	4	3	4	---	---	---	---
